Relationship Between the Radiation Dose and Chromosome Aberrations in Atomic Bomb Survivors of Hiroshima and Nagasaki [PDF]
, 1978 A A Awa +5 more
openalex +1 more source
Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina +6 more
wiley +1 more source
Growth Charts for Children With Beckwith–Wiedemann Spectrum
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas +11 more
wiley +1 more source
Straightening Beta: Overdispersion of Lethal Chromosome Aberrations following Radiotherapeutic Doses Leads to Terminal Linearity in the Alpha-Beta Model. [PDF]
Front Oncol, 2017 Shuryak I, Loucas BD, Cornforth MN.
europepmc +1 more source
Increased frequency of chromosome aberrations in workers exposed to styrene.
, 1979 Benkt Högstedt +5 more
openalex +2 more sources
Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti +11 more
wiley +1 more source
Mutagenic and genotoxic effects of Anilofos with micronucleus, chromosome aberrations, sister chromatid exchanges and Ames test. [PDF]
Cytotechnology, 2017 Akyil D +4 more
europepmc +1 more source
A Study on Time- and Radiation-dependent Changes in the Frequency of Lymphocytes with Chromosome Aberrations in the Circulation, Following Multiple Exposures of the Pelvis to γ-Irradiation [PDF]
, 1970 Hiroaki Tamura +2 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini +8 more
wiley +1 more source
Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT. [PDF]
Mol Cytogenet, 2016 Srebniak MI +11 more
europepmc +1 more source