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Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.

S P Kwan, … , S Latt, F S Rosen

S P Kwan, … , S Latt, F S Rosen

Published February 1, 1986
Citation Information: J Clin Invest. 1986;77(2):649-652. https://doi.org/10.1172/JCI112351.

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Title and authors	Publication	Year
Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India A Rawat, AK Jindal, D Suri, P Vignesh, A Gupta, B Saikia, RW Minz, AZ Banday, R Tyagi, K Arora, V Joshi, S Mondal, JK Shandilya, M Sharma, M Desai, P Taur, A Pandrowala, V Gowri, S Sawant-Desai, M Gupta, AD Dalvi, M Madkaikar, A Aggarwal, R Raj, R Uppuluri, S Bhattad, A Jayaram, HP Lashkari, L Rajasekhar, D Munirathnam, M Kalra, A Shukla, R Saka, R Sharma, R Garg, K Imai, S Nonoyama, O Ohara, PP Lee, KW Chan, YL Lau, S Singh	Frontiers in immunology	2021
An update on X-Linked agammaglobulinaemia: clinical manifestations and management BM Shillitoe, AR Gennery	Current Opinion in Allergy and Clinical Immunology	2019
Textbook of Pediatric Rheumatology E Silverman, J Buyon, E Jaeggi	Textbook of Pediatric Rheumatology	2016
B Cell Receptor Signaling T Kurosaki, J Wienands	B Cell Receptor Signaling	2015
Primary Immunodeficiency Disorders M Berger, ER Stiehm		2014
Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient LM Lim, JM Chang, IF Wang, WC Chang, DY Hwang, HC Chen	BMC Pediatrics	2013
Colonel Bruton's Kinase Defined the Molecular Basis of X-Linked Agammaglobulinemia, the First Primary Immunodeficiency WN Khan	Journal of immunology (Baltimore, Md. : 1950)	2012
Advances in Immunology E Pinaud, M Marquet, R Fiancette, S Péron, C Vincent-Fabert, Y Denizot, M Cogné	Advances in Immunology Volume 110	2011
IMMUNODEFICIENCIES AND THE RHEUMATIC DISEASES NM Wulffraat, J Montfrans, W Kuis	Textbook of Pediatric Rheumatology	2011
Shared pathways to infectious disease susceptibility? CC Khor, ML Hibberd	Genome Medicine	2010
Analysis of Clinical Presentations of Bruton Disease: A Review of 20 Years of Accumulated Data from Pediatric Patients at Severance Hospital JK Chun, TJ Lee, JW Song, JA Linton, DS Kim	Yonsei Medical Journal	2008
Mutation of the BTK Gene and Clinical Feature of X-Linked Agammaglobulinemia in Mainland China Y Wang, H Kanegane, X Wang, X Han, Q Zhang, S Zhao, Y Yu, J Wang, T Miyawaki	Journal of Clinical Immunology	2008
Genetic analysis of patients with defects in early B-cell development ME Conley, A Broides, V Hernandez-Trujillo, V Howard, H Kanegane, T Miyawaki, SA Shurtleff	Immunological Reviews	2005
Chronic Cutaneous Herpes Simplex in a Patient With Hypogammaglobulinemia KC Kloeckner, B Cristiane, WC Worm, ZM Salete, CT Ferreira	SKINmed	2004
Diagnóstico molecular de inmunodeficiencias primarias MC Rodríguez, EL Granados, RC Martínez, AF Cerdán, GF Casariego	Allergologia et Immunopathologia	2001
X-linked agammaglobulinemia ME Conley, J Rohrer, Y Minegishi	Clinical Reviews in Allergy & Immunology	2000
X-Chromosome Inactivation and Mutation Pattern in the Bruton’s Tyrosine Kinase Gene in Patients with X-linked Agammaglobulinemia V Moschese, P Orlandi, A Plebani, K Arvanitidis, M Fiorini, M Speletas, P Mella, K Ritis, P Sideras, A Finocchi, S Livadiotti, P Rossi	Molecular Medicine	2000
Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia M Vihinen, SP Kwan, T Lester, HD Ochs, I Resnick, J V�liaho, ME Conley, CI Smith	Human Mutation	1999
X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between Xq21.33 and Xq23 AE Chudley, DC Tackels, HA Lubs, JF Arena, WP Stoeber, S Kovnats, RE Stevenson, CE Schwartz	American Journal of Medical Genetics	1999
Comparative Genomics and Host Resistance against Infectious Diseases ST Qureshi, E Skamene, D Malo	Emerging infectious diseases	1999
