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Title and authors | Publication | Year |
---|---|---|
Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from China
Li Y, Han T, Wang Y, Gao J, Zhang J, Wu Y |
Journal of Clinical Research in Pediatric Endocrinology | 2025 |
Successful Pregnancy in Isolated 17,20-lyase Deficiency Without Glucocorticoid Use or Assisted Reproduction Techniques
de Oliveira JM, Genari CM, Sobral PM, Kater CE, Costa-Barbosa FA |
2024 | |
History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology.
Miller WL, White PC |
Endocrine reviews | 2023 |
Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.
Pan P, Zheng L, Huang J, Chen X, Ni R, Zhang Q, Yang D, Li Y |
Journal of Ovarian Research | 2023 |
Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype.
Bouça B, Cascão M, Fiúza P, Amaral S, Bogalho P, Silva-Nunes J |
Endocrinology, diabetes & metabolism case reports | 2023 |
A Chinese girl with delayed puberty due to 17α-hydroxylase deficiency: the diagnosis, treatment and monitoring approach.
Yu GCF, Tay MK, Chen SP, Leung MTS, Tung JY |
Endocrinology, diabetes & metabolism case reports | 2023 |
Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report.
Rashmi KG, Ravichandran L, Roy A, Naik D, Kamalanathan S, Sahoo J, Chapla A, Thomas N |
2023 | |
Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report.
Gong Y, Qin F, Li WJ, Li LY, He P, Zhou XJ |
World journal of clinical cases | 2022 |
Case report: 17α- hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients.
Li J, Zhang Q, Chen J, Fu X, Yang J, Liu L |
Frontiers in Pediatrics | 2022 |
17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.
Han LH, Wang L, Wu XY |
Clinical Case Reports | 2022 |
An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature.
Liao Q, Shen R, Liao M, Ran C, Zhou L, Zhang Y, Peng G, Sun Z, Zheng H, Long M |
Frontiers in Endocrinology | 2022 |
Dexamethasone application for in vitro fertilisation in non-classic 17-hydroxylase/17,20-lyase-deficient women.
Yang XL, Zhang TT, Shang J, Xue Q, Kuai YR, Wang S, Xu Y |
Frontiers in Endocrinology | 2022 |
An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report.
Ishinoda Y, Uto A, Yamada Y, Okazaki M, Asada H, Wakamatsu S, Kurihara I, Shibata H, Ishii T, Hasegawa T, Kumagai H, Kasuga A |
BMC Endocrine Disorders | 2022 |
Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review.
Yin M, Yang J, Tian Q, Zhang X |
Frontiers in Endocrinology | 2022 |
Focus on adrenal and related causes of hypertension in childhood and adolescence: Rare or rarely recognized?
Costa-Barbosa FA, Giorgi RB, Kater CE |
Archives of Endocrinology and Metabolism | 2022 |
17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports
D Zhang, JR Sun, J Xu, Y Xing, M Zheng, SD Ye, J Zhu |
World journal of clinical cases | 2021 |
Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation
HI Lee, A Kwon, JH Suh, HS Choi, KC Song, HW Chae, HS Kim |
Annals of Pediatric Endocrinology & Metabolism | 2021 |
Transplantation of human umbilical cord mesenchymal stem cells to treat premature ovarian failure
O Shareghi-oskoue, L Aghebati-Maleki, M Yousefi |
Stem Cell Research & Therapy | 2021 |
Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency
Y Xia, P Shi, J Xia, H Zhang, L Xu, X Kong |
Steroids | 2021 |
The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series
M Sun, JW Mueller, LC Gilligan, AE Taylor, F Shaheen, A Noczyńska, G TSjoen, L Denvir, S Shenoy, P Fulton, TD Cheetham, H Gleeson, M Rahman, NP Krone, NF Taylor, CH Shackleton, W Arlt, J Idkowiak |
European Journal of Endocrinology | 2021 |
Hereditary causes of primary aldosteronism and other disorders of apparent excess mineralocorticoid activity.
He X, Modi Z, Else T |
Gland Surgery | 2020 |
Studies in Zebrafish Demonstrate That CNNM2 and NT5C2 Are Most Likely the Causal Genes at the Blood Pressure-Associated Locus on Human Chromosome 10q24.32
KK Vishnolia, C Hoene, K Tarhbalouti, J Revenstorff, Z Aherrahrou, J Erdmann |
Frontiers in Cardiovascular Medicine | 2020 |
A rare case of hypertension in a young (fe)male
A Golla, S Raju, K Prasad |
Indian journal of nephrology | 2020 |
Profiling of anabolic androgenic steroids and selective androgen receptor modulators for interference with adrenal steroidogenesis
M Patt, KR Beck, TD Marco, MC Jäger, V González-Ruiz, J Boccard, S Rudaz, RW Hartmann, M Salah, CJ van Koppen, M Grill, A Odermatt |
Biochemical Pharmacology | 2020 |
A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
M Nazari, MY Mehrjardi, N Neghab, M Aghabagheri, N Ghasemi |
International Journal of Reproductive Biomedicine | 2019 |
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
M Wang, H Wang, H Zhao, L Li, M Liu, F Liu, F Meng, C Fan |
Clinical Hypertension | 2019 |
A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene
E Unal, R Yıldırım, FF Taş, S Tekin, S Ceylaner, YK Haspolat |
Gynecological Endocrinology | 2019 |
A Case Report of Recurrent Hypokalemic Paralysis—missing the “Period”
S Rajadhyax, B Chauhan, V Huded, SJ Patil, A Kannan, V Bhat, S Kannan |
Neurology India | 2019 |
Current approaches for the treatment of premature ovarian failure with stem cell therapy
G Sheikhansari, L Aghebati-Maleki, M Nouri, F Jadidi-Niaragh, M Yousefi |
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie | 2018 |
Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency
EY Mo, J Lee, SY Kim, MJ Kim, ES Kim, S Lee, JH Han, S Moon |
Endocrinology and Metabolism | 2018 |
Pediatric Hypertension
J Flynn, JR Ingelfinger, K Redwine |
Pediatric Hypertension | 2017 |
Glucocorticoids and gut bacteria: “The GALF Hypothesis” in the metagenomic era
DJ Morris, JM Ridlon |
Steroids | 2017 |
Genetics of hypertension: an assessment of progress in the spontaneously hypertensive rat
PA Doris |
Physiological genomics | 2017 |
Congenital adrenal hyperplasia causing hypertension: an illustrative review
L Hinz, D Pacaud, G Kline |
Journal of Human Hypertension | 2017 |
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female
G Lanzolla, G Vancieri, S Lanciotti, F Sangiuolo, E Menegatti, L Federici, C Moretti, F Brancati |
Gynecological Endocrinology | 2017 |
Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population
Q Li, T Gao, Y Yuan, Y Wu, Q Huang, F Xie, P Ran, L Sun, C Xiao |
Medical science monitor : international medical journal of experimental and clinical research | 2017 |
Genetics of Congenital Adrenal Hyperplasia
F Hannah-Shmouni, W Chen, DP Merke |
Endocrinology and metabolism clinics of North America | 2017 |
Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis
Y Zhang, X Zhang, Y Wang, K Hua, J Ding |
Gynecological Endocrinology | 2017 |
Female phenotype with male karyotype: a clinical enigma
S Sukumar, P Uppula, S Kumar, A Bhansali |
BMJ case reports | 2017 |
Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population.
