Results 241 to 250 of about 69,276 (291)

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

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

Cytogenetic Profile of Chromosomal Aberrations in Leukemia Using the Fluorescence In Situ Hybridization (FISH) Method at a Tertiary Institution in Gauteng Province. [PDF]

Diagnostics (Basel)
Duma Z, Matsepane KC, Nkoana K, Pheeha SM, Mbele B, Simela-Tshabalala T, Tanyanyiwa DM.   +6 more
europepmc   +1 more source

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring, Rebecca Hicks, Julia Sloan, Estefania Ramires‐Sanchez, Bianca E. Russell   +4 more
wiley   +1 more source

Cytogenetic landscape aberrations in paediatric acute lymphoblastic leukaemia - a polish paediatric population treated according to ALL-IC BFM 2009 protocol. [PDF]

Sci Rep
Lejman M, Styka B, Zawitkowska J, Pastwińska A, Studniak E, Skonieczka K, Zacharczuk M, Całka K, Haus O, Barbara P, Sadowska B, Przybyłowicz-Chalecka A, Jarmuż-Szymczak M, Malm M, Drop B, Kowalczyk JR.   +15 more
europepmc   +1 more source

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto, Hisateru Tachimori, Tomoki Kosho, Kanta Kishi, Noboru Motomura, Yasutaka Hirata   +5 more
wiley   +1 more source

Optimizing chromosome dispersion quality: the key role of cell density. [PDF]

Front Cell Dev Biol
Gao CX, Li LM, Chen YT, Guo YY, Li BX, Yang XQ, Hui CY.   +6 more
europepmc   +1 more source

Cancer: From a Genetic Disorder to a Systemic Disease

Advanced Science, EarlyView.
Ada Hang‐Heng Wong, Yuming Hu
wiley   +1 more source

Investigation of balanced chromosomal aberrations prevalence in healthy Turkish Cypriot couples. [PDF]

Glob Med Genet
Deryali D, Cobanogullari H, Ergoren MC.
europepmc   +1 more source

Chromosomal quality control in hPSCs: A practical guide to SNP array analysis with GenomeStudio. [PDF]

Front Cell Dev Biol
Haake J, Steenpass L.
europepmc   +1 more source