Literature DB >> 11303517

Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test.

C Castellani, M G Benetazzo, A Tamanini, A Begnini, G Mastella.   

Abstract

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Year:  2001        PMID： 11303517      PMCID： PMC1734837          DOI： 10.1136/jmg.38.3.202

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Prenatal screening of Cystic Fibrosis: a single centre experience.

Authors:  Domenico Bizzoco; Alvaro Mesoraca; Antonella Cima; Monica Sarti; Gianluca Di Giacomo; Giovanna Scerra; Maria Antonietta Barone; Manuela Di Natale; Ivan Gabrielli; Caterina Tamburino; Claudia Scargiali; Cristina Ernandez; Maria Pia D'Aleo; Michele Todini; Rita Pompili; Luisa Mobili; Lucia Mangiafico; Ornella Carcioppolo; Claudio Coco; Pietro Cignini; Laura D'Emidio; Alessandra Girgenti; Cristiana Brizzi; Alessandro Cavaliere; Claudio Giorlandino
Journal:  J Prenat Med       Date:  2008-01

2.  p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.

Authors:  Céline René; Damien Paulet; Emmanuelle Girodon; Catherine Costa; Guy Lalau; Julie Leclerc; Faïza Cabet-Bey; Thierry Bienvenu; Martine Blayau; Albert Iron; Hervé Mittre; Delphine Feldmann; Caroline Guittard; Mireille Claustres; Marie des Georges
Journal:  Eur J Hum Genet       Date:  2010-08-18       Impact factor: 4.246

Review 3.  Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Authors:  D A S de Souza; F R Faucz; L Pereira-Ferrari; V S Sotomaior; S Raskin
Journal:  Andrology       Date:  2017-12-07       Impact factor: 3.842

4.  Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children.

Authors:  Katarina Milosevic; Aleksandra Nikolic; Aleksandra Divac Rankov; Mila Ljujic; Branimir Nestorovic; Dragica Radojkovic
Journal:  Pediatr Allergy Immunol Pulmonol       Date:  2013-06       Impact factor: 1.349

5.  The CF-CIRC study: a French collaborative study to assess the accuracy of cystic fibrosis diagnosis in neonatal screening.

Authors:  Isabelle Sermet-Gaudelus; Delphine Roussel; Stéphanie Bui; Eric Deneuville; Frédéric Huet; Philippe Reix; Gabriel Bellon; Gérard Lenoir; Aleksander Edelman
Journal:  BMC Pediatr       Date:  2006-10-03       Impact factor: 2.125
  5 in total

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