Literature DB >> 1690328

Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency.

M Stuhrmann, M Macek, A Reis, J Schmidtke, B Tümmler, T Dörk, V Vavrova, M Macek, M Krawczak.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 1690328     DOI： 10.1016/0140-6736(90)90862-y

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


× No keyword cloud information.
  8 in total

Review 1.  Proteases, cystic fibrosis and the epithelial sodium channel (ENaC).

Authors:  P H Thibodeau; M B Butterworth
Journal:  Cell Tissue Res       Date:  2012-05-22       Impact factor: 5.249

2.  CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.

Authors:  K Will; J Reiss; M Dean; M Schlösser; R Slomski; J Schmidtke; M Stuhrmann
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

Review 3.  Early and late outcome of cystic fibrosis screening.

Authors:  M R Green; L T Weaver
Journal:  J R Soc Med       Date:  1994       Impact factor: 5.344

4.  Pancreatic function and gene deletion F508 in cystic fibrosis.

Authors:  G Borgo; G Mastella; P Gasparini; A Zorzanello; R Doro; P F Pignatti
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

5.  A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.

Authors:  T Dörk; N Kälin; M Stuhrmann; J Schmidtke; B Tümmler
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

6.  Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study.

Authors:  G Borgo; P Gasparini; A Bonizzato; G Cabrini; G Mastella; P F Pignatti
Journal:  Eur J Pediatr       Date:  1993-12       Impact factor: 3.183

7.  Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.

Authors:  M R Green; L T Weaver; A F Heeley; K Nicholson; J A Kuzemko; D E Barton; R McMahon; S J Payne; S Austin; J R Yates
Journal:  Arch Dis Child       Date:  1993-04       Impact factor: 3.791

8.  Short and long term outcomes associated with fetal cholelithiasis: a report of two cases with antenatal diagnosis and postnatal follow-up.

Authors:  Juan Troyano-Luque; Ana Padilla-Pérez; Ingrid Martínez-Wallin; Margarita Alvarez de la Rosa; Salvatore Andrea Mastrolia; José Luis Trujillo; Tirso Pérez-Medina
Journal:  Case Rep Obstet Gynecol       Date:  2014-09-30
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.