Search Results - "Kuechler, A."

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci by Ledig, S., Hiort, O., Scherer, G., Hoffmann, M., Wolff, G., Morlot, S., Kuechler, A., Wieacker, P.

“…BACKGROUND XY gonadal dysgenesis (XY-GD) is a heterogeneous disorder characterized by failure of testicular development despite a normal male karyotype…”
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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism by Bramswig, Nuria C., Lüdecke, H.-J., Pettersson, M., Albrecht, B., Bernier, R. A., Cremer, K., Eichler, E. E., Falkenstein, D., Gerdts, J., Jansen, S., Kuechler, A., Kvarnung, M., Lindstrand, A., Nilsson, D., Nordgren, A., Pfundt, R., Spruijt, L., Surowy, H. M., de Vries, B. B. A., Wieland, T., Engels, H., Strom, T. M., Kleefstra, T., Wieczorek, D.

“…The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting…”
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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome by Czeschik, J. C., Voigt, C., Alanay, Y., Albrecht, B., Avci, S., FitzPatrick, D., Goudie, D. R., Hehr, U., Hoogeboom, A. J., Kayserili, H., Simsek-Kiper, P. O., Klein-Hitpass, L., Kuechler, A., López-González, V., Martin, M., Rahmann, S., Schweiger, B., Splitt, M., Wollnik, B., Lüdecke, H. -J., Zeschnigk, M., Wieczorek, D.

“…Nager syndrome (MIM #154400) is the best-known preaxial acrofacial dysostosis, mainly characterized by craniofacial and preaxial limb anomalies. The…”
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DYT16 mimics metabolic disease with fever associated beginning of dystonia and MRI abnormalities by Kölbel, H, Kuechler, A, Strom, T.M, Lüdecke, H.-J, Möller-Hartmann, C, Della-Marina, A, Wieczoreck, D, Schara, U

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Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly by Morris-Rosendahl, DJ, Najm, J, Lachmeijer, AMA, Sztriha, L, Martins, M, Kuechler, A, Haug, V, Zeschnigk, C, Martin, P, Santos, M, Vasconcelos, C, Omran, H, Kraus, U, Van der Knaap, MS, Schuierer, G, Kutsche, K, Uyanik, G

“…Mutations in the α‐1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformations resemblant of classical lissencephaly but with a specific…”
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Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly by Morris-Rosendahl, D J, Najm, J, Lachmeijer, A M A, Sztriha, L, Martins, M, Kuechler, A, Haug, V, Zeschnigk, C, Martin, P, Santos, M, Vasconcelos, C, Omran, H, Kraus, U, Van der Knaap, M S, Schuierer, G, Kutsche, K, Uyanik, G

“…Mutations in the alpha-1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformations resemblant of classical lissencephaly but with a…”
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Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2 by Chatron, N, Møller, R.S, Champaigne, N.L, Kuechler, A, Labalme, A, Baggett, L, Wieczorek, D, Portes, V. des, Edery, P, Gardella, E, Scheffer, I.E, Mefford, H, Sanlaville, D, Carvill, G.L, Lesca, G

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Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth by Revencu, N., Boon, L.M., Dompmartin, A., Rieu, P., Busch, W.L., Dubois, J., Forzano, F., van Hagen, J.M., Halbach, S., Kuechler, A., Lachmeijer, A.M.A., Lähde, J., Russell, L., Simola, K.O.J., Mulliken, J.B., Vikkula, M.

“…The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous…”
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Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding by Liehr, T, Starke, H, Heller, A, Kosyakova, N, Mrasek, K, Gross, M, Karst, C, Steinhaeuser, U, Hunstig, F, Fickelscher, I, Kuechler, A, Trifonov, V, Romanenko, S A, Weise, A

“…During the last decade not only multicolor fluorescence in situ hybridization (FISH) using whole chromosome paints as probes, but also numerous chromosome…”
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A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature by Kuechler, A., Hentschel, J., Kurth, I., Stephan, B., Prott, E.-C., Schweiger, B., Schuster, A., Wieczorek, D., Lüdecke, H.-J.

