Results 301 to 310 of about 554,004 (364)
Some of the next articles are maybe not open access.
Proof of genetic heterogeneity in X-linked Charcot–Marie–Tooth disease
Neurology, 2006To characterize a large family with X-linked Charcot-Marie-Tooth (CMT) neuropathy without mutations in the gap junction protein B1 (GJB1) gene, which has an unusual phenotype that is different in some aspects from classic CMTX1.We tested CMT families consistent with X-linked inheritance for GJB1 mutations.
I G, Huttner +4 more
openaire +2 more sources
X‐linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease
BioEssays, 1996AbstractX‐linked agammaglobulinemia is a heritable immunodeficiency disease caused by a differentiation abnormality, resulting in the virtual absence of B Iymphocytes and plasma cells. The affected gene encodes a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine kinase, designated Btk.
P T, Mattsson, M, Vihinen, C I, Smith
openaire +2 more sources
Retinitis pigmentosa: genetic mapping in X‐linked and autosomal forms of the disease
Clinical Genetics, 1990Retinitis pigmentosa (RP) is an hereditary degenerative disease of the retina and a major cause of visual impairment, prevalence estimates ranging from 1 in 3000 to 1 in 7000. The condition may segregate as an autosomal dominant, autosomal recessive or an X‐linked recessive trait and it may also occur on a sporadic basis in up to 50% of cases.
P, Humphries +3 more
openaire +2 more sources
Preimplantation genetic diagnosis for HLA typing in a case of X‐linked chronic granulomatous disease
Acta Obstetricia et Gynecologica Scandinavica, 2012AbstractBone marrow transplantation may be life saving in cases of hematopoietic disease, severe congenital immunodeficiency or malignancy. An HLA‐matching sibling often gives the best success, but this may not be an option, nor may an HLA‐matching unrelated donor be found.
Degn, Birte +4 more
openaire +2 more sources
Genetic correction of X-linked chronic granulomatous disease with novel foamy virus vectors
Experimental Hematology, 2011The X-linked form of chronic granulomatous disease (X-CGD) results from mutations in the CYBB gene encoding gp91(phox), the larger subunit of the oxidase flavocytochrome b(558). Affected individuals suffer from recurrent life-threatening infections due to impaired superoxide production by reduced nicotinamide adenine dinucleotide phosphate (NADPH ...
Ilenia, Chatziandreou +2 more
openaire +2 more sources
European Journal of Pediatrics, 1994
Three families with X-linked lymphoproliferative disease were studied. Affected males clinically presented with severe or fatal infectious mononucleosis, acquired hypogammaglobulinaemia, hypergammaglobulinaemia M, and malignant lymphoma including Hodgkin disease.
V, Schuster +6 more
openaire +2 more sources
Three families with X-linked lymphoproliferative disease were studied. Affected males clinically presented with severe or fatal infectious mononucleosis, acquired hypogammaglobulinaemia, hypergammaglobulinaemia M, and malignant lymphoma including Hodgkin disease.
V, Schuster +6 more
openaire +2 more sources
Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease
Immunological Investigations, 2014Chronic granulomatous disease (CGD) is a rare hereditary disorder that is characterized by a greatly increased susceptibility to life-threatening bacterial and fungal infections. CGD is caused by mutations in any one of the genes encoding subunits of phagocyte NADPH oxidase.
Sun Hi, Ko +5 more
openaire +2 more sources
Medicina Clínica (English Edition), 2018
To present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease.We performed PGD of X-linked Charcot-Marie-Tooth type 1 disease using haplotyping/indirect linkage ...
Irena, Borgulová +3 more
openaire +2 more sources
To present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease.We performed PGD of X-linked Charcot-Marie-Tooth type 1 disease using haplotyping/indirect linkage ...
Irena, Borgulová +3 more
openaire +2 more sources
Current Opinion in Genetics & Development, 2006
Paroxysmal nocturnal hemoglobinuria (PNH) is a severe hemolytic anemia caused by an intrinsic abnormality of the red blood cells that makes them exceedingly susceptible to the lytic action of activated complement (C). This abnormality results from a mutation in the PIG-A gene on Xp22. Given that the mutation is not inherited but is somatically acquired
openaire +2 more sources
Paroxysmal nocturnal hemoglobinuria (PNH) is a severe hemolytic anemia caused by an intrinsic abnormality of the red blood cells that makes them exceedingly susceptible to the lytic action of activated complement (C). This abnormality results from a mutation in the PIG-A gene on Xp22. Given that the mutation is not inherited but is somatically acquired
openaire +2 more sources
Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).
Blood Cells, Molecules & Diseases, 2021D. Roos +35 more
semanticscholar +1 more source