Testing of thirty autosomal single nucleotide polymorphisms were performed in 218 independent Hungarian male and female samples. We applied this system to 24 paternity testing cases including 14 inclusions and 10 exclusions.
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http://dx.doi.org/10.1016/j.legalmed.2006.11.003 | DOI Listing |
Front Endocrinol (Lausanne)
January 2025
Department of Endocrinology, Sydney Children's Hospital, Randwick, NSW, Australia.
Introduction: Pre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families' lived experiences with CAH and the couples' subsequent fertility journey.
View Article and Find Full Text PDFSci Rep
December 2024
Hy-Line International, 2583 240th St, PO Box 310, Dallas Center, 50063, IA, USA.
Marek's Disease (MD), which can result in neurological damage and tumour formation, has large effects on the economy and animal welfare of the poultry industry worldwide. Previously, we mapped autosomal MD QTL regions (QTLRs) by individual genotyping of an F population from a full-sib advanced intercross line. We further mapped MD QTLRs on the chicken Z chromosome (GGZ) using the same F population, and by selective DNA pooling (SDP) of 8 elite egg production lines.
View Article and Find Full Text PDFBackground: Glanzmann thrombasthenia (GT) is a rare disease with an autosomal recessive inheritance pattern. This disorder is not so uncommonly encountered in routine clinical practice and laboratory settings in Pakistan let alone in the rest of the world. To describe the bleeding phenotype of GT and treatment outcomes in over one hundred patients in north Pakistan.
View Article and Find Full Text PDFOphthalmic Genet
December 2024
Department of Ophthalmology, Hôpital Intercommunal de Créteil, Créteil, France.
Background: Neurofibromatosis type 1 is an autosomal dominant disorder predisposing to numerous tumors. Sporadic mutations account for half of the cases. They can occur on a mosaic pattern, which might remain undiagnosed, depending on the clinical phenotype.
View Article and Find Full Text PDFOtolaryngol Head Neck Surg
December 2024
Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Objective: To review the literature on genetics of nonsyndromic microtia and congenital aural atresia (CAA).
Data Sources: Embase, Ovid (Medline), and Web of Science.
Review Methods: The search was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines for scoping reviews.
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