Li Q, Gao T, Yuan Y, Wu Y, Huang Q, Xie F, Ran P, Sun L, Xiao C |
Medical science monitor : international medical journal of experimental and clinical research | 2017 |
Endocrinology: Adult and Pediatric
M Gurnell, TJ Visser, P Beck-Peccoz, VK Chatterjee |
Endocrinology: Adult and Pediatric | 2016 |
Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects
LC de Carvalho, VN Brito, RM Martin, AM Zamboni, LG Gomes, M Inácio, LM Mermejo, F Coeli-Lacchini, VR Teixeira, FT Gonçalves, AJ Carrilho, KY Camargo, GP Finkielstain, GF Taboada, EM Costa, S Domenice, BB Mendonca |
Fertility and Sterility | 2016 |
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect
B Han, L Xue, M Fan, S Zhao, W Liu, H Zhu, T Cheng, Y Lu, K Cheng, H Song, Y Liu, J Qiao |
Endocrine | 2016 |
TPhP exposure disturbs carbohydrate metabolism, lipid metabolism, and the DNA damage repair system in zebrafish liver
Z Du, Y Zhang, G Wang, J Peng, Z Wang, S Gao |
Scientific Reports | 2016 |
Common Polymorphisms at the CYP17A1 Locus Associate With Steroid PhenotypeNovelty and Significance: Support for Blood Pressure Genome-Wide Association Study Signals at This Locus
LA Diver, SM MacKenzie, R Fraser, F McManus, EM Freel, S Alvarez-Madrazo, JD McClure, EC Friel, NA Hanley, AF Dominiczak, MJ Caulfield, PB Munroe, JM Connell, E Davies |
Hypertension | 2016 |
17α-hydroxylase Deficiency Mimicking Hyperaldosteronism by Aldosterone-producing Adrenal Adenoma
YK Cho, H Oh, S Kang, S An, JY Huh, JH Lee, WJ Lee |
Korean Journal of Medicine | 2016 |
Endocrinology
C Napier, SH Pearce |
Endocrinology | 2016 |
Endocrinology of the Testis and Male Reproduction
M Simoni, I Huhtaniemi |
Endocrinology of the Testis and Male Reproduction | 2016 |
17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report
S Xu, S Hu, X Yu, M Zhang, Y Yang |
Molecular medicine reports | 2016 |
Why do humans have two glucocorticoids: A question of intestinal fortitude
DJ Morris |
Steroids | 2015 |
A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation
A Guenego, Y Morel, O Ionesco, D Mallet, M Priou-Guesdon |
Annales d'Endocrinologie | 2015 |
CYP17A1 Enzyme Activity Is Linked to Ambulatory Blood Pressure in a Family-Based Population Study
D Ackermann, M Pruijm, B Ponte, I Guessous, G Ehret, G Escher, B Dick, H Al-Alwan, P Vuistiner, F Paccaud, M Burnier, A Péchère-Bertschi, PY Martin, B Vogt, M Mohaupt, M Bochud |
American Journal of Hypertension | 2015 |
A Single Nucleotide Polymorphism near the CYP17A1 Gene Is Associated with Left Ventricular Mass in Hypertensive Patients under Pharmacotherapy
M Huber, S Lezius, R Reibis, A Treszl, D Kujawinska, S Jakob, K Wegscheider, H Völler, R Kreutz |
International journal of molecular sciences | 2015 |
Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor
SJ Lee, JE Song, S Hwang, JY Lee, HS Park, S Han, Y Rhee |
Endocrinology and Metabolism | 2015 |
17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development
A Deeb, HA Suwaidi, S Attia, AA Ameri |
Endocrinology, diabetes & metabolism case reports | 2015 |
Elevated Levels of Plasma Immunoassayable Aldosterone in a Mild Form of 17 Alpha-Hydroxylase/17,20-lyase Deficiency Diagnosed at the Age of 50
Y Ueda, T Usui, T Watanabe, K Kaneko, R Nakatani, M Kakita-Kobayashi, K Tanase-Nakao, K Nanba, M Tsuiki, T Tagami, M Naruse, Y Toyoda, K Homma, T Hasegawa, A Shimatsu |
AACE Clinical Case Reports | 2015 |
Clinical characteristics and mutation analysis of two Chinese children with 17a-hydroxylase/17,20-lyase deficiency
Ziyang Zhu, Shining Ni, Wei Gu |
International journal of clinical and experimental medicine | 2015 |
Historical perspective: gut dysbiosis and hypertension
JW Honour |
Physiological genomics | 2015 |
Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman
WA Mula-Abed, FB Pambinezhuth, MK Al-Kindi, NB Al-Busaidi, HN Al-Muslahi, MA Al-Lamki |
Oman Medical Journal | 2014 |
Genetic Steroid Disorders
DE Reichman, Z Rosenwaks |
Genetic Steroid Disorders | 2014 |
Comprehensive Physiology
SN Cheuvront, RW Kenefick |
Comprehensive Physiology | 2014 |
An alternative explanation of hypertension associated with 17α-hydroxylase deficiency syndrome
DJ Morris, SA Latif, AS Brem |
Steroids | 2014 |
Hiperplasia suprarrenal congénita debida a deficiencia de 17α-hidroxilasa: a propósito de una nueva mutación en el gen CYP17A1
JI Martínez, BP Marqués, AA Muñoz, EM Dehesa, JI Aizpún, LL Fernández |
Anales de Pediatría | 2014 |
Comprehensive Physiology
A Turcu, JM Smith, R Auchus, WE Rainey |
Comprehensive Physiology | 2014 |
Ovarian aging and premature ovarian failure
Yavuz Emre Sükür, Içten Balık Kıvançlı, Batuhan Ozmen |
2014 | |
Cytochrome b5 modulates multiple reactions in steroidogenesis by diverse mechanisms
KH Storbeck, AC Swart, CL Fox, P Swart |
The Journal of Steroid Biochemistry and Molecular Biology | 2014 |
Arterielle Hypertonie
A Fritz, M Arzt |
Somnologie - Schlafforschung und Schlafmedizin | 2014 |
Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency
M Shi, X Chen, Q Zhou, F Shen |
Gynecological Endocrinology | 2014 |
Ovarian aging and premature ovarian failure
Yavuz Emre Sukur, Icten Bal?k K?vancl?, Batuhan Ozmen |
2014 | |
Comprehensive Gynecology
RL Coleman, PT Ramirez, DM Gershenson |
Comprehensive Gynecology | 2013 |
Seldin and Giebisch's The Kidney
CJ Cooper, LD Dworkin, WL Henrich |
Seldin and Giebisch's The Kidney | 2013 |
Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients
B Han, W Liu, CL Zuo, H Zhu, L Li, C Xu, XJ Wang, BL Liu, CM Pan, YL Lu, WL Wu, MD Chen, HD Song, KX Cheng, J Qiao |
Gene | 2013 |
Emery and Rimoin's Principles and Practice of Medical Genetics
DC Wallace, MT Lott, V Procaccio |
Emery and Rimoin's Principles and Practice of Medical Genetics | 2013 |
Understanding the genetic aetiology in patients with XY DSD
SF Ahmed, A Bashamboo, A Lucas-Herald, K McElreavey |
British Medical Bulletin | 2013 |
A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency
ES Lee, M Kim, S Moon, DW Jekarl, S Lee, Y Kim, GY Choi |
Gynecological Endocrinology | 2013 |
Quantitative and Qualitative Proteome Characteristics Extracted from In-Depth Integrated Genomics and Proteomics Analysis
TY Low, S van Heesch, H van den Toorn, P Giansanti, A Cristobal, P Toonen, S Schafer, N Hübner, B van Breukelen, S Mohammed, E Cuppen, AJ Heck, V Guryev |
Cell Reports | 2013 |
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
N Blau, M Duran, KM Gibson, CD Vici |
2013 | |
Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine − stop mutation
MA Escamilla-Márquez, JJ Garduño-Garcia, ML Ordóñez-Sanchez, A Reza-Albarrán, MT Tusie-Luna, FJ Pérez, CA Aguilar-Salinas |
Gynecological Endocrinology | 2012 |
Identification of a novel mutation in CYP17A1 gene
LQ Xue, B Han, LB Chen, CM Pan, H Zhu, BL Liu, W Liu, WL Wu, MD Chen, YL Lu, J Qiao, HD Song |
Translational Research | 2012 |
A brief history of adrenal research
WL Miller |
Molecular and Cellular Endocrinology | 2012 |
Expression of P450c17 in the human fetal nervous system
MD Schonemann, MO Muench, MK Tee, WL Miller, SH Mellon |
Endocrinology | 2012 |
Human steroid biosynthesis for the oncologist
ML Auchus, RJ Auchus |
Journal of investigative medicine : the official publication of the American Federation for Clinical Research | 2012 |
Endocrine Hypertension
CA Koch, GP Chrousos |
2012 | |
Human steroid biosynthesis for the oncologist.
