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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 19, 2024
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Records 1 - 21 (of 21 Records)
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Cystic Fibrosis[original query]>>Guidelines Related[Product Type]
Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.
Deanna M Green et al. Pediatrics 2024
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Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)
JL Deignan et al, Genetics in Medicine, June 13, 2023
Guidelines for Cystic Fibrosis Carrier Screening in the Prenatal/Preconception Period.
Hopkins Maeve K et al. Obstetrical & gynecological survey 2022 77(10) 606-610
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National Guidelines for the Performance of the Sweat Test in Diagnosis of Cystic Fibrosis on behalf of the Croatian Society of Medical Biochemistry and Laboratory Medicine and the Cystic Fibrosis Centre - Paediatrics and adults, University Hospital Centre Zagreb.
Lenicek Krleža Jasna et al. Biochemia medica 2022 32(1) 010501
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Genetic counseling access for parents of newborns who screen positive for cystic fibrosis: consensus guidelines.
Langfelder-Schwind Elinor et al. Pediatric pulmonology 2021
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Opportunity for pharmacogenomic testing in patients with cystic fibrosis.
Sakon Colleen et al. Pediatric pulmonology 2021
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Pregnancy in cystic fibrosis: Review of the literature and expert recommendations.
Jain Raksha et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2021
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Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Gregg Anthony R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
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Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID).
Barben Jürg et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Nov
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Position Statement on Direct to Consumer Genetic Testing
Royal College of General Practitioners, November 2019
Lung transplant referral for individuals with cystic fibrosis: Cystic Fibrosis Foundation consensus guidelines.
Ramos Kathleen J et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2019 May 18(3) 321-333
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Highlights from the nutrition guidelines for cystic fibrosis in Australia and New Zealand.
van der Haak Natalie et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2019 Jun
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ECFS best practice guidelines: the 2018 revision.
Castellani Carlo et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Mar
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Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
Sermet-Gaudelus I et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017 Nov
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Brazilian guidelines for the diagnosis and treatment of cystic fibrosis.
Athanazio Rodrigo Abensur et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 43(3) 219-245
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Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation.
Farrell Philip M et al. The Journal of pediatrics 2017 Feb 181SS4-S15.e1
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Diagnosis of Cystic Fibrosis in Screened Populations.
Farrell Philip M et al. The Journal of pediatrics 2017 Feb 181SS33-S44.e2
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Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obste´trique et gyne´cologie du Canada : JOGC 2016 Aug 38(8) 742-762.e3
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Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for ivacaftor therapy in the context of CFTR genotype.
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ACMG position statement on prenatal/preconception expanded carrier screening.
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Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 19, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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