“…Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of inherited defects of enamel formation. In isolated AI (no additional…”
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Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature by Liehr, T, Utine, G E, Trautmann, U, Rauch, A, Kuechler, A, Pietrzak, J, Pietracz, J, Bocian, E, Kosyakova, N, Mrasek, K, Boduroglu, K, Weise, A, Aktas, D

“…Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The…”
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Putative colon cancer risk factors damage global DNA and TP53 in primary human colon cells isolated from surgical samples by Schaeferhenrich, A., Sendt, W., Scheele, J., Kuechler, A., Liehr, T., Claussen, U., Rapp, A., Greulich, K.-O., Pool-Zobel, B.L.

“…This study describes a novel in vitro method in genetic toxicology that is based on detection of chemical-induced DNA damage connected with altered migration…”
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Radiation sensitivity testing by fluorescence in-situ hybridization: how many metaphases have to be analysed? by Keller, U, Grabenbauer, G, Kuechler, A, Sauer, R, Distel, L

“…The technique of three-colour fluorescence in-situ hybridization (FISH) is generally regarded as 'gold standard' for detecting chromosomal aberrations. The…”
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Multicolor chromosome banding (MCB) with YAC/BAC-based probes and region-specific microdissection DNA libraries by Liehr, T, Weise, A, Heller, A, Starke, H, Mrasek, K, Kuechler, A, Weier, H-U G, Claussen, U

“…Multicolor chromosome banding (MCB) allows the delineation of chromosomal regions with a resolution of a few megabasepairs, i.e., slightly below the size of…”
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Multitude multicolor chromosome banding (mMCB) - a comprehensive one-step multicolor FISH banding method by Weise, A, Heller, A, Starke, H, Mrasek, K, Kuechler, A, Pool-Zobel, B L, Claussen, U, Liehr, T

“…Multicolor chromosome banding (MCB) using one single chromosome-specific MCB probe set per experiment was previously reported as powerful tool in molecular…”
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Technical report: Radiation sensitivity testing by fluorescence in-situ hybridization: how many metaphases have to be analysed? by Keller, U., Grabenbauer, G., Kuechler, A., Sauer, R., Distel, L.

“…Purpose: The technique of three-colour fluorescence in-situ hybridization (FISH) is generally regarded as 'gold standard' for detecting chromosomal…”
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Comparative M-FISH and CGH analyses in sensitive and drug-resistant human T-cell acute leukemia cell lines by Weise, A, Liehr, T, Efferth, T, Kuechler, A, Gebhart, E

“…Cell lines of human T-cell acute lymphoblastic leukemias (T-ALL) have gained high interest for study of mechanisms of cytostatic drug resistance. However, they…”
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The hierarchically organized splitting of chromosome bands into sub-bands analyzed by multicolor banding (MCB) by Lehrer, H, Weise, A, Michel, S, Starke, H, Mrasek, K, Heller, A, Kuechler, A, Claussen, U, Liehr, T

“…To clarify the nature of chromosome sub-bands in more detail, the multicolor banding (MCB) probe-set for chromosome 5 was hybridized to normal metaphase…”
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Conspicuous GTG-banding results of the centromere-near region can be caused by alphoid DNA heteromorphism by Liehr, T., Ziegler, M., Starke, H., Heller, A., Kuechler, A., Kittner, G., Beensen, V., Seidel, J., Häßler, H., Müsebeck, J., Claussen, U.

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O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects by Roos, A., van der Ven, P., Alrohaif, H., Kölbel, H., Heil, L., Della Marina, A., Weis, J., Töpf, A., Vorgerd, M., Schara-Schmidt, U., Gangfuss, A., Evangelista, T., Hentschel, A., Grüneboom, A., Fuerst, D., Kuechler, A., Tzschach, A., Depienne, C., Lochmüller, H.

“…Filamin-A-interacting protein 1 (FILIP1) is a structural protein that is involved in neuronal and muscle function and integrity and interacts with FLNa and…”
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