Auchus ML, Auchus RJ |
Journal of investigative medicine : the official publication of the American Federation for Clinical Research | 2012 |
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
WL Miller, RJ Auchus |
Endocrine reviews | 2011 |
Prevalence of common mutations in the CYP17A1 gene in Chinese Han population
X Bao, H Ding, Y Xu, G Cui, Y He, X Yu, DW Wang |
Clinica Chimica Acta | 2011 |
Low-Renin Hypertension of Childhood
AA Parsa, MI New |
Endocrinology & Metabolism Clinics of North America | 2011 |
Lipid Metabolism
MC Brouwers, MM van Greevenbroek |
Current Opinion in Lipidology | 2011 |
17-α-Hydroxylase deficiency: An unusual case with primary amenorrhea and hypertension
SK Kota, K Modi, R Jha, SN Mandal |
Indian journal of endocrinology and metabolism | 2011 |
Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis
CH Shackleton |
Lipids | 2011 |
Clinical and genetic analysis for two Chinese siblings with 17α-hydroxylase/17,20-lyase deficiency
Q Zhou, C Wu, L Wang, J Zheng, C Zheng, J Jin, Y Qian, L Ni |
Gynecological Endocrinology | 2011 |
Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency
Q Tian, F Yao, Y Zhang, H Tseng, J Lang |
Gynecological Endocrinology | 2011 |
The syndrome of 17,20 lyase deficiency
WL Miller |
The Journal of clinical endocrinology and metabolism | 2011 |
Pubertal Delay, Hypokalemia, and Hypertension Caused by a Rare Form of Congenital Adrenal Hyperplasia
CA Olson, DF Crudo |
Journal of Pediatric and Adolescent Gynecology | 2011 |
Adrenogenital syndrome: past, present, and future
MA Kareva, EM Orlova |
Problems of Endocrinology | 2011 |
Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference
MI New, JL Simpson |
2011 | |
Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference
MI New, JL Simpson |
2011 | |
Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference
MI New, JL Simpson |
2011 | |
Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference
MI New, JL Simpson |
2011 | |
46,XY DSD due to impaired androgen production
BB Mendonca, EM Costa, A Belgorosky, MA Rivarola, S Domenice |
Best Practice & Research Clinical Endocrinology & Metabolism | 2010 |
Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17α-hydroxylase/17,20-lyase deficiency
J Qiao, X Chen, CL Zuo, YY Gu, BL Liu, J Liang, YL Lu, JF Tang, YX Wu, MD Chen, JL Chen, WL Wu, HD Song |
Clinical Endocrinology | 2010 |
Human cytochrome p450c17: single step purification and phosphorylation of serine 258 by protein kinase a
YH Wang, MK Tee, WL Miller |
Endocrinology | 2010 |
Defects of steroidogenesis
A Biason-Lauber, M Boscaro, F Mantero, G Balercia |
Journal of Endocrinological Investigation | 2010 |
A single amino acid residue, Ala 105, confers 16α-hydroxylase activity to human cytochrome P450 17α-hydroxylase/17,20 lyase
AC Swart, KH Storbeck, P Swart |
The Journal of Steroid Biochemistry and Molecular Biology | 2010 |
17-alpha-Hydroxylase deficiency: a case report with clinical and molecular analysis
H Li, J Qiao, H Guo |
Gynecological Endocrinology | 2010 |
Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient
F Costenaro, TC Rodrigues, CE Kater, RJ Auchus, M Papari-Zareei, MA Czepielewski |
Arquivos brasileiros de endocrinologia e metabologia | 2010 |
Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency
MS Neres, RJ Auchus, CH Shackleton, CE Kater |
Arquivos brasileiros de endocrinologia e metabologia | 2010 |
Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd |
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2009 |
Yen & Jaffe's Reproductive Endocrinology
RA Lobo |
Yen & Jaffe's Reproductive Endocrinology | 2009 |
Six Cases of Congenital Adrenal Hyperplasia That Were Due to 17α-hydroxylase/17,20-lyase Deficiency
DH Shin, SH Yu, YM Choi, JG Kim, SW Kim, CS Shin, KS Park, SY Kim |
Journal of Korean Endocrine Society | 2009 |
Genetics of congenital adrenal hyperplasia
N Krone, W Arlt |
Best Practice & Research Clinical Endocrinology & Metabolism | 2009 |
Menopause
DG Weismiller |
Primary Care Clinics in Office Practice | 2009 |
Yen & Jaffe's Reproductive Endocrinology
SF Thung, ER Norwitz |
Yen & Jaffe's Reproductive Endocrinology | 2009 |
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency
V Nuzzo, L Tauchmanova, R Brunetti-Pierri, A Zuccoli, G Lupoli, A Colao, N Brunetti-Pierri |
Journal of Endocrinological Investigation | 2009 |
Regulation of P450c17 Expression in the Early Embryo Depends on GATA Factors
Y Shi, MD Schonemann, SH Mellon |
Endocrinology | 2009 |
Antenatal Betamethasone Depresses Maternal and Fetal Aldosterone Levels
JM Kessel, JM Cale, E Verbrick, CR Parker, DP Carlton, IM Bird |
Reproductive sciences (Thousand Oaks, Calif.) | 2008 |
Therapy in Nephrology & Hypertension
WL Whittier, JB Lewis, EJ Lewis |
Therapy in Nephrology & Hypertension | 2008 |
Two CYP17 genes in the South African Angora goat (Capra hircus) - the identification of three genotypes that differ in copy number and steroidogenic output
KH Storbeck, AC Swart, MA Snyman, P Swart |
FEBS Journal | 2008 |
Urologic Surgical Pathology
GT MacLennan, L Cheng |
Urologic Surgical Pathology | 2008 |
Blocs enzymatiques précoces de la surrénale
D Samara-Boustani, A Bachelot, G Pinto, E Thibaud, M Polak, P Touraine |
EMC - Endocrinologie - Nutrition | 2008 |
Laboratory Guide to the Methods in Biochemical Genetics
N Blau, M Duran, KM Gibson |
2008 | |
Non-neoplastic diseases of the testis
Nistal M, Paniagua R |
Urologic Surgical Pathology | 2008 |
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency
N Krone, V Dhir, HE Ivison, W Arlt |
Clinical Endocrinology | 2007 |
Comprehensive Hypertension
HK Parthasarathy, TM MacDonald |
Comprehensive Hypertension | 2007 |
Treatment of the Postmenopausal Woman
FS Keating, JC Stevenson |
Treatment of the Postmenopausal Woman | 2007 |
17-Hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: Laboratory and molecular diagnosis – a case report
CL Benetti-Pinto, D Vale, H Garmes, A Bedone |
Gynecological Endocrinology | 2007 |
Adrenocortical hypertension
A Capricchione, N Winer, JR Sowers |
Current Urology Reports | 2006 |
Monogenic mineralocorticoid hypertension
M Stowasser, RD Gordon |
Best Practice & Research Clinical Endocrinology & Metabolism | 2006 |
A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17α-hydroxylase deficiency
LS Lee, WJ Shu, CM Wu, CH Hsieh, SM Chen, CJ Hu, WY Chen, B Chung |
Molecular and Cellular Endocrinology | 2006 |
Seventeen Alpha-hydroxylase Deficiency
SL Wong, SG Shu, CR Tsai |
Journal of the Formosan Medical Association | 2006 |
Genotyping of Five Chinese Patients with 17α-Hydroxylase Deficiency Diagnosed through High-Performance Liquid Chromatography Serum Adrenal Profile: Identification of Two Novel CYP17 Mutations
JQ Wei, JL Wei, WC Li, YS Bi, FC Wei |
The Journal of clinical endocrinology and metabolism | 2006 |
17α-Hydroxylase/17,20-Lyase Deficiency Due to Novel Compound Heterozygote Mutations: Treatment for Tall Stature in a Female with Male Pseudohermaphroditism and Spontaneous Puberty in her Affected Sister
KO Schwab, AM Moisan, J Homoki, M Peter, J Simard |
Journal of Pediatric Endocrinology and Metabolism | 2005 |
