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Toplam kayıt 165, listelenen: 141-150
Neocentric Small Supernumerary Marker Chromosomes (Ssmc) - Three More Cases And Review Of The Literature
(Karger, 2007)
Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC( 13) and sSMC( 15) had inverted duplicated shapes and the sSMC( ...
Clinical And Hematological Evaluation Of Beta-Thalassemia Intermedia With Increased Hb-F And Hb-A2 In Heterozygotes-Beta-Thalassaemia Intermedia-I
(British Med Journal Publ Group, 1985)
Identification Of Multiple Genetic Susceptibility Loci In Takayasu Arteritis
(Cell Press, 2013)
Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association ...
Poly(A)-Specific Ribonuclease (Parn) Mediates 3 '-End Maturation of the Telomerase Rna Component
(Nature Publishing Group, 2015)
Mutations in the PARN gene (encoding poly(A)-specific ribonuclease) cause telomere diseases including familial idiopathic pulmonary fibrosis (IPF) and dyskeratosis congenita(1,2), but how PARN deficiency impairs telomere ...
A Comprehensive Molecular Study on Coffin-Siris And Nicolaides-Baraitser Syndromes Identifies A Broad Molecular and Clinical Spectrum Converging on Altered Chromatin Remodeling
(Oxford Univ Press, 2013)
Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the ...
The Effect of Serum and Follicular Fluid Amyloid-Associated Protein Levels on in Vitro Fertilization Outcome in Patients with Polycystic Ovary Syndrome
(Springer/Plenum Publishers, 2015)
In this study, we aimed to investigate serum and follicular fluid amyloid A protein levels in non-obese non-hyperandrogenic patients with polycystic ovary syndrome (PCOS) undergoing in vitro fertilization (IVF) and IVF ...
Clinical And Hematological Evaluation Of Beta-Thalassemia Intermedia Characterized By Unusually Low Hb-F And Increased Hb-A2-Beta-Thalassemia Intermedia-Ii
(British Med Journal Publ Group, 1985)
Pretransplant Mobilization With Granulocyte Colony-Stimulating Factor Improves B-Cell Reconstitution by Lentiviral Vector Gene Therapy In Scid-X1 Mice
(Mary Ann Liebert, Inc, 2014)
Hematopoietic stem cell (HSC) gene therapy is a demonstrated effective treatment for X-linked severe combined immunodeficiency (SCID-X1), but B-cell reconstitution and function has been deficient in many of the gene therapy ...
Predominance of Null Mutations in Ataxia-Telangiectasia
(Oxford Univ Press, 1996)
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition. The responsible gene, AIM, was recently ...
An Appeal To The Global Health Community For A Tripartite Innovation: An "Essential Diagnostics List," "Health In All Policies," And "See-Through 21(St) Century Science And Ethics"
(Mary Ann Liebert, Inc, 2015)
Diagnostics spanning a wide range of new biotechnologies, including proteomics, metabolomics, and nanotechnology, are emerging as companion tests to innovative medicines. In this Opinion, we present the rationale for ...