Found: 60
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Intussusception in adults with cystic fibrosis: a case series with review of the literature.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Complex two-gene modulation of lung disease severity in children with cystic fibrosis.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
- Published in:
- 2006
- By:
- Publication type:
- Correction Notice
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681
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- Publication type:
- Article
Mutations in SBDS are associated with Shwachman–Diamond syndrome.
- Published in:
- Nature Genetics, 2003, v. 33, n. 1, p. 97, doi. 10.1038/ng1062
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- Publication type:
- Article
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.
- Published in:
- Annals of the New York Academy of Sciences, 2011, v. 1242, n. 1, p. 40, doi. 10.1111/j.1749-6632.2011.06349.x
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- Publication type:
- Article
A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis Genetic modifier studies.
- Published in:
- Pediatric Pulmonology, 2011, v. 46, n. 9, p. 857, doi. 10.1002/ppul.21456
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- Publication type:
- Article
Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis.
- Published in:
- Pediatric Pulmonology, 2011, v. 46, n. 4, p. 385, doi. 10.1002/ppul.21372
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- Publication type:
- Article
Amiloride-insensitive nasal potential difference varies with the menstrual cycle in cystic fibrosis.
- Published in:
- Pediatric Pulmonology, 2007, v. 42, n. 6, p. 519, doi. 10.1002/ppul.20624
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- Publication type:
- Article
Reply to coates and bush.
- Published in:
- Pediatric Pulmonology, 2004, v. 37, n. 4, p. 382, doi. 10.1002/ppul.20000
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- Publication type:
- Article
Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Pancreatic Disorders and Cystic Fibrosis: Working Group Report of the First World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2002, v. 35, p. S213
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- Publication type:
- Article
Pathophysiologic basis of exocrine pancreatic dysfunction in childhood.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Factitious diarrhea: a case of watery deception.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Recommendations for Management of Liver and Biliary Tract Disease in Cystic Fibrosis.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 1999, v. 28, p. S1
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- Publication type:
- Article
Congenital cholesteatoma in a child carrying a gene mutation for adenomatous polyposis coli.
- Published in:
- 1999
- By:
- Publication type:
- journal article
A position paper of the North American Society for Pediatric Gastroenterology and Nutrition. Pediatric gastroenterology Workforce Survey and future supply and demand.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Gastroesophageal Reflux and Esophagitis-Associated Hypertrophic Osteoarthropathy.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 1996, v. 23, n. 2, p. 178
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- Publication type:
- Article
Shwachman-Diamond syndrome presenting as hepatosplenomegaly.
- Published in:
- 1994
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- Publication type:
- journal article
Message from the Presidents.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 1991, v. 12, n. 1, p. A9
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- Publication type:
- Article
Selective precipitation of 14 kDa stone/thread proteins by concentration of pancreaticobiliary secretions: relevance to pancreatic ductal obstruction, pancreatic failure, and CF.
- Published in:
- 1989
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- Publication type:
- journal article
Pancreatic Function Testing in Cystic Fibrosis.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 1984, v. 3, p. S89
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- Publication type:
- Article
Wilson's Disease. The Etiology, Clinical Aspects, and Treatment of Inherited Copper Toxicosis.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 1984, v. 3, n. 4, p. 644
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- Publication type:
- Article
Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities.
- Published in:
- Human Genetics, 2014, v. 133, n. 2, p. 151, doi. 10.1007/s00439-013-1363-7
- By:
- Publication type:
- Article
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis.
- Published in:
- Human Genetics, 2005, v. 118, n. 3/4, p. 372, doi. 10.1007/s00439-005-0059-z
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- Publication type:
- Article
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.
- Published in:
- Human Genetics, 2003, v. 113, n. 3, p. 286, doi. 10.1007/s00439-003-0963-z
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- Publication type:
- Article
Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 4, p. 250, doi. 10.1038/sj.ejhg.5200798
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- Publication type:
- Article
Vitamin K and the management of patients with cystic fibrosis.