Monogenic low renin hypertension
MI New, DS Geller, F Fallo, RC Wilson |
Trends in Endocrinology & Metabolism | 2005 |
Mechanisms of Premature Menopause
RW Rebar |
Endocrinology and metabolism clinics of North America | 2005 |
Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling
A Patocs, I Liko, I Varga, P Gergics, A Boros, L Futo, I Kun, R Bertalan, S Toth, T Pazmany, M Toth, N Szücs, J Horanyi, E Glaz, K Racz |
The Journal of Steroid Biochemistry and Molecular Biology | 2005 |
Adrenocortical hypertension
A Capricchione, N Winer, JR Sowers |
Current Hypertension Reports | 2004 |
17-Alpha hydroxylase deficiency: An unusual cause of secondary amenorrhoea
Jim PHILIP, ANJALI, Nihal THOMAS, Simon RAJARATNAM, Mandalam S. SESHADRI |
The Australian and New Zealand Journal of Obstetrics and Gynaecology | 2004 |
17α-hydroxylase deficiency: Biochemical and molecular findings in two sisters and their family
MS Perez, H Benencia, GD Frechtel, EO Esteban, MC Gil, HM Targovnik, NB Marquez |
Molecular Diagnosis | 2004 |
Functional characterization of mutant CYP17 genes isolated from a 17α-hydroxylase/17,20-lyase-deficient patient
JR Hahm, TS Jung, SY Byun, YN Lee, KH Lee, DR Kim |
Metabolism | 2004 |
Angiotensin Vol. II
T Unger, BA Schölkens |
2004 | |
17??-Hydroxylase Deficiency: Biochemical and Molecular Findings in Two Sisters and their Family
MS Perez, H Benencia, GD Frechtel, EO Esteban, MC Gil, HM Targovnik, NB Marquez |
Molecular Diagnosis | 2004 |
Adrenal minerlocorticoids pathway and its clinical applications
A Ghulam, MC Vantyghem, JL Wemeau, A Boersma |
Clinica Chimica Acta | 2003 |
A novel compound heterozygous mutation in the CYP17 (P450 17α-hydroxylase) gene leading to 17α-hydroxylase/17,20-lyase deficiency
JR Hahm, DR Kim, DK Jeong, JH Chung, MS Lee, YK Min, KW Kim, MK Lee |
Metabolism | 2003 |
Familial partial 17,20-desmolase and 17alpha-hydroxylase deficiency presenting as infertility
D Levran, I Ben-Shlomo, C Pariente, J Dor, S Mashiach, A Weissman |
Journal of Assisted Reproduction and Genetics | 2003 |
Pseudohyperaldosteronism: Pathogenetic Mechanisms
D Armanini, L Calò, A Semplicini |
Critical Reviews in Clinical Laboratory Sciences | 2003 |
Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases
N Blau, M Duran, ME Blaskovics, KM Gibson |
2003 | |
Atlas of Hypertension
NK Hollenberg |
2003 | |
P450c17 Deficiency in Brazilian Patients: Biochemical Diagnosis through Progesterone Levels Confirmed by CYP17 Genotyping
RM Martin, CJ Lin, EM Costa, ML de Oliveira, A Carrilho, H Villar, CA Longui, BB Mendonca |
The Journal of clinical endocrinology and metabolism | 2003 |
Methods in Cell Biology
JW Smith |
Methods in cell biology | 2002 |
Impairment of AVP regulation in 17α-hydroxylase deficiency, a unique form of adrenal insufficiency
ÂM Leal, PC Elias, AC Moreira |
Journal of Endocrinological Investigation | 2002 |
Bases Moleculares da Hiperplasia Adrenal Congênita
MP de Mello, TA Bachega, M Costa-Santos, LM Mermejo, M Castro |
Arquivos brasileiros de endocrinologia e metabologia | 2002 |
Disorders of mineralocorticoid synthesis
JM Connell, R Fraser, E Davies |
Best Practice & Research Clinical Endocrinology & Metabolism | 2001 |
THE GENETICS, PATHOPHYSIOLOGX, AND MANAGEMENT OF HUMAN DEFICIENCIES OF P450c17
RJ Auchus |
Endocrinology & Metabolism Clinics of North America | 2001 |
Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency
Y Takeda, T Yoneda, M Demura, K Furukawa, H Koshida, I Miyamori, H Mabuchi |
Clinical Endocrinology | 2001 |
Mutation of Proline 409 to Arginine in the Meander Region of Cytochrome P450c17 Causes Severe 17α-Hydroxylase Deficiency
CW Lam, W Arlt, CK Chan, JW Honour, CJ Lin, SF Tong, KW Choy, WL Miller |
Molecular Genetics and Metabolism | 2001 |
Molekularmedizinische Grundlagen von Endokrinopathien
D Ganten, K Ruckpaul, OE Janssen, AE Heufelder |
2001 | |
Atlas of Heart Diseases
NK Hollenberg |
2001 | |
Compound Heterozygous Mutations (PHE53/54DEL and HIS373LEU) of the P450c17 Gene Result in a 17α-Hydroxylase/17, 20-Lyase Deficient Male Pseudohermaphrodite with Unambiguous External Genitalia
S Uehara, J Sato, Y Nishiyama, S Matsuzaki, T Funato, J Murotsuki, N Yaegashi, K Okamura, A Yajima |
The Tohoku Journal of Experimental Medicine | 2000 |
Hiperplasia adrenal congênita: deficiência de 17alfa-hidroxilase
EA da Silva, AC Siqueira, S Pacheco, AK Ribeiro |
Arquivos brasileiros de endocrinologia e metabologia | 2000 |
Spontaneous growth and bone age development in a patient with 17α-hydroxylase deficiency: Evidence of the role of sexual steroids in prepubertal bone maturation
EI Mayer, J Homoki, MB Ranke |
The Journal of Pediatrics | 1999 |
Levels of mineralocorticoids in whites and blacks
JH Pratt, JF Rebhun, L Zhou, WT Ambrosius, SA Newman, CE Gomez-Sanchez, DF Mayes |
Hypertension | 1999 |
Molecular medicine of steroid hormone biosynthesis
A Biason-Lauber |
Molecular Aspects of Medicine | 1998 |
Modulation of 17α-Hydroxylase/17,20-Lyase Activity of Guinea Pig Cytochrome P450c17 by Site-Directed Mutagenesis
C Beaudoin, B Lavallée, Y Tremblay, DW Hum, R Breton, YD Launoit, A Bélanger |
DNA and Cell Biology | 1998 |
Hypertension
P Hamet, Z Pausova, V Adarichev, K Adaricheva, J Tremblay |
Journal of Hypertension | 1998 |
Herz-Kreislauf-Erkrankungen
D Ganten, K Ruckpaul |
1998 | |
Steroid 17α-hydroxylase deficiency: First Australian case report
F Cameron, J Montalto, A Yong, G Warne |
Journal of Paediatrics and Child Health | 1997 |
Gynecological Endocrinology and Reproductive Medicine
B Runnebaum, T Rabe |
1997 | |
Women’s Health and Menopause: Risk Reduction Strategies
R Paoletti, PG Crosignani, P Kenemans, G Samsioe, MR Soma, AS Jackson |
1997 | |
Familial male pseudohermaphroditism.
Ammini AC, Sharma DC, Gupta R, Mohapatra I, Kucheria K, Kriplani A, Takkar D, Mitra DK, Vijayaraghavan M |
The Indian Journal of Pediatrics | 1997 |
Congenital Adrenal Hyperplasia
JB Levy, DA Husmann |
The Journal of Urology | 1996 |
17 Alpha-Hydroxylase/17,20-Lyase Deficiency: A Rare Cause of Endocrine Hypertension
C Hermans, JF Plaen, P Nayer, D Maiter |
The American Journal of the Medical Sciences | 1996 |
17 Alpha-Hydroxylase/17,20-Lyase Deficiency: A Rare Cause of Endocrine Hypertension:
C Hermans, JF de Plaen, P de Nayer, D Maiter |
The American Journal of the Medical Sciences | 1996 |
Genetic disorders of steroid hormone synthesis and metabolism
MI New, PC White |
Baillière's Clinical Endocrinology and Metabolism | 1995 |
17α-hydroxylase deficiency
EG Biglieri |
Journal of Endocrinological Investigation | 1995 |
Defects in steroidogenic enzymes. Discrepancies between clinical steroid research and molecular biology results
M Zachmann |
The Journal of Steroid Biochemistry and Molecular Biology | 1995 |
My engagement with steroids: A review
EG Biglieri |
Steroids | 1995 |
High-performance liquid chromatographic analysis of corticosteroids
P Volin |
Journal of Chromatography B Biomedical Sciences and Applications | 1995 |
Molecular Cloning and Expression of Guinea Pig Cytochrome P450C17 cDNA (Steroid 17α-Hydroxylase/17,20 Lyase): Tissue Distribution, Regulation, and Substrate Specificity of the Expressed Enzyme
