The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
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E. Génin | C. Clavel | S. Leroy | C. Bonithon-Kopp | M. Claustres | C. Férec | L. Faivre | M. Morris | B. Gérard | C. Thauvin-Robinet | A. Clément | G. Bellon | I. Sermet-Gaudelus | M. Audrézet | E. Girodon | A. Munck | T. Bienvenu | E. Bieth | G. Bellis | P. Boisseau | M. Goossens | C. Binquet | F. Huet | H. Corvol | E. Houssin | M. Roussey | E. Gautier | B. Simon‐Bouy | M. D. Georges | G. Rault | D. Feldmann | A. Iron | D. Hubert | R. Nove-Josserand | G. Lalau | F. Cabet-Bey | C. Costa | R. Médina | J. Leclerc | J. Flori | N. Wizla | A. Haloun | S. Perez-Martin | G. D'acremont | C. Alberti-Boulme | E. Genin | C. Bonithon‐Kopp | Georges
[1] Erin Rothwell,et al. Newborn Screening , 2011, Annual Review of Nursing Research.
[2] A. Munck,et al. Implementation of the French nationwide cystic fibrosis newborn screening program. , 2008, The Journal of pediatrics.
[3] Vicky A Legrys,et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. , 2008, The Journal of pediatrics.
[4] B. Kerem,et al. Consensus on the Use and Interpretation of Cystic Fibrosis Mutation Analysis in Clinical Practice , 2022 .
[5] 卢杰,et al. Cystic fibrosis , 2007 .
[6] C. Férec,et al. Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations , 2007, Journal of Inherited Metabolic Disease.
[7] E. Girodon,et al. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. , 2007, Human reproduction.
[8] C. Ren. Pulmonary Manifestations in ΔF508/R117H , 2007, Pediatrics.
[9] I. Sermet-Gaudelus,et al. Nasal potential difference in cystic fibrosis diagnosis of very young children. , 2007, The Journal of pediatrics.
[10] C. Castellani,et al. A survey of newborn screening for cystic fibrosis in Europe. , 2007, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[11] C. Férec,et al. Immunoreactive Trypsin/DNA Newborn Screening for Cystic Fibrosis: Should the R117H Variant Be Included in CFTR Mutation Panels? , 2006, Pediatrics.
[12] P. Reix,et al. The CF-CIRC study: a French collaborative study to assess the accuracy of Cystic Fibrosis diagnosis in neonatal screening , 2006, BMC pediatrics.
[13] R. Parad,et al. Early Pulmonary Manifestation of Cystic Fibrosis in Children With the ΔF508/R117H-7T Genotype , 2006, Pediatrics.
[14] A. Dalton,et al. Pulmonary infection in mild variant cystic fibrosis: implications for care. , 2006, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[15] K. Webb,et al. Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8. , 2006, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[16] L. Curnow,et al. Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing , 2005, Archives of Disease in Childhood.
[17] C. Scriver,et al. The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.
[18] K. Southern,et al. Newborn screening programmes for cystic fibrosis. , 2003, Paediatric respiratory reviews.
[19] L. Curnow,et al. Genetic counselling after carrier detection by newborn screening when one parent carries ΔF508 and the other R117H , 2003, Archives of disease in childhood.
[20] U. Wahn,et al. Sequential genotyping of Pseudomonas aeruginosa from upper and lower airways of cystic fibrosis patients , 2002, European Respiratory Journal.
[21] H. Blum,et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis , 2001, American Journal of Gastroenterology.
[22] J. Goldblatt,et al. Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. , 2001, The European respiratory journal.
[23] C. Clavel,et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France , 2000, Human mutation.
[24] A. Dalton,et al. Many deltaF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation. , 2000, Journal of medical genetics.
[25] C. Robertson,et al. Newborn screening for cystic fibrosis in Victoria: 10 years' experience (1989‐1998) , 2000, The Medical journal of Australia.
[26] J. Zieleński. Genotype and Phenotype in Cystic Fibrosis , 2000, Respiration.
[27] M. Knowles,et al. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. , 1998, The New England journal of medicine.
[28] G. Cutting,et al. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. , 1998, The Journal of pediatrics.
[29] B. Housset,et al. CFTR Gene Mutations in Adults with Disseminated Bronchiectasis , 1997, European journal of human genetics : EJHG.
[30] B. Blumberg,et al. Cystic fibrosis heterozygote screening in 5,161 pregnant women. , 1996, American journal of human genetics.
[31] M Claustres,et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. , 1995, The New England journal of medicine.
[32] P. Pignatti,et al. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. , 1995, Human molecular genetics.
[33] B. Wilcken. Reviews and Notes: Genetics: The Metabolic and Molecular Bases of Inherited Disease , 1995, Annals of Internal Medicine.
[34] E. Girodon,et al. Frequent Occurrence of the CFTR Intron 8 (TG)n 5T Allele in Men with Congenital Bilateral Absence of the Vas Deferens , 1995, European journal of human genetics : EJHG.
[35] L. Tsui,et al. A mutation in CFTR produces different phenotypes depending on chromosomal background , 1993, Nature Genetics.
[36] M. Welsh,et al. Mutations in CFTR associated with mild-disease-form CI- channels with altered pore properties , 1993, Nature.
[37] J. Lafitte,et al. High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. , 1993, The New England journal of medicine.
[38] A. Maseri. Integration of cellular and molecular biology with clinical research in cardiology. , 1993, The New England journal of medicine.
[39] M. Leppert,et al. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients , 1990, Cell.