Thyroid disease

Duplication of medial 15q confirmed by FISH
C E BROWNE, E HATCHWELL, A PROTOPAPOS, J RAMOS

Journal of Medical Genetics Aug 2000, 37 (8) e10; DOI: 10.1136/jmg.37.8.e10
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt
Nataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, Barbara Klink, Karl Hackmann, Irmingard Neuhann, Barbora Novotna, Jens Schallner, Claudia Krause, Ian A Glass, Shawn E Parnell, Anna Benet-Pages, Anke M Nissen, Wolfgang Berger, Janine Altmüller, Holger Thiele, Bernhard H F Weber, Evelin Schrock, William B Dobyns, Andrea Bier, Andreas Rump

Journal of Medical Genetics Jun 2016, 53 (6) 419-425; DOI: 10.1136/jmedgenet-2015-103511
An X chromosome-wide association analysis identifies variants in GPR174 as a risk factor for Graves’ disease
Xun Chu, Min Shen, Fang Xie, Xiao-Jing Miao, Wei-Hua Shou, Lin Liu, Peng-Peng Yang, Ya-Nan Bai, Kai-Yue Zhang, Lin Yang, Qi Hua, Wen-Dong Liu, Yan Dong, Hai-Feng Wang, Jin-Xiu Shi, Yi Wang, Huai-Dong Song, Sai-Juan Chen, Zhu Chen, Wei Huang

Journal of Medical Genetics Jul 2013, 50 (7) 479-485; DOI: 10.1136/jmedgenet-2013-101595
Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18
C Dacou-Voutetakis, A Sertedaki, M Maniatis-Christidis, C Sarri, G Karadima, M B Petersen, A Xaidara, M Kanariou, P Nicolaidou

Journal of Medical Genetics Feb 1999, 36 (2) 156-158; DOI: 10.1136/jmg.36.2.156
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
S P Pryor, A C Madeo, J C Reynolds, N J Sarlis, K S Arnos, W E Nance, Y Yang, C K Zalewski, C C Brewer, J A Butman, A J Griffith

Journal of Medical Genetics Feb 2005, 42 (2) 159-165; DOI: 10.1136/jmg.2004.024208
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
H-J Park, S Shaukat, X-Z Liu, S H Hahn, S Naz, M Ghosh, H-N Kim, S-K Moon, S Abe, K Tukamoto, S Riazuddin, M Kabra, R Erdenetungalag, J Radnaabazar, S Khan, A Pandya, S-I Usami, W E Nance, E R Wilcox, S Riazuddin, A J Griffith

Journal of Medical Genetics Apr 2003, 40 (4) 242-248; DOI: 10.1136/jmg.40.4.242
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito
Bert H J Eussen, Gabriella Bartalini, Lida Bakker, Paolo Balestri, Carmela Di Lucca, Jan O Van Hemel, Hans Dauwerse, Ans M W van den Ouweland, Carrie Ris-Stalpers, Senno Verhoef, Dicky J J Halley, Alberto Fois

Journal of Medical Genetics Apr 2000, 37 (4) 287-291; DOI: 10.1136/jmg.37.4.287
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)
Anna Tylki-Szymańska, Rocio Acuna-Hidalgo, Małgorzata Krajewska-Walasek, Agnieszka Lecka-Ambroziak, Marloes Steehouwer, Christian Gilissen, Han G Brunner, Agnieszka Jurecka, Agnieszka Różdżyńska-Świątkowska, Alexander Hoischen, Krystyna H Chrzanowska

Journal of Medical Genetics May 2015, 52 (5) 312-316; DOI: 10.1136/jmedgenet-2014-102936
Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?
A C Madeo, A Manichaikul, S P Pryor, A J Griffith

Journal of Medical Genetics Jun 2009, 46 (6) 405-406; DOI: 10.1136/jmg.2008.063610
Heterogeneity in the processing defect of SLC26A4 mutants
J S Yoon, H-J Park, S-Y Yoo, W Namkung, M J Jo, S K Koo, H-Y Park, W-S Lee, K H Kim, M G Lee

Journal of Medical Genetics Jul 2008, 45 (7) 411-419; DOI: 10.1136/jmg.2007.054635

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Thyroid disease

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