Y Tremblay, A Fleury, C Beaudoin, M Vallée, A Bélanger |
DNA and Cell Biology | 1994 |
Molecular Genetics of Sex Determination
M Zachmann |
Molecular Genetics of Sex Determination | 1994 |
Disorders of Steroid 17α-Hydroxylase Deficiency
CE Kater, EG Biglieri |
Endocrinology and metabolism clinics of North America | 1994 |
Gynäkologische Endokrinologie und Fortpflanzungsmedizin
B Runnebaum, T Rabe |
1994 | |
Endocrine findings in male pseudohermaphroditism
M Zachmann |
European Journal of Pediatrics | 1993 |
Die Behandlung des 17 Alpha Hydroxylase Mangels durch Androgen Substitution
J Neuwinger, E Siebzehnrübl, S Todorow, L Wildt |
Archives of Gynecology and Obstetrics | 1993 |
Congenital adrenal hyperplasia
PW Speiser, PC White, MI New |
Reproductive Medicine Review | 1993 |
Diagnosis and treatment of 17-hydroxylase deficiency
M Peter, WG Sippell, H Wernze |
The Journal of Steroid Biochemistry and Molecular Biology | 1993 |
Evaluation of Elevated Blood Pressure
RR Townsend, DJ DiPette |
Clinics in Laboratory Medicine | 1993 |
17 alpha-Hydroxylase deficiency with persistence of mullerian ducts in a genotypic male and paradoxical aldosterone secretion
NS Panesar, VT Yeung, JC Chan, CC Shek, MG Nicholls, CS Cockram |
Postgraduate medical journal | 1993 |
Gynäkologie und Geburtshilfe 1992
D Krebs, D Berg |
1993 | |
Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency
T Imai, H Globerman, JM Gertner, N Kagawa, MR Waterman |
The Journal of biological chemistry | 1993 |
Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency
S Monno, H Ogawa, T Date, M Fujioka, WL Miller, M Kobayashi |
The Journal of biological chemistry | 1993 |
Steroid enzyme defects leading to male pseudohermaphroditism
MG Forest |
The Indian Journal of Pediatrics | 1992 |
Psychosis in a Male Pseudohermaphrodite With 17-Hydroxylase Deficiency
TJ Soundy, JL Black, GC Peterson, D Zimmerman |
Psychosomatics | 1992 |
Molecular basis of 17α-hydroxylase/17,20-lyase deficiency
T Yanase, T Imai, ER Simpson, MR Waterman |
The Journal of Steroid Biochemistry and Molecular Biology | 1992 |
Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17?-hydroxylase deficiency
T Imai, T Yanase, MR Waterman, ER Simpson, JJ Pratt |
Human Genetics | 1992 |
Hypergonadotropic Forms of Amenorrhea in Young Women
RW Rebar, MI Cedars |
Endocrinology and metabolism clinics of North America | 1992 |
Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496) → Cys, Gln(461) → Stop) actually cause combined 17α-hydroxylase/17,20-lyase deficiency
T Yanase, MR Waterman, M Zachmann, JS Winter, ER Simpson, M Kagimoto |
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 1992 |
Follicle Stimulating Hormone
M Hunzicker-Dunn, NB Schwartz |
1992 | |
Smiths Urologie
EA Tanagho, JW McAninch |
1992 | |
Secondary Hypertension: An Overview of its Causes and Management
DH Streeten, GH Anderson |
Drugs | 1992 |
A case of 17α-hydroxylase deficiency with chromosomal karyotype 46,XY and high plasma aldosterone concentration
H Shima, H Kawanaka, Y Yabumoto, E Okamoto, F Ikoma |
International Urology and Nephrology | 1991 |
17-α-hydroxylase deficiency in three siblings: short- and long-term studies
C Scaroni, A Biason, G Carpenè, G Opocher, F Mantero |
Journal of Endocrinological Investigation | 1991 |
Measurement of the cortisol production rate in two sisters with 17α-hydroxylase deficiency using [1,2,3,4-13C]cortisol and isotope dilution mass spectrometry
TE Chapman, GP Kraan, GT Nagel, BG Woltheirs, NM Drayer |
The Journal of Steroid Biochemistry and Molecular Biology | 1991 |
Mineralocorticoids in congenital adrenal hyperplasia
EG Biglieri, CE Kater |
The Journal of Steroid Biochemistry and Molecular Biology | 1991 |
Clinical, Biochemical and Molecular Aspects of 17-Hydroxylase Deficiency
JS Winter |
Endocrine Research | 1991 |
17α-Hydroxylation Deficiency
EG Biglieri, CE Kater |
Endocrinology and metabolism clinics of North America | 1991 |
Case Report: 17 Alpha-Hydroxylase Deficiency Masquerading as Primary Hyperaldosteronism
DA Cottrell, JM Falko, FA Bello |
The American Journal of the Medical Sciences | 1990 |
HORMONES AND HYPERTENSION
R Fraser, DL Davies, JM Connell |
Clinical Endocrinology | 1989 |
Identification and implications of new types of mineralocorticoid hypertension
EG Biglieri, I Irony, CE Kater |
Journal of Steroid Biochemistry | 1989 |
Identification of a common molecular basis for combined 17?-hydroxylase/17,20-lyase deficiency in two Mennonite families
K Kagimoto, MR Waterman, M Kagimoto, P Ferreira, ER Simpson, JS Winter |
Human Genetics | 1989 |
Deletion of a phenylalanine in the N-terminal region of human cytochrome P-45017α results in partial combined 17α-hydroxylase/17,20-lyase deficiency
T Yanase, M Kagimoto, S Suzuki, K Hashiba, ER Simpson, MR Waterman |
The Journal of biological chemistry | 1989 |
Male pseudohermaphroditism due to 17-hydroxylase deficiency
A DAlberton, E Reschini, T Motta, A Catania |
Journal of Endocrinological Investigation | 1989 |
Syndrome of apparent mineralocorticoid excess. A defect in the cortisol-cortisone shuttle
PM Stewart, JE Corrie, CH Shackleton, CR Edwards |
Journal of Clinical Investigation | 1988 |
HETEROZYGOTES FOR 17α-HYDROXYLASE DEFICIENCY CAN BE DETECTED WITH A SHORT ACTH TEST
JM Wit, HP Roermund, W Oostdijk, TJ Benraad, JH Thijssen, P Boer, M Jansen, M Spit, JL Brande |
Clinical Endocrinology | 1988 |
Combined 17α-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17α-hydroxylase cytochrome P-450
Y Toshihiko, K Masaaki, M Nobuo, ER Simpson, MR Waterman |
Molecular and Cellular Endocrinology | 1988 |
6 Molecular genetics of congenital adrenal hyperplasia
PC White, MI New |
Baillière's Clinical Endocrinology and Metabolism | 1988 |
Disorders of Gonadal Differentiation and Congenital Adrenal Hyperplasia
MI New, N Josso |
Endocrinology and metabolism clinics of North America | 1988 |
The Adrenal Gland
CR Kannan |
1988 | |
Congenital adrenal hyperplasia: basic physiology, clinical presentation and management
NG Greger, SK Varma |
The Indian Journal of Pediatrics | 1987 |
Male Pseudohermaphroditism and Hypertension due to 17α-hydroxylase Deficiency: Seven Year Follow-up and In Vitro Studies of Testicular Tissue
DI Shulman, A Vargas, LJ Rodriguez, E Steinberger, MI New, AW Root, BB Bercu |
Journal of Pediatric Endocrinology and Metabolism | 1987 |
Identification of new steroids in patients with 17α-hydroxylase deficiency by capillary gas chromatography/mass spectrometry
N Blau, M Zachmann, B Kempken, W Staudenmann, E Möhr, HC Curtius |
Biological Mass Spectrometry | 1987 |
Congenital 17α-hydroxylase deficiency: A clinicopathologic study
H Sasano, T Masuda, M Ojima, S Fukuchi, N Sasano |
Human Pathology | 1987 |
Potassium Homeostasis and Hypokalemia
MA Linshaw |
Pediatric Clinics of North America | 1987 |
Clinical Aspects of Endocrine Hypertension
EL Bravo |
Medical Clinics of North America | 1987 |
Low-renin hypertension of childhood
J DiMartino-Nardi, MI New |
Pediatric Nephrology | 1987 |
Gynäkologische Endokrinologie
B Runnebaum, T Rabe |
Gynäkologische Endokrinologie | 1987 |
