Results 131 to 140 of about 750,648 (173)

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report. [PDF]

SAGE Open Med Case Rep
Gee C, Nguyen MD, Le D, Hanna R.
europepmc   +1 more source

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment. [PDF]

Case Rep Genet
Raaz C, Bruce L, Ganapathiraju M, Klein-Seetharaman J, Liu L, Dinu V, Chapi M, Kim E, Kim Y, White T, Peter B.   +10 more
europepmc   +1 more source

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +1 more source

Non-canonical sex chromosome evolution revealed by extreme heterogeneity in homomorphic Y chromosome differentiation in the common frog

Carpentier F, Veltsos P, Unal E, Doucette K, Fontseré R, Brelsford A, Toups M, Perrin N, Ma W.   +8 more
europepmc   +1 more source

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Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes

Science, 1993
Mice that bear the X-linked immunodeficiency ( xid ) mutation have a B lymphocyte-specific defect resulting in an inability to make antibody responses to polysaccharide antigens. A backcross of 1114 progeny revealed the colocalization of xid with Bruton's agammaglobulinemia tyrosine kinase (
J D, Thomas, P, Sideras, C I, Smith, I, Vorechovský, V, Chapman, W E, Paul   +5 more
openaire   +2 more sources

Gene diagnosis in X-linked ichthyosis

Archives of Dermatological Research, 1989
Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene. In patients from two of the families, submicroscopic chromosomal deletions could be detected using both the STS and the GMGX9 (DXS237 locus) probes.
F H, Herrmann, B, Wirth, K, Wulff, J, Hadlich, M, Voss, E F, Gillard, T A, Kruse, M A, Ferguson-Smith, A, Gal   +8 more
openaire   +2 more sources

X-Linked Adrenoleukodystrophy: Genes, Mutations, and Phenotypes

Neurochemical Research, 1999
X-linked adrenoleukodystrophy (X-ALD) is a complex and perplexing neurodegenerative disorder. The metabolic abnormality, elevated levels of very long-chain fatty acids in tissues and plasma, and the biochemical defect, reduced peroxisomal very long-chain acyl-CoA synthetase (VLCS) activity, are ubiquitous features of the disease.
Smith, K. D., Kemp, S., Braiterman, L. T., Lu, J. F., Wei, H. M., Geraghty, M., Stetten, G., Bergin, J. S., Pevsner, J., Watkins, P. A.   +9 more
openaire   +3 more sources

Mutational Analysis of X-Linked Adrenoleukodystrophy Gene

Cell Biochemistry and Biophysics, 2000
X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal disorder characterized by progressive neurological dysfunction, occasionally associated with adrenal insufficiency. The clinical phenotypes of ALD are quite variable, and include childhood ALD, adult-onset ALD, adrenomyeloneuropathy, and Addison's disease only.
H, Takano, R, Koike, O, Onodera, S, Tsuji   +3 more
openaire   +2 more sources

Gene Therapy of X-Linked Severe Combined Immunodeficiency

Current Opinion in Allergy and Clinical Immunology, 2002
This review addresses several questions in the light of the results recently obtained by a gene therapy trial for the treatment of X-linked severe combined immunodeficiency. This primary immunodeficiency, characterized by a complete absence of T and natural killer lymphocytes, appeared as a good model for the application of gene therapy, combining an ...
Salima, Hacein-Bey-Abina, Alain, Fischer, Marina, Cavazzana-Calvo   +2 more
openaire   +4 more sources