Congenital Diarrheal Disorders: An Updated Diagnostic Approach

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

(2011) Gianfranco Sebastio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3

(2011) O. Rubio-Cabezas et al.   DIABETES

An overview of hereditary pancreatitis

(2011) Vinciane Rebours et al.   DIGESTIVE AND LIVER DISEASE

Update on SLC26A3 mutations in congenital chloride diarrhea

(2011) Satu Wedenoja et al.   HUMAN MUTATION

Neonatal Diabetes and Congenital Malabsorptive Diarrhea Attributable to a Novel Mutation in the Human Neurogenin-3 Gene Coding Sequence

(2011) Sara E. Pinney et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Extensive Molecular Analysis of Patients Bearing CFTR-Related Disorders

(2011) Felice Amato et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Intestinal fructose transport and malabsorption in humans

(2010) Hilary F. Jones et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Molecular diagnostics: between chips and customized medicine

(2010) Giuseppe Castaldo et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Genetic control of the inflammatory T-cell response in regulatory T-cell deficient scurfy mice

(2010) Rahul Sharma et al.   CLINICAL IMMUNOLOGY

Tufting Enteropathy with EpCAM Mutations in Two Siblings

(2010) Jae Sung Ko et al.   Gut and Liver

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model

(2010) Frank M. Ruemmele et al.   HUMAN MUTATION

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome

(2010) Alexandre Fabre et al.   HUMAN MUTATION

Autoimmune polyglandular syndromes

(2010) Aaron W. Michels et al.   Nature Reviews Endocrinology

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome

(2010) Radu Harbuz et al.   PRENATAL DIAGNOSIS

Diarrhea in neonatal intensive care unit

(2010) Annalisa Passariello   WORLD JOURNAL OF GASTROENTEROLOGY

Review article: the clinical management of congenital chloride diarrhoea

(2009) S. WEDENOJA et al.   ALIMENTARY PHARMACOLOGY & THERAPEUTICS

From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome

(2009) A. Blanco Quirós et al.   ALLERGOLOGIA ET IMMUNOPATHOLOGIA

Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

(2009) Peter Heinz-Erian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GLUT2 mutations, translocation, and receptor function in diet sugar managing

(2009) Armelle Leturque et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Three Novel CFTR Polymorphic Repeats Improve Segregation Analysis for Cystic Fibrosis

(2009) A. Elce et al.   CLINICAL CHEMISTRY

Novel and recurrent mutations in theAIREgene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients

(2009) M Faiyaz-Ul-Haque et al.   CLINICAL GENETICS

Shwachman-Diamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis, and Treatment

(2009) Lauri Burroughs et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

An update on mutations of theSLC39A4gene in acrodermatitis enteropathica

(2009) Sébastien Schmitt et al.   HUMAN MUTATION

Nonsynonymous Mutations withinAPOBin Human Familial Hypobetalipoproteinemia

(2009) Shumei Zhong et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autoimmune enteropathy in children and adults

(2009) Massimo Montalto et al.   SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

(2008) Elina Rantanen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

(2008) R. Tomaiuolo et al.   Journal of Cystic Fibrosis