Publications by authors named "Hartmut Peters"

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Two Novel Monoallelic Calreticulin Mutations in a Patient With Essential Thrombocythemia.
Eniko Kamory, Thomas Schmidt, Cedric Broquere, Hartmut Peters, Berthold Hocher

J Hematol· October 2017

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Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.
Julia Hentschel, Dana Tatun, Dmitri Parkhomchuk, Ingo Kurth, Bettina Schimmel, Hartmut Peters

Gene· September 2016

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Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.
Annabelle Enriquez, Michael Krivanek, Ricarda Flöttmann, Hartmut Peters, Meredith Wilson

Am J Med Genet A· September 2016

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Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation--Expanding the Phenotypic Spectrum.
Jelena Ruml, Goran Cuturilo, Marija Lukac, Hartmut Peters

Pediatr Dermatol· April 2016

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Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.
Anja Harder, Sabrina Titze, Lena Herbst, Thomas Harder, Katrin Guse, Hartmut Peters

Twin Res Hum Genet· December 2010

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Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Claus E Ott, Gundula Leschik, Fabienne Trotier, Louise Brueton, Han G Brunner, Hartmut Peters

Hum Mutat· August 2010

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Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
Sabrina Titze, Hartmut Peters, Sandra Währisch, Thomas Harder, Katrin Guse

Eur J Hum Genet· January 2010

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A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities.
Ronen Spiegel, Yoseph Horovitz, Hartmut Peters, Fikret Erdogan, Ilana Chervinsky

Am J Med Genet A· December 2009

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Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
Thomas E Neumann, Judith Allanson, Ines Kavamura, Bronwyn Kerr, Giovanni Neri, Hartmut Peters

Eur J Hum Genet· April 2009

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Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
Nicola Brunetti-Pierri, Daniela Del Gaudio, Hartmut Peters, Henri Justino, Claus-Eric Ott

Am J Med Genet A· November 2008

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Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.
Ulrike Hennewig, Berit Hadzik, Markus Vogel, Thomas Meissner, Timm Goecke, Hartmut Peters

J Hum Genet· August 2008

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Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
Diane Beysen, Lara Moumné, Reiner Veitia, Hartmut Peters, Bart P Leroy

Hum Mol Genet· July 2008

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Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).
Andreas Tzschach, Christina Kelbova, Sabine Weidensee, Hartmut Peters, Hans-Hilger Ropers

Ophthalmic Genet· March 2008

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Hay-Wells syndrome in a child with mutation in the TP73L gene.
Natalie Garcia Bartels, Luitgard M Neumann, Anna Mleczko, Katharina Rubach, Hartmut Peters

J Dtsch Dermatol Ges· October 2007

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Comparative proteomics in neurodegenerative and non-neurodegenerative diseases suggest nodal point proteins in regulatory networking.
Claus Zabel, Dijana Sagi, Angela M Kaindl, Nicole Steireif, Yvonne Kläre, Hartmut Peters

J Proteome Res· August 2006

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Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.
Andrea Pietschmann, Parvin Mehdipour, Parvin Mehdipour, Morteza Atri, Wera Hofmann, Hartmut Peters

J Cancer Res Clin Oncol· August 2005

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Cherubism - new hypotheses on pathogenesis and therapeutic consequences.
Peter Hyckel, Alexander Berndt, Peter Schleier, Joachim H Clement, Volkmar Beensen, Hartmut Peters

J Craniomaxillofac Surg· February 2005

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Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.
Ingrid Bauer, Martin Gencik, Franco Laccone, Hartmut Peters, Bernhard H F Weber

Ann Neurol· May 2002

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Endocrinological and genetic studies in patients with Polycystic Ovary Syndrome (PCOS).
Zahra Ghanaati, Hartmut Peters, Susanne Müller, Manfred Ventz, Bettina Pfüller

Neuro Endocrinol Lett· January 1999

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