[HTML][HTML] Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders
SM Moskowitz, JF Chmiel, DL Sternen, E Cheng… - Genetics in …, 2008 - Elsevier
Cystic fibrosis transmembrane conductance regulator-related disorders encompass a
disease spectrum from focal male reproductive tract involvement in congenital absence of …
disease spectrum from focal male reproductive tract involvement in congenital absence of …
Recommendations for the classification of diseases as CFTR-related disorders
C Bombieri, M Claustres, K De Boeck, N Derichs… - Journal of Cystic …, 2011 - Elsevier
Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a
consensus definition is lacking. Here, we present a proposal for consensus guidelines on …
consensus definition is lacking. Here, we present a proposal for consensus guidelines on …
Clinical molecular diagnosis of Wilson disease
J Bennett, SH Hahn - Seminars in liver disease, 2011 - thieme-connect.com
Wilson disease is an autosomal recessive disorder of copper transport characterized by
toxic accumulation of copper in the liver, brain, and other organs. It is lethal if untreated, but …
toxic accumulation of copper in the liver, brain, and other organs. It is lethal if untreated, but …
[HTML][HTML] CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
JL Deignan, C Astbury, GR Cutting, D Del Gaudio… - Genetics in …, 2020 - Elsevier
Pathogenic variants in the CFTR gene are causative of classic cystic fibrosis (CF) as well as
some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal …
some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal …
Measurements of CFTR-Mediated Cl− Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis
M Sousa, MF Servidoni, AM Vinagre, AS Ramalho… - 2012 - journals.plos.org
Background Cystic Fibrosis (CF) is caused by∼ 1,900 mutations in the CF transmembrane
conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl−) channel …
conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl−) channel …
[HTML][HTML] A new targeted CFTR mutation panel based on next-generation sequencing technology
M Lucarelli, L Porcaro, A Biffignandi… - The Journal of Molecular …, 2017 - Elsevier
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene
(CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis …
(CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis …
[HTML][HTML] Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis
CM Strom, B Crossley, A Buller-Buerkle, M Jarvis… - Genetics in …, 2011 - Elsevier
Purpose This study reviews data from our cystic fibrosis testing program to evaluate the
performance of population-based carrier screening and compare observed detection rates …
performance of population-based carrier screening and compare observed detection rates …
Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length
DB Salinas, C Azen, S Young, TG Keens… - Genetic testing and …, 2016 - liebertpub.com
Background: At the cystic fibrosis transmembrane conductance regulator (CFTR) gene
(IVS8)-(TG) m (T) n locus, a lower number of thymidines (legacy names 9T vs. 7T vs. 5T) and …
(IVS8)-(TG) m (T) n locus, a lower number of thymidines (legacy names 9T vs. 7T vs. 5T) and …
[HTML][HTML] Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review
SJM Kessels, D Carter, B Ellery, S Newton… - Genetics in Medicine, 2020 - Elsevier
Purpose We aimed to assess the clinical value of prenatal testing for cystic fibrosis (CF) and
whether ethical considerations would affect endpoint selection. Methods To determine …
whether ethical considerations would affect endpoint selection. Methods To determine …
[HTML][HTML] The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening
P Stafler, M Mei-Zahav, M Wilschanski, H Mussaffi… - Journal of Cystic …, 2016 - Elsevier
Background Population carrier screening (PCS) has been available in Israel since 1999 and
universally subsidized since 2008. We sought to evaluate its impact. Methods A …
universally subsidized since 2008. We sought to evaluate its impact. Methods A …