Results 91 to 100 of about 233,721 (401)
Extended Growth Curves for the Wolf‐Hirschhorn Syndrome (4p‐)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wolf‐Hirschhorn syndrome (WHS) is a rare, highly variable contiguous gene deletion syndrome caused by deletions of the distal portion of the short arm of chromosome 4. Individuals with this disorder have prenatal onset of poor growth of all dimensions, along with neurological manifestations, developmental disability, and distinctive facial ...
Amy R. U. L. Calhoun +3 more
wiley +1 more source
Karyotype analysis of Lilium lancifolium and four related cultivars
Caryologia, 2021 Lilium lancifolium is one of the most important species of genus Lilium. Besides ornamental value, it also has highly edible and medicinal properties. We investigated the karyotypes of L. lancifolium and four related cultivars. The results indicated that
Yuchao Tang +6 more
doaj +1 more source
The early evolutionary history of neo-sex chromosomes in Neotropical grasshoppers, Boliviacris noroestensis (Orthoptera: Acrididae: Melanoplinae) [PDF]
, 2014 Neo-sex chromosomes are an important component of chromosome variation in Orthoptera, particularly South American Melanoplinae species, which have proven to be outstanding experimental model system to study the mechanism of sex chromosome evolution in ...
Castillo, Elio Rodrigo Daniel +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini +8 more
wiley +1 more source
Gayana: Botanica, 2010 The karyotype of Chaetanthera linearis var. linearis from Chile was examined. The species has 2n = 2x = 22 chromosomes, with 9m + 1st + 1 st-sat chromosomes. The reported karyotype is symmetric (AsK % = 58.0, TF % = 42.0 and Syi % = 72.4).
Carlos M Baeza +3 more
doaj
European Journal of Entomology, 2006 The karyotypes of pseudoscorpions of three families, Geogarypidae, Garypinidae and Olpiidae (Arachnida: Pseudoscorpiones), were studied for the first time.
František ŠŤÁHLAVSKÝ +3 more
doaj +1 more source
Multidirectional chromosome painting substantiates the occurrence of extensive genomic reshuffling within Accipitriformes. [PDF]
, 2015 BACKGROUND: Previous cross-species painting studies with probes from chicken (Gallus gallus) chromosomes 1-10 and a paint pool of nineteen microchromosomes have revealed that the drastic karyotypic reorganization in Accipitridae is due to extensive ...
Beiyuan Fu +10 more
core +3 more sources
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti +12 more
wiley +1 more source
The association of euploid miscarriage with obesity
F&S Reports, 2020 Objective: To determine whether the frequency of euploid miscarriage is increased in obese women with early pregnancy loss. Design: Retrospective cohort study. Setting: Academic medical center. Patient(s): A total of 2,620 women with cytogenetic analysis
Jacqueline C. Lee, M.D. +2 more
doaj
Diversity, 2018 Whole genome assemblies are crucial for understanding a wide range of aspects of falcon biology, including morphology, ecology, and physiology, and are thus essential for their care and conservation.
Sunitha Joseph +5 more
doaj +1 more source