Results 101 to 110 of about 2,310,607 (369)

Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

Indian Journal of Human Genetics, 2013
BACKGROUND: Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages.
F. Sheth, T. Liehr, P. Kumari, R. Akinde, H. Sheth, J. Sheth   +5 more
semanticscholar   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Genome-wide search for strabismus susceptibility loci. [PDF]

, 2003
The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake, Hasebe, Satoshi, Kitada, Mizue, Matsuo, Toshihiko, Ohtsuki, Hiroshi, Sato, Masako, Yamane, Takashi   +6 more
core   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

Avicenna Journal of Medical Biochemistry, 2016
Background Chromosomal aberrations are one of the most common causes of mental retardation (MR). Objectives In this study, in order to identify the rate of chromosomal abnormalities in idiopathic MR, 50 MR ...
Etemadi
doaj   +1 more source

High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells. [PDF]

, 2017
Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) offers the possibility of studying the molecular mechanisms underlying human diseases in cell types difficult to extract from living patients, such as neurons and cardiomyocytes.
Arias, Angelo, D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Frazer, Kelly A, Goldstein, Lawrence SB, Herrera, Cheryl, Matsui, Hiroko, Nathanson, Jason L, Panopoulos, Athanasia D, Reyna, Sol M, Williams, Roy, Woodruff, Grace, Yeo, Gene W   +12 more
core   +2 more sources

Risk of Chromosomal Abnormalities in Early Spontaneous Abortion after Assisted Reproductive Technology: A Meta-Analysis

PLoS ONE, 2013
Background Studies on the risk of chromosomal abnormalities in early spontaneous abortion after assisted reproductive technology (ART) are relatively controversial and insufficient.
Junzhen Qin, Li-hong Pang, Min-qing Li, Jing Xu, Xing Zhou   +4 more
semanticscholar   +1 more source

3D Multicellular Scaffold Based Model for Advancing Bone Disorder Research

Advanced Functional Materials, EarlyView.
A scalable 3D multicellular in vitro bone model engineered by integrating osteoblasts, osteoclasts, and endothelial cells on biodegradable scaffolds. The system recapitulates key features of human bone remodeling and disease pathology. As a proof of concept, the model mimics osteogenesis imperfecta, demonstrating its potential as a physiologically ...
Gali Guterman‐Ram, Majd Machour, Janette Zavin, Roy Meretzki, Reut Lev‐Ari, Shulamit Levenberg   +5 more
wiley   +1 more source

Previously Unreported Chromosomal Aberrations of t(3;3)(q29;q23), t(4;11)(q21;q23), and t(11;18)(q10;q10) in a Patient with Accelerated Phase Ph+ CML

Case Reports in Genetics, 2014
Chronic myelogenous leukemia (CML) is a clonal hematological disorder, which is characterized by the presence of the classical or variant Philadelphia translocations.
Cigdem Aydin, Zafer Cetin, Ozan Salim, Orhan Kemal Yucel, Levent Undar, Sibel Berker Karauzum   +5 more
doaj   +1 more source

Association of recurrent pregnancy loss with chromosomal abnormalities and hereditary thrombophilias.

African Health Sciences, 2013
BACKGROUND Recurrent pregnancy loss (RPL) which is generally known as >3 consecutive pregnancy losses before 20 weeks' gestation is seen in 0.5-2% of women.
Zeynep Ocak, T. Ozlu, Osman Nuri Özyurt, Izzet Baysal   +3 more
semanticscholar   +1 more source