Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Kornreich Ruth, Ekstein Josef, Edelmann Lisa, Desnick Robert J

Abstract excerpt

PURPOSE: Since the early 1990s, Dor Yeshorim (DY) and the Mount Sinai School of Medicine (MSSM) have conducted premarital and prenatal carrier screening for cystic fibrosis (CF) in the Ashkenazi Jewish (AJ) population as part of their genetic testing programs, respectively. Together, over 170,000 screenees have been tested. In this study, we report the CF mutation frequencies in over 110,000 screenees who...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Genetic Testing

Share to Heterozygote

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 15371906
DOI: 10.1097/01.gim.0000139510.00644.f7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.PMID 15371906Read ↗

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.Semantic proximity Read ↗

Ashkenazi Jewish screening in the twenty-first century.Semantic proximity Read ↗

Cystic fibrosis in Jews: frequency and mutation distribution.Semantic proximity Read ↗

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.Semantic proximity Read ↗

Cystic fibrosis mutations with widely variable phenotype: the D1152H example.Semantic proximity Read ↗

Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.Semantic proximity Read ↗

Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.Semantic proximity Read ↗

Prenatal genetic screening in the Ashkenazi Jewish population.Semantic proximity Read ↗

ACOG Committee Opinion No. 442: Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish DescentSemantic proximity Read ↗

ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent.Semantic proximity Read ↗

Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent.Semantic proximity Read ↗

Ashkenazi Jewish genetic disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.