Loading...
Search for:
consanguinity
0.005 seconds
Comparison characteristics of family and demographic of children with antenatal hydronephrosis between 2nd and 3rd trimesters of gestation
, Article Iranian Journal of Public Health ; Volume 47, Issue 2 , February , 2018 , Pages 273-279 ; 22516085 (ISSN) ; Kajbafzadeh, A. M ; Mohammad, K ; Rahimi Foroushani, A ; Hojjat, A ; Seyedtabib, M ; Nazemipour, A ; Mahmoudi, M ; Sharif University of Technology
Iranian Journal of Public Health
2018
Abstract
Background: The aim of this study was comparison characteristics of family and demographics of children with antenatal hydronephrosis, in 2nd and 3rd trimester of pregnancy, in order to the need for postnatal management. Methods: This cross-sectional study described some information from family of children with antenatal hydronephrosis, at the Pediatric Urology Research Center of Children’s Hospital Medical Center of Tehran University of Medical Sciences. Data for 193 children, admitted in 2012-2013, were collected retrospectively. They were allocated to two groups of 2nd and 3rd trimester, based on the time of diagnosis antenatal hydronephrosis. Data analysis was done using SPSS....
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
, Article Journal of Human Genetics ; Volume 66, Issue 10 , 2021 , Pages 1009-1018 ; 14345161 (ISSN) ; Raza, S. I ; Anwar, M. Z ; Bharadwaj, T ; Liaqat, K ; Khokhar, M. A. S ; Everard, J. L ; Nasir, A ; Nickerson, D. A ; Bamshad, M. J ; Ansar, M ; Schrauwen, I ; Ahmad, W ; Leal, S. M ; University of Washington Center for Mendelian Genomics ; Sharif University of Technology
Springer Nature
2021
Abstract
Background: Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2. Methods: We evaluated the underlying molecular etiology of three affected members of a consanguineous family with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities via exome sequencing approach. We correlated clinical and imaging data with the genetic findings and their associated phenotypes. Results: We identified a homozygous missense variant p.(Asn1097Lys) in CDK13, a gene previously...
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
, Article Journal of Human Genetics ; Volume 66, Issue 10 , 2021 , Pages 1009-1018 ; 14345161 (ISSN) ; Raza, S. I ; Zeeshan Anwar, M ; Bharadwaj, T ; Liaqat, K ; Khokhar, M. A. S ; Everard, J. L ; Nasir, A ; Nickerson, D. A ; Bamshad, M. J ; Ansar, M ; Schrauwen, I ; Ahmad, W ; Leal, S. M ; Sharif University of Technology
Springer Nature
2021
Abstract
Background: Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2. Methods: We evaluated the underlying molecular etiology of three affected members of a consanguineous family with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities via exome sequencing approach. We correlated clinical and imaging data with the genetic findings and their associated phenotypes. Results: We identified a homozygous missense variant p.(Asn1097Lys) in CDK13, a gene previously...