Results 51 to 60 of about 40,082 (242)

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

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation [PDF]

, 2011
Background To identify the genetic defect associated with autosomal recessive congenital cataract (ARCC), mental retardation (MR) and ARCC, MR and microcephaly present in most patients in four Tunisian consanguineous families.
Manèl Chograni, Myriam Chaabouni, Faouzi Mâazoul, Hedi Bouzid, Abdelhafid Kraiem, Habiba B Bouhamed Chaabouni   +5 more
core   +1 more source

Clinical Characteristics and Surgical Procedures for Children with Congenital Membranous Cataract

Journal of Ophthalmology, 2017
Objective. In a group case series, the clinical characteristics of congenital membranous cataract in children were studied to establish a system of classification and determine the surgical method suited for each type. Methods.
Jingji Long, Daoman Xiang, Zheng Guo, Lihong Chen, Feng Chen, Jianxun Wang, Wanhua Xie, Shiping He   +7 more
doaj   +1 more source

A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract

BMC Ophthalmology, 2022
Background To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China. Methods Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential ...
Ruru Guo, Dandan Huang, Jian Ji, Wei Liu
doaj   +1 more source

Two Central Nervous System Tumors in One Catheter Lab: Time to Rethink Radiation Protection

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Very little research has been done on the possible effects that repeated, frequent, and low‐dose ionizing radiation exposure has on the long‐term health of interventional cardiologists. Aims Following the diagnosis in the same year of two central nervous system tumors in two operators working in the same catheter laboratory, we ...
James R. Bentham, John D. R. Thomson
wiley   +1 more source

First-year experience of chemotherapy for advanced retinoblastoma in Tanzania: disease profile, outcomes, and challenges in 2008.

, 2011
PURPOSE: To examine the profile of retinoblastoma in a national tertiary referral center in Tanzania and to report first-year outcomes of its treatment using chemotherapy. METHODS: All patients with retinoblastoma referred in 2008 were included.
Bowman, Richard J, Carrim, Zia I, Kajaige, Jane, Lavy, Tim E, Scanlan, Patricia   +4 more
core   +1 more source

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract [PDF]

, 2016
© 2016 Javadiyan et al. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium,
Burdon, Kathryn Penelope, Casey, Theresa, Craig, Jamie E, Hodson, T, Javadiyan, Shahrbanou, Lower, Karen Marie, Pater, John Brian, Sharma, Shiwani, Souzeau, Emmanuelle   +8 more
core   +3 more sources

Clinical Features of Congenital and Developmental Cataract in East China: A Five-year Retrospective Review

Scientific Reports, 2017
Congenital/developmental cataract is a significant cause of blindness in children worldwide. Full knowledge of clinical features is essential for early diagnosis and proper treatment to prevent irreversible visual impairment. We conducted a retrospective
Xiangjia Zhu, Yu Du, Wenwen He, Ting Sun, Yinglei Zhang, Ruiqi Chang, Keke Zhang, Yi Lu   +7 more
doaj   +1 more source

Novel mutations in HSF4 cause congenital cataracts in Chinese families

BMC Medical Genetics, 2018
Background Congenital cataract, a kind of cataract presenting at birth or during early childhood, is a leading cause of childhood blindness. To date, more than 30 genes on different chromosomes are known to cause this disorder.
Zongfu Cao, Yihua Zhu, Lijuan Liu, Shuangqing Wu, Bing Liu, Jianfu Zhuang, Yi Tong, Xiaole Chen, Yongqing Xie, Kaimei Nie, Cailing Lu, Xu Ma, Juhua Yang   +12 more
doaj   +1 more source