Results 91 to 100 of about 108,883 (296)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source
Karyotype and Sperm Morphology
This project stores data related to the paper "Karyotype depends on sperm head morphology in some amniote groups", to be published in Trends in ...
Eric Kramer
core +7 more sources
Karyological and Palynological Investigations of Cyanus depressus Species
Düzce Üniversitesi Bilim ve Teknoloji Dergisi, 2017 The Cyanus depressus (M. Bieb.) Soják species belonging to the genus Cyanus (Asteraceae) was examined from the karyological and palynological. The number of basic chromosomes collected from natural habitats in Elazığ in 2011 was 2n = 16.
Neslihan Taşar +2 more
doaj
Karyotype variability of the genus Colocasia (Araceae) of Assam, North East India
CaryologiaCytological study in four species of Colocasia (Araceae) of Assam showed a variation of chromosome numbers. Basic chromosome number of the species was reported as n= 14.
Sourav Bhattacharjee +4 more
doaj +1 more source
Brazilian Archives of Biology and Technology, 2008 In this study, five species of marine fishes from the Paranaguá Bay in the Brazilian coast were evaluated. Eucinostomus argenteus and Diapterus rhombeus (Gerreidae) presented 48 chromosomes, all of which more acrocentric (FN = 48); Strongylura timucu and
Roger Raupp Cipriano +6 more
doaj +1 more source
Dynamics of Karyotype Evolution
In the evolution of species, the karyotype changes with a timescale of tens to hundreds of thousand years. In the development of cancer, the karyotype often is modified in cancerous cells over the lifetime of an individual.
Baker, Toby M +3 more
core +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
The Karyotype of the Arabian camel, camelus dromedarius
, 1993 The diploid chromosome number of Camelus dromedarius was found to be 74 and the auto-somes have been classified into three groups. The first group consists of 31 pairs of acrocentric autosomes designated as number 1 to 31.
Sheth, Kert +2 more
core
Role of SoxE transcription factors in development and disease
Developmental Dynamics, EarlyView.Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley +1 more source
Genetic testing among patients evaluated for epilepsy surgery
Epileptic Disorders, EarlyView.Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela +7 more
wiley +1 more source