Results 211 to 220 of about 151,372 (221)

A missense mutation associated with schizophrenia

Trends in Genetics, 2001
Schizophrenia is a complex heterogeneous syndrome, involving both environmental and genetic factors. Although a familial subtype of catatonic schizophrenia is transmitted in an autosomal dominant manner, the gene responsible has eluded scientists. Recently, however, a German group led by K.P.
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SOD1 missense mutation in an Italian family with ALS

Neurology, 1994
We have discovered a new Italian pedigree with autosomal-dominant ALS. The pedigree, at present, comprises 75 members distributed in five generations. ALS was diagnosed in eight patients. The mean +/- SD age of onset of the disease was 46.8 +/- 13.5 years, with a range of 29 to 63 years.
I. Rainero, L. Pinessi, T. Tsuda, M. G. Vignocchi, G. Vaula, L. Calvi, P. Cerrato, B. Rossi, L. Bergamini, D. R. Crapper McLachlan, P. H. St. George-Hyslop   +10 more
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Two Novel Missense Mutations in Nonketotic Hyperglycinemia

Journal of Child Neurology, 2014
Nonketotic hyperglycinemia (OMIM no. 605899) is an autosomal recessively inherited glycine encephalopathy, caused by a deficiency in the mitochondrial glycine cleavage system. Here we report 2 neonates who were admitted to the hospital with complaints of respiratory failure and myoclonic seizures with an elevated cerebrospinal fluid/plasma glycine ...
Yilmaz B.S., Kor D., Ceylaner S., Mert G.G., Incecik F., Kartal E., Mungan N.O.   +6 more
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Missense mutations in hMLH1 associated with colorectal cancer

Human Genetics, 1999
One of the most prevalent hereditary syndromes associated with colorectal cancer is hereditary nonpolyposis colorectal cancer (HNPCC). The inherited gene defects in HNPCC have been shown to reside in DNA mismatch repair genes, mostly hMSH2 or hMLH1. Most HNPCC patients are heterozygous with regard to the relevant mismatch repair gene; they have one ...
Pia Tannergård, Bo Lambert, Carlos A. Rubio, U. Kressner, Tao Liu, Gudrun Lindmark, Dennis Hellgren, Peter Hackman, Annika Lindblom   +8 more
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Missense mutation in the choroideremia gene

Human Molecular Genetics, 1994
H. Menet, J. P. Moisan, M. G. Le Roux, C. Fouanon, P. Donnelly, O. Herbert, Olivier Pascal   +6 more
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Two missense mutations in

Animal Genetics, 2014
D. I. V�ge, M. Nieminen, D. G. Anderson, K. H. R�ed   +3 more
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Statistical Analysis of Missense Mutation Classifiers

Human Mutation, 2012
Sharon E. Plon, Stephanie C. Hicks, Marek Kimmel   +2 more
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Mutation, Missense

2001
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Informational suppression of missense mutations

Cell, 1975
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PAX6 missense mutation in isolated foveal hypoplasia

Nature Genetics, 1996
Masao Yamada, Hiroko Yanagisawa, Sachiko Nishina, Noriyuki Azuma, Torayuki Okuyama   +4 more
openaire   +3 more sources