Results 201 to 210 of about 2,524,105 (337)

Chromosomal Abnormalities of Interest in Turner Syndrome: An Update. [PDF]

J Pediatr Genet, 2023
Ibarra-Ramírez M, Campos-Acevedo LD, Martínez de Villarreal LE.   +2 more
europepmc   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

A comparative study of dual marker test vs ultrasonography markers for detection of chromosomal abnormalities in patients attending a tertiary care center

Global Journal of Medicine and Public Health
Background It becomes important to detect chromosomal abnormalities prenatally and early in the pregnancy. The present thesis is aimed to assess the performance of prenatal screening tests for chromosomal abnormalities detection i.e., dual ...
S. Sailaja, Bindu Reddy Pamulapati,
doaj  

Integration of molecular diagnostics and karyotyping for enhanced detection of chromosomal abnormalities in fetuses. [PDF]

Arch Med Sci
Sun S, Liu C, Lan X, Tang Y.
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Impact of semen quality and maternal age on blastocyst chromosomal abnormalities: a retrospective cohort study based on 1091 PGT-A cycles. [PDF]

Asian J Androl
Zou Y, Xu X, Xie HQ, Gao M, Liu XW, Wang LJ, Li C, Jing T, Gao X, Yan JH, Chen ZJ, Gao Y.   +11 more
europepmc   +1 more source

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. MartÍnez-Crespo, Y. Shen, E. Margarit, N. Clusellas, M. Obón, B. Wu, Aurora Sánchez   +9 more
semanticscholar   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

A simple nomogram tool for predicting fetal chromosomal abnormalities based on ultrasound soft markers: a research note. [PDF]

BMC Res Notes
Jin C, Yu X, Lei M, Deng P, Li X, Jiang W.   +5 more
europepmc   +1 more source

X chromosomal abnormalities in basal-like human breast cancer.

Cancer Cell, 2006
A. Richardson, Z. Wang, A. Nicolo, A. Nicolo, Xin Lu, Myles A. Brown, A. Miron, Xiaodong Liao, J. D. Iglehart, J. D. Iglehart, D. Livingston, S. Ganesan, S. Ganesan   +12 more
semanticscholar   +1 more source