A common nonsense mutation results in α-actinin-3 deficiency in the general population
North, Kathryn N, Yang, Nan, Wattanasirichaigoon, Duangrurdee, Mills, Michelle, Easteal, Simon, Beggs, Alan H
Published in Nature genetics (01.04.1999)
Published in Nature genetics (01.04.1999)
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Journal Article
Prenatal diagnosis of campomelic dysplasia with three‐dimensional ultrasound
Promsonthi, P., Wattanasirichaigoon, D.
Published in Ultrasound in obstetrics & gynecology (01.05.2006)
Published in Ultrasound in obstetrics & gynecology (01.05.2006)
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Journal Article
High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals
Wattanasirichaigoon, D, Limwongse, C, Jariengprasert, C, Yenchitsomanus, PT, Tocharoenthanaphol, C, Thongnoppakhun, W, Thawil, C, Charoenpipop, D, Pho-iam, T, Thongpradit, S, Duggal, P
Published in Clinical genetics (01.11.2004)
Published in Clinical genetics (01.11.2004)
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Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome
Keeratichamroen, S., Ketudat Cairns, J. R., Wattanasirichaigoon, D., Wasant, P., Ngiwsara, L., Suwannarat, P., Pangkanon, S., Kuptanon, J., Tanpaiboon, P., Rujirawat, T., Liammongkolkul, S., Svasti, J.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Journal Article
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy
Wattanasirichaigoon, D, Swoboda, K J, Takada, F, Tong, H-Q, Lip, V, Iannaccone, S T, Wallgren-Pettersson, C, Laing, N G, Beggs, A H
Published in Neurology (27.08.2002)
Published in Neurology (27.08.2002)
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Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's hydrops fetalis
Wattanasirichaigoon, D, Promsonthi, P, Chuansumrit, A, Leopairut, J, Yanatatsaneejit, P, Rattanatanyong, P, Munkongdee, T, Fucharoen, S, Mutirangura, A
Published in Clinical genetics (01.09.2008)
Published in Clinical genetics (01.09.2008)
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Journal Article
Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients
Suwannarat, P., Keeratichamroen, S., Wattanasirichaigoon, D., Ngiwsara, L., Cairns, J.R.K., Svasti, J., Visudtibhan, A., Pangkanon, S.
Published in Blood cells, molecules, & diseases (01.11.2007)
Published in Blood cells, molecules, & diseases (01.11.2007)
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Journal Article
Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus
Wattanasirichaigoon, Duangrurdee, Visudtibhan, Anannit, Jaovisidha, Suphaneewan, Laothamatas, Jiraporn, Chunharas, Amornsri
Published in Clinical dysmorphology (01.07.2004)
Published in Clinical dysmorphology (01.07.2004)
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Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. Online
Suwanjutha, S, Huang, N N, Wattanasirichaigoon, D, Sura, T, Harris, A, Macek, Jr, M
Published in Human mutation (1998)
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Published in Human mutation (1998)
Journal Article
Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias
SCHWARTZ, Peter J, PRIORI, Silvia G, TOWBIN, Jeffrey A, BEGGS, Alan H, BRINK, Paul, WILDE, Arthur A. M, TOIVONEN, Lauri, ZAREBA, Wojciech, ROBINSON, Jennifer L, TIMOTHY, Katherine W, CORFIELD, Valerie, DUANGRURDEE WATTANASIRICHAIGOON, SPAZZOLINI, Carla, CORBETT, Clive, HAVERKAMP, Wilhelm, SCHULZE-BAHR, Eric, LEHMANN, Michael H, SCHWARTZ, Ketty, COUMEL, Philippe, BLOISE, Raffaella, MOSS, Arthur J, VINCENT, G. Michael, NAPOLITANO, Carlo, DENJOY, Isabelle, GUICHENEY, Pascale, BREITHARDT, Günter, KEATING, Mark T
Published in Circulation (New York, N.Y.) (02.01.2001)
Published in Circulation (New York, N.Y.) (02.01.2001)
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Journal Article
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
Wilce, Matthew, Hübner, Christoph, Nowak, Kristen J, Laing, Nigel G, Wattanasirichaigoon, Duangrurdee, Pelin, Katarina, Oexle, Konrad, Müller, Clemens R, Nürnberg, Peter, Iannaccone, Susan T, Beggs, Alan H, Wallgren-Pettersson, Carina, Donner, Kati, Sutphen, Rebecca, Sewry, Caroline, Jacob, Rebecca L, Anderson, Janice R, Verity, Christopher M, Lacson, Atilano G, Swoboda, Kathryn J, Goebel, Hans H, North, Kathryn N, Muntoni, Francesco, Hughes, Imelda, Vigneron, Jaqueline
Published in Nature genetics (01.10.1999)
Published in Nature genetics (01.10.1999)
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Journal Article
Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy
Pelin, Katarina, Hilpela, Pirta, Donner, Kati, Sewry, Caroline, Akkari, Patrick A., Wilton, Stephen D., Wattanasirichaigoon, Duangrurdee, Bang, Marie-Louise, Centner, Thomas, Hanefeld, Folker, Odent, Sylvie, Fardeau, Michel, Urtizberea, J. Andoni, Muntoni, Francesco, Dubowitz, Victor, Beggs, Alan H., Laing, Nigel G., Labeit, Siegfried, de la Chapelle, Albert, Wallgren-Pettersson, Carina
Published in Proceedings of the National Academy of Sciences - PNAS (02.03.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (02.03.1999)
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Journal Article
Novel Mutation of BTK Gene in an XLA Patient with Late Manifestation of Chronic Arthritis, Encephalopathy and Pseudomonas Sepsis
Manuyakorn, W., Kamchaisatian, W., Benjaponpitak, S., Wattanasirichaigoon, D., Direkwattanachai, C.
Published in Journal of allergy and clinical immunology (01.02.2006)
Published in Journal of allergy and clinical immunology (01.02.2006)
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Journal Article
Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 cases
Wattanasirichaigoon, Duangrurdee, Prasad, Chitra, Schneider, Gretchen, Evans, Jane A., Korf, Bruce R.
Published in American journal of medical genetics. Part A (15.09.2003)
Published in American journal of medical genetics. Part A (15.09.2003)
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Journal Article
Strokes in Thai children : Etiology and outcome
VISUDHIPHAN, P, CHIEMCHANYA, S, WATTANASIRICHAIGOON, D
Published in Southeast Asian journal of tropical medicine and public health (01.12.1996)
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Published in Southeast Asian journal of tropical medicine and public health (01.12.1996)
Journal Article
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations
Wattanasirichaigoon, D, Vesely, M R, Duggal, P, Levine, J C, Blume, E D, Wolff, G S, Edwards, S B, Beggs, A H
Published in American journal of medical genetics (29.10.1999)
Published in American journal of medical genetics (29.10.1999)
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