Results 131 to 140 of about 93,691 (297)

Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques. [PDF]

Mol Cytogenet, 2022
He P, Wei X, Xu Y, Huang J, Tang N, Yan T, Yang C, Lu K.   +7 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Gonadal development in scorpion mud‐turtles, Kinosternon scorpioides, in a controlled environment

The Anatomical Record, EarlyView.
Stage 20 was identified as the critical point for gonadal differentiation in Kinosternon scorpioides, providing key insights into sex determination. These findings enhance conservation strategies by supporting reproductive management and population viability in both in situ and ex situ programs. Abstract Research on gonadal development including sexual
Brenda Braga, Verônica Oliveira‐Bahia, Maria Auxiliadora Ferreira, José Ribamar Felipe Marques, Diva Araújo Guimarães   +4 more
wiley   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier. [PDF]

Hum Genet, 2021
Eisfeldt J, Pettersson M, Petri A, Nilsson D, Feuk L, Lindstrand A.   +5 more
europepmc   +1 more source

A Computational Method for the Rate Estimation of Evolutionary Transpositions

, 2015
Genome rearrangements are evolutionary events that shuffle genomic architectures. Most frequent genome rearrangements are reversals, translocations, fusions, and fissions.
J. Ma, J. Ranz, J.H. Nadeau, L. Bulteau, M. Alekseyev, M. Bader, M.A. Alekseyev, P.A. Pevzner, S. Yancopoulos   +8 more
core   +1 more source

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

Evaluation of gene editing in CHO cells using the Cas‐CLOVER system

Biotechnology Progress, EarlyView.
Abstract Recent advances in gene editing technologies have transformed the genetic engineering of Chinese hamster ovary (CHO) hosts, enabling the development of cell lines with improved stability and productivity. In this study, we employed the programmable nuclease (PN) Cas‐CLOVER to precisely target the Glutamine synthetase (GS) locus in CHO cells. A
Tiffany McLamarrah, Efecan Aral, Michael Hoffman, Jennifer Tedstone, Thomas King, Jason Vitko, Maria João Sebastião, Jose M. Escandell, Mafalda M. Dias, Iona McCall, Daniel Machado, Victor Cairns, Christine DeMaria, John J. Scarcelli   +13 more
wiley   +1 more source