Results 71 to 80 of about 3,861,183 (367)

The spectrum and prevalence of genetic pathology among children and adolescents of the northern districts of kharkiv region

Актуальні проблеми сучасної медицини, 2019
The spectrum and prevalence of genetic pathology among the population of a certain region are determined by the founder effect and microevolution factors and, therefore, are not always comparable in different countries.
Olena Fedota, Iurii Sadovnychenko, Mykola Hryshchenko, Kostiantyn Tyshchenko, Yana Hryshchenko
doaj  

Pre-implantation Genetic Testing for Aneuploidy (PGT-A)

Thai Journal of Obstetrics and Gynaecology, 2020
Preimplantation genetic diagnosis (PGD) or embryo selection was first performed in 1989 using PCR for gender selection to avoid X-linked recessive disorder. However, there was a misdiagnosis due to allele drop out (ADO). Therefore, fluorescent in situ
Wirawit Piyamongkol
doaj   +1 more source

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

Translational Psychiatry, 2012
The striking excess of affected males in autism spectrum disorders (ASD) suggests that genes located on chromosome X contribute to the etiology of these disorders.
C. Nava, F. Lamari, D. Heron, C. Mignot, Agnès Rastetter, Agnès Rastetter, Agnès Rastetter, B. Keren, D. Cohen, A. Faudet, D. Bouteiller, M. Gilleron, A. Jacquette, S. Whalen, A. Afenjar, D. Perisse, Claudine Laurent, Claudine Laurent, C. Dupuits, C. Gautier, C. Gautier, M. Gérard, G. Huguet, G. Huguet, S. Caillet, B. Leheup, M. Leboyer, C. Gillberg, R. Delorme, T. Bourgeron, T. Bourgeron, A. Brice, C. Depienne   +32 more
semanticscholar   +1 more source

Chromosome 1p13 genetic variants antagonize the risk of myocardial infarction associated with high ApoB serum levels [PDF]

, 2012
PMCID: PMC3480949This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided ...
A Dempfle, AP Burke, B Gigante, B Gigante, Bruna Gigante, C Reuterwall, C Schmegner, CJ Willer, CS Greene, D Altshuler, E Jakkula, E Salmela, E Zotova, J Karvanen, JP Ioannidis, KA Eagle, Karin Leander, KJ Rothman, KT Zondervan, M Lundberg, Max Vikström, MS Sandhu, NJ Samani, NJ Samani, P Linsel-Nitschke, S Kathiresan, S Kathiresan, S Kathiresan, S Purcell, S Sanna, Shu Ye, TA Manolio, Ulf de Faire, YJ Liu   +33 more
core   +2 more sources

Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities

Annals of Clinical and Translational Neurology, EarlyView.
Chronic pain affected 66.2% of 10,631 individuals with Parkinson's disease, with higher prevalence and severity in females. Pain most often involved the buttocks, lower back, neck, and knees, and was linked to depression, sleep disorders, and osteoarthritis.
Natalia S. Ogonowski, Freddy Chafota, Fangyuan Cao, Amanda Wei Yin Lim, Victor Flores‐Ocampo, Santiago Díaz‐Torres, Zuriel Ceja, Luis M. García‐Marín, Scott F. Farrell, Kishore R. Kumar, Jane Alty, George D. Mellick, Trung Thành Ngô, Miguel E. Rentería   +13 more
wiley   +1 more source

Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
Background: infertility is a clinical problem with a significant social medical impact on the health of the couple. It is considered that 36 % of the genetic causes of infertility are caused by chromosomal aberrations.Objective: to describe the results ...
Enelis Reyes Reyes, Nora María Orive Rodríguez, Glenys Katiuska Silva González, Lisset Romero Portelles, Ivette Díaz Plá   +4 more
doaj  

A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia

Case Reports in Endocrinology, 2013
Disorders of sex development (DSD), formerly termed “intersex” conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD.
Lei Zhang, Linda D. Cooley, Sonal R. Chandratre, Atif Ahmed, Jill D. Jacobson   +4 more
doaj   +1 more source

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13

Neurobiology of Disease, 2010
Human chromosome 15q11–q13 is subject to regulation by genomic imprinting, an epigenetic process by which genes are expressed in a parent-of-origin specific manner.
Stormy J. Chamberlain, Marc Lalande
doaj   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans [PDF]

, 2011
Increasing evidence suggests imprinted genes influence mouse and human behaviors and cognitive functions. Unlike autosomal imprinted genes, X-linked imprinted genes are expressed in a sex-dependent manner because of male hemizygosity.
Akihiro Yachie, Yo Niida
core   +1 more source