Publications by authors named "Frank Majewski"

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A family with autosomal dominant oculo-auriculo-vertebral spectrum.
Christiane Tasse, Frank Majewski, Stefan Böhringer, Sven Fischer, Hermann-Josef Lüdecke

Clin Dysmorphol· January 2007

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Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
Christiane Tasse, Stefan Böhringer, Sven Fischer, Hermann-Josef Lüdecke, Beate Albrecht, Frank Majewski

Eur J Med Genet· February 2006

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Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.
Barbara Leube, Frank Majewski, Jürgen Gebauer, Brigitte Royer-Pokora

Am J Med Genet A· December 2003

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Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Seval Türkmen, Gabriele Gillessen-Kaesbach, Peter Meinecke, Beate Albrecht, Luitgard M Neumann, Frank Majewski

Eur J Hum Genet· November 2003

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Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Katarina Lehmann, Petra Seemann, Sigmar Stricker, Marai Sammar, Birgit Meyer, Frank Majewski

Proc Natl Acad Sci U S A· October 2003

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Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH.
Barbara Leube, Frank Majewski, Matthias Drechsler, Brigitte Royer-Pokora

Clin Dysmorphol· October 2003

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Otocephaly and holoprosencephaly in only one monozygotic twin.
Petra Reinecke, Christian Figge, Frank Majewski, Franz Borchard

Am J Med Genet A· June 2003

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Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Luciana Musante, Hans G Kehl, Frank Majewski, Peter Meinecke, Susann Schweiger

Eur J Hum Genet· February 2003

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Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.
Cristina Skrypnyk, Timm O Goecke, Frank Majewski, Oliver Bartsch

Am J Med Genet· November 2002

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A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
Frances R Goodman, Frank Majewski, Amanda L Collins, Peter J Scambler

Am J Hum Genet· February 2002

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