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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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Oral Butyrate in Treatment of Congenital Chloride Diarrhea

The American journal of gastroenterology, 2008-01, Vol.103 (1), p.252-254

2008

Volltextzugriff (PDF)

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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The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

Histochemistry and cell biology, 2000-04, Vol.113 (4), p.279-286

2000

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SLC26A3 mutations in congenital chloride diarrhea

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

2002

Volltextzugriff (PDF)

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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Genomic structure of the human congenital chloride diarrhea (CLD) gene

Gene, 1998-07, Vol.214 (1), p.87-93

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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Mutations of the Down-regulated in adenoma ( DRA ) gene cause congenital chloride diarrhoea

Nature genetics, 1996-11, Vol.14 (3), p.316-319

1996

Volltextzugriff (PDF)

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

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

1998

Volltextzugriff (PDF)

SLC26A3 mutations in congenital chloride diarrhea: SLC26A3 MUTATIONS IN CLD

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

2002

Volltextzugriff (PDF)

Inherited disorders of ion transport in the intestine

Current Opinion in Genetics & Development, 2000-06, Vol.10 (3), p.306-309

2000

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

SLC26A3 and congenital chloride diarrhoea

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

2006

Volltextzugriff (PDF)

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

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

1998

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Acute symptomatic seizures and epilepsy after mechanical thrombectomy

Epilepsy & behavior, 2020-03, Vol.104 (Pt B), p.106520-106520, Article 106520

2020

Volltextzugriff (PDF)

Prediction of Outcome After Endovascular Embolectomy in Anterior Circulation Stroke Using Biomarkers

Translational stroke research, 2022-02, Vol.13 (1), p.65-76

2022

Volltextzugriff (PDF)

Public value accounting and the use of performance measurements as a management tool in a context of various assessments

Journal of accounting & organizational change, 2023-10, Vol.19 (4), p.603-621

2023

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Vedolizumab as first-line biological therapy in elderly patients and those with contraindications for anti-TNF therapy: a real-world, nationwide cohort of patients with inflammatory bowel diseases

Scandinavian journal of gastroenterology, 2021-09, Vol.56 (9), p.1040-1048

2021

Volltextzugriff (PDF)

Measurement of α- and β-secretase cleaved amyloid precursor protein in cerebrospinal fluid from Alzheimer patients

Experimental neurology, 2003-09, Vol.183 (1), p.74-80

2003

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Update on SLC26A3 mutations in congenital chloride diarrhea

Oral Butyrate in Treatment of Congenital Chloride Diarrhea

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

The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

SLC26A3 mutations in congenital chloride diarrhea

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

Genomic structure of the human congenital chloride diarrhea (CLD) gene

SLC26A3 and congenital chloride diarrhoea

Mutations of the Down-regulated in adenoma ( DRA ) gene cause congenital chloride diarrhoea

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

SLC26A3 mutations in congenital chloride diarrhea: SLC26A3 MUTATIONS IN CLD

Inherited disorders of ion transport in the intestine

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

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

SLC26A3 and congenital chloride diarrhoea

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

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

Acute symptomatic seizures and epilepsy after mechanical thrombectomy

Prediction of Outcome After Endovascular Embolectomy in Anterior Circulation Stroke Using Biomarkers

Public value accounting and the use of performance measurements as a management tool in a context of various assessments

Vedolizumab as first-line biological therapy in elderly patients and those with contraindications for anti-TNF therapy: a real-world, nationwide cohort of patients with inflammatory bowel diseases

Measurement of α- and β-secretase cleaved amyloid precursor protein in cerebrospinal fluid from Alzheimer patients

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