Impaired chloride secretion, as well as bicarbonate secretion, underlies the fluid secretory defect in the cystic fibrosis pancreas

Hinda Kopelman, Mary Corey, Kevin Gaskin, +3

Gastroenterology

Impaired Chloride SecretionPancreatic Fluid CollectionPhysiologyGastroenterologyPathology +4

Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

Hedy Ginzberg, Janey Shin, Lynda Ellis, +9

The Journal of Pediatrics

Isolated CasesPhenotypic ManifestationsMendelian DisorderGenetic DisorderShwachman Syndrome +4

Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations

Michael Wilschanski, Julian Zielenski, D. Markiewicz, +4

The Journal of Pediatrics

Molecular PhysiologyMembrane TransportPhysiologyMolecular BiologyMedicine +2

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

Lei Sun, Johanna M. Rommens, Harriet Corvol, +26

Nature Genetics

PhysiologyGastroenterologyPathologyGastrointestinal PathologyDigestive Tract +2

Pancreatitis in patients with organic acidemias

Stephen G. Kahler, W. G. Sherwood, D. Woolf, +7

The Journal of Pediatrics

Organic AcidemiasGastroenterologyPancreatic Fluid Collection

Familial concordance of pancreatic function in cystic fibrosis

Mary Corey, Peter Durie, David Moore, +2

The Journal of Pediatrics

Pancreatic Fluid CollectionHistopathologyGastroenterologyPathologyMedicine +1

Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations

Keith Jarvi, Stewart W. McCallum, Julian Zielenski, +9

Fertility and Sterility

InfertilityMendelian DisorderFertilityGenetic DisorderGenetics +9

Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis

Melissa Miller, David Soave, Weili Li, +14

The Journal of Pediatrics

Molecular PhysiologyPathologyMedicineCell BiologyCell Signaling

Increased Vitamin A and E Levels in Adult Cystic Fibrosis Patients after Lung Transplantation

Anne L. Stephenson, Michelle Brotherwood, Ronalee Robert, +5

Transplantation

Lung TransplantationNormal Serum LevelsFibrosisTransplantationHepatology +7

Duplication of distal thumb phalanx in Shwachman-Diamond syndrome

Yigal Dror, Peter Durie, P Marcon, +1

American Journal of Medical Genetics

Thumb HypoplasiaBone Marrow FailureMedicinePathologyShwachman-diamond Syndrome +5