The importance of genetic susceptibility in Dupuytren's disease
Becker, K., Tinschert, S., Lienert, A., Bleuler, P.E., Staub, F., Meinel, A., Rößler, J., Wach, W., Hoffmann, R., Kühnel, F., Damert, H.-G., Nick, H.-E., Spicher, R., Lenze, W., Langer, M., Nürnberg, P., Hennies, H.C.
Published in Clinical genetics (01.05.2015)
Published in Clinical genetics (01.05.2015)
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Journal Article
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients
Wimmer, K., Yao, S., Claes, K., Kehrer-Sawatzki, H., Tinschert, S., De Raedt, T., Legius, E., Callens, T., Beiglböck, H., Maertens, O., Messiaen, L.
Published in Genes chromosomes & cancer (01.03.2006)
Published in Genes chromosomes & cancer (01.03.2006)
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Journal Article
Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2)
Tuin, I, Voss, U, Kang, J-S, Kessler, K, Rüb, U, Nolte, D, Lochmüller, H, Tinschert, S, Claus, D, Krakow, K, Pflug, B, Steinmetz, H, Auburger, G
Published in Neurology (12.12.2006)
Published in Neurology (12.12.2006)
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Journal Article
Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome
Di Donato, N., Riess, A., Hackmann, K., Rump, A., Huebner, A., von der Hagen, M., Hahn, G., Schrock, E., Tinschert, S.
Published in American journal of medical genetics. Part A (01.11.2012)
Published in American journal of medical genetics. Part A (01.11.2012)
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Journal Article
Towards characterization of palmoplantar keratoderma caused by gain‐of‐function mutation in loricrin: analysis of a family and review of the literature
Gedicke, M.M., Traupe, H., Fischer, B., Tinschert, S., Hennies, H.C.
Published in British journal of dermatology (1951) (01.01.2006)
Published in British journal of dermatology (1951) (01.01.2006)
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Journal Article
Pontine tegmental cap dysplasia: the severe end of the clinical spectrum
Rauscher, C, Poretti, A, Neuhann, T M, Forstner, R, Hahn, G, Koch, J, Tinschert, S, Boltshauser, E
Published in Neuropediatrics (01.02.2009)
Published in Neuropediatrics (01.02.2009)
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Journal Article
Three-generational alkaptonuria in a non-consanguineous family
Oexle, K., Engel, K., Tinschert, S., Haas, D., Lee-Kirsch, M. A.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Journal Article
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy
Tinschert, Sigrid, Ruf, Nico, Bernascone, Ilenia, Sacherer, Kai, Lamorte, Giuseppe, Neumayer, Hans-Hellmut, Nürnberg, Peter, Luft, Friedrich C., Rampoldi, Luca
Published in Nephrology, dialysis, transplantation (01.12.2004)
Published in Nephrology, dialysis, transplantation (01.12.2004)
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Journal Article
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies
Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G., Kutsche, K.
Published in Molecular syndromology (01.12.2011)
Published in Molecular syndromology (01.12.2011)
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Journal Article
A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability
Tyshchenko, N., Neuhann, T.M., Gerlach, E., Hahn, G., Heisch, K., Rump, A., Schrock, E., Tinschert, S., Hackmann, K.
Published in American journal of medical genetics. Part A (01.09.2011)
Published in American journal of medical genetics. Part A (01.09.2011)
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Journal Article
The Kabuki syndrome: four patients with oral abnormalities
Petzold, D., Kratzsch, E., Opitz, Ch, Tinschert, S.
Published in European journal of orthodontics (01.02.2003)
Published in European journal of orthodontics (01.02.2003)
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Journal Article
Spontaneous remission of chiasmatic/hypothalamic masses in neurofibromatosis type 1 : report of two cases
GOTTSCHALK, S, TAVAKOLIAN, R, BUSKE, A, TINSCHERT, S, LEHMANN, R
Published in Neuroradiology (01.03.1999)
Published in Neuroradiology (01.03.1999)
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Conference Proceeding
Journal Article
18P The role of CTNNA1 truncating variants in hereditary diffuse gastric cancer (HDGC)
Lobo, S., Dias, A., Ferreira, M., Herrera-Mullar, J., Svrcek, M., Hueneburg, R., Moreira, L., Tinschert, S., Boussemart, L., Balmaña, J., Strong, V., Lazaro, C., Katona, B., Colas, C., Coulet, F., Karam, R., Pereira, P.S., Benusiglio, P.R., Oliveira, C.
Published in Annals of oncology (01.09.2024)
Published in Annals of oncology (01.09.2024)
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Journal Article
Refinement of the chromosome 5p locus for craniometaphyseal dysplasia
CHANDLER, D, TINSCHERT, S, LOHAN, K, HARROP, K, GOLDBLATT, J, NAGY, M, HUMMEL, S, BRAUN, H.-S, LAING, N, NÜRNBERG, P
Published in Human genetics (01.05.2001)
Published in Human genetics (01.05.2001)
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Journal Article
Molecular and Phenotypic Characterization of the RORB -Related Disorder
Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M, Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A, Labalme, Audrey, Cuddapah, Vishnu A, Ruggiero, Sarah M, Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O, Helbig, Katherine L, Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A, Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S, Rosenfeld, Jill A, Au, Margaret, Grand, Katheryn, Graham, Jr, John, Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja, Tinschert, Sigrid, Platzer, Konrad, Bartolomaeus, Tobias, Mohnke, Ines, Radtke, Maximilian, Jamra, Rami Abou, Helbig, Ingo, Jansen, Floortje E, Koop, Klaas, Rudolf, Gabrielle, Küry, Sebastien, Courchet, Julien, Guerrini, Renzo, Lesca, Gaetan
Published in Neurology (23.01.2024)
Published in Neurology (23.01.2024)
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Journal Article
Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1
Knoblauch, H, Thiel, G, Tinschert, S, Körner, H, Tennstedt, C, Chaoui, R, Kohlhase, J, Dixkens, C, Blanck, C
Published in Journal of medical genetics (01.05.2000)
Published in Journal of medical genetics (01.05.2000)
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Journal Article