Search Results - "Grzeschik, K. H."

Synpolydactyly: clinical and molecular advances by Malik, S, Grzeschik, K-H

“…Synpolydactyly (SPD) is a rare limb deformity showing a distinctive combination of syndactyly and polydactyly. Of the nine non‐syndromic syndactylies, it is…”
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Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome by Doll, A, Grzeschik, K H

“…Williams-Beuren syndrome (WBS), due to a contiguous gene deletion of approximately 1.5 Mb at 7q11.23, is a complex developmental disorder with multisystemic…”
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Point Mutations in Human GLI3 Cause Greig Syndrome by Wild, Anja, Kalff-Suske, Martha, Vortkamp, Andrea, Bornholdt, Dorothea, Kônig, Rainer, Grzeschik, Karl-Heinz

“…Greig cephalopolysyndactyly syndrome (GCPS, MIM 175700) is a rare autosomal dominant developmental disorder characterized by craniofacial abnormalities and…”
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The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia by Koch, Manuela C., Steinmeyer, Klaus, Lorenz, Claudius, Ricker, Kenneth, Wolf, Friedrich, Otto, Michael, Zoll, Barbara, Lehmann-Horn, Frank, Grzeschik, Karl-Heinz, Jentsch, Thomas J.

“…Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by…”
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Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis) by Feldmeyer, L., Mevorah, B., Grzeschik, K.H., Huber, M., Hohl, D.

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Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome by Kalff-Suske, Martha, Wild, Anja, Topp, Juliane, Wessling, Martina, Jacobsen, Eva-Maria, Bornholdt, Dorothea, Engel, Hartmut, Heuer, Heike, Aalfs, Cora M., Ausems, Margreet G. E. M., Barone, Rita, Herzog, Andreas, Heutink, Peter, Homfray, Tessa, Gillessen-Kaesbach, Gabriele, König, Rainer, Kunze, Jürgen, Meinecke, Peter, Müller, Dietmar, Rizzo, Renata, Strenge, Sibylle, Superti-Furga, Andrea, Grzeschik, Karl-Heinz

“…Greig cephalopolysyndactyly syndrome, characterized by craniofacial and limb anomalies (GCPS; MIM 175700), previously has been demonstrated to be associated…”
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Mutational spectrum of NSDHL in CHILD syndrome by Bornholdt, D, König, A, Happle, R, Leveleki, L, Bittar, M, Danarti, R, Vahlquist, A, Tilgen, W, Reinhold, U, Poiares Baptista, A, Grosshans, É, Vabres, P, Niiyama, S, Sasaoka, K, Tanaka, T, Meiss, A L, Treadwell, P A, Lambert, D, Camacho, F, Grzeschik, K-H

“…[...]their case had all the clinical features of X linked dominant chondrodysplasia punctata but none of the morphological criteria of CHILD syndrome. 1, 22…”
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Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts by ROEWER, L, ARNEMANN, J, SPURR, N. K, GRZESCHIK, K.-H, EPPLEN, J. T

“…The human genome contains a large number of interspersed simple repeat sequences that are variable in length and can therefore serve as highly informative,…”
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Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations by Debeer, Philippe, Peeters, H., Driess, S., De Smet, L., Freese, K., Matthijs, G., Bornholdt, D., Devriendt, K., Grzeschik, K.-H., Fryns, J.-P., Kalff-Suske, M.

“…Greig cephalopolysyndactyly (GCPS) (OMIM 175700) is an autosomal dominant disorder characterized by a distinct combination of craniofacial, hand and foot…”
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Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12 by Malik, S, Abbasi, AA, Ansar, M, Ahmad, W, Koch, MC, Grzeschik, K-H

“…Syndactyly type II or synpolydactyly (SPD) is the second most frequent syndactyly type and is inherited in an autosomal dominant fashion. The cardinal features…”
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Mild phenotypic expression of CHILD syndrome in two generations by Alexandroff, A.B., Kinning, E., Bamford, M., Grzeschik, K.H., Milligan, A., Camp, R.D.R.

