Literature DB >> 11929362

Genetic epidemiology and congenital malformations: from the chromosome to the crib.

Charlotte A Hobbs1, Mario A Cleves, Caroline J Simmons.   

Abstract

Entities:  

Mesh：

Year:  2002        PMID： 11929362     DOI： 10.1001/archpedi.156.4.315

Source DB:  PubMed          Journal:  Arch Pediatr Adolesc Med        ISSN： 1072-4710


× No keyword cloud information.
  11 in total

1.  A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

Authors:  Vincent Procaccio; Gloria Salazar; Shoichiro Ono; Melanie L Styers; Marla Gearing; Antonio Davila; Richard Jimenez; Jorge Juncos; Claire-Anne Gutekunst; Germana Meroni; Bianca Fontanella; Estelle Sontag; Jean Marie Sontag; Victor Faundez; Bruce H Wainer
Journal:  Am J Hum Genet       Date:  2006-04-21       Impact factor: 11.025

Review 2.  Accelerated Cardiac Aging in Patients With Congenital Heart Disease.

Authors:  Dominga Iacobazzi; Valeria Vincenza Alvino; Massimo Caputo; Paolo Madeddu
Journal:  Front Cardiovasc Med       Date:  2022-05-26

3.  A Three-Way Interaction among Maternal and Fetal Variants Contributing to Congenital Heart Defects.

Authors:  Ming Li; Jingyun Li; Changshuai Wei; Qing Lu; Xinyu Tang; Stephen W Erickson; Stewart L MacLeod; Charlotte A Hobbs
Journal:  Ann Hum Genet       Date:  2015-11-27       Impact factor: 1.670

Review 4.  Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics.

Authors:  Charlotte A Hobbs; Shimul Chowdhury; Mario A Cleves; Stephen Erickson; Stewart L MacLeod; Gary M Shaw; Sanjay Shete; John S Witte; Benjamin Tycko
Journal:  JAMA Pediatr       Date:  2014-04       Impact factor: 16.193

5.  A genetic association study detects haplotypes associated with obstructive heart defects.

Authors:  Ming Li; Mario A Cleves; Himel Mallick; Stephen W Erickson; Xinyu Tang; Todd G Nick; Stewart L Macleod; Charlotte A Hobbs
Journal:  Hum Genet       Date:  2014-06-04       Impact factor: 4.132

6.  A population-based case-control study of the association between weather-related extreme heat events and orofacial clefts.

Authors:  Aida Soim; Scott C Sheridan; Syni-An Hwang; Wan-Hsiang Hsu; Sarah C Fisher; Gary M Shaw; Marcia L Feldkamp; Paul A Romitti; Jennita Reefhuis; Peter H Langlois; Marilyn L Browne; Shao Lin
Journal:  Birth Defects Res       Date:  2018-10-19       Impact factor: 2.344

Review 7.  Preimplantation Genetic Testing: Where We Are Today.

Authors:  Ermanno Greco; Katarzyna Litwicka; Maria Giulia Minasi; Elisabetta Cursio; Pier Francesco Greco; Paolo Barillari
Journal:  Int J Mol Sci       Date:  2020-06-19       Impact factor: 5.923

8.  Determinants and seasonality of major structural birth defects among newborns delivered at primary and referral hospital of East and West Gojjam zones, Northwest Ethiopia 2017-2018: case-control study.

Authors:  Binalfew Tsehay; Desalegn Shitie; Akilog Lake; Erimiyas Abebaw; Amisalu Taye; Enatinesh Essa
Journal:  BMC Res Notes       Date:  2019-08-09

9.  Effect of paternal age on offspring birth defects: a systematic review and meta-analysis.

Authors:  Yiwei Fang; Yongfeng Wang; Meilin Peng; Jia Xu; Zunpan Fan; Chunyan Liu; Kai Zhao; Huiping Zhang
Journal:  Aging (Albany NY)       Date:  2020-11-20       Impact factor: 5.682

10.  Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects.

Authors:  Fabricio González-Andrade; Ramiro López-Pulles
Journal:  Appl Clin Genet       Date:  2012-04-14
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.