Results 61 to 70 of about 270,506 (297)

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

Elimination of Congenital Syphilis in Ukraine: Analysis and the Emerging Issues [PDF]

, 2017
The objective of this study is to analyze the indicators of the process of elimination of mother-to-child transmission of syphilis in Ukraine thus helping to prepare for elimination of this process according to the WHO targets and criteria ...
Derevyanko, L. (Lyudmyla)
core   +2 more sources

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Molecular analysis of a large novel deletion causing α+-thalassemia

BMC Medical Genetics, 2019
Background α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia’s diagnosis and ...
Jianlong Zhuang, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan, Yuying Jiang   +10 more
doaj   +1 more source

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review

Molecular Cytogenetics, 2023
Background X/Y translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization. Results This study comprehensively analyzed the clinical and genetic
Shanquan Liu, Jiemei Zheng, Xijing Liu, Yi Lai, Xuan Zhang, Tiantian He, Yan Yang, He Wang, Xuemei Zhang   +8 more
doaj   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review

Molecular Cytogenetics, 2019
Background 46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application of cytogenetic and molecular ...
Fagui Yue, Hongguo Zhang, Qi Xi, Yuting Jiang, Leilei Li, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

Associated factors of secondary sex ratio of offspring in assisted reproductive technology: a cross-sectional study in Jilin Province, China

BMC Pregnancy and Childbirth, 2020
Background The aim of this study was to determine the secondary sex ratio (SSR) of offspring in assisted reproduction technology (ART) in Jilin Province, China, and to analyse the influencing factors associated with SSR.
Mohan Wang, Xiangyin Liu, Han Zhang, Leilei Li, Ruizhi Liu, Hongguo Zhang, Yang Yu   +6 more
doaj   +1 more source

Prenatal origin of childhood AML occurs less frequently than in childhood ALL [PDF]

, 2006
Background While there is enough convincing evidence in childhood acute lymphoblastic leukemia (ALL), the data on the pre-natal origin in childhood acute myeloid leukemia (AML) are less comprehensive.
AM Ford, AT Maia, AT Maia, AT Maia, Bjoern Schneider, C Meyer, Claus Meyer, CM McHale, CM McHale, Felix Votava, GS Makowski, H Kempski, H Kiyoi, J Zuna, Jan Stary, Jan Trka, Jan Zuna, JL Wiemels, JL Wiemels, JL Wiemels, JL Wiemels, Jozef Madzo, JW Taub, K Fasching, Katerina Muzikova, KB Gale, KE Richkind, LK Jones, LL Hjalgrim, LY Shih, MD Megonigal, MF Greaves, MJ Pongers-Willemse, N Goulden, PD Kottaridis, Rolf Marschalek, S Meshinchi, SA Miller, SC Raimondi, T Szczepanski, T Yagi, Tatiana Burjanivova   +41 more
core   +3 more sources

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source