(Q36079248)

12 August 2017

title

Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors (English)

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12 August 2017

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Elinor Langfelder-Schwind

1

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12 August 2017

Edward Kloza

2

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12 August 2017

Elaine Sugarman

3

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12 August 2017

Barbara Pettersen

4

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12 August 2017

Trisha Brown

5

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12 August 2017

Kim Jensen

6

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12 August 2017

Seth Marcus

7

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12 August 2017

Joy Redman

8

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12 August 2017

National Society of Genetic Counselors Subcommittee on Cystic Fibrosis Carrier Testing

9

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12 August 2017

publication date

1 February 2005

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Journal of Genetic Counseling

12 August 2017

published in

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12 August 2017

volume

14

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12 August 2017

issue

1

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12 August 2017

page(s)

1-15

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Cystic fibrosis carrier screening practices in an ethnically diverse region: experience of the Genetic Network of the Empire State, Puerto Rico, and the U.S. Virgin Islands.

12 August 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10897-005-1496-5

The American Society of Human Genetics statement on cystic fibrosis screening

21 January 2018

1 reference

12 December 2020

Couple-based prenatal screening for cystic fibrosis in primary care settings

1 reference

12 December 2020

Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization.

1 reference

12 December 2020

CFTR gene variant IVS8-5T in disseminated bronchiectasis.

1 reference

12 December 2020

Cascade carrier-testing in cystic fibrosis

1 reference

12 December 2020

A cost-effectiveness analysis of prenatal carrier screening for cystic fibrosis.

1 reference

12 December 2020

Carrier screening for cystic fibrosis: costs and clinical outcomes

1 reference

12 December 2020

Cystic fibrosis in Finland: a molecular and genealogical study

1 reference

12 December 2020

Cystic fibrosis carrier population screening in the primary care setting

1 reference

12 December 2020

Correlation between genotype and phenotype in patients with cystic fibrosis

1 reference

12 December 2020

Standards and guidelines for CFTR mutation testing

1 reference

12 December 2020

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

1 reference

12 December 2020

Impact of recent pulmonary exacerbations on quality of life in patients with cystic fibrosis.

1 reference

12 December 2020

Carrier screening for cystic fibrosis: test acceptance and one year follow-up.

1 reference

12 December 2020

Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

1 reference

12 December 2020

Educating patients about cystic fibrosis carrier screening in a primary care setting

1 reference

12 December 2020

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

1 reference

12 December 2020

Second-trimester echogenic small bowel: an increased risk for adverse perinatal outcome

1 reference

12 December 2020

Genetic determination of exocrine pancreatic function in cystic fibrosis

1 reference

12 December 2020

Cystic fibrosis: selecting the prenatal screening strategy of choice.

1 reference

12 December 2020

Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T

1 reference

12 December 2020

The clinical significance of fetal echogenic bowel

1 reference

12 December 2020

CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations

1 reference

12 December 2020

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

1 reference

12 December 2020

Outpatient care of the cystic fibrosis patient after lung transplantation

1 reference

12 December 2020

Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening

1 reference

12 December 2020

Issues in implementing prenatal screening for cystic fibrosis: results of a working conference.

1 reference

12 December 2020

Why the term "carrier screening" should be abandoned

1 reference

12 December 2020

Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations

1 reference

12 December 2020

Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis

1 reference

12 December 2020

The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP.

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

Cystic fibrosis gene mutations do not affect sperm function during in vitro fertilization with micromanipulation for men with bilateral congenital absence of vas deferens.

1 reference

12 December 2020

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors

1 reference

12 December 2020

A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations

1 reference

12 December 2020

Cystic fibrosis heterozygote screening in 5,161 pregnant women

1 reference

12 December 2020

The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.

1 reference

12 December 2020

Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study

1 reference

12 December 2020

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

1 reference

12 December 2020

CFTR gene mutations in adults with disseminated bronchiectasis

1 reference

12 December 2020

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

12 December 2020

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

1 reference

12 December 2020

Prenatal screening for cystic fibrosis: an early report card

1 reference

12 December 2020

Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population

1 reference

12 December 2020

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

1 reference

12 December 2020

Barriers to carrier testing for adult cystic fibrosis sibs: the importance of not knowing

1 reference

12 December 2020

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

1 reference

12 December 2020

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

1 reference

12 December 2020

Is fetal hyperechoic bowel on second-trimester sonogram an indication for amniocentesis?

1 reference

12 December 2020

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

1 reference

12 December 2020

Determination of cystic fibrosis carrier frequency for Zuni native Americans of New Mexico

1 reference

12 December 2020

The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis

1 reference

12 December 2020

Active cascade testing for carriers of cystic fibrosis gene

1 reference

12 December 2020

Prenatal cystic fibrosis carrier screening: factors in a woman's decision to decline testing

1 reference

12 December 2020

'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations

1 reference

12 December 2020

Fertility in Males with Cystic Fibrosis

1 reference

12 December 2020

Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors

1 reference

12 December 2020

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

1 reference

12 December 2020

Pulmonary function during pregnancy in cystic fibrosis: implications for counseling

1 reference

12 December 2020

Identification of the cystic fibrosis gene: genetic analysis

1 reference

12 December 2020

Effect of family history on disclosure patterns of cystic fibrosis carrier status

1 reference

12 December 2020

Cystic Fibrosis Adult Care

1 reference

12 December 2020

Prediction of Mortality in Patients with Cystic Fibrosis

1 reference

12 December 2020

Prenatal genetic carrier testing using triple disease screening

1 reference

12 December 2020

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

1 reference

12 December 2020

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.

1 reference

12 December 2020

Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

1 reference

12 December 2020

Cystic fibrosis carrier screening: issues in implementation

1 reference

12 December 2020

Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities

1 reference

12 December 2020

Cystic fibrosis in a low-incidence population: two major mutations in Finland

1 reference

12 December 2020

Acceptance of home and clinic-based cystic fibrosis carrier education and testing by first, second, and third degree relatives of cystic fibrosis patients.

1 reference

12 December 2020

Screening for cystic fibrosis carrier state

1 reference

12 December 2020

Lung disease associated with the IVS8 5T allele of the CFTR gene

1 reference

12 December 2020

Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical implications of cystic fibrosis transmembrane conductance regulator mutations

1 reference

12 December 2020

Genotype and phenotype in cystic fibrosis

1 reference

12 December 2020

10.1007/S10897-005-1496-5

Identifiers

DOI

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release_xay6nfwf3rezlpev2wo6wzeoeu

12 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xay6nfwf3rezlpev2wo6wzeoeu

24 November 2022

mapped directly with Wikidata item

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