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Citations to this article

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
V Verkarre, … , J M Saudubray, C Junien
V Verkarre, … , J M Saudubray, C Junien
Published October 1, 1998
Citation Information: J Clin Invest. 1998;102(7):1286-1291. https://doi.org/10.1172/JCI4495.
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Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

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Abstract

Congenital hyperinsulinism, or persistent hyperinsulinemic hypoglycemia of infancy (PHHI), is a glucose metabolism disorder characterized by unregulated secretion of insulin and profound hypoglycemia. From a morphological standpoint, there are two types of histopathological lesions, a focal adenomatous hyperplasia of islet cells of the pancreas in approximately 30% of operated sporadic cases, and a diffuse form. In sporadic focal forms, specific losses of maternal alleles (LOH) of the imprinted chromosomal region 11p15, restricted to the hyperplastic area of the pancreas, were observed. Similar mechanisms are observed in embryonal tumors and in the Beckwith-Wiedemann syndrome (BWS), also associated with neonatal but transient hyperinsulinism. However, this region also contains the sulfonylurea receptor (SUR1) gene and the inward rectifying potassium channel subunit (KIR6.2) gene, involved in recessive familial forms of PHHI, but not known to be imprinted. Although the parental bias in loss of maternal alleles did not argue in favor of their direct involvement, the LOH may also unmask a recessive mutation leading to persistent hyperinsulinism. We now report somatic reduction to hemizygosity or homozygosity of a paternal SUR1 constitutional heterozygous mutation in four patients with a focal form of PHHI. Thus, this somatic event which leads both to beta cell proliferation and to hyperinsulinism can be considered as the somatic equivalent, restricted to a microscopic focal lesion, of constitutional uniparental disomy associated with unmasking of a heterozygous parental mutation leading to a somatic recessive disorder.

Authors

V Verkarre, J C Fournet, P de Lonlay, M S Gross-Morand, M Devillers, J Rahier, F Brunelle, J J Robert, C Nihoul-Fékété, J M Saudubray, C Junien

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Citations to this article (318)

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Nature Reviews Endocrinology 2011
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia :
B Glaser, I Blech, Y Krakinovsky, J Ekstein, D Gillis, K Mazor-Aronovitch, H Landau, D Abeliovich
Genetics in Medicine 2011
Fetal and Neonatal Physiology
LH Johnson, VK Bhutani
Fetal and Neonatal Physiology 2011
Fanaroff and Martin's Neonatal–Perinatal Medicine
RJ Martin, AA Fanaroff, MC Walsh
Fanaroff and Martin's Neonatal–Perinatal Medicine 2011
KATP channel mutations in congenital hyperinsulinism
C Saint-Martin, JB Arnoux, P Lonlay, C Bellanné-Chantelot
Seminars in Pediatric Surgery 2011
Morphologic analysis of focal and diffuse forms of congenital hyperinsulinism
J Rahier, Y Guiot, C Sempoux
Seminars in Pediatric Surgery 2011
Familial Focal Congenital Hyperinsulinism
D Ismail, VV Smith, P de Lonlay, MJ Ribeiro, J Rahier, O Blankenstein, SE Flanagan, C Bellanné-Chantelot, V Verkarre, Y Aigrain, A Pierro, S Ellard, K Hussain
The Journal of clinical endocrinology and metabolism 2011
Role of 18F-DOPA PET/CT imaging in congenital hyperinsulinism
D Ismail, K Hussain
Reviews in Endocrine and Metabolic Disorders 2010
Pancreatic β-cell KATP channels: Hypoglycaemia and hyperglycaemia
K Bennett, C James, K Hussain
