Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

por Seifert, Wenke, Meinecke, Peter, Krüger, Gabriele, Rossier, Eva, Heinritz, Wolfram, Wüsthof, Achim, Horn, Denise
Publicado en BMC Med Genet (2014)

Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

por Wimplinger, Isabella, Morleo, Manuela, Rosenberger, Georg, Iaconis, Daniela, Orth, Ulrike, Meinecke, Peter, Lerer, Israela, Ballabio, Andrea, Gal, Andreas, Franco, Brunella, Kutsche, Kerstin
Publicado 2006

Microcephalic Osteodysplastic Primordial Dwarfism type I with biallelic mutations in the RNU4ATAC gene

por Nagy, Rebecca, Wang, Heng, Albrecht, Beate, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Haan, Eric, Meinecke, Peter, de la Chapelle, Albert, Westman, Judith A.
Publicado 2011

Single-channel properties of skeletal muscle ryanodine receptor pore Δ(4923)FF(4924) in two brothers with a lethal form of fetal akinesia

por Xu, Le, Harms, Frederike L., Chirasani, Venkat R., Pasek, Daniel A, Kortüm, Fanny, Meinecke, Peter, Dokholyan, Nikolay V., Kutsche, Kerstin, Meissner, Gerhard
Publicado en Cell Calcium (2020)

Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B

por Schwabe, Georg C., Tinschert, Sigrid, Buschow, Christian, Meinecke, Peter, Wolff, Gerhard, Gillessen-Kaesbach, Gabriele, Oldridge, Michael, Wilkie, Andrew O. M., Kömec, Reyhan, Mundlos, Stefan
Publicado 2000

Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome

por Lüdecke, Hermann-Josef, Johnson, Carey, Wagner, Michael J., Wells, Dan E., Turleau, Catherine, Tommerup, Niels, Latos-Bielenska, Anna, Sandig, Klaus-Rainer, Meinecke, Peter, Zabel, Bernhard, Horsthemke, Bernhard
Publicado 1991

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

por Dathe, Katarina, Kjaer, Klaus W., Brehm, Anja, Meinecke, Peter, Nürnberg, Peter, Neto, Jordao C., Brunoni, Decio, Tommerup, Nils, Ott, Claus E., Klopocki, Eva, Seemann, Petra, Mundlos, Stefan
Publicado 2009

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

por Harmsen, May-Britt, Azzarello-Burri, Silvia, García González, M Mar, Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Müller, Dietmar, Rauch, Anita, Rossier, Eva, Seemanova, Eva, Spaich, Christiane, Steiner, Bernhard, Wieczorek, Dagmar, Zenker, Martin, Kutsche, Kerstin
Publicado 2009

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

por Brownstein, Catherine A., Towne, Meghan C., Luquette, Lovelace J., Harris, David J., Marinakis, Nicholas S., Meinecke, Peter, Kutsche, Kerstin, Campeau, Philippe M., Yu, Timothy W., Margulies, David M., Agrawal, Pankaj B., Beggs, Alan H.
Publicado 2013

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

por Schneeberger, Pauline E., von Elsner, Leonie, Barker, Emma L., Meinecke, Peter, Marquardt, Iris, Alawi, Malik, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Zwijnenburg, Petra J.G., Weiss, Marjan M., Merry, Catherine L.R., Kutsche, Kerstin
Publicado en Am J Hum Genet (2020)

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

por Karaca, Ender, Posey, Jennifer E., Bostwick, Bret, Liu, Pengfei, Gezdirici, Alper, Yesil, Gozde, Akdemir, Zeynep Coban, Bayram, Yavuz, Harms, Frederike Leonie, Meinecke, Peter, Alawi, Malik, Bacino, Carlos A., Sutton, V. Reid, Kortum, Fanny, Lupski, James. R.
Publicado en Am J Med Genet A (2019)

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

por 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
Publicado 2007

Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

por Jae, Lucas T., Raaben, Matthijs, Riemersma, Moniek, van Beusekom, Ellen, Blomen, Vincent A., Velds, Arno, Kerkhoven, Ron. M., Carette, Jan E., Topaloglu, Haluk, Meinecke, Peter, Wessels, Marja W., Lefeber, Dirk J., Whelan, Sean P., van Bokhoven, Hans, Brummelkamp, Thijn R.
Publicado 2013

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, an...

por Pasutto, Francesca, Sticht, Heinrich, Hammersen, Gerhard, Gillessen-Kaesbach, Gabriele, FitzPatrick, David R., Nürnberg, Gudrun, Brasch, Frank, Schirmer-Zimmermann, Heidemarie, Tolmie, John L., Chitayat, David, Houge, Gunnar, Fernández-Martínez, Lorena, Keating, Sarah, Mortier, Geert, Hennekam, Raoul C. M., von der Wense, Axel, Slavotinek, Anne, Meinecke, Peter, Bitoun, Pierre, Becker, Christian, Nürnberg, Peter, Reis, André, Rauch, Anita
Publicado 2007

SOS1 is the second most common Noonan gene but plays no major role in cardio‐facio‐cutaneous syndrome

por Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, van der Burgt, Ineke, Doerr, Helmuth‐Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen‐Kaesbach, Gabriele, Koch, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, von Schnakenburg, Christian, Seidel, Heide, Wehner, Lars‐Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin
Publicado 2007

Next-generation sequencing in X-linked intellectual disability

por Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter
Publicado en Eur J Hum Genet (2015)