Publications by authors named "Peter Itin"

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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Mol Genet Genomic Med 2016 May 24;4(3):359-66. Epub 2016 Feb 24.
Division of Human GeneticsDepartment of PaediatricsInselspitalUniversity of BernCH-3010BernSwitzerland; Department of Clinical ResearchUniversity of BernCH-3010BernSwitzerland.

Phase II metabolism in human skin: skin explants show full coverage for glucuronidation, sulfation, N-acetylation, catechol methylation, and glutathione conjugation.
Drug Metab Dispos 2015 Jan 22;43(1):126-39. Epub 2014 Oct 22.
Drug Metabolism and Pharmacokinetics (N.M., P.S., G.C., O.K., H.S., M.W., K.L.), Pre-clinical Safety (K.K.B., B.B., F.P., A.W.), and Clinical Sciences and Innovation Translational Medicine (J.A.-C.), Novartis Institutes for BioMedical Research, Novartis Pharma, Basel, Switzerland; and Department of Plastic, Reconstructive, Aesthetic and Hand Surgery (B.L., R.W., D.J.S.), and Department of Dermatology (P.I.), University Hospital Basel, Basel, Switzerland

The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
J Invest Dermatol 2014 Mar 4;134(3):845-849. Epub 2013 Sep 4.
Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany; Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany. Electronic address:

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Am J Hum Genet 2006 Oct 25;79(4):724-30. Epub 2006 Aug 25.
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Technion-Israel Institute of Technology, Haifa, Israel.