Results 231 to 240 of about 3,786,126 (364)

Cytogenetics and Cytogenomics in Clinical Diagnostics: Genome Architecture, Structural Variants, and Translational Applications. [PDF]

Genes (Basel)
Federico C, Brancato D, Bruno F, Coniglio E, Sturiale V, Saccone S.   +5 more
europepmc   +1 more source

Erratum: A genome screen of 13 bipolar affective disorder pedigrees provides evidence for susceptibility loci on chromosome 3 as well as chromosomes 9, 13 and 19 [PDF]

, 2004
R F Badenhop, Matthew Moses, A Scimone, Philip B. Mitchell, K R Ewen-White, A Rosso, Jennifer A. Donald, L J Adams, Peter R. Schofield   +8 more
openalex   +1 more source

Chromosome instability syndromes

Nature Reviews Disease Primers, 2018
A. Taylor, C. Rothblum-Oviatt, N. Ellis, I. Hickson, Stefan Meyer, S. Meyer, T. Crawford, A. Smogorzewska, B. Pietrucha, C. Weemaes, G. Stewart   +10 more
semanticscholar   +1 more source

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel   +5 more
wiley   +1 more source

Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report. [PDF]

Case Rep Genet
Lee Curtis D, Bekheirnia N, Potocki L, Matyakhina L, Bekheirnia MR.   +4 more
europepmc   +1 more source

Autism spectrum disorders associated with X chromosome markers in French-Canadian males [PDF]

, 2005
J Gauthier, Ridha Joober, Marie‐Pierre Dubé, Judith St‐Onge, Anne-Marie Bonnel, D Gariépy, S. B. Laurent, Robert Najafee, Hélène Lacasse, L St-Charles, Éric Fombonne, Laurent Mottron, GA Rouleau   +12 more
openalex   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

PURA syndrome-a genetic cause of a neurodevelopmental disorder-case report. [PDF]

Front Pediatr
Kobak J, Szczupak M, Czerkiewicz K, Bielocerkowski S, Krupa-Nurcek S.   +4 more
europepmc   +1 more source

A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

, 2002
Mari Auranen, Raija Vanhala, Teppo Varilo, Kristin L. Ayers, Elli Kempas, Tero Ylisaukko‐oja, Janet S. Sinsheimer, Leena Peltonen, Irma Järvelä   +8 more
openalex   +1 more source

Analysis of loss of heterozygosity and X chromosome inactivation in spleens with myeloproliferative disorders and acute myeloid leukemia [PDF]

, 2005
Dennis P. O’Malley, Attilio Orazi, Ming‐Sheng Wang, Liang Cheng   +3 more
openalex   +1 more source