Results 131 to 140 of about 24,363 (274)
AN ASSESSMENT OF KNOWLEDGE AND ATTITUDES OF GENETIC COUNSELING SERVICES IN U.S. HTCs [PDF]
, 2013 Hemophilia is a hereditary bleeding disorder which requires lifelong specialized care. A network of Hemophilia Treatment Centers (HTCs) exists to meet the medical needs of patients affected by hemophilia.
Brown, Deborah +6 more
core
Clinical Case Reports, Volume 14, Issue 1, January 2026.Ultrasonographic characteristics of fetal junctional epidermolysis bullosa associated with ITGB4 gene mutation. ABSTRACT Homozygous or compound heterozygous mutations in the ITGB4 gene are associated with the pathogenesis of junctional epidermolysis bullosa, characterized by increased fragility of the skin and mucous membranes.
Qi Xu +7 more
wiley +1 more source
Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study [PDF]
, 2014 Luca Gianaroli +6 more
openalex +1 more source
Journal of Biophotonics, Volume 19, Issue 1, January 2026.Six hundred and sixty nanometer light‐induced alteration of actin filament cytoskeleton, mitochondrial morphological dynamics, and enhanced migration in adipose‐derived mesenchymal stem cells. ABSTRACT Actin cytoskeleton alteration and cell homing/migration are crucial determinants for the success of stem cell (SC) based therapy.
Mahima Rastogi +2 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.In this paper, we describe a common recurrent founder variant in the BRCA gene that was observed in the native Qatari population among high‐risk individuals seen in the cancer genetic clinic at the National Center for Cancer Care and Research. BRCA gene is associated with Hereditary breast and ovarian cancer syndrome (HBOC); it is very common in Qatar ...
Salha Bujassoum Al‐Bader +9 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.The study identified a novel SEMA3A exons 6–9 deletion variant in Kallmann syndrome that impairs GnRH neuronal migration and alters cell migration, gonad development, and synaptic pathways. The study expands mutation spectrum and offers mechanistic insights for clinical diagnosis of Kallmann syndrome.
Shaolian Zang +4 more
wiley +1 more source
Medical-ethical recommendations: preimplantation genetic testing PGT
Swiss Medical Weekly, 2020 Swiss Medical Weekly
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Zhihui Wang +6 more
wiley +1 more source
Prenatal Diagnosis, Volume 46, Issue 1, Page 46-55, January 2026.ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang +21 more
wiley +1 more source