Reviews in Endocrine and Metabolic Disorders 2010
Focal congenital hyperinsulinism in a patient with septo-optic dysplasia
R Padidela, RR Kapoor, Y Moyo, C Gilbert, SE Flanagan, S Ellard, K Hussain
Nature Reviews Endocrinology 2010
Phenotype Prediction of Non-Synonymous Single-Nucleotide Polymorphisms in Human ATP-Binding Cassette Transporter Genes
LL Wang, YH Liu, LL Meng, CG Li, SF Zhou
Basic & Clinical Pharmacology & Toxicology 2010
ATP-Binding Cassette Proteins Involved in Glucose and Lipid Homeostasis
M MATSUO
Bioscience, Biotechnology, and Biochemistry 2010
Congenital Hyperinsulinism in Brazilian Neonates: A Study of Histology, KATP Channel Genes, and Proliferation of β Cells
SM Lovisolo, BB Mendonça, EM Pinto, TD Manna, PH Saldiva, MC Zerbini
Pediatric and Developmental Pathology 2010
Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
SE Flanagan, AM Patch, S Ellard
Genetic Testing and Molecular Biomarkers 2010
Advances in the diagnosis and management of hyperinsulinemic hypoglycemia
RR Kapoor, C James, K Hussain
Nature clinical practice. Endocrinology & metabolism 2009
Persistent hypoglycemia in a child with a gastrocolic fistula—an unexpected presentation of leucine-sensitive hypoglycemia
DD Lee, EF Hollinger, AW Kim, MJ Holterman
Journal of Pediatric Surgery 2009
Update of mutations in the genes encoding the pancreatic beta-cell KATPchannel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism
SE Flanagan, S Clauin, C Bellann��-Chantelot, P Lonlay, LW Harries, AL Gloyn, S Ellard
Human Mutation 2009
The spectrum ofABCC8mutations in Norwegian patients with congenital hyperinsulinism of infancy
T Sandal, LB Laborie, K Brusgaard, SÅ Eide, HB Christesen, O Søvik, PR Njølstad, A Molven
Clinical Genetics 2009
Hyperinsulinismus bei Säuglingen und Kindern: wenn ein Insulinspiegel nicht immer ausreicht / Hyperinsulinism in infancy and childhood: when an insulin level is not always enough1)
AA Palladino, MJ Bennett, CA Stanley
LaboratoriumsMedizin 2009
Hyperinsulinism in Infancy and Childhood: When an Insulin Level Is Not Always Enough
AA Palladino, MJ Bennett, CA Stanley
Clinical chemistry 2008
Dominant versus recessive: Molecular mechanisms in metabolic disease
J Zschocke
Journal of Inherited Metabolic Disease 2008
Fluorine-18 DOPA-PET and PET/CT Imaging in Congenital Hyperinsulinism
M Houseni, W Chamroonrat, H Zhuang, MG Hernandez-Pampolini, A Alavi
PET Clinics 2008
Adult diffuse nesidioblastosis: genetically or environmentally induced?
G Klöppel, M Anlauf, A Raffel, A Perren, WT Knoefel
Human Pathology 2008
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation
HB Christesen, ND Tribble, A Molven, J Siddiqui, T Sandal, K Brusgaard, S Ellard, PR Njolstad, J Alm, BB Jacobsen, K Hussain, AL Gloyn
European Journal of Endocrinology 2008
Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia of Infancy
K Hussain
Hormone Research in Pædiatrics 2007
The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children
MJ Ribeiro, N Boddaert, C Bellanné-Chantelot, S Bourgeois, V Valayannopoulos, T Delzescaux, F Jaubert, C Nihoul-Fékété, F Brunelle, P Lonlay
European Journal of Nuclear Medicine and Molecular Imaging 2007
Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies
M Muzyamba, T Farzaneh, P Behe, A Thomas, HB Christesen, K Brusgaard, K Hussain, A Tinker
Clinical Endocrinology 2007
Monogenic disorders of the pancreatic β-cell: personalizing treatment for rare forms of diabetes and hypoglycemia
M de Bunt, AL Gloyn
Personalized Medicine 2007
Congenital hyperinsulinism ? a review of the disorder and a discussion of the anesthesia management
OT Hardy, RS Litman
Pediatric Anesthesia 2007
