Results 81 to 90 of about 124,374 (336)

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, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

TRIPLOID KARYOTYPES IN PRENATAL DIAGNOSIS AT UNIVERSITY CLINICAL CENTER OF REPUBLIC OF SRPSKA

Genetics & Applications, 2017
Triploidy is chromosomal abnormality characterized by the presence of three sets of chromosomes instead of the normal two sets, so the triploid fetus has 69 chromosomes.
Marija Vuković, Zoran Obradović, Radmila Malešević, Željko Karan, Dženita Kurtćehajić, Svjetlana Uletilović, Branka Samardžić, Tijana Jaroš   +7 more
doaj  

Chromosome analysis of arsenic affected cattle [PDF]

Veterinary World, 2014
Aim: The aim was to study the chromosome analysis of arsenic affected cattle. Materials and Methods: 27 female cattle (21 arsenic affected and 6 normal) were selected for cytogenetical study.
S. Shekhar, A. K. Sahoo, N. Dalai, P. Chaudhary, P. K. Praveen, R. Saikhom, R. Rai   +6 more
doaj  

The application of an in situ karyotyping technique for mesenchymal stromal cells: a validation and comparison study with classical G-banding

Experimental and Molecular Medicine, 2013
The cytogenetic analysis of mesenchymal stromal cells (MSCs) is essential for verifying the safety and stability of MSCs. An in situ technique, which uses cells grown on coverslips for karyotyping and minimizes cell manipulation, is the standard protocol
S. M. Hwang, C. See, Jung-Eun Choi, Seon Young Kim, Q. Choi, Jung Ah Kim, Jiseok Kwon, S. N. Park, Kyongok Im, I. Oh, D. S. Lee   +10 more
semanticscholar   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

A method for stabilising the XX karyotype in female mESC cultures

, 2022
Andrew Keniry, Natasha Jansz, Peter F. Hickey, Kelsey Breslin, Megan Iminitoff, Tamara Beck, Quentin Gouil, Matthew E. Ritchie, Marnie E. Blewitt   +8 more
openalex   +1 more source

Establishment of Interspecies Somatic Cell Nuclear Transfer and Transgene‐Free Inducible Pluripotent Stem Cells for Versatile Conservation of the Germplasm Resource of Wild Boar

Animal Research and One Health, EarlyView.
Conserving genetic material and even increasing genetic diversity is critical. To conduct the conservation of wild boar germplasm resources, we have successfully obtained healthy cloned wild boars for the first time using interspecies somatic cell nuclear transfer and established transgene‐free iPSCs that can be used to conduct iterative rounds of gene
Chen Gao, Xinyi Zhou, Shigang Gu, Jianbo Li, Jing Wang, Yurong Zhang, Wenxuan Zhao, Xinhua Wei, Liting Lu, Quanmin Zhao, Yongye Huang, Dawei Yu   +11 more
wiley   +1 more source

An Additional Report of a Female With a Complex XY Translocation Is Presented Who Has Successfully Completed a Pregnancy With Significant Y Chromosome Material Gain and Partial X Deletion

American Journal of Medical Genetics Part A, EarlyView.
John Coleman, Nicola Walsh, Deborah M. Lambert, Andrew Green, Sally Ann Lynch   +4 more
wiley   +1 more source

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arthritis &Rheumatology, EarlyView.
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heilblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson   +111 more
wiley   +1 more source

Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion

Molecular Cytogenetics, 2012
Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications, and can overcome many of the limitations associated with classic cytogenetic analysis.
Jinsong Gao, Congcong Liu, F. Yao, N. Hao, Jing Zhou, Qian Zhou, Liang Zhang, Xinyan Liu, X. Bian, Juntao Liu   +9 more
semanticscholar   +1 more source