Literature DB >> 11596988

Screening and prevention in Tay-Sachs disease: origins, update, and impact.

M M Kaback1.   

Abstract

Entities:  

Mesh：

Year:  2001        PMID： 11596988     DOI： 10.1016/s0065-2660(01)44084-3

Source DB:  PubMed          Journal:  Adv Genet        ISSN： 0065-2660            Impact factor:   1.944


× No keyword cloud information.
  22 in total

1.  Carrier screening in preconception consultation in primary care.

Authors:  Sylvia A Metcalfe
Journal:  J Community Genet       Date:  2011-12-20

2.  Ashkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic disease.

Authors:  Sherry I Brandt-Rauf; Victoria H Raveis; Nathan F Drummond; Jill A Conte; Sheila M Rothman
Journal:  Am J Public Health       Date:  2006-10-03       Impact factor: 9.308

3.  Therapeutic approaches for lysosomal storage diseases.

Authors:  Gregory M Pastores
Journal:  Ther Adv Endocrinol Metab       Date:  2010-08       Impact factor: 3.565

4.  Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases.

Authors:  Jessica R L Warsch; Sean Warsch; Elizabeth Herman; Lauren Zakarin; Adele Schneider; Jodi Hoffman; Deborah Wasserman; Deborah Barbouth
Journal:  J Community Genet       Date:  2014-01-12

5.  High incidence of later-onset fabry disease revealed by newborn screening.

Authors:  Marco Spada; Severo Pagliardini; Makiko Yasuda; Turgut Tukel; Geetha Thiagarajan; Hitoshi Sakuraba; Alberto Ponzone; Robert J Desnick
Journal:  Am J Hum Genet       Date:  2006-04-28       Impact factor: 11.025

6.  Natural history of infantile G(M2) gangliosidosis.

Authors:  Annette E Bley; Ourania A Giannikopoulos; Doug Hayden; Kim Kubilus; Cynthia J Tifft; Florian S Eichler
Journal:  Pediatrics       Date:  2011-10-24       Impact factor: 7.124

7.  Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

Authors:  Alessandra Colaianni; Subhashini Chandrasekharan; Robert Cook-Deegan
Journal:  Genet Med       Date:  2010-04       Impact factor: 8.822

Review 8.  Population programs for the detection of couples at risk for severe monogenic genetic diseases.

Authors:  Joël Zlotogora
Journal:  Hum Genet       Date:  2009-04-24       Impact factor: 4.132

9.  Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.

Authors:  Michael C Leo; Carmit McMullen; Benjamin S Wilfond; Frances L Lynch; Jacob A Reiss; Marian J Gilmore; Patricia Himes; Tia L Kauffman; James V Davis; Gail P Jarvik; Jonathan S Berg; Cary Harding; Kathleen A Kennedy; Dana Kostiner Simpson; Denise I Quigley; C Sue Richards; Alan F Rope; Katrina A B Goddard
Journal:  Am J Med Genet A       Date:  2016-01-21       Impact factor: 2.802

10.  The Israeli national population program of genetic carrier screening for reproductive purposes.

Authors:  Joël Zlotogora; Itamar Grotto; Ehud Kaliner; Ronni Gamzu
Journal:  Genet Med       Date:  2015-04-16       Impact factor: 8.822
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.