Mesenchymal Hamartoma of the Liver Associated with Features of Beckwith-Wiedemann Syndrome and High Serum Alpha-fetoprotein Levels
MM Cajaiba, C Sarita-Reyes, E Zambrano, M Reyes-Múgica
Pediatric and Developmental Pathology 2007
Multiple ectopic lesions of focal islet adenomatosis identified by positron emission tomography scan in an infant with congenital hyperinsulinism
WH Peranteau, SM Bathaii, B Pawel, O Hardy, A Alavi, CA Stanley, NS Adzick
Journal of Pediatric Surgery 2007
Neonatal hyperinsulinism: clinicopathologic correlation
P Delonlay, A Simon, L Galmiche-Rolland, I Giurgea, V Verkarre, Y Aigrain, MJ Santiago-Ribeiro, M Polak, JJ Robert, C Bellanne-Chantelot, F Brunelle, C Nihoul-Fekete, F Jaubert
Human Pathology 2007
Positron Emission Tomography Imaging and Hyperinsulinism
M Hernandez-Pampaloni, H Zhuang, S Fanti, A Alavi
PET Clinics 2007
PET Scanning for Infants with HHI: A Small Step for Affected Infants, A Giant Leap for the Field
MA Sperling
The Journal of Pediatrics 2007
Diagnosis and Localization of Focal Congenital Hyperinsulinism by 18F-Fluorodopa PET Scan
OT Hardy, M Hernandez-Pampaloni, JR Saffer, M Suchi, E Ruchelli, H Zhuang, A Ganguly, R Freifelder, NS Adzick, A Alavi, CA Stanley
The Journal of Pediatrics 2007
Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates
DD de León, CA Stanley
Nature Clinical Practice Endocrinology & Metabolism 2007
Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy
JP Shield, SE Flanagan, DJ Mackay, LW Harries, P Proks, C Girard, FM Ashcroft, IK Temple, S Ellard
Diabetes 2007
Pädiatrie
MJ Lentze, FJ Schulte, J Schaub, J Spranger
Pädiatrie 2007
Transient Receptor Potential Cation Channels in Disease
B Nilius, G Owsianik, T Voets, JA Peters
Physiological reviews 2007
Accuracy of [18F]Fluorodopa Positron Emission Tomography for Diagnosing and Localizing Focal Congenital Hyperinsulinism
OT Hardy, M Hernandez-Pampaloni, JR Saffer, JS Scheuermann, LM Ernst, R Freifelder, H Zhuang, C MacMullen, S Becker, NS Adzick, C Divgi, A Alavi, CA Stanley
The Journal of clinical endocrinology and metabolism 2007
The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children
MJ Ribeiro, N Boddaert, C Bellanné-Chantelot, S Bourgeois, V Valayannopoulos, T Delzescaux, F Jaubert, C Nihoul-Fékété, F Brunelle, PD Lonlay
European Journal of Nuclear Medicine and Molecular Imaging 2007
Clinical features and morphological characterization of 10 patients with noninsulinoma pancreatogenous hypoglycaemia syndrome (NIPHS)
JG Won, HS Tseng, AH Yang, KT Tang, TS Jap, CH Lee, HD Lin, N Burcus, G Pittenger, A Vinik
Clinical Endocrinology 2006
Mutations in the genes encoding the pancreatic beta-cell KATPchannel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism
AL Gloyn, J Siddiqui, S Ellard
Human Mutation 2006
Prenatal Diagnosis and Postnatal Management of Diffuse Congenital Hyperinsulinism: A Case Report
WH Peranteau, A Ganguly, L Steinmuller, P Thornton, MP Johnson, LJ Howell, CA Stanley, NS Adzick
Fetal Diagnosis and Therapy 2006
Understanding protein-sensitive hypoglycemia
JI Wolfsdorf
The Journal of Pediatrics 2006
Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel
I Flechtner, PD Lonlay, M Polak
Diabetes & Metabolism 2006
Hypoglycemia in Newborns and Infants
BH Dekelbab, MA Sperling
Advances in Pediatrics 2006
Pediatric Surgery
PS Puligandla, JM Laberge
Pediatric Surgery 2006
Recent advances in hyperinsulinemic hypoglycemia of infancy
B Dekelbab, M Sperling
Acta paediatrica (Oslo, Norway : 1992) 2006
Pediatric PET Imaging
M Charron
2006
The Diagnosis of Ectopic Focal Hyperinsulinism of Infancy with [18F]-Dopa Positron Emission Tomography
K Hussain, M Seppänen, K Näntö-Salonen, NS Adzick, CA Stanley, P Thornton, H Minn
