Search Results - "Grzeschik, KH"

Mutations in Bone Morphogenetic Protein Receptor 1B Cause Brachydactyly Type A2 by Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, Majewski, Frank, Tinschert, Sigrid, Grzeschik, Karl-Heinz, Müller, Dietmar, Knaus, Petra, Nürnberg, Peter, Mundlos, Stefan

“…Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable…”
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Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene by SALHI, Aicha, BORNHOLDT, Dorothea, OEFFNER, Frank, MALIK, Sajid, HEID, Ernest, HAPPLE, Rudolf, GRZESCHIK, Karl-Heinz

“…The recessive oncogene cylindromatosis (CYLD) mapping on 16q12-q13 is generally implicated in familial cylindromatosis, whereas a gene region for multiple…”
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THIK-1 and THIK-2, a Novel Subfamily of Tandem Pore Domain K+ Channels by Rajan, S, Wischmeyer, E, Karschin, C, Preisig-Müller, R, Grzeschik, K H, Daut, J, Karschin, A, Derst, C

“…Two cDNAs encoding novel K + channels, THIK-1 and THIK-2 ( t andem pore domain h alothane i nhibited K + channel), were isolated from rat brain. The proteins…”
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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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Expression Pattern in Brain of TASK-1, TASK-3, and a Tandem Pore Domain K+ Channel Subunit, TASK-5, Associated with the Central Auditory Nervous System by Karschin, Christine, Wischmeyer, Erhard, Preisig-Müller, Regina, Rajan, Sindhu, Derst, Christian, Grzeschik, Karl-Heinz, Daut, Jürgen, Karschin, Andreas

“…TWIK-related acid-sensitive K+ (TASK) channels contribute to setting the resting potential of mammalian neurons and have recently been defined as molecular…”
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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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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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Human limb malformations; an approach to the molecular basis of development by Grzeschik, Karl-Heinz

“…Analysis of human inherited limb malformations and of mouse mutants copying individual human mutations team up to promote the understanding of vertebrate limb…”
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The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins by Gu, Wenli, Wevers, Andrea, Schröder, Hannsjörg, Grzeschik, Karl-Heinz, Derst, Christian, Brodtkorb, Eylert, de Vos, Rob, Steinlein, Ortrud K

“…Recently mutations in the LGI1 (leucine-rich, glioma-inactivated 1) gene have been found in human temporal lobe epilepsy. We have now identified three formerly…”
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Conradi-Hünermann-Happle Syndrome (X-linked Dominant Chondrodysplasia Punctata) Confirmed by Plasma Sterol and Mutation Analysis by KOLB-MÄURER, Annette, GRZESCHIK, Karl-Heinz, HAAS, Dorothea, BRÖCKER, Eva-Bettina, HAMM, Henning

“…Conradi-Hünermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata, is a rare genetic disorder characterized by skeletal dysplasia, stippled…”
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Mutation in GLI3 in postaxial polydactyly type A by Wild, Anja, Grzeschik, Karl-Heinz, Antonarakis, Stylianos E, Radhakrishna, Uppala

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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 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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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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Mutations in the Gene Encoding the Inwardly-Rectifying Renal Potassium Channel, ROMK, Cause the Antenatal Variant of Bartter Syndrome: Evidence for Genetic Heterogeneity by Károlyi, Lothar, Konrad, Martin, Köckerling, Arnold, Ziegler, Andreas, Zimmermann, Dorthe K., Roth, Bernd, Wieg, Christian, Grzeschik, Karl-Heinz, Koch, Manuela C., Seyberth, Hannsjörg W., Vargas, Rosa, Forestier, Lionel, Jean, Genevieve, Deschaux, Michele, Rizzoni, Gian Franco, Niaudet, Patrick, Antignac, Corinne, Feldmann, Delphine, Lorridon, Frederique, Cougoureux, Emmanuel, Laroze, France, Alessandri, Jean-Luc, David, Louis, Saunier, Pascal, Deschenes, Georges, Hildebrandt, Friedhelm, Vollmer, Martin, Proesmans, Willem, Brandis, Matthias, van den Heuvel, Lambertus P. W. J., Lemmink, Henny H., Nillesen, Willy, Monnens, Leo A. H., Knoers, Nine V. A. M., Guay-Woodford, Lisa M., Wright, Christopher J., Madrigal, Gilbert, Hebert, Steven C.

“…Inherited renal tubular disorders associated with hypokalemic alkalosis (Bartter-like syndromes) can be subdivided into at least three clinical phenotypes: (i)…”
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A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement by König, Arne, Happle, Rudolf, Fink-Puches, Regina, Soyer, Hans Peter, Bornholdtb, Dorothea, Engelb, Hartmut, Grzeschik, Karl-Heinz

“…The CHILD syndrome (MIM 308050), an acronym for congenital hemidysplasia with ichthyosiform nevus and limb defects, is an X-linked dominant trait with…”
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Primary gene structure and expression studies of rodent paracellin-1 by WEBER, Stefanie, SCHLINGMANN, Karl P, KONRAD, Martin, PETERS, Melanie, NEJSUM, Lene Niemann, NIELSEN, Søren, ENGEL, Hartmut, GRZESCHIK, Karl-Heinz, SEYBERTH, Hannsjörg W, GRÖNE, Hermann-Joseph, NÜSING, Rolf

“…The novel member of the claudin multigene family, paracellin-1/claudin-16, encoded by the gene PCLN1, is a renal tight junction protein that is involved in the…”
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Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31 by MALIK, Sajid, SCHOTT, Jörg, WAJAHAT ALI, Syed, OEFFNER, Frank, AMIN-UD-DIN, Muhammad, AHMAD, Wasim, GRZESCHIK, Karl-Heinz, KOCH, Manuela C

“…There is good evidence from the medical literature that type I syndactyly, the most common form of the nonsyndromic syndactylies, is clinically heterogeneous…”
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