Results 361 to 370 of about 1,506,824 (383)

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
openaire   +4 more sources

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
openaire   +4 more sources

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
openaire   +3 more sources

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
openaire   +2 more sources

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Nature, 1991
A. Goate, M. Chartier-Harlin, M. Mullan, Jeremy S. Brown, F. Crawford, L. Fidani, L. Giuffra, A. Haynes, N. Irving, L. James, R. Mant, P. Newton, K. Rooke, P. Roques, C. Talbot, M. Pericak-Vance, A. Roses, R. Williamson, M. Rossor, M. Owen, J. Hardy   +20 more
semanticscholar   +1 more source

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
openaire   +3 more sources

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin–Siris phenotype, and schwannomatosis

American Journal of Medical Genetics. Part A, 2015
N. Gossai, J. Biegel, L. Messiaen, S. Berry, C. Moertel   +4 more
semanticscholar   +1 more source

Two missense mutations in

Animal Genetics, 2014
D. I. V�ge, M. Nieminen, D. G. Anderson, K. H. R�ed   +3 more
openaire   +1 more source

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Nature, 1991
H. Dietz, Carry R. Cutting, R. Pyeritz, C. Maslen, L. Sakai, G. Corson, E. Puffenberger, A. Hamosh, E. Nanthakumar, S. Curristin, G. Stetten, D. Meyers, C. Francomano   +12 more
semanticscholar   +1 more source

Statistical Analysis of Missense Mutation Classifiers

Human Mutation, 2012
Sharon E. Plon, Stephanie C. Hicks, Marek Kimmel   +2 more
openaire   +3 more sources