The Journal of clinical endocrinology and metabolism 2006
Hereditary Hormone Excess: Genes, Molecular Pathways, and Syndromes
SJ Marx, WF Simonds
Endocrine reviews 2005
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism
M Suchi, CM MacMullen, PS Thornton, NS Adzick, A Ganguly, ED Ruchelli, CA Stanley
Modern Pathology 2005
Pancreatic regeneration after near-total pancreatectomy in children with nesidioblastosis
T Berrocal, AÁ Luque, I Pinilla, L Lassaletta
Pediatric Radiology 2005
From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels
K Hussain, KE Cosgrove
Pediatric Diabetes 2005
Persistent Hyperinsulinemic Hypoglycemia in 15 Adults With Diffuse Nesidioblastosis
M Anlauf, D Wieben, A Perren, B Sipos, P Komminoth, A Raffel, ML Kruse, C Fottner, WT Knoefel, H M??nig, PU Heitz, G Kl??ppel
The American Journal of Surgical Pathology 2005
Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy
K Ohkubo, M Nagashima, Y Naito, T Taguchi, S Suita, N Okamoto, H Fujinaga, K Tsumura, K Kikuchi, J Ono
Clinical Endocrinology 2005
p57Kip2 (cdkn1c): sequence, splice variants and unique temporal and spatial expression pattern in the rat pancreas
T Potikha, S Kassem, EP Haber, I Ariel, B Glaser
Laboratory Investigation 2005
Kongenitaler Hyperinsulinismus
T Meissner, E Mayatepek
Monatsschrift Kinderheilkunde 2005
Congenital hyperinsulinism
K Hussain
Seminars in Fetal and Neonatal Medicine 2005
Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism
K Hussain, J Bryan, HT Christesen, K Brusgaard, L Aguilar-Bryan
Diabetes 2005
Pediatric Endocrinology
PS Thornton
Pediatric Endocrinology 2005
L'hyperinsulinisme congénital du nouveau-né et du nourrisson
I Giurgea, MJ Ribeiro, N Boddaert, G Touati, JJ Robert, JM Saudubray, F Jaubert, C Bellanné-Chantelot, F Brunelle, C Nihoul-Fékété, P Lonlay
Archives de Pédiatrie 2005
Hyperinsulinisme persistant du nouveau-né et du nourrisson : traitement chirurgical des lésions pancréatiques focales dans 60 cas
C Crétolle, P Lonlay, F Sauvat, F Brunelle, J Rahier, JM Saudubray, C Nihoul-Fékété
Archives de Pédiatrie 2005
Noninvasive Diagnosis of Focal Hyperinsulinism of Infancy With [18F]-DOPA Positron Emission Tomography
T Otonkoski, K Nanto-Salonen, M Seppanen, R Veijola, H Huopio, K Hussain, P Tapanainen, O Eskola, R Parkkola, K Ekstrom, Y Guiot, J Rahier, M Laakso, R Rintala, P Nuutila, H Minn
Diabetes 2005
Genotype-Phenotype Correlations in Children with Congenital Hyperinsulinism Due to Recessive Mutations of the Adenosine Triphosphate-Sensitive Potassium Channel Genes
MJ Henwood, A Kelly, C MacMullen, P Bhatia, A Ganguly, PS Thornton, CA Stanley
The Journal of clinical endocrinology and metabolism 2005
Nouveautés radiologiques dans le dépistage et le diagnostic des erreurs innées du métabolisme
N Boddaert, M Ribeiro, G Touati, K Mention, V Valayanopoulos, C Nihoul-Fékété, F Brunelle, P de Lonlay
médecine/sciences 2005
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity
S Tornovsky, A Crane, KE Cosgrove, K Hussain, J Lavie, M Heyman, Y Nesher, N Kuchinski, E Ben-Shushan, O Shatz, E Nahari, T Potikha, D Zangen, Y Tenenbaum-Rakover, L Vries, J Argente, R Gracia, H Landau, A Eliakim, K Lindley, MJ Dunne, L Aguilar-Bryan, B Glaser
The Journal of clinical endocrinology and metabolism 2004
Hyperinsulinaemic Hypoglycaemia in Infancy and Childhood - Resolving the Enigma
K Hussain, A Aynsley-Green
Journal of Pediatric Endocrinology and Metabolism 2004
Causes and therapy of hyperinsulinism in infancy
KE Cosgrove, RM Shepherd, EM Fernandez, A Natarajan, MJ Dunne
Current Opinion in Endocrinology & Diabetes 2004
Congenitaal hyperinsulinisme bij een zuigeling: een te genezen ziektebeeld?