BTKbase, mutation database for X-linked agammaglobulinemia (XLA) M Vihinen, O Brandau, LJ Brandén, SP Kwan, I Lappalainen, T Lester, JG Noordzij, HD Ochs, J Ollila, SM Pienaar, P Riikonen, BK Saha, CI Smith	Nucleic Acids Research	1998
Encyclopedia of Immunology RL Riley	Encyclopedia of Immunology	1998
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia I Vorřechovský, L Luo, JM Hertz, SS Frøland, T Klemola, M Fiorini, I Quinti, R Paganelli, H Ozsahin, L Hammarström, AD Webster, CI Smith	Human Mutation	1997
Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia RA Brooimans, AJ van den Berg, GT Rijkers, LA Sanders, JK van Amstel, MG Tilanus, MJ Grubben, BJ Zegers	Journal of medical genetics	1997
X-Linked Agammaglobulinemia HD Ochs, CI Smith	Medicine	1996
Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia V Schuster, S Seidenspinner, HW Kreth	American Journal of Medical Genetics	1996
X-linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease PT Mattsson, M Vihinen, CI Smith	BioEssays	1996
Discordant phenotype in siblings with X-linked agammaglobulinemia MJ Bykowsky, RN Haire, Y Ohta, H Tang, SS Sung, ES Veksler, JM Greene, SM Fu, GW Litman, KE Sullivan	The American Journal of Human Genetics	1996
BTKbase, mutation database for X-linked agammaglobulinemia (XLA). Vihinen M, Iwata T, Kinnon C, Kwan SP, Ochs HD, Vorechovský I, Smith CI	Nucleic Acids Research	1996
Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia TL Hagemann, FS Rosen, SP Kwan	Human Mutation	1995
Mutation analysis of the gene encoding Bruton's tyrosine kinase in a family with a sporadic case of X-linked agammaglobulinemia reveals three female carriers TL Hagemann, AH Assa'ad, SP Kwan	American Journal of Medical Genetics	1995
A new RFLP marker, SP282, at thebtk locus for genetic analysis in X-linked agammaglobulinaemia families SP Kwan, AP Walker, T Hagemann, S Gupta, B Vayuvegula, HD Ochs	Prenatal Diagnosis	1994
Role of Bruton's tyrosine kinase in immunodeficiency S Tsukada, DJ Rawlings, ON Witte	Current Opinion in Immunology	1994
X-Linked Agammaglobulinemia and Other Immunoglobulin Deficiencies CI Smith, KB Islam, I Vorechovsky, O Olerup, E Wallin, H Rabbani, B Baskin, L Hammarstrom	Immunological Reviews	1994
X-Linked Agammaglobulinemia: New Approaches to Old Questions based on the Identification of the Defective Gene ME Conley, O Parolini, J Rohrer, D Campana	Immunological Reviews	1994
Bruton's Tyrosine Kinase is a Key Regulator in B-Cell Development DJ Rawlings, ON Witte	Immunological Reviews	1994
Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA) Q Zhu, M Zhang, DJ Rawlings, M Vihinen, T Hagemann, DC Saffran, SP Kwan, L Nilsson, CI Smith, ON Witte, SH Chen, HD Ochs	Journal of Experimental Medicine	1994
Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia Y Ohta, RN Haire, RT Litman, SM Fu, RP Nelson, J Kratz, SJ Kornfeld, M la Morena, RA Good, GW Litman	Proceedings of the National Academy of Sciences	1994
Application of carrier testing to genetic counseling for X-linked agammaglobulinemia RC Allen, RG Nachtman, HM Rosenblatt, JW Belmont	The American Journal of Human Genetics	1994
A Point Mutation in the SH2 Domain of Bruton's Tyrosine Kinase in Atypical X-Linked Agammaglobulinemia DC Saffran, O Parolini, ME Fitch-Hilgenberg, DJ Rawlings, D Afar, ON Witte, ME Conley	New England Journal of Medicine	1994
The molecular pathogenesis of XLA involves a spectrum of mutations in Bruton's tyrosine kinase DC Saffran, ON Witte	Clinical Immunology Newsletter	1994
An exon-skipping mutation in thebtk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency B Duriez, P Duquesnoy, F Dastot, P Bougne`res, S Amselem, M Goossens	FEBS Letters	1994
Breakthroughs in the Understanding and Therapy of Primary Immunodeficiency RH Buckley	Pediatric Clinics of North America	1994
Symposium in Immunology III MM Eibl, C Huber, HH Peter, U Wahn		1994
The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia J Rohrer, O Parolini, ME Conley, JW Belmont	Immunogenetics	1994
