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BMJ Journals
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topic
Journal of Medical Genetics
CLINICAL
Respiratory medicine
Cystic fibrosis
Email alerts
Cystic fibrosis
Mutations in the pancreatic secretory trypsin inhibitor gene (
PSTI
/
SPINK1
) rather than the cationic trypsinogen gene (
PRSS1
) are significantly associated with tropical calcific pancreatitis
G R
Chandak
,
M M
Idris
,
D N
Reddy
,
S
Bhaskar
,
P V J
Sriram
,
L
Singh
Journal of Medical Genetics
May 2002,
39
(5)
347-351;
DOI:
10.1136/jmg.39.5.347
Preconceptional couple screening for cystic fibrosis carrier status: couples prefer full disclosure of test results
L
Henneman
,
L P
ten Kate
Journal of Medical Genetics
May 2002,
39
(5)
e26;
DOI:
10.1136/jmg.39.5.e26
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (
GJB2
) gene
Myrna
Mustapha
,
Nabiha
Salem
,
Valérie
Delague
,
Eliane
Chouery
,
Michella
Ghassibeh
,
Myriam
Rai
,
Jacques
Loiselet
,
Christine
Petit
,
André
Mégarbané
Journal of Medical Genetics
Oct 2001,
38
(10)
e36;
DOI:
10.1136/jmg.38.10.e36
The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis
M
Gabolde
,
D
Hubert
,
M
Guilloud-Bataille
,
C
Lenaerts
,
J
Feingold
,
C
Besmond
Journal of Medical Genetics
May 2001,
38
(5)
310-311;
DOI:
10.1136/jmg.38.5.310
No evidence for mosaicism in Silver-Russell syndrome
DAVID
MONK
,
MEGAN
HITCHINS
,
SILVIA
RUSSO
,
MICHAEL
PREECE
,
PHILIP
STANIER
,
GUDRUN E
MOORE
Journal of Medical Genetics
Apr 2001,
38
(4)
e11;
DOI:
10.1136/jmg.38.4.e11
A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family
NICOLE
MONNIER
,
JEAN-PIERRE
GOUT
,
ISABELLE
PIN
,
GENEVIÈVE
GAUTHIER
,
JOEL
LUNARDI
Journal of Medical Genetics
Jan 2001,
38
(1)
e4;
DOI:
10.1136/jmg.38.1.e4
Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex
CFTR
allele
MARC J
ABRAMOWICZ
,
BARBARA
DESSARS
,
CLAUDE
SEVENS
,
MICHEL
GOOSSENS
,
EMMANUELLE GIRODON
BOULANDET
Journal of Medical Genetics
Aug 2000,
37
(8)
e15;
DOI:
10.1136/jmg.37.8.e15
Distribution of
CFTR
gene mutations in cystic fibrosis patients from Estonia
MARIS
TEDER
,
TIINA
KLAASSEN
,
ENELI
OITMAA
,
KRISTA
KAASIK
,
ANDRES
METSPALU
Journal of Medical Genetics
Aug 2000,
37
(8)
e16;
DOI:
10.1136/jmg.37.8.e16
Cystic fibrosis carrier frequencies in populations of African origin
Carolyn
Padoa
,
Andrea
Goldman
,
Trefor
Jenkins
,
Michele
Ramsay
Journal of Medical Genetics
Jan 1999,
36
(1)
41-44;
DOI:
10.1136/jmg.36.1.41
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