JMG Online mutation reports

Showing results 41 - 50 of 100

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TitleAuthorDate

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

R E Amir, P Fang, Z Yu, D G Glaze, A K Percy, H Y Zoghbi, B B Roa, I B Van den Veyver

2 February 2005

Mutational spectrum of NSDHL in CHILD syndrome

D Bornholdt, A König, R Happle, L Leveleki, M Bittar, R Danarti, A Vahlquist, W Tilgen, U Reinhold, A Poiares Baptista, É Grosshans, P Vabres, S Niiyama, K Sasaoka, T TanakaSee the full list of authors

2 February 2005

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

L Pasquier, C Dubourg, M Gonzales, L Lazaro, V David, S Odent, F Encha-Razavi

5 January 2005

Genetics of the FANCA gene in familial pancreatic cancer

C D Rogers, F J Couch, K Brune, S T Martin, J Philips, K M Murphy, G Petersen, C J Yeo, R H Hruban, M Goggins

9 December 2004

Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension

R Koehler, E Grünig, M W Pauciulo, M M Hoeper, H Olschewski, H Wilkens, M Halank, J Winkler, R Ewert, H Bremer, S Kreuscher, B Janssen, W C Nichols

9 December 2004

No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia

A Karabegovic, M Shinawi, U Cymerman, M Letarte

1 November 2004

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

W Borozdin, D Boehm, M Leipoldt, C Wilhelm, W Reardon, J Clayton-Smith, K Becker, H Mühlendyck, R Winter, Ö Giray, F Silan, J Kohlhase

1 September 2004

Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer

S-M Karppinen, K Heikkinen, K Rapakko, R Winqvist

1 September 2004

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease

S D Whatley, N G Mason, M Khan, M Zamiri, M N Badminton, W N Missaoui, T A Dailey, H A Dailey, W S Douglas, N J Wainwright, G H Elder

30 July 2004

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

K P Burdon, M G Wirth, D A Mackey, I M Russell-Eggitt, J E Craig, J E Elder, J L Dickinson, M M Sale

30 July 2004

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