FM Visscher-Schuurmans, R Thompson, C Noordam
Tijdschrift voor kindergeneeskunde 2004
Causes and therapy of hyperinsulinism in infancy:
KE Cosgrove, RM Shepherd, EM Fernandez, A Natarajan, MJ Dunne
Current Opinion in Endocrinology & Diabetes 2004
Hyperinsulinemic hypoglycemia in children
P Lonlay
Annales d'Endocrinologie 2004
Neonatal hypoglycaemia: aetiologies
P Lonlay, I Giurgea, G Touati, JM Saudubray
Seminars in Neonatology 2004
Differential diagnosis and management of neonatal hypoglycemia
MA Sperling, RK Menon
Pediatric Clinics of North America 2004
A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy
NS Adzick, PS Thornton, CA Stanley, RD Kaye, E Ruchelli
Journal of Pediatric Surgery 2004
Hyperinsulinism in Infancy: From Basic Science to Clinical Disease
MJ Dunne, KE Cosgrove, RM Shepherd, A Aynsley-Green, KJ Lindley
Physiological reviews 2004
Congenital Hyperinsulinism: Intraoperative Biopsy Interpretation Can Direct the Extent of Pancreatectomy
M Suchi, PS Thornton, NS Adzick, C MacMullen, A Ganguly, CA Stanley, ED Ruchelli
The American Journal of Surgical Pathology 2004
Genetics of Congenital Hyperinsulinism
JC Fournet, C Junien
Endocrine Pathology 2004
Focal and Diffuse Forms of Congenital Hyperinsulinism: The Keys for Differential Diagnosis
C Sempoux, Y Guiot, F Jaubert, J Rahier
Endocrine Pathology 2004
Physiological and pathophysiological roles of ATP-sensitive K+ channels
S Seino, T Miki
Progress in Biophysics and Molecular Biology 2003
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus
EJ Kamsteeg, DG Bichet, IB Konings, H Nivet, M Lonergan, MF Arthus, CH van Os, PM Deen
The Journal of Cell Biology 2003
Persistent hyperinsulinemic hypoglycemia of infancy
MM Cohen
American Journal of Medical Genetics 2003
ABC Proteins
PA Rea, R Sánchez-Fernández, S Chen, M Peng, M Klein, M Geisler, E Martinoia
ABC Proteins 2003
Surgery of persistent hyperinsulinaemic hypoglycaemia
KJ Lindley, L Spitz
Seminars in Neonatology 2003
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma
Christine Sempoux, Yves Guiot, Karin Dahan, Pierre Moulin, Martine Stevens, Virginie Lambot, Pascale de Lonlay, Jean-Christophe Fournet, Claudine Junien, Francis Jaubert, Claire Nihoul-Fekete, Jean-Marie Saudubray, Jacques Rahier
Diabetes 2003
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation
Anders Molven, Guri E Matre, Marinus Duran, Ronald J Wanders, Unni Rishaug, Pål R Njølstad, Egil Jellum, Oddmund Søvik
Diabetes 2003
Histopathology of Congenital Hyperinsulinism: Retrospective Study with Genotype Correlations
M Suchi, C MacMullen, PS Thornton, A Ganguly, CA Stanley, ED Ruchelli
Pediatric and Developmental Pathology 2003
Overgrowth
G Ambler
Best Practice & Research Clinical Endocrinology & Metabolism 2002
Hunting for a hypoglycemia gene: Severe neonatal hypoglycemia in a consanguineous family
A Molven, U Rishaug, GE Matre, PR Nj�lstad, O S�vik
American Journal of Medical Genetics 2002
Facial appearance in persistent hyperinsulinemic hypoglycemia
P Lonlay, V Cormier-Daire, J Amiel, G Touati, A Goldenberg, JC Fournet, F Brunelle, C Nihoul-F�k�t�, J Rahier, C Junien, JJ Robert, JM Saudubray
American Journal of Medical Genetics 2002
Persistent hyperinsulinaemic hypoglycaemia