Renin-Angiotensin-Aldosterone System: A Long-Term Follow-Up Study in 17α-Hydroxylase Deficiency Syndrome (17OHDS)
C Scaroni, G Opocher, F Mantero |
Clinical and Experimental Hypertension | 1986 |
Spontaneous sexual development and menarche in a female with 17 α-hydroxylase deficiency
PN Singhellakis, D Panidis, J Papadimas, H Demertzi, A Tsourdis, F Sotsiou, DG Ikkos |
Journal of Endocrinological Investigation | 1986 |
Low-renin primary hypertension in a young patient treated with dexamethasone
AP Tommaselli, GD Simone, LD Lorenzo, R Rossi, A Cocca, R Valentino, B Biondi, G Lombardi |
Journal of Endocrinological Investigation | 1986 |
Perinatal Genetics
MI New |
Perinatal Genetics | 1986 |
Secondary hypertension: A streamlined approach to diagnosis
EL Bravo |
Postgraduate Medicine | 1986 |
Clinical Endocrinology
A Labhart |
Clinical Endocrinology | 1986 |
Hormonelle Grundlagen der normalen und pathologischen somatischen Sexualentwicklung
, F Neumann |
Klinische Wochenschrift | 1986 |
CONGENITAL ADRENAL HYPERPLASIA DUE TO DEFICIENT CHOLESTEROL SIDE-CHAIN CLEAVAGE ACTIVITY (20, 22-DESMOLASE) IN A PATIENT TREATED FOR 18 YEARS
BP Hauffa, WL Miller, MM Grumbach, FA Conte, SL Kaplan |
Clinical Endocrinology | 1985 |
Pregnancy complicated by Cushing's syndrome: potential hazard of metyrapone therapy. Case report
JM Connell, J Cordiner, DL Davies, R Fraser, BM Frier, SG McPHERSON |
BJOG: An International Journal of Obstetrics and Gynaecology | 1985 |
Partial deficiency of adrenal 11-hydroxylase. A possible cause of primary hypertension
G de Simone, AP Tommaselli, R Rossi, R Valentino, R Lauria, F Scopacasa, G Lombardi |
Hypertension | 1985 |
Kardiologie
M Sokolow, MB Mcllroy |
1985 | |
Pediatric and Adolescent Obstetrics and Gynecology
JP Lavery, JS Sanfilippo |
1985 | |
A Case of 17α-Hydroxylase Deficiency Syndrome Associated with Right Adrenal Tumor
K Ogawa, A Hara, S Tanabe, S Tamori, H Yoshida, CH Pak, M Matsunaga, C Kawai, H Dodo, H Tanimura |
Clinical and Experimental Hypertension | 1984 |
Disorders of the adrenal cortex: their effects on electrolyte metabolism
R Fraser |
Clinics in Endocrinology and Metabolism | 1984 |
Endocrine Disorders
LH Rees |
Endocrine Disorders | 1984 |
Examination of Kidney Function
O Schück |
1984 | |
CORRELATIONS BETWEEN FIBROBLAST ANDROGEN RECEPTOR LEVELS and CLINICAL FEATURES IN ABNORMAL MALE SEXUAL DIFFERENTIATION and INFERTILITY
GL Warne, S Gyorki, GP Risbridger, BA Khalid, JW Funder |
Australian and New Zealand Journal of Medicine | 1983 |
Syndromes of Aldosterone Deficiency and Excess
DC Batlle, NA Kurlzman |
Medical Clinics of North America | 1983 |
Adolescent Gynecology
AM Bongiovanni |
1983 | |
Congenital and acquired disorders of the adrenal cortex
IA Hughes |
Clinics in Endocrinology and Metabolism | 1982 |
Ambiguous genitalia, small genitalia and undescended testes
MO Savage |
Clinics in Endocrinology and Metabolism | 1982 |
Testicular in vitro conversion of progesterone to testosterone and androstenedione in 17α-hydroxylase deficiency
IS Salti, H Hajj, S Dhib-Jalbut |
Journal of Steroid Biochemistry | 1982 |
Childhood Hypertension Due to Adrenocortical Disorders
SE Oberfield, LS Levine, MI New |
Pediatric Annals | 1982 |
Hypersecretion of a New Corticosteroid, 18–Hydroxycortisol in Two Types of Adrenocortical Hypertension
S Ulick, MD Chu |
Clinical and Experimental Hypertension. Part A: Theory and Practice | 1982 |
Hypertensive Cardiovascular Disease: Pathophysiology and Treatment
A Amery, R Fagard, P Lijnen, J Staessen |
1982 | |
Arterial Hypertension
J Rosenthal |
1982 | |
Inborn Errors of Metabolism in Humans
F Cockburn, R Gitzelmann |
1982 | |
Mineralocorticoid hypertension due to a nasal spray containing 9α-fluoroprednisolone
F Mantero, D Armanini, G Opocher, F Fallo, L Sampieri, B Cuspidi, C Ambrosi, G Faglia |
The American Journal of Medicine | 1981 |
4 Exogenous mineralocorticoid-like disorders
F Mantero |
Clinics in Endocrinology and Metabolism | 1981 |
Proceedings of the 1980 Laurentian Hormone Conference
MI New, B Dupont, S Pang, M Pollack, LS Levine |
Proceedings of the 1980 Laurentian Hormone Conference | 1981 |
17α-Hydroxylase deficiency in a genetic male and female sibling pair
IN Sills, MH MacGillivray, JA Amrhein, CJ Migeon, RE Peterson |
International Journal of Gynecology & Obstetrics | 1981 |
Regulation of steroidogenesis and steroid action in Leydig cells
K Purvis, L Cusan, V Hansson |
Journal of Steroid Biochemistry | 1981 |
3 Enzymatic disorders and hypertension
EG Biglieri |
Clinics in Endocrinology and Metabolism | 1981 |
Urinary Kallikrein Excretion in Essential and Mineralocorticoid Hypertension
OB Holland, JM Chud, H Braunstein |
Journal of Clinical Investigation | 1980 |
Primary hyperaldosteronism
BA Scoggins, JP Coghlan |
Pharmacology & Therapeutics | 1980 |
MALE PSEUDOHERMAPHRODITISM WITH 17alpha-HYDROXYLASE DEFICIENCY. A CASE REPORT
L Abad, JJ Parrilla, J Marcos, F Gimeno, AL Bernal |
BJOG: An International Journal of Obstetrics and Gynaecology | 1980 |
The diagnosis and management of intersex
RL Rosenfield, AW Lucky, TD Allen |
Current Problems in Pediatrics | 1980 |
Inborn Error in the Terminal Step of Aldosterone Biosynthesis: Corticosterone Methyl Oxidase Type II Deficiency in a North American Pedigree
JD Veldhuis, HE Kulin, RJ Santen, TE Wilson, JC Melby |
New England Journal of Medicine | 1980 |
XY females with enzyme deficiencies of steroid metabolism: A brief review
K Madan, J Schoemaker |
Human Genetics | 1980 |
Advances in Human Genetics 10
H Harris, K Hirschhorn |
1980 | |
Diagnosis in Andrology
J Bain, ES Hafez |
1980 | |
TESTICULAR FUNCTION IN POST PUBERTAL MALE PSEUDOHERMAPHRODITISM
S Campo, M Stivel, G Nicolau, C Monteagudo, M Rivarola |
Clinical Endocrinology | 1979 |
SPONTANEOUS PREGNANCY IN A PATIENT WITH. HYPERGONADOTROPHIC OVARIAN FAILURE
CS Wright, HS Jacobs |
BJOG: An International Journal of Obstetrics and Gynaecology | 1979 |
LOW URINARY ESTRIOL DURING PREGNANCY CAUSED BY ISOLATED FETAL ACTH-DEFICIENCY
M Zachmann, J Girard, G Duc, R Illig, A Prader |
Acta Paediatrica | 1979 |
Mineralocorticoid-induced blood pressure, electrolyte, and hormone changes, and reversal with spironolactone, in healthy men
MG Nicholls, LE Ramsay, K Boddy, R Fraser, JJ Morton, JI Robertson |
Metabolism | 1979 |
The syndromes of primary hormone resistance
GF Verhoeven, JD Wilson |
Metabolism | 1979 |
Mechanisms establishing the mineralocorticoid hormone patterns in the 17α-hydroxylase deficiency syndrome
EG Biglieri |
Journal of Steroid Biochemistry | 1979 |
Hormonal Steroids
W Nowaczynski, P Landais, T Murakami, M Nowaczynski, D Mavoungou, B Vitullo |
Hormonal Steroids | 1979 |
Advances in Internal Medicine and Pediatrics/Ergebnisse der Inneren Medizin und Kinderheilkunde
P Frick, GA Harnack, GA Martini, A Prader, R Schoen, HP Wolff |
1979 | |
ABNORMALITIES OF GONADAL FUNCTION IN MEN
WD Odell, RS Swerdloff |
Clinical Endocrinology | 1978 |
ENDOCRINE STUDIES IN MALE PSEUDOHERMAPHRODITISM IN CHILDHOOD AND ADOLESCENCE
MO Savage, JL Chaussain, D Evain, M Roger, P Canlorbe, JC Job |
Clinical Endocrinology | 1978 |