- Published in:
- Canadian Medical Association Journal (CMAJ), 1994, v. 151, n. 7, p. 933
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- Publication type:
- Article
LETTERS TO THE EDITOR.
- Published in:
- Nutrition Reviews, 1989, v. 47, n. 1, p. 31, doi. 10.1111/j.1753-4887.1989.tb02750.x
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- Publication type:
- Article
β-Adrenergic Sweat Secretion as a Diagnostic Test for Cystic Fibrosis.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2012, v. 186, n. 8, p. 732, doi. 10.1164/rccm.201205-0922OC
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- Publication type:
- Article
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Mutations in the Cystic Fibrosis Transmembrane Regulator Gene and In Vivo Transepithelial Potentials.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 7, p. 787, doi. 10.1164/rccm.200509-1377OC
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- Publication type:
- Article
Cystic Fibrosis Transmembrane Conductance Regulator Function Is Suppressed in Cigarette Smokers.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2006, v. 173, n. 10, p. 1139, doi. 10.1164/rccm.200508-1330OC
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- Publication type:
- Article
Airway Inflammation and Infection in Congenital Bilateral Absence of the Vas Deferens.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2004, v. 169, n. 2, p. 1, doi. 10.1164/rccm.200304-558oc
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- Publication type:
- Article
Genetics and genetic diagnosis. Cystic fibrosis gene mutations and infertile men with primary testicular failure.
- Published in:
- Human Reproduction, 2000, v. 15, n. 2, p. 436, doi. 10.1093/humrep/15.2.436
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- Publication type:
- Article
Risk Factors Associated With Pediatric Acute Recurrent and Chronic Pancreatitis.
- Published in:
- JAMA Pediatrics, 2016, v. 170, n. 6, p. 562, doi. 10.1001/jamapediatrics.2015.4955
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- Publication type:
- Article
Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.
- Published in:
- 2019
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- Publication type:
- journal article
Prevalence of oral diseases in Shwachman-Diamond syndrome.
- Published in:
- Special Care in Dentistry, 2007, v. 27, n. 2, p. 52, doi. 10.1111/j.1754-4505.2007.tb00328.x
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- Publication type:
- Article
Direct Costs of Acute Recurrent and Chronic Pancreatitis in Children in the INSPPIRE Registry.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Design and implementation of INSPPIRE.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Definitions of pediatric pancreatitis and survey of present clinical practices.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Immune function in patients with Shwachman–Diamond syndrome.
- Published in:
- British Journal of Haematology, 2001, v. 114, n. 3, p. 712, doi. 10.1046/j.1365-2141.2001.02996.x
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- Publication type:
- Article
Breast cancer in a case of Shwachman Diamond syndrome.
- Published in:
- Pediatric Blood & Cancer, 2012, v. 59, n. 5, p. 945, doi. 10.1002/pbc.24052
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- Publication type:
- Article
Pathology of pancreatic and intestinal disorders in cystic fibrosis.
- Published in:
- Journal of the Royal Society of Medicine (Supplement), 1998, v. 91, n. 34, p. 40, doi. 10.1177/014107689809134S07
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- Publication type:
- Article
Uses and abuses of enzyme therapy in cystic fibrosis.
- Published in:
- Journal of the Royal Society of Medicine (Supplement), 1998, v. 91, n. 34, p. 2, doi. 10.1177/014107689809134S02
- By:
- Publication type:
- Article
In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.pgen.1005288
- By:
- Publication type:
- Article
Variation in MSRA Modifies Risk of Neonatal Intestinal Obstruction in Cystic Fibrosis.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 3, p. 1, doi. 10.1371/journal.pgen.1002580
- By:
- Publication type:
- Article
Does Integration of Various Ion Channel Measurements Improve Diagnostic Performance in Cystic Fibrosis?
- Published in:
- Annals of the American Thoracic Society, 2014, v. 11, n. 4, p. 562, doi. 10.1513/AnnalsATS.201311-412OC
- By:
- Publication type:
- Article
Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibrosis population.
- Published in:
- PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205257
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- Publication type:
- Article