Results 301 to 310 of about 944,231 (329)

Do X-linked diseases affect periodontal health?

Periodontology, 2013
H. Chien, T. Hart
semanticscholar   +1 more source

[Clinical and genetic analysis of a Chinese family affected with X-linked Charcot-Marie-Tooth disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2014
To study the clinical manifestations and identify causative mutations for a Chinese family affected with X-linked Charcot-Marie-Tooth disease.Clinical, electrophysiological and pathological features of the family were carefully analyzed by neurologists. Blood samples were obtained from the proband and other family members.
Yapei, Feng, Lin, Li, Xiao, Li, Guilong, Wang, Jiangxia, Li, Qiji, Liu   +5 more
openaire   +1 more source

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Acta Neuropathologica, 2013
H. Adle-Biassette, P. Saugier-Veber, C. Fallet-Bianco, A. Delezoide, F. Razavi, N. Drouot, A. Bazin, A. Beaufrère, B. Bessières, S. Blesson, M. Bucourt, D. Carles, L. Devisme, F. Dijoud, B. Fabre, C. Fernandez, D. Gaillard, M. Gonzalès, F. Jossic, M. Joubert, N. Laurent, B. Leroy, L. Loeuillet, P. Loget, P. Marcorelles, J. Martinovic, M. Perez, D. Satgé, M. Sinico, M. Tosi, J. Benichou, P. Gressens, T. Frebourg, A. Laquérriere   +33 more
semanticscholar   +1 more source

[Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2012
X-linked lymphoproliferative disease (XLP), a genetic disorder characterized by immunodeficiency to Epstein-Barr virus (EBV) infection, has been linked to mutations in the SH2D1A gene. XLP patient displays EBV associated fulminant infectious mononucleosis or hemophagocytic lymphohistocytosis, hypogammaglobulinemia or malignant lymphoma.
Xi, Yang, Jing, Wang, Yun-fei, An, Hirokazu, Kanegane, Toshio, Miyawaki, Xiao-dong, Zhao   +5 more
openaire   +1 more source

X-linked dominant inherited diseases with lethality in hemizygous males

Human Genetics, 2004
Roswitha Wettke-Schäfer, G. Kantner
semanticscholar   +1 more source

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28

Human Genetics, 2004
N. Gigarel, N. Frydman, P. Burlet, V. Kerbrat, J. Steffann, R. Frydman, A. Munnich, P. Ray   +7 more
semanticscholar   +1 more source

X-linked lymphoproliferative syndromes and related autosomal recessive disorders

Current Opinion in Allergy and Clinical Immunology, 2013
A. Veillette, Luis-Alberto Pérez-Quintero, S. Latour   +2 more
semanticscholar   +1 more source

Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

American Journal of Kidney Diseases, 2007
B. Tazón-Vega, E. Ars, M. Burset, S. Santín, P. Ruíz, P. Fernández-Llama, J. Ballarín, R. Torra   +7 more
semanticscholar   +1 more source

MZ female twins discordant for X-linked diseases: a review.

Acta geneticae medicae et gemellologiae, 1994
G. Tiberio
semanticscholar   +1 more source

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

Journal of Medical Genetics, 2012
Eva d’Hennezel, Khalid Bin Dhuban, T. Torgerson, C. Piccirillo   +3 more
semanticscholar   +1 more source