Hypertension Due to 17α-Hydroxylase Deficiency
C Wang, RT Yeung, JP Coghlan, CJ Oddie, BA Scoggins, JR Stockigt |
Australian and New Zealand Journal of Medicine | 1978 |
DEXAMETHASONE-RESPONSIVE HYPERTENSION IN YOUNG WOMEN WITH SUPPRESSED RENIN AND ALDOSTERONE
WH Hoefnagels, JA Hofman, AG Smals, JI Drayer, PW Kloppenborg, TJ Benraad |
The Lancet | 1978 |
Low-renin (“primary”) hyperaldosteronism
JB Ferriss, DG Beevers, JJ Brown, R Fraser, AF Lever, PL Padfield, JI Robertson |
American Heart Journal | 1978 |
Hormonal correlates of normal and abnormal follicle growth after puberty in humans and other primates
GT Ross, MB Lipsett |
Clinics in Endocrinology and Metabolism | 1978 |
Urinary steroid excretion in 17α-hydroxylase deficiency
JW Honour, J Tourniaire, EG Biglieri, CH Shackleton |
Journal of Steroid Biochemistry | 1978 |
Adrenocortical Hypertension
MI New, LS Levine |
Pediatric Clinics of North America | 1978 |
The incomplete male
MO Savage, DB Grant |
Archives of disease in childhood | 1978 |
Klinik der inneren Sekretion
A Labhart |
1978 | |
Hereditary Male Pseudohermaphroditism
JE Griffin, JD Wilson |
1978 | |
Male pseudohermaphroditism: Genetics and Clinical delineation
JL Simpson |
Human Genetics | 1978 |
Concurrent hypercortisolism and hypermineralocorticoidism
MJ Hogan, M Schambelan, EG Biglieri |
The American Journal of Medicine | 1977 |
Effects of treatment with mineralocorticoids on late steps of aldosterone biosynthesis in the rat
U Hunziker, J Muller |
Journal of Steroid Biochemistry | 1977 |
Metabolic Bone Disease
OL Bijvoet |
Metabolic Bone Disease | 1977 |
Partial Androgen Insensitivity: The Reifenstein Syndrome Revisited
JA Amrhein, GJ Klingensmith, PC Walsh, VA McKusick, CJ Migeon |
New England Journal of Medicine | 1977 |
Sexual infantilism related to adrenogenital syndrome in conjunction with a chromosomal defect
JH Check, AF Goldfarb, AE Rakoff, L Jackson |
American Journal of Obstetrics and Gynecology | 1977 |
Aktuelle Probleme der pädiatrischen Endokrinologie
W Swoboda, H Zimprich |
1977 | |
Aldosterone receptors and the evaluation of plasma mineralocorticoid activity in normal and hypertensive states
JD Baxter, M Schambelan, DT Matulich, BJ Spindler, AA Taylor, FC Bartter |
Journal of Clinical Investigation | 1976 |
A PERSPECTIVE ON ALDOSTERONE ABNORMALITIES
EG Biglieri |
Clinical Endocrinology | 1976 |
MALE PSEUDOHERMAPHRODITISM WITH HYPERTENSION DUE TO A 17α-HYDROXYLATION DEFICIENCY
J Tourniaire, L Audi-Parera, B Loras, J Blum, P Castelnovo, MG Forest |
Clinical Endocrinology | 1976 |
Male hypogonadism
WD Odell, RS Swerdloff |
The Western journal of medicine | 1976 |
The diagnosis and management of disorders of aldosterone production
P Mulrow, R Noth, A Fernandez-Cruz |
Pharmacology & Therapeutics Part C Clinical Pharmacology and Therapeutics | 1976 |
New mineralocorticoids and adrenocorticosteroids in hypertension
JC Melby, SL Dale |
The American Journal of Cardiology | 1976 |
Fluid and electrolyte metabolism in the newborn infant
WS Uttley, AH Habel |
Clinics in Endocrinology and Metabolism | 1976 |
Male pseudohermaphroditism: The complexities of male phenotypic development
J Imperato-McGinley, RE Peterson |
The American Journal of Medicine | 1976 |
Studies in a phenotypic female with 17-α-hydroxylase deficiency
AK Kershnar, D Borut, MD Kogut, EG Biglieri, M Schambelan |
The Journal of Pediatrics | 1976 |
Proceedings of the Fourth International Congress on Hormonal Steroids
RK Kalkhoff |
Proceedings of the Fourth International Congress on Hormonal Steroids | 1976 |
The adrenal cortex and hypertension: Some observations on a possible role for mineralocorticoids other than aldosterone
R Fraser, JJ Brown, WC Brown, JB Ferriss, A Kennedy, AF Lever, PA Mason, JJ Morton, MG Nicholls, LE Ramsay, JI Robertson, MA Schalekamp, A Wilson |
Journal of Steroid Biochemistry | 1976 |
Evaluation and Management of the Child with Delayed Pubertal Development**Supported by National Foundation-March of Dimes Grant 1-323, C-199, and 5-71
E Wallach, AW Root, EO Reiter |
Fertility and Sterility | 1976 |
Female phenotype in a male child due to 17-alpha-hydroxylase deficiency
GF Heremans, AJ Moolenaar, HH van Gelderen |
Archives of disease in childhood | 1976 |
Failure of Components of the Negative Feedback System
H Jacobs |
1976 | |
The structure and function of the corpus luteum
GS Jones, AC Wentz |
1976 | |
Radioimmunoassay of Serum Deoxycorticosterone: Normal Values and Changes of Serum Deoxy-corticosterone after Adrenal Stimulation
M Schöneshöfer, W Oelkers, H Harendt |
Clinical Chemistry and Laboratory Medicine | 1975 |
Adrenal steroidogenesis in “low renin” or hyporeninemic hypertension
JC Melby, SL Dale |
Journal of Steroid Biochemistry | 1975 |
The development and application of a radioimmunoassay for 18-hydroxy-corticosterone
VI Martin, CR Edwards, EG Biglieri, GP Vinson, FC Bartter |
Steroids | 1975 |
Essentials of Gynecologic and Obstetric Endocrinology
H Bacchus |
1975 | |
Handbook of Genetics
RC King |
1975 | |
The Renin-Angiotensin System
S Oparil, E Haber |
New England Journal of Medicine | 1974 |
Current Topics in Experimental Endocrinology
M Jutisz, C Tertrin-Clary |
Current Topics in Experimental Endocrinology | 1974 |
Familial Incomplete Male Pseudohermaphroditism, Type 1: Evidence for Androgen Resistance and Variable Clinical Manifestations in a Family with the Reifenstein Syndrome
JD Wilson, MJ Harrod, JL Goldstein, DL Hemsell, PC MacDonald |
New England Journal of Medicine | 1974 |
The adrenal cortex (excluding aldosteronism)
AW Steinbeck, HM Theile |
Clinics in Endocrinology and Metabolism | 1974 |
Surgery and the Adrenal Cortex
T Bledsoe |
Surgical Clinics of North America | 1974 |
Angiotensin
IH Page, FM Bumpus |
1974 | |
PRIMARY AMENORRHOEA WITH HYPERTENSION DUE TO 17-HYDROXYLASE DEFICIENCY
WE Lange, A Weeke, W Artz, W Jansen, H Doorenbos |
Acta Medica Scandinavica | 1973 |
Aldosterone: Review of its physiology and diagnostic aspects of primary aldosteronism
R Horton |
Metabolism | 1973 |
Significant associations of adrenal cortical abnormalities with “essential” hypertension
RP Russell, AT Masi |
The American Journal of Medicine | 1973 |
Endocrinology of puberty
AW Root |
The Journal of Pediatrics | 1973 |
Systemic lupus erythematosus with adrenal insufficiency
HL Eichner, M Schambelan, EG Biglieri |
The American Journal of Medicine | 1973 |
The use of spironolactone in the diagnosis and the treatment of hypertension associated with mineralocorticoid excess
DG Beevers, JJ Brown, JB Ferriss, R Fraser, AF Lever, JI Robertson |
American Heart Journal | 1973 |
Aldosteronism Updated
MH Weinberger, JP Donohue |
The Journal of Urology | 1973 |
The generation and maintenance of metabolic alkalosis
DW Seldin, FC Rector |
Kidney International | 1972 |
STEROID 17, 20-DESMOLASE DEFICIENCY: A NEW CAUSE OF MALE PSEUDOHERMAPHRODITISM
M Zachmann, JA Völlmin, W Hamilton, A Prader |
Clinical Endocrinology | 1972 |
URINARY PREGNANEDIOL AND PREGNANETRIOL IN THE SALT-LOSING AND NONSALT-LOSING FORMS OF C-21-HYDROXYLASE DEFICIENCY
W Hamilton, CE Gray |
Clinical Endocrinology | 1972 |
