Thyroid disease

Citations 1-10 of 14 total displayed.

Letters to JMG
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
J. Med. Genet. 2009 46: 405 -406; published online before print as 10.1136/jmg.2008.063610 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
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
J. Med. Genet. 2008 45: 411 -419; published online before print as 10.1136/jmg.2007.054635 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Letters to JMG
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
J. Med. Genet. 2005; 42: 159-165. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2

T Tsilchorozidou, F H Menko, F Lalloo, A Kidd, R De Silva, H Thomas, P Smith, A Malcolmson, J Dore, K Madan, A Brown, J G Yovos, M Tsaligopoulos, N Vogiatzis, ME Baser, A J Wallace, D G R Evans
J. Med. Genet. 2004; 41: 529-534. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Microcephaly-cardiomyopathy syndrome: expansion of the phenotype

K Becker, R Yates
J. Med. Genet. 2003; 40: e78. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
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
J. Med. Genet. 2003; 40: 242-248. [Abstract] [Full text] [PDF] [Request Permissions] [ Web-only Tables ]  

Letters to JMG
Longevity in Schimke immuno-osseous dysplasia

S Lou, P Lamfers, N McGuire, C F Boerkoel
J. Med. Genet. 2002; 39: 922-925. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene

Myrna Mustapha, Nabiha Salem, Valérie Delague, Eliane Chouery, Michella Ghassibeh, Myriam Rai, Jacques Loiselet, Christine Petit, André Mégarbané
J. Med. Genet. 2001; 38: e36. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Duplication of medial 15q confirmed by FISH

C E BROWNE, E HATCHWELL, A PROTOPAPOS, J RAMOS
J. Med. Genet. 2000; 37: e10. [Extract] [Full text] [PDF] [Request Permissions] [ CORRECTION ]  

Electronic letters
Alström syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs

URS ZUMSTEG, PATRICK Y MULLER, ANDRÉ R MISEREZ
J. Med. Genet. 2000; 37: e8. [Extract] [Full text] [PDF] [Request Permissions]