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CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene by Kim, C A, Konig, A, Bertola, D R, Albano, L M J, Gattás, G J F, Bornholdt, D, Leveleki, L, Happle, R, Grzeschik, K-H

“…The X-linked dominant CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) is a rare developmental defect characterized by a…”
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GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families by Vortkamp, Andrea, Gessler, Manfred, Grzeschik, Karl-Heinz

“…The Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder affecting limb and craniofacial development in humans. GCPS-affected…”
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Serotonin transporter gene-linked polymorphic region: Allele distributions in relationship to body weight and in anorexia nervosa by Hinney, A., Barth, N., Ziegler, A., Von Prittwitz, S., Hamann, A., Hennighausen, K., Pirke, K.M., Heils, A., Rosenkranz, K., Roth, H., Coners, H., Mayer, H., Herzog, W., Siegfried, A., Lehmkuhl, G., Poustka, F., Schmidt, M.H., Schäfer, H., Grzeschik, K.-H., Lesch, K.-P., Lentes, K.-U., Remschmidt, H., Hebebrand, J.

“…Several lines of evidence implicate a role for the serotonergic system in body weight regulation and eating disorders. The magnitude and duration of…”
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The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations by Radhakrishna, Uppala, Bornholdt, Dorothea, Scott, Hamish S., Patel, Uday C., Rossier, Colette, Engel, Hartmut, Bottani, Armand, Chandal, Divya, Blouin, Jean-Louis, Solanki, Jitendra V., Grzeschik, Karl-Heinz, Antonarakis, Stylianos E.

“…Functional characterization of a gene often requires the discovery of the full spectrum of its associated phenotypes. Mutations in the human GLI3 gene have…”
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CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder by Avgerinou, GP, Asvesti, AP, Katsambas, AD, Nikolaou, VA, Christofidou, EC, Grzeschik, KH, Happle, R

“…Background  CHILD syndrome, a rare hereditary disorder of keratinization (MIM 308050, 300275), is the acronym proposed by Happle to name a rare entity,…”
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Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products by Braun, T., Bober, E., Buschhausen‐Denker, G., Kohtz, S., Grzeschik, K.H., Arnold, H.H., Kotz, S.

“…The development of muscle cells involves the action of myogenic determination factors. In this report, we show that human skeletal muscle tissue contains,…”
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Selective Differential Display of RNAs containing interspersed repeats: analysis of changes in the transcription of HERV-K LTRs in germ cell tumors by Vinogradova, T, Leppik, L, Kalinina, E, Zhulidov, P, Grzeschik, K-H, Sverdlov, E

“…A technique for the Selective Differential Display of RNAs containing Interspersed Repeats (SDDIR) has been elaborated. SDDIR involves two main steps: (1)…”
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β3-adrenergic-receptor allele distributions in children, adolescents and young adults with obesity, underweight or anorexia nervosa by HINNEY, A, LENTES, K.-U, RÖMER, G, WINNIKES, U, MAYER, H, HERZOG, W, LEHMKUHL, G, POUSTKA, F, SCHMIDT, M. H, BLUM, W. F, PIRKE, K. M, SCHÄFER, H, ROSENKRANZ, K, GRZESCHIK, K.-H, REMSCHMIDT, H, HEBEBRAND, J, BARTH, N, ROTH, H, ZIEGLER, A, HENNIGHAUSEN, K, CONERS, H, WURMSER, H, JACOB, K

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Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation by OEFFNER, F, KORN, T, ROTH, H, ZIEGLER, A, HINNEY, A, GOLDSCHMIDT, H, SIEGFRIED, W, HEBEBRAND, J, GRZESCHIK, K-H

“…NDN, which codes for the human necdin protein, is a candidate gene for Prader-Willi syndrome (PWS). One feature of this neurogenetic disorder is hyperphagia…”
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