APPARENTLY ISOLATED EXCESS DEOXYCORTICOSTERONE IN HYPERTENSION
JJ Brown, R Fraser, DR Love, JB Ferriss, AF Lever, JI Robertson, A Wilson |
The Lancet | 1972 |
Hypertension with aldosterone excess
JJ Brown, R Fraser, AF Lever, JI Robertson |
British medical journal | 1972 |
Aldosterone: Physiological and pathophysiological variations in man
JJ Brown, R Fraser, AF Lever, JI Robertson |
Clinics in Endocrinology and Metabolism | 1972 |
Adrenocorticotropic hormone unresponsiveness: Report of a girl with excessive growth and review of 16 reported cases
AK Kershnar, TF Roe, MD Kogut |
The Journal of Pediatrics | 1972 |
Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone
RP Kelch, SL Kaplan, EG Biglieri, GH Daniels, CJ Epstein, MM Grumbach |
The Journal of Pediatrics | 1972 |
Renin, angiotensin and aldosterone system in pathogenesis and management of hypertensive vascular disease
JH Laragh, L Baer, HR Brunner, FR Buhler, JE Vaughan |
The American Journal of Medicine | 1972 |
Adrenal mineralocorticoids causing hypertension
EG Biglieri, JR Stockigt, M Schambelan |
The American Journal of Medicine | 1972 |
Fetal-Placental Disorders
LD Longo |
Fetal-Placental Disorders | 1972 |
Isolated Hypoaldosteronism in Adults: A Renin-Deficiency Syndrome
M Schambelan, JR Stockigt, EG Biglieri |
New England Journal of Medicine | 1972 |
Low Renin Hypertension and the Adrenal Cortex
D Deykin, C Balko, RF Spark |
New England Journal of Medicine | 1972 |
The Routine Hypertensive Work-up
EK Chung, RM Bagwe, HM Perry |
Postgraduate Medicine | 1972 |
Hypertension — 1972
J Genest, E Koiw |
1972 | |
Hypertension due to Endocrine Disorders
N Shimizu |
Juntendo Medical Journal | 1972 |
Hypermineralocorticoidismus und Hypertonie
HP Wolff, S Abdelhamid |
Klinische Wochenschrift | 1971 |
Fecal and salivary electrolytes in the diagnosis of primary aldosteronism
DR Wilson, JC Laidlaw, JL Ruse |
Canadian Medical Association journal | 1971 |
Low-renin essential hypertension—another form of childhood hypertension
AB Gruskin, M Linshaw, ML Cote, DS Fleisher |
The Journal of Pediatrics | 1971 |
Mineralocorticoid production in hyperadrenocorticism
M Schambelan, PE Slaton, EG Biglieri |
The American Journal of Medicine | 1971 |
The Management of Hypertension Associated with Disorders of Function of the Endocrine Glands (“Endocrine Hypertension“)
L Kornel, M Riddle, TB Schwartz |
Medical Clinics of North America | 1971 |
Differential diagnosis of etiologic types of hypertension
HP Dustan, RC Tarazi, EL Bravo |
Progress in Cardiovascular Diseases | 1971 |
Vierundzwanzigste Österreichische Ärztetagung Wien Van-Swieten-Kongreß
G Harrer |
1971 | |
Male pseudohermaphroditism due to 17α-hydroxylase deficiency
MI New |
Journal of Clinical Investigation | 1970 |
The onset of effect of ACTH, angiotensin II and raised plasma potassium concentration on the adrenal cortex
JR Blair-West, JP Coghlan, DA Denton, BA Scoggins, EM Wintour, RD Wright |
Steroids | 1970 |
Hypokalemia with normal blood pressure, aldosterone and renin levels secondary to a renal or adrenal tumor
MP Fichman, MG Crane, JE Bethune |
The American Journal of Medicine | 1970 |
Interference in the Measurement of Plasma 11-Hydroxycorticosteroids Caused by Spironolactone Administration
LC Wood, R Richards, SH Ingbar |
New England Journal of Medicine | 1970 |
Kongenitale Nebennierenrindenhyperplasie mit maximaler Virilisierung (penile urethra): Kasuistik der Weltliteratur und ein eigener Beitrag
H Stolecke |
European Journal of Pediatrics | 1970 |
Aldosterone and electrolyte balance in human hypertension
J Genest, W Nowaczynski |
Journal of the Royal College of Physicians of London | 1970 |
Non-tumorous "primary" aldosteronism. I. Type relieved by glucocorticoid (glucocorticoid-remediable aldosteronism)
IS Salti, M Stiefel, JL Ruse, JC Laidlaw |
Canadian Medical Association journal | 1969 |
Immunologic aspects of adrenocortical insufficiency
KD Wuepper, LC Wegienka, HH Fudenberg |
The American Journal of Medicine | 1969 |
Development of Endocrine Function in the Human Placenta and Fetus
DB Villee |
New England Journal of Medicine | 1969 |
Infertility
AL Case, FP Zuspan |
Surgical Clinics of North America | 1969 |
The Control of Aldosterone Secretion and Its Relationship to the Diagnosis of Hyperaldosteronism
R Fraser, JJ Brown, R Chinn, AF Lever, JI Robertson |
Scottish Medical Journal | 1969 |
FÜnfundsiebzigster Kongress
B Schlegel |
1969 | |
Die Hypokaliämien
AF Muller, R Veyrat, A Grandchamp |
Klinische Wochenschrift | 1968 |
PLASMA ELECTROLYTES, RENIN, AND ALDOSTERONE IN THE DIAGNOSIS OF PRIMARY HYPERALDOSTERONISM
JJ Brown, RH Chinn, DL Davies, G Düsterdieck, R Fraser, AF Lever, JI Robertson, M Tree, A Wiseman |
The Lancet | 1968 |
Hypertension and excretion of 1-Oxygenated steroids
RW Edwards, DR Harvey, E Knight-Jones |
Archives of disease in childhood | 1968 |
Hypermineralocorticoidism
EG Biglieri, PE Slaton, M Schambelan, SJ Kronfield |
The American Journal of Medicine | 1968 |
Proceedings of the 1967 Laurentian Hormone Conference
DL Rimoin, TJ Merimee, D Rabinowitz, VA Mckusick |
Proceedings of the 1967 Laurentian Hormone Conference | 1968 |
Urinary neutral steroid profile analysis in adults and infants
CH Shackleton, AL Charro-Salgado, FL Mitchell |
Clinica Chimica Acta | 1968 |
Metabolic Studies on Hypertensive Patients with Suppressed Plasma Renin Activity Not Due to Hyperaldosteronism
OM Helmer, WE Judson |
Circulation | 1968 |
Incidence of Suppressed Renin Activity and of Normokalemic Primary Aldosteronism in Hypertensive Negro Patients
MC Creditor, UK Loschky |
Circulation | 1968 |
Nierenkrankheiten
H Schwiegk, E Buchborn, K Čapek, P Deetjen, J Eigler, K Federlin, R Heintz, J Heller, H Jesserer, A Kleinschmidt, F Krück, J Martínek, EF Pfeiffer, R Richterich, G Riecker, K Thurau, F Wahlig, H Wirz, HU Zollinger |
1968 | |
Vierundsiebzigster Kongress Gehalten zu Wiesbaden vom 22. April — 25. April 1968
B Schlegel |
1968 | |
Recent Advances in the Medical and Surgical Treatment of Hypertension
RM Tucker, JC Hunt |
The Medical clinics of North America | 1968 |
SYNDROME OF IDIOPATHIC HYPERKALÆMIA AND HYPERTENSION WITH DECREASED PLASMA RENIN ACTIVITY: EFFECTS ON PLASMA RENIN AND ALDOSTERONE OF REDUCING THE SERUM POTASSIUM LEVEL
GS Stokes, JL Gentle, KD Edwards, JH Stewart, BA Scoggins, JP Coghlan |
The Medical Journal of Australia | 1968 |
Proceedings of the 1966 Laurentian Hormone Conference
AM Bongiovanni, WR Eberlein, AS Goldman, M New |
Proceedings of the 1966 Laurentian Hormone Conference | 1967 |
Hypogonadism and Mineralocorticoid Excess: The 17-Hydroxylase Deficiency Syndrome
O Goldsmith, DH Solomon, R Horton |
New England Journal of Medicine | 1967 |
Advances in Metabolic Disorders
G Aurbach, JT Potts |
Advances in Metabolic Disorders | 1964 |
Antihypertensive Agents
ED Freis |
New England Journal of Medicine | 1962 |
Verhandlungen der Deutschen Gesellschaft für Innere Medizin
B Schlegel |
1962 | |
Aldosterone
B Zimmermann, WH Moran |
The American Journal of Surgery | 1960 |
Ergebnisse der Inneren Medizin und Kinderheilkunde
L Heilmeyer, R Schoen, B Rudder |
1960 | |
Urology in Childhood
DI Williams |
1958 |