Results 221 to 230 of about 408,908 (290)

Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy. [PDF]

Clin Case Rep
Assaf N, El Hajj J, Doghman J, Hussein F, Khalifeh S.   +4 more
europepmc   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

MASQ: A multiplex qPCR platform for quantitative alternative splicing analysis in clinical specimens. [PDF]

Mol Ther Nucleic Acids
Jeong H, Cho N, Park JI, Yoo HJ, Kim KK.
europepmc   +1 more source

Late Onset Telomere Biology Disorder Presenting With Pancytopenia, Immune Dysregulation, Interstitial Lung Disease and Alopecia

American Journal of Hematology, EarlyView.
Bo A. Wan, Hamish Nicolson, Heather A. Leitch, Ryan J. Stubbins, Luke Y. C. Chen, Timothy Murray, Amy Trottier, Anthony Gador   +7 more
wiley   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Insights into TNXB-Related Classical-Like Ehlers-Danlos Syndrome: A Study of Polish Patients. [PDF]

Open Access Rheumatol
Junkiert-Czarnecka A, Pilarska-Deltow M, Kacprzak MM, Łobodzińska A, Sobczyńska-Tomaszewska A, Linkowska K, Grzybowski T, Haus O.   +7 more
europepmc   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Competition for the conserved branch point sequence influences physiological outcomes in pre-mRNA splicing. [PDF]

Elife
Pereira de Castro KL, Abril JM, Liao KC, Hao H, Donohue JP, Russell WK, Fagg WS.   +6 more
europepmc   +1 more source