Results 241 to 250 of about 812,203 (315)

Role of Erythropoietin in 7,12-Dimethylbenz(a)anthracene Induction of Acute Chromosome Aberration and Leukemia in the Rat

, 1971
Taketoshi Sugiyama
openalex   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Chromosome Aberrations in Workers Exposed to Arsenic

, 1977
G. Beckman, L. Beckman, Ingrid Nordenson
openalex   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Screening for fetal chromosome aberrations in early pregnancy

, 1976
M.A. Ferguson‐Smith, M Ferguson-Smith
openalex   +1 more source

Induction of centrosome and chromosome aberrations by imatinib in vitro

Leukemia, 2005
A. Fabarius, M. Giehl, O. Frank, Peter H. Duesberg, Peter H. Duesberg, A. Hochhaus, Ruediger Hehlmann, W. Seifarth   +7 more
semanticscholar   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source

A Short History and Description of Drosophila melanogaster Classical Genetics: Chromosome Aberrations, Forward Genetic Screens, and the Nature of Mutations. [PDF]

Genetics, 2017
Kaufman TC.
europepmc   +1 more source

Chromosome Aberrations Induced by Monomeric Acrylamide in Germ Cells of Mice

, 1978
Yukimasa Shiraishi, Keizô Yamamoto
openalex   +2 more sources

Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non‐mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized.
Ruth C. Brown, Allison D'Aguilar, Quinn Hurshman, Rebekah NailorZee, Timothy P. York, George Capone, Ananda B. Amstadter, Colleen Jackson‐Cook   +7 more
wiley   +1 more source