Results 321 to 330 of about 241,061 (333)

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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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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Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability

Psychiatric Genetics, 2016
Non-syndromic autosomal recessive intellectual disability (ID) is a genetically heterogeneous disorder with more than 50 mutated genes to date. ID is characterized by deficits in memory skills and language development with difficulty in learning, problem solving, and adaptive behaviors, and affects ∼ 1% of the population.
Peter John, John B. Vincent, Kirti Mittal, Attya Bhatti, Muhammad Rafiq, Mehrnaz Ohadi, Melissa T. Carter, Muhammad Ayub, Nasim Vasli, Iltaf Ahmed, Anna Mikhailov, Danielle M. Andrade   +11 more
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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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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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A missense mutation in ANKRD26 segregates with thrombocytopenia

Blood, 2013
To the editor: Inherited thrombocytopenias form a heterogenous group of diseases characterized by decreased platelet count and increased risk of bleeding. Mutations in at least 17 genes have been associated with autosomal-recessive, autosomal-dominant, and X-linked forms of the disease ...
Lyam Vasquez, Hakon Hakonarson, Hakon Hakonarson, Lifeng Tian, Patrick M. A. Sleiman, Patrick M. A. Sleiman, Yousef Housawi, Cecilia Kim, Saad Al Daama, Mohammed Sager, Cuiping Hou, F. George Otieno, Walid Dridi   +12 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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