Literature DB >> 8630481

Complexity in a monogenic disease.

X Estivill.   

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Year:  1996        PMID： 8630481     DOI： 10.1038/ng0496-348

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  9 in total

Review 1.  Genetics and pulmonary medicine. 1. The genetics of cystic fibrosis lung disease.

Authors:  D J Davidson; D J Porteous
Journal:  Thorax       Date:  1998-05       Impact factor: 9.139

2.  CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.

Authors:  C Castellani; A Bonizzato; G Mastella
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

3.  Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.

Authors:  Allison F McCague; Karen S Raraigh; Matthew J Pellicore; Emily F Davis-Marcisak; Taylor A Evans; Sangwoo T Han; Zhongzhou Lu; Anya T Joynt; Neeraj Sharma; Carlo Castellani; Joseph M Collaco; Mary Corey; Michelle H Lewis; Chris M Penland; Johanna M Rommens; Anne L Stephenson; Patrick R Sosnay; Garry R Cutting
Journal:  Am J Respir Crit Care Med       Date:  2019-05-01       Impact factor: 21.405

4.  Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.

Authors:  D C Rubinsztein; J Leggo; M Chiano; A Dodge; G Norbury; E Rosser; D Craufurd
Journal:  Proc Natl Acad Sci U S A       Date:  1997-04-15       Impact factor: 11.205

5.  Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Authors:  V Koprivica; D L Stone; J K Park; M Callahan; A Frisch; I J Cohen; N Tayebi; E Sidransky
Journal:  Am J Hum Genet       Date:  2000-05-04       Impact factor: 11.025

6.  Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.

Authors:  Rossella Giuliani; Ivana Antonucci; Isabella Torrente; Paola Grammatico; Giandomenico Palka; Liborio Stuppia
Journal:  Asian J Androl       Date:  2010-07-26       Impact factor: 3.285

7.  Cystic fibrosis transmembrane regulator (CFTR) DeltaF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. PANKRAS II Study Group.

Authors:  N Malats; T Casals; M Porta; L Guarner; X Estivill; F X Real
Journal:  Gut       Date:  2001-01       Impact factor: 23.059

8.  Diabetes and primary infertility in young males: do not forget cystic fibrosis.

Authors:  Partha Pratim Chakraborty; Sayantan Ray; Rana Bhattacharjee; Sujoy Ghosh; Pradip Mukhopadhyay; Satinath Mukhopadhyay; Subhankar Chowdhury
Journal:  Clin Diabetes       Date:  2015-04

9.  Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  Patrick R Sosnay; Karen R Siklosi; Fredrick Van Goor; Kyle Kaniecki; Haihui Yu; Neeraj Sharma; Anabela S Ramalho; Margarida D Amaral; Ruslan Dorfman; Julian Zielenski; David L Masica; Rachel Karchin; Linda Millen; Philip J Thomas; George P Patrinos; Mary Corey; Michelle H Lewis; Johanna M Rommens; Carlo Castellani; Christopher M Penland; Garry R Cutting
Journal:  Nat Genet       Date:  2013-08-25       Impact factor: 38.330
  9 in total

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