Literature DB >> 15121798

Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation.

S Ogino1, R B Wilson, W W Grody.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15121798      PMCID： PMC1735756          DOI： 10.1136/jmg.2003.015065

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  18 in total

1.  The risk of cystic fibrosis with prenatally detected echogenic bowel in an ethnically and racially diverse North American population.

Authors:  K G Monaghan; G L Feldman
Journal:  Prenat Diagn       Date:  1999-07       Impact factor: 3.050

2.  The clinical significance of fetal echogenic bowel.

Authors:  H B Al-Kouatly; S T Chasen; J Streltzoff; F A Chervenak
Journal:  Am J Obstet Gynecol       Date:  2001-11       Impact factor: 8.661

Review 3.  Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

Authors:  Joseph L Bobadilla; Milan Macek; Jason P Fine; Philip M Farrell
Journal:  Hum Mutat       Date:  2002-06       Impact factor: 4.878

4.  Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations.

Authors:  S E Hodge; R V Lebo; A R Yesley; S M Cheney; H Angle; J Milunsky
Journal:  Am J Med Genet       Date:  1999-02-12

5.  Prenatal diagnosis of the fetus with cystic fibrosis and meconium ileus.

Authors:  M S Irish; J M Ragi; H Karamanoukian; D S Borowitz; D Schmidt; P L Glick
Journal:  Pediatr Surg Int       Date:  1997-07       Impact factor: 1.827

6.  Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

Authors:  F Muller; M Dommergues; B Simon-Bouy; C Ferec; J F Oury; M C Aubry; R Bessis; E Vuillard; E Denamur; T Bienvenu; J L Serre
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

7.  Prevalence of cystic fibrosis mutations in pregnancies with fetal echogenic bowel.

Authors:  W Sepulveda; K Y Leung; M E Robertson; E Kay; E S Mayall; N M Fisk
Journal:  Obstet Gynecol       Date:  1996-01       Impact factor: 7.661

8.  Prognostic implications of fetal echogenic bowel.

Authors:  R N Slotnick; A Z Abuhamad
Journal:  Lancet       Date:  1996-01-13       Impact factor: 79.321

9.  Isolated hyperechoic fetal bowel: significance and implications for management.

Authors:  S N MacGregor; R Tamura; R Sabbagha; J K Brenhofer; M P Kambich; E Pergament
Journal:  Am J Obstet Gynecol       Date:  1995-10       Impact factor: 8.661

10.  Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

Authors:  W W Grody; G R Cutting; K W Klinger; C S Richards; M S Watson; R J Desnick
Journal:  Genet Med       Date:  2001 Mar-Apr       Impact factor: 8.822
View more
  6 in total

Review 1.  Bayesian analysis and risk assessment in genetic counseling and testing.

Authors:  Shuji Ogino; Robert B Wilson
Journal:  J Mol Diagn       Date:  2004-02       Impact factor: 5.568

2.  Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.

Authors:  Alix de Becdelièvre; Catherine Costa; Jean-Marie Jouannic; Annick LeFloch; Irina Giurgea; Josiane Martin; Rachel Médina; Brigitte Boissier; Christine Gameiro; Françoise Muller; Michel Goossens; Corinne Alberti; Emmanuelle Girodon
Journal:  Hum Genet       Date:  2010-12-24       Impact factor: 4.132

3.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Authors:  Els Dequeker; Manfred Stuhrmann; Michael A Morris; Teresa Casals; Carlo Castellani; Mireille Claustres; Harry Cuppens; Marie des Georges; Claude Ferec; Milan Macek; Pier-Franco Pignatti; Hans Scheffer; Marianne Schwartz; Michal Witt; Martin Schwarz; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

4.  Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.

Authors:  Elinor Langfelder-Schwind; Barbara Karczeski; Michelle N Strecker; Joy Redman; Elaine A Sugarman; Christina Zaleski; Trisha Brown; Steven Keiles; Amy Powers; Sumheda Ghate; Rebecca Darrah
Journal:  J Genet Couns       Date:  2013-09-07       Impact factor: 2.537

5.  Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Authors:  Elinor Langfelder-Schwind; Edward Kloza; Elaine Sugarman; Barbara Pettersen; Trisha Brown; Kim Jensen; Seth Marcus; Joy Redman
Journal:  J Genet Couns       Date:  2005-02       Impact factor: 2.537

6.  Bayesian risk assessment in genetic testing for autosomal dominant disorders with age-dependent penetrance.

Authors:  Shuji Ogino; Robert B Wilson; Bert Gold; Pamela Flodman
Journal:  J Genet Couns       Date:  2007-02-13       Impact factor: 2.537
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.