P Lonlay, G Touati, JJ Robert, JM Saudubray
Seminars in Neonatology 2002
Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: A report of 45 cases from 1983 to 2000
C Crétolle, CN Fékété, D Jan, MC Nassogne, JM Saudubray, F Brunelle, J Rahier
Journal of Pediatric Surgery 2002
K ATP channels and insulin secretion disorders
H Huopio, SL Shyng, T Otonkoski, CG Nichols
American journal of physiology. Endocrinology and metabolism 2002
Insights into Neonatal Hyperinsulinism
A Kelly, C Alter, P Thornton
The Endocrinologist 2001
Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism
JC Fournet, C Mayaud, P Lonlay, MS Gross-Morand, V Verkarre, M Castanet, M Devillers, J Rahier, F Brunelle, JJ Robert, C Nihoul-Fékété, JM Saudubray, C Junien
The American Journal of Pathology 2001
Synthesis and characterization of a quinolinonic compound activating ATP-sensitive K(+) channels in endocrine and smooth muscle tissues
B Becker, MH Antoine, QA Nguyen, B Rigo, KE Cosgrove, PD Barnes, MJ Dunne, B Pirotte, P Lebrun
British Journal of Pharmacology 2001
Exercise induced hypoglycaemic hyperinsulinism
T Meissner, T Otonkoski, R Feneberg, B Beinbrech, S Apostolidou, I Sipilä, F Schaefer, E Mayatepek
Archives of disease in childhood 2001
Hyperinsulinism in syndromal disorders
T Meissner, W Rabl, K Mohnike, S Scholl, R Santer, E Mayatepek
Acta Paediatrica 2001
Case 39-2001
RC Cabot, RE Scully, EJ Mark, WF McNeely, JA Shepard, SH Ebeling, SM Ellender, CC Peters, A Sadeghi-Nejad, FM Graeme-Cook
New England Journal of Medicine 2001
Dysregulation of Insulin Secretion in Children With Congenital Hyperinsulinism due to Sulfonylurea Receptor Mutations
A Grimberg, RJ Ferry, A Kelly, S Koo-McCoy, K Polonsky, B Glaser, MA Permutt, L Aguilar-Bryan, D Stafford, PS Thornton, L Baker, CA Stanley
Diabetes 2001
Heart Physiology and Pathophysiology
NS Dhalla, RM Temsah, T Netticadan, MS Sandhu
Heart Physiology and Pathophysiology 2001
The Parathyroids
SJ Marx
The Parathyroids 2001
Hyperinsulinismes
P Lonlay-Debeney, JC Fournet, G Touati, JJ Robert, C Junien, JM Saudubray
Archives de Pédiatrie 2001
Hyperinsulinism of Infancy: The Regulated Release of Insulin by KATP Channel--Independent Pathways
SG Straub, KE Cosgrove, C Ammala, RM Shepherd, RE O'Brien, PD Barnes, N Kuchinski, JC Chapman, M Schaeppi, B Glaser, KJ Lindley, GW Sharp, A Aynsley-Green, MJ Dunne
Diabetes 2001
Molecular Basis of Pancreas Development and Function
JF Habener, MA Hussain
2001
Fetal Macrosomia: Etiologic Factors
O Langer
Clinical Obstetrics and Gynecology 2000
Familial hyperinsulinism and pancreatic β-cell ATP-sensitive potassium channels
N Sharma, A Crane, G Gonzalez, J Bryan, L Aguilar-Bryan
Kidney International 2000
Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism
H Kentrup, J Altmüller, S Karhausen, ΒP Hauffa, R Pfaffle, G Heimann
International Journal on Disability and Human Development 2000
Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy
RM Shepherd, KE Cosgrove, RE O'Brien, PD Barnes, C Ammälä, MJ Dunne
Archives of disease in childhood. Fetal and neonatal edition 2000
Genetics of neonatal hyperinsulinism
B Glaser, P Thornton, T Otonkoski, C Junien
Archives of disease in childhood. Fetal and neonatal edition 2000
Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis
J Rahier, Y Guiot, C Sempoux
Archives of disease in childhood. Fetal and neonatal edition 2000
Ions, genes and insulin release: from basic science to clinical disease Based on the 1998 R. D. Lawrence Lecture
MJ Dunne
Diabetic Medicine 2000
Channelopathies
C Fahlke
Channelopathies 2000
Hyperinsulinism of the newborn
B Glaser
Seminars in Perinatology 2000
Hypoglycemia in Beckwith-Wiedemann syndrome
MR DeBaun, AA King, N White
Seminars in Perinatology 2000
Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism
RJ Ferry, A Kelly, A Grimberg, S Koo-McCoy, MJ Shapiro, KE Fellows, B Glaser, L Aguilar-Bryan, DE Stafford, CA Stanley
The Journal of Pediatrics 2000
Patologia molecular do receptor de sulfoniluréia (SUR1)
AF Reis, G Velho
Arquivos brasileiros de endocrinologia e metabologia 2000
Functional Analysis of a Mutant Sulfonylurea Receptor, SUR1-R1420C, That Is Responsible for Persistent Hyperinsulinemic Hypoglycemia of Infancy
M Matsuo, S Trapp, Y Tanizawa, N Kioka, T Amachi, Y Oka, FM Ashcroft, K Ueda
The Journal of biological chemistry 2000
Sur1 Knockout Mice: A MODEL FOR K ATP CHANNEL-INDEPENDENT REGULATION OF INSULIN SECRETION
V Seghers, M Nakazaki, F DeMayo, L Aguilar-Bryan, J Bryan
The Journal of biological chemistry 2000
Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis
JM Saudubray, PD Lonlay, G Touati, D Martin, MC Nassogne, P Castelnau, C Sevin, C Laborde, C Baussan, M Brivet, A Vassault, D Rabier, JP Bonnefont, P Kamoun
Journal of Inherited Metabolic Disease 2000
GENETIC MUTATIONS AS A CAUSE OF HYPERINSULINEMIC HYPOGLYCEMIA IN CHILDREN
PM Thomas
Endocrinology & Metabolism Clinics of North America 1999
HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
MA Sperling, RK Menon
Endocrinology & Metabolism Clinics of North America 1999
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism
B Glaser, J Furth, CA Stanley, L Baker, PS Thornton, H Landau, MA Permutt
Human Mutation 1999
Congenital hyperinsulinism: Molecular basis of a heterogeneous disease
T Meissner, B Beinbrech, E Mayatepek
Human Mutation 1999
An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus
EJ Kamsteeg, TA Wormhoudt, JP Rijss, CH van Os, PM Deen
The EMBO Journal 1999
Potassium Channels, Sulphonylurea Receptors and Control of Insulin Release
MJ Dunne, KE Cosgrove, RM Shepherd, C Ämmälä
Trends in Endocrinology & Metabolism 1999
Clinical Features of 52 Neonates with Hyperinsulinism
P Lonlay-Debeney, F Poggi-Travert, JC Fournet, C Sempoux, CD Vici, F Brunelle, G Touati, J Rahier, C Junien, C Nihoul-Fékété, JJ Robert, JM Saudubray
New England Journal of Medicine 1999
The Causes of Neonatal Hypoglycemia
CA Stanley, L Baker
New England Journal of Medicine 1999
Engineering a glucose-responsive human insulin-secreting cell line from islets of Langerhans isolated from a patient with persistent hyperinsulinemic hypoglycemia of infancy
WM MacFarlane, JC Chapman, RM Shepherd, MN Hashmi, N Kamimura, KE Cosgrove, RE O'Brien, PD Barnes, AW Hart, HM Docherty, KJ Lindley, A Aynsley-Green, RF James, K Docherty, MJ Dunne
The Journal of biological chemistry 1999

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