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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

Academic Journal

Altug Teber, Ö; Gillessen-Kaesbach, Gabriele; Fischer, Sven; Bü#hringer, Stefan; Albrecht, Beate; Albert, Angelika; Arslan-Kirchner, Mine; Haan, Eric; Hagedorn-greiwe, Monika; Hammans, Christof; Henn, Wolfram; Hinkel, Georg Klaus; Rainer König; Kunstmann, Erdmute; Kunze, Jürgen; Neumannw, Kunzew, Luitgard M; Prott, Eva-christina; Rauch, Anita; Rott, Hans-dieter; Seide, Heide

European Journal of Human Genetics. Nov2004, Vol. 12 Issue 11, p879-890. 12p.

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Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40.

Academic Journal

Tiecke, Frank; Katzke, Stefanie; Booms, Patrick; Robinson, Peter N; Neumann, Luitgard; Godfrey, Maurice; Mathews, Kurt R; Scheuner, Maren; Hinkel, Georg Klaus; Brenner, Rolf E; Hövels-Gürich, Hedwig H; Hagemeier, Christian; Fuchs, Josefine; Skovby, Flemming; Rosenberg, Thomas

European Journal of Human Genetics. Jan2001, Vol. 9 Issue 1, p13. 9p.

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Deletion mapping by FISH with BACs in patients with partial monosomy 22q13.

Academic Journal

Schröder, K.; Schuffenhauer, Simone; Seidel, Heide; Bartsch, Oliver; Blin, Nikolaus; Hinkel, Georg Klaus; Schmitt, Holger

Human Genetics; May1998, Vol. 102 Issue 5, p557-561, 5p

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Body height in Turner's syndrome.

Academic Journal

Pelz, Lothar; Timm, Dietrich; Eyermann, Ellen; Hinkel, Georg Klaus; Kirchner, Margitta; Verron, Gunther

Clinical Genetics; Aug1982, Vol. 22 Issue 2, p62-66, 5p

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False-negative prenatal exclusion of Wiskott-Aldrich syndrome by measurement of fetal platelet count and size.

Academic Journal

Lorenz, Peter; Bollmann, Rainer; Hinkel, Georg Klaus; Mächler, Marco; Siegert, Gabriele; Stamminger, Gudrun; Wendisch, Jörg; Ziemer, Sabine; Lorenz, P; Bollmann, R; Hinkel, G K; Mächler, M; Siegert, G; Stamminger, G; Wendisch, J; Ziemer, S

Prenatal Diagnosis; Nov1991, Vol. 11 Issue 11, p819-825, 7p

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Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3Dedicated to Jürgen Kunze on the occasion of his 65th birthday with best wishes.

Periodical

Horn, Denise; Tönnies, Holger; Neitzel, Heidemarie; Wahl, Dagmar; Hinkel, Georg Klaus; Moers, Arpad von; Bartsch, Oliver

American Journal of Medical Genetics. Part A; July 2004, Vol. 128 Issue: 2 p85-92, 8p

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Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region

Periodical

Horn, Denise; Neitzel, Heidemarie; Tönnies, Holger; Kalscheuer, Vera; Kunze, Jürgen; Hinkel, Georg Klaus; Bartsch, Oliver

American Journal of Medical Genetics. Part A; 15 March 2003, Vol. 117 Issue: 3 p236-244, 9p

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A small deletion of 16q23.1→16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348−, P5432+)] in a boy with iris coloboma and minor anomalies

Periodical

Werner, Walter; Kraft, Sabine; Callen, David F.; Bartsch, Oliver; Hinkel, Georg Klaus

American Journal of Medical Genetics. Part A; 27 June 1997, Vol. 70 Issue: 4 p371-376, 6p

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No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585

Periodical

Bartsch, Oliver; Wagner, Annett; Hinkel, Georg Klaus; Lichtner, Peter; Murken, Jan; Schuffenhauer, Simone

American Journal of Medical Genetics. Part A; 23 April 1999, Vol. 83 Issue: 5 p425-426, 2p

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