Publications by authors named "Hartmut Peters"

19Publications

Two Novel Monoallelic Calreticulin Mutations in a Patient With Essential Thrombocythemia.

J Hematol 2017 Oct 20;6(4):105-108. Epub 2017 Sep 20.

IFLb Laboratoriumsmedizin Berlin GmbH, Windscheidstraße 18, 10627 Berlin, Germany.

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October 2017

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

Am J Med Genet A 2016 09 28;170(9):2372-6. Epub 2016 Jun 28.

Department of Clinical Genetics, Children's Hospital at Westmead, Westmead, NSW, Australia.

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September 2016

Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation--Expanding the Phenotypic Spectrum.

Pediatr Dermatol 2015 May-Jun;32(3):421-2. Epub 2014 Sep 10.

Institute of Medical and Human Genetics, Charite-Universitaetsmedizin Berlin, Berlin, Germany.

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April 2016

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.

Eur J Hum Genet 2010 Jan;18(1):81-7

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Berlin 10117, Germany.

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January 2010

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

Am J Med Genet A 2008 Nov;146A(21):2804-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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November 2008

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.

J Hum Genet 2008 14;53(6):573-577. Epub 2008 Mar 14.

Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.

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August 2008

Hay-Wells syndrome in a child with mutation in the TP73L gene.

J Dtsch Dermatol Ges 2007 Oct;5(10):919-23

Department of Dermatology and Allergy, Charité- Universitätsmedizin Berlin, Germany.

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October 2007

Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.

J Cancer Res Clin Oncol 2005 Aug 26;131(8):552-8. Epub 2005 May 26.

Institute of Medical Genetics, Charité, Humboldt University Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

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August 2005

Cherubism - new hypotheses on pathogenesis and therapeutic consequences.

J Craniomaxillofac Surg 2005 Feb 12;33(1):61-8. Epub 2005 Jan 12.

Department for Maxillofacial Surgery/Plastic Surgery, Friedrich-Schiller University, Jena, Germany.

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February 2005

Endocrinological and genetic studies in patients with Polycystic Ovary Syndrome (PCOS).

Neuro Endocrinol Lett 1999 ;20(5):323-327

Medical School Charité, Institute of Medical Genetics, Humboldt University, Charité; 10098 Berlin, Germany.

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January 1999