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
Ledig, S., Hiort, O., Scherer, G., Hoffmann, M., Wolff, G., Morlot, S., Kuechler, A., Wieacker, P.
Published in Human reproduction (Oxford) (01.10.2010)
Published in Human reproduction (Oxford) (01.10.2010)
Get full text
Journal Article
Molecular and clinical studies in 8 patients with Temple syndrome
Gillessen‐Kaesbach, G., Albrecht, B., Eggermann, T., Elbracht, M., Mitter, D., Morlot, S., van Ravenswaaij‐Arts, C.M.A., Schulz, S., Strobl‐Wildemann, G., Buiting, K., Beygo, J.
Published in Clinical genetics (01.06.2018)
Published in Clinical genetics (01.06.2018)
Get full text
Journal Article
A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN
Lehmann, K., Seemann, P., Silan, F., Goecke, T.O., Irgang, S., Kjaer, K.W., Kjaergaard, S., Mahoney, M.J., Morlot, S., Reissner, C., Kerr, B., Wilkie, A.O.M., Mundlos, S.
Published in American journal of human genetics (01.08.2007)
Published in American journal of human genetics (01.08.2007)
Get full text
Journal Article
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations
Ghalamkarpour, A, Morlot, S, Raas-Rothschild, A, Utkus, A, Mulliken, JB, Boon, LM, Vikkula, M
Published in Clinical genetics (01.10.2006)
Published in Clinical genetics (01.10.2006)
Get full text
Journal Article
Five Novel Locations of Neocentromeres in Human: 18q22.1, Xq27.1 similar to 27.2, Acro p13, Acro p12, and Heterochromatin of Unknown Origin
Klein, E, Rocchi, M, Ovens-Raeder, A, Kosyakova, N, Weise, A, Ziegler, M, Meins, M, Morlot, S, Fischer, W, Volleth, M, Polityko, A, Ogilvie, CMackie, Kraus, C, Liehr, T
Published in Cytogenetic and genome research (01.04.2012)
Published in Cytogenetic and genome research (01.04.2012)
Get full text
Journal Article
Five Novel Locations of Neocentromeres in Human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and Heterochromatin of Unknown Origin
Klein, E., Rocchi, M., Ovens-Raeder, A., Kosyakova, N., Weise, A., Ziegler, M., Meins, M., Morlot, S., Fischer, W., Volleth, M., Polityko, A., Ogilvie, C. Mackie, Kraus, C., Liehr, T.
Published in Cytogenetic and genome research (01.04.2012)
Published in Cytogenetic and genome research (01.04.2012)
Get full text
Journal Article
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin
Ghani-Kakhki, M., Robinson, P.N., Morlot, S., Mitter, D., Trimborn, M., Albrecht, B., Varon, R., Sperling, K., Neitzel, H.
Published in Molecular syndromology (01.06.2012)
Published in Molecular syndromology (01.06.2012)
Get full text
Journal Article
Human Ring Chromosomes - New Insights for their Clinical Significance
Guilherme, Rs, Klein, E, Hamid, Ab, Bhatt, S, Volleth, M, Polityko, A, Kulpanovich, A, Dufke, A, Albrecht, B, Morlot, S, Brecevic, L, Petersen, Mb, Manolakos, E, Kosyakova, N, Liehr, T
Published in Balkan journal of medical genetics (01.06.2013)
Published in Balkan journal of medical genetics (01.06.2013)
Get full text
Journal Article
10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences
Liehr, T., Stumm, M., Wegner, R.D., Bhatt, S., Hickmann, P., Patsalis, P.C., Meins, M., Morlot, S., Klaschka, V., Ewers, E., Hinreiner, S., Mrasek, K., Kosyakova, N., Cai, W.W., Cheung, S.W., Weise, A.
Published in Cytogenetic and genome research (01.01.2009)
Published in Cytogenetic and genome research (01.01.2009)
Get full text
Journal Article
Nonlinear feedback drives homeostatic plasticity in H2O2 stress response
Goulev, Youlian, Morlot, Sandrine, Matifas, Audrey, Huang, Bo, Molin, Mikael, Toledano, Michel B, Charvin, Gilles
Published in eLife (18.04.2017)
Published in eLife (18.04.2017)
Get full text
Journal Article
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
Zenker, Martin, Lehmann, Katarina, Schulz, Anna Leana, Barth, Helmut, Hansmann, Dagmar, Koenig, Rainer, Korinthenberg, Rudolf, Kreiss-Nachtsheim, Martina, Meinecke, Peter, Morlot, Susanne, Mundlos, Stefan, Quante, Anne S, Raskin, Salmo, Schnabel, Dirk, Wehner, Lars-Erik, Kratz, Christian P, Horn, Denise, Kutsche, Kerstin
Published in Journal of medical genetics (01.02.2007)
Published in Journal of medical genetics (01.02.2007)
Get full text
Journal Article
Mutation p.Trp3X and mild phenotype of Becker muscular dystrophy
Get full text
Conference Proceeding
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS
BARTSCH, Oliver, SCHMIDT, Stefanie, RICHTER, Marion, MORLOT, Susanne, SEEMANOVA, Eva, WIEBE, Glenis, RASI, Sasan
Published in Human genetics (01.09.2005)
Published in Human genetics (01.09.2005)
Get full text
Journal Article
Erratum zu: Massive parallele Sequenzierung in der Diagnostik hereditärer BRCA1/2-Mutationen
Auber, B., Heinecke, K., Morlot, S., Schlegelberger, B., Steinemann, D.
Published in Medizinische Genetik (12.11.2014)
Published in Medizinische Genetik (12.11.2014)
Get full text
Journal Article
Massive parallele Sequenzierung in der Diagnostik hereditärer BRCA1-/-2-Mutationen
Auber, B., Heinecke, K., Morlot, S., Schlegelberger, B., Steinemann, D.
Published in Medizinische Genetik (17.07.2014)
Published in Medizinische Genetik (17.07.2014)
Get full text
Journal Article