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Update on SLC26A3 mutations in congenital chloride diarrhea

Human mutation, 2011-07, Vol.32 (7), p.715-722

2011

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Expression of ion transport-associated proteins in human efferent and epididymal ducts

Reproduction (Cambridge, England), 2007-04, Vol.133 (4), p.775-784

2007

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Cl-Is Required for HCO3-Entry Necessary for Sperm Capacitation in Guinea Pig : Involvement of a Cl-/HCO3-Exchanger (SLC26A3) and CFTR

Biology of reproduction, 2009, Vol.80 (1), p.115-123

2009

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Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation

Acta Paediatrica, 2012-06, Vol.101 (6), p.e256-e259

2012

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Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea

American journal of physiology: Gastrointestinal and liver physiology, 1999-01, Vol.276 (1), p.G185-G192

1999

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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Genetics in medicine, 2005-09, Vol.7 (7), p.479-483

2005

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Cl− Is Required for HCO3− Entry Necessary for Sperm Capacitation in Guinea Pig: Involvement of a Cl−/HCO3− Exchanger (SLC26A3) and CFTR1

Biology of reproduction, 2009-01, Vol.80 (1), p.115-123

2009

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Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability

Turkish journal of pediatrics, 2011-03, Vol.53 (2), p.194-198

2011

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SLC26A3 mutations in congenital chloride diarrhea

Human mutation, 2002-12, Vol.20 (6), p.425-438

2002

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Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene

Oncogene, 1998-02, Vol.16 (5), p.681-684

1998

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SLC26A3 and congenital chloride diarrhoea

Novartis Foundation symposium, 2006, Vol.273, p.74

Höglund, Pia

2006

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Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea

The American journal of physiology, 1999-01, Vol.276 (1), p.G7

1999

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A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

Nature (London), 1998-01, Vol.391 (6663), p.184-187

1998

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SLC26A3 mutations in congenital chloride diarrhea: SLC26A3 MUTATIONS IN CLD

Human mutation, 2002-12, Vol.20 (6), p.425-438

2002

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Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

Human mutation, 2001-09, Vol.18 (3), p.233-242

2001

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Molecular characterization of deletion at 11q22.1‐23.3 in mantle cell lymphoma

British journal of haematology, 1999-03, Vol.104 (4), p.665-671

1999

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Interstitial 1q25.3‐q31.3 deletion in a boy with mild manifestations

American journal of medical genetics, 2003-12, Vol.123A (3), p.290-295

2003

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III. Congenital chloride diarrhea

American journal of physiology: Gastrointestinal and liver physiology, 1999-01, Vol.276 (1), p.G7-G13

1999

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Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

Human mutation, 1998, Vol.11 (4), p.321-327

1998

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Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31

Genome research, 1996-03, Vol.6 (3), p.202

1996

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SLC26A3 and congenital chloride diarrhoea

Epithelial Anion Transport in Health and Disease, 2006, Vol.273, p.74-90

2006

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Genetic disorders of membrane transport. III. Congenital chloride diarrhea

American journal of physiology: Gastrointestinal and liver physiology, 1999, Vol.39 (1), p.G7-G13

1999

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Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations

American Journal of Medical Genetics Part A, 2003, Vol.123A (3), p.290-295

2003

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Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea

American journal of physiology: Gastrointestinal and liver physiology, 1999, Vol.39 (1), p.G185-G192

1999

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A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

Nature (London), 1998-01, Vol.391 (2), p.184

1998

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Update on SLC26A3 mutations in congenital chloride diarrhea

Expression of ion transport-associated proteins in human efferent and epididymal ducts

Cl-Is Required for HCO3-Entry Necessary for Sperm Capacitation in Guinea Pig : Involvement of a Cl-/HCO3-Exchanger (SLC26A3) and CFTR

Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation

Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Cl− Is Required for HCO3− Entry Necessary for Sperm Capacitation in Guinea Pig: Involvement of a Cl−/HCO3− Exchanger (SLC26A3) and CFTR1

Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability

SLC26A3 mutations in congenital chloride diarrhea

Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene

SLC26A3 and congenital chloride diarrhoea

Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea

A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

SLC26A3 mutations in congenital chloride diarrhea: SLC26A3 MUTATIONS IN CLD

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

Molecular characterization of deletion at 11q22.1‐23.3 in mantle cell lymphoma

Interstitial 1q25.3‐q31.3 deletion in a boy with mild manifestations

III. Congenital chloride diarrhea

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31

SLC26A3 and congenital chloride diarrhoea

Genetic disorders of membrane transport. III. Congenital chloride diarrhea

Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations

Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

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