Hutchinson-Gilford progeria syndrome: Review of the phenotype von Hennekam, Raoul C.M.

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Peters Plus Syndrome Is a New Congenital Disorder of Glycosylation and Involves Defective O-Glycosylation of Thrombospondin Type 1 Repeats von Hess, Daniel, Keusch, Jeremy J., Oberstein, Saskia A. Lesnik, Hennekam, Raoul C.M., Hofsteenge, Jan

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Holoprosencephaly due to mutations in ZIC2 , a homologue of Drosophila odd-paired von Brown, Stephen A, Warburton, Dorothy, Brown, Lucia Y, Yu, Chih-yu, Roeder, Elizabeth R, Stengel-Rutkowski, Sabine, Hennekam, Raoul C.M, Muenke, Maximilian

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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis von Bennett, James T., Tan, Tiong Yang, Alcantara, Diana, Tétrault, Martine, Timms, Andrew E., Jensen, Dana, Collins, Sarah, Nowaczyk, Malgorzata J.M., Lindhurst, Marjorie J., Christensen, Katherine M., Braddock, Stephen R., Brandling-Bennett, Heather, Hennekam, Raoul C.M., Chung, Brian, Lehman, Anna, Su, John, Ng, SuYuen, Amor, David J., Majewski, Jacek, Biesecker, Les G., Boycott, Kym M., Dobyns, William B., O’Driscoll, Mark, Moog, Ute, McDonell, Laura M.

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Cantú Syndrome Is Caused by Mutations in ABCC9 von van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., Hoischen, Alexander

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Etiology of nonimmune hydrops fetalis: A systematic review von Bellini, Carlo, Hennekam, Raoul C.M., Fulcheri, Ezio, Rutigliani, Mariangela, Morcaldi, Guido, Boccardo, Francesco, Bonioli, Eugenio

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Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis von Lacombe, Didier, David, Albert, Jeffs, Aaron, Bohring, Axel, Tchan, Michel, Wilson, Louise C, Pearl, Esther, Cormier-Daire, Valérie, Hing, Anne V, Adès, Lesley C, Stewart, Fiona, Porteous, Mary E, Garcia-Miñaur, Sixto, Robertson, Stephen P, Jenkins, Zandra A, Fukuzawa, Ryuji, Hennekam, Raoul C M, Morgan, Tim, Bindoff, Laurence, Donnai, Dian, Fiskerstrand, Torunn, Mansour, Sahar, Berland, Siren, Thaller, Christina, van Kogelenberg, Margriet

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Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene von Kuilenburg, André B.P. van, Meijer, Judith, Tanck, Michael W.T., Dobritzsch, Doreen, Zoetekouw, Lida, Dekkers, Lois-Lee, Roelofsen, Jeroen, Meinsma, Rutger, Wymenga, Machteld, Kulik, Wim, Büchel, Barbara, Hennekam, Raoul C.M., Largiadèr, Carlo R.

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Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing von van Kuilenburg, André B.P., Meijer, Judith, Maurer, Dirk, Dobritzsch, Doreen, Meinsma, Rutger, Los, Maartje, Knegt, Lia C., Zoetekouw, Lida, Jansen, Rob L.H., Dezentjé, Vincent, van Huis-Tanja, Lieke H., van Kampen, Roel J.W., Hertz, Jens Michael, Hennekam, Raoul C.M.

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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway von Cliffe, Simon T., Kramer, Jamie M., Hussain, Khalid, Robben, Joris H., de Jong, Eiko K., de Brouwer, Arjan P., Nibbeling, Esther, Kamsteeg, Erik-Jan, Wong, Melanie, Prendiville, Julie, James, Chela, Padidela, Raja, Becknell, Charlie, van Bokhoven, Hans, Deen, Peter M.T., Hennekam, Raoul C.M., Lindeman, Robert, Schenck, Annette, Roscioli, Tony, Buckley, Michael F.

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Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene von Twigg, Stephen R.F., Versnel, Sarah L., Nürnberg, Gudrun, Lees, Melissa M., Bhat, Meenakshi, Hammond, Peter, Hennekam, Raoul C.M., Hoogeboom, A. Jeannette M., Hurst, Jane A., Johnson, David, Robinson, Alexis A., Scambler, Peter J., Gerrelli, Dianne, Nürnberg, Peter, Mathijssen, Irene M.J., Wilkie, Andrew O.M.

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Elements of morphology: Introduction von Allanson, Judith E., Biesecker, Leslie G., Carey, John C., Hennekam, Raoul C.M.

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Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors von Navarro, Claire L., Cadiñanos, Juan, Sandre-Giovannoli, Annachiara De, Bernard, Rafaëlle, Courrier, Sébastien, Boccaccio, Irène, Boyer, Amandine, Kleijer, Wim J., Wagner, Anja, Giuliano, Fabienne, Beemer, Frits A., Freije, Jose M., Cau, Pierre, Hennekam, Raoul C.M., López-Otín, Carlos, Badens, Catherine, Lévy, Nicolas

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Severe Cenani-Lenz syndrome caused by loss of LRP4 function von Kariminejad, Ariana, Stollfuß, Barbara, Li, Yun, Bögershausen, Nina, Boss, Karin, Hennekam, Raoul C.M., Wollnik, Bernd

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The Cardiac Phenotype in Patients With a CHD7 Mutation von Corsten-Janssen, Nicole, Kerstjens-Frederikse, Wilhelmina S, du Marchie Sarvaas, Gideon J, Baardman, Maria E, Bakker, Marian K, Bergman, Jorieke E.H, Hove, Hanne D, Heimdal, Ketil R, Rustad, Cecilie F, Hennekam, Raoul C.M, Hofstra, Robert M.W, Hoefsloot, Lies H, Van Ravenswaaij-Arts, Conny M.A, Kapusta, Livia

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Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size von Bond, Jacquelyn, Scott, Sheila, Hampshire, Daniel J., Springell, Kelly, Corry, Peter, Abramowicz, Marc J., Mochida, Ganesh H., Hennekam, Raoul C.M., Maher, Eamonn R., Fryns, Jean-Pierre, Alswaid, Abdulrahman, Jafri, Hussain, Rashid, Yasmin, Mubaidin, Ammar, Walsh, Christopher A., Roberts, Emma, Woods, C. Geoffrey

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The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients von Hopman, Saskia M.J, Merks, Johannes H.M, de Borgie, Corianne A.J.M, Aalfs, Cora M, Biesecker, Leslie G, Cole, Trevor, Eng, Charis, Legius, Eric, Maher, Eamonn R, van Noesel, Max M, Verloes, Alain, Viskochil, David H, Wagner, Anja, Weksberg, Rosanna, Caron, Huib N, Hennekam, Raoul C.M

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Elements of morphology: Standard terminology for the nose and philtrum von Hennekam, Raoul C.M., Cormier-Daire, Valerie, Hall, Judith G., Méhes, Károly, Patton, Michael, Stevenson, Roger E.

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Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome von Celli, Jacopo, Duijf, Pascal, Hamel, Ben C.J, Bamshad, Michael, Kramer, Bridget, Smits, Arie P.T, Newbury-Ecob, Ruth, Hennekam, Raoul C.M, Van Buggenhout, Griet, van Haeringen, Arie, Woods, C.Geoffrey, van Essen, Anthonie J, de Waal, Rob, Vriend, Gert, Haber, Daniel A, Yang, Annie, McKeon, Frank, Brunner, Han G, van Bokhoven, Hans

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Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria von van Haelst, Mieke M., Scambler, Peter J., Hennekam, Raoul C.M.

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