Results 251 to 260 of about 2,310,607 (369)

Partial Trisomy of Chromosome 9 Inherited by Adjacent Segregation 2 of a Balanced Reciprocal Translocation in the Mother: Rare Mechanism in Chromosomal Abnormalities. [PDF]

Balkan J Med Genet
Zerrouki K, Aouni FE, Smaili F, Ahmidi J, Meziane S, Ahmidouch K, Tajir M.   +6 more
europepmc   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Chromosomal abnormalities in couples with recurrent pregnancy loss: a 16-year cross-sectional study of 4030 cases from Turkey. [PDF]

Ann Saudi Med
Aynaci S, Kocagil S, Tosumoglu E, Susam E, Kilic B, Gokalp EE, Cilingir O, Aras BD, Tekin B, Artan S.   +9 more
europepmc   +1 more source

Chromosomal Abnormalities in Cultured Leucocyte Cells from Itai Itai Disease Patients

, 1972
Yukimasa Shiraishi, Tosihide H. YOSIDA
openalex   +2 more sources

Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis

Ultrasound in Obstetrics and Gynecology, 2013
I. Mademont-Soler, Carme Morales, A. Soler, J. Martinez‐Crespo, Y. Shen, E. Margarit, N. Clusellas, M. Obón, B. Wu, Aurora Sánchez   +9 more
semanticscholar   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

HMGA2 overexpression with specific chromosomal abnormalities predominate in CALR and ASXL1 mutated myelofibrosis. [PDF]

Leukemia
Handa S, Schaniel C, Tripodi J, Ahire D, Mia MB, Klingborg S, Tremblay D, Marcellino BK, Hoffman R, Najfeld V.   +9 more
europepmc   +1 more source

Moderate ovarian stimulation does not increase the incidence of human embryo chromosomal abnormalities in in vitro fertilization cycles.

Journal of Clinical Endocrinology and Metabolism, 2012
E. Labarta, E. Bosch, P. Alamá, C. Rubio, L. Rodrigo, A. Pellicer   +5 more
semanticscholar   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Chromosomal Abnormality

, 2017
John H. Duffus, Michael Schwenk, Douglas M. Templeton   +2 more
openalex   +2 more sources