Mechanisms of Lymphocyte Activation and Immune Regulation V S Gupta, WE Paul, A DeFranco, RM Perlmutter		1994
Diversity of immunoglobulin χ light chain gene rearrangements and evidence for somatic mutation in VχIV family gene segments in X-linked agammaglobulinemia E Timmers, MM Hermans, ME Kraakman, RW Hendriks, RK Schuurman	European Journal of Immunology	1993
Molecular basis for human immunodeficiencies L Hammarstrom, M Gillner, CI Smith	Current Opinion in Immunology	1993
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases D Vetrie, I Vorechovský, P Sideras, J Holland, A Davies, F Flinter, L Hammarström, C Kinnon, R Levinsky, M Bobrow	Nature	1993
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia S Tsukada, DC Saffran, DJ Rawlings, O Parolini, RC Allen, I Klisak, RS Sparkes, H Kubagawa, T Mohandas, S Quan	Cell	1993
X-linked agammaglobulinemia - gene cloning and future prospects C Kinnon, S Hinshelwood, RJ Levinsky, RC Lovering	Immunology Today	1993
Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia R Levering, AK Sweatman, MA O'Reilly, SA Genet, H Middleton-Price, S Malcolm, RJ Levinsky, C Kinnon	Human Genetics	1993
Carrier Detection in Agammaglobulinemia by X Chromosome Inactivation Analysis T Miyashita, T Iwata, S Mizutani, S Kamoshita, N Kobayashi	Pediatrics International	1992
DIVERSITY IN DNA REARRANGEMENTS AND IN RNA EXPRESSIONS OF IMMUNOGLOBULIN GENE ON COMMON VARIABLE IMMUNODEFICIENCY S Mori, N Kondo, F Motoyoshi, H Kaneko, Y Inoue, T Orii	European Journal of Immunogenetics	1992
Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and α-glactosidase A R Kornreich, KH Astrin, RJ Desnick	Genomics	1992
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation RC Allen, HY Zoghbi, AB Moseley, HM Rosenblatt, JW Belmont	The American Journal of Human Genetics	1992
Sequence and chromosome assignment to 11p13-p12 of human RAG genes Y Ichihara, M Hirai, Y Kurosawa	Immunology Letters	1992
Diagnostische Hämatologie H Huber, H Löffler, D Pastner		1992
Identification of CpG islands around the DXS178 locus in the region of the X-linked agammaglobulinaemia gene locus in Xq22 MA O'Reilly, LA Alterman, S Malcolm, RJ Levinsky, C Kinnon	Human Genetics	1992
Primary Immunodeficiencies: Milestones in the History of Pediatric Immunology GR Burgio, LD Notarangelo, M Duse, AG Ugazio	Pediatric Hematology-Oncology	1991
Genetics of human X-linked immunodeficiency diseases RW Hendriks, RK Schuurman	Clinical & Experimental Immunology	1991
X-Linked Immunodeficiencies Involving the Lymphoid System YL Lau	Pediatric Asthma, Allergy & Immunology	1991
Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency ME Conley, AW Burks, HG Herrod, JM Puck	The Journal of Pediatrics	1991
X-linked agammaglobulinemia E Timmers, M Weers, FW Alt, RW Hendriks, RK Schuurman	Clinical Immunology and Immunopathology	1991
Reaction Patterns of the Lymph Node E Grundmann, E Vollmer		1991
Genetics of human X-linked immunodeficiency diseases. Hendriks RW, Schuurman RK	Clinical & Experimental Immunology	1991
A novel X-linked combined immunodeficiency disease EG Brooks, FC Schmalstieg, DP Wirt, HM Rosenblatt, LT Adkins, DP Lookingbill, HE Rudloff, TA Rakusan, AS Goldman	Journal of Clinical Investigation	1990
Prenatal diagnosis and carrier detection of inherited immunodeficiency disorders A Pelham, C Kinnon, RJ Levinsky	Pediatric Allergy and Immunology	1990
Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus SP Kwan, J Terwilliger, R Parmley, G Raghu, LA Sandkuyl, J Ott, H Ochs, R Wedgwood, F Rosen	Genomics	1990
More precise localization of the gene for Hunter syndrome EL Guern, P Couillin, I Oberlé, N Ravise, J Boue	Genomics	1990
Carrier detection of the X-linked primary immunodeficiency diseases using X-chromosome inactivation analysis JA Winkelstein, E Fearon	Journal of Allergy and Clinical Immunology	1990
