Literature DB >> 9004147

First report of three cystic fibrosis patients homozygous for the 1717-1G-->A mutation.

R Padoan, A Giunta, M T Marzano, M Seia, V Raia, M Ferrari, L Cremonesi.   

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Year:  1996        PMID： 9004147      PMCID： PMC1050829          DOI： 10.1136/jmg.33.12.1052-b

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


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  11 in total

Review 1.  Gastrointestinal manifestations of cystic fibrosis.

Authors:  H Shwachman
Journal:  Pediatr Clin North Am       Date:  1975-11       Impact factor: 3.278

2.  A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis.

Authors:  L E GIBSON; R E COOKE
Journal:  Pediatrics       Date:  1959-03       Impact factor: 7.124

3.  A 3' splice site consensus sequence mutation in the cystic fibrosis gene.

Authors:  H Guillermit; P Fanen; C Ferec
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

4.  The systematic evaluation of the chest radiograph in cystic fibrosis.

Authors:  A R Chrispin; A P Norman
Journal:  Pediatr Radiol       Date:  1974

5.  The steatocrit: a simple method for estimating stool fat content in newborn infants.

Authors:  P Phuapradit; A Narang; P Mendonca; D A Harris; J D Baum
Journal:  Arch Dis Child       Date:  1981-09       Impact factor: 3.791

6.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

7.  CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

Authors:  N Morral; V Nunes; T Casals; X Estivill
Journal:  Genomics       Date:  1991-07       Impact factor: 5.736

Review 8.  The spectrum of cystic fibrosis mutations.

Authors:  L C Tsui
Journal:  Trends Genet       Date:  1992-11       Impact factor: 11.639

9.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

10.  Gastroesophageal reflux in patients with cystic fibrosis.

Authors:  R B Scott; E V O'Loughlin; D G Gall
Journal:  J Pediatr       Date:  1985-02       Impact factor: 4.406
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