Literature DB >> 15857421

Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis.

N Derichs, A Schuster, I Grund, A Ernsting, C Stolpe, S Körtge-Jung, S Gallati, M Stuhrmann, P Kozlowski, M Ballmann.   

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Year:  2005        PMID： 15857421     DOI： 10.1111/j.1399-0004.2005.00437.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates.

Authors:  Valentina Paracchini; Manuela Seia; Sara Raimondi; Lucy Costantino; Patrizia Capasso; Luigi Porcaro; Carla Colombo; Domenico A Coviello; Tiziana Mariani; Emanuela Manzoni; Monica Sangiovanni; Carlo Corbetta
Journal:  JIMD Rep       Date:  2011-11-04

2.  Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.

Authors:  Danieli Barino Salinas; Patrick R Sosnay; Colleen Azen; Suzanne Young; Karen S Raraigh; Thomas G Keens; Martin Kharrazi
Journal:  J Cyst Fibros       Date:  2015-03-29       Impact factor: 5.482

3.  Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Authors:  Sevcan Tug Bozdogan; Cem Mujde; Ibrahim Boga; Ozge Sonmezler; Abdullah Hanta; Cagla Rencuzogullari; Dilek Ozcan; Derya Ufuk Altintas; Atil Bisgin
Journal:  Genes (Basel)       Date:  2021-01-31       Impact factor: 4.096

4.  Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report.

Authors:  Tinatin Tkemaladze; Eka Kvaratskhelia; Mariam Ghughunishvili; Michael J Lentze; Elene Abzianidze; Volha Skrahina; Arndt Rolfs
Journal:  Respir Med Case Rep       Date:  2022-10-05

5.  Cystic fibrosis presenting as recurrent pancreatitis in a young child with a normal sweat test and pancreas divisum: a case report.

Authors:  Laurie Conklin; Pamela L Zeitlin; Carmen Cuffari
Journal:  J Med Case Rep       Date:  2008-05-23
  5 in total

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