X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis JM Puck, RL Nussbaum, DL Smead, ME Conley	The American Journal of Human Genetics	1989
Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia RW Hendriks, EJ Mensink, ME Kraakman, A Thompson, RK Schuurman	Human Genetics	1989
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia S Guioli, B Arveiler, B Bardoni, LD Notarangelo, P Panina, M Duse, A Ugazio, I Oberlé, G de Saint Basile, JL Mandel, G Camerino	Human Genetics	1989
B lymphocytes from X-linked agammaglobulinemia. Delayed expression of light chain and demonstration of Lyonization in carriers J Schwaber, J Payne, R Chen	Journal of Clinical Investigation	1988
Definition of the Gene Loci in X-Linked Immunodeficiencies ME Conley, JM Puck	Immunological Investigations	1988
Genetic prediction in X-linked agammaglobulinaemia YL Lau, RJ Levinsky, S Malcolm, J Goodship, R Winter, M Pembrey, G Neri, JF Reynolds	American Journal of Medical Genetics	1988
Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers SP Kwan, LA Sandkuyl, M Blaese, LM Kunkel, G Bruns, R Parmley, S Skarshaug, DC Page, J Ott, FS Rosen	Genomics	1988
Advances in Genetics BH Bowman, F Yang, GS Adrian	Advances in genetics	1988
Carrier detection in typical and atypical X-linked agammaglobulinemia ME Conley, JM Puck	The Journal of Pediatrics	1988
Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia M Schwartz, , E Niebuhr, T Rosenberg, DC Page	Human Genetics	1988
Early diagnosis in X-linked agammaglobulinaemia RK Schuurman, EJ Mensink, LA Sandkuyl, ED Post, H van Velzen-Blad	European Journal of Pediatrics	1988
Immunodeficiency and Disease AD Webster		1988
Evaluation of Immunity R Hong	Immunological Investigations	1987
X-Linked genetic homologies between mouse and man MT Davisson	Genomics	1987
Genetic mapping of nine DNA markers in the q11 → q22 region of the human X chromosome B Arveiler, I Oberle´, JL Mandel	Genomics	1987
Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis EJ Mensink, A Thompson, JD Schot, ME Kraakman, LA Sandkuyl, RK Schuurman	Clinical Genetics	1987
Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13 GS saint Basile, B Arveiler, I Oberlé, S Malcolm, RJ Levinsky, YL Lau, M Hofker, M Debre, A Fischer, C Griscelli	Proceedings of the National Academy of Sciences	1987
Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome M Peacocke, KA Siminovitch	Proceedings of the National Academy of Sciences	1987
Carrier Detection in X-Linked Agammaglobulinemia by Analysis of X-Chromosome Inactivation ER Fearon, JA Winkelstein, CI Civin, DM Pardoll, B Vogelstein	New England Journal of Medicine	1987
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion SV Hodgson, ME Robertson, CN Fear, J Goodship, S Malcolm, B Jay, M Bobrow, ME Pembrey	Human Genetics	1987
Close linkage of random DNA fragments from Xq 21.3–22 to X-linked agammaglobulinaemia (XLA) S Malcolm, G de Saint Basile, B Arveiler, YL Lau, P Szabo, A Fischer, C Griscelli, M Debre, JL Mandel, RE Callard, ME Robertson, JA Goodship, ME Pembrey, RJ Levinsky	Human Genetics	1987
Human Genetics F Vogel, K Sperling	Human Genetics	1987
X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus EJ Mensink, A Thompson, LA Sandkuyl, ME Kraakman, JD Schot, T Espanol, RK Schuurman	Human Genetics	1987
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region FP Cremers, RA Pfeiffer, TJ van de Pol, MH Hofker, TA Kruse, B Wieringa, HH Ropers	Human Genetics	1987
Diagnosis of genetic disease using recombinant DNA. Supplement DN Cooper, J Schmidtke	Human Genetics	1987
Immunologic Disorders: The Regulation of Humoral Immunity RJ Wedgwood, HD Ochs	Vox Sanguinis	1986
Expression of the Gene Defect in X-Linked Agammaglobulinemia ME Conley, P Brown, AR Pickard, RH Buckley, DS Miller, WH Raskind, JW Singer, PJ Fialkow	New England Journal of Medicine	1986
Progress in Immunology IH Lepow	Progress in Immunology	1971

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