Suchergebnisse

Type 1 diabetes in a patient with Ellis-van Creveld syndrome von Graziadio, Carla, Bernardi, Pricila, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola, Paskulin, Giorgio Adriano

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Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association von Bernardi, Pricila, Graziadio, Carla, Rosa, Rafael Fabiano Machado, Pfeil, Juliana Nunes, Zen, Paulo Ricardo Gazzola, Paskulin, Giorgio Adriano

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Clinical genetics and pathobiology of ciliary chondrodysplasias von Miriam Schmidts

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Type 1 diabetes in a patient with Ellis-van Creveld syndrome von Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome von Caroline Alby, Kevin Piquand, Céline Huber, André Mégarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traoré, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget‐Darpoux, Arnold Münnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier‐Daire, Tania Attié‐Bitach, Sophie Thomas

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The developing limb and the control of the number of digits von Ana Talamillo, Mf Bastida, Marian Fernandez‐Teran, M sup a sup Angeles Ros

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Joubert syndrome: genotyping a Northern European patient cohort von Hester Y. Kroes, Glen R. Monroe, Bert van der Zwaag, Karen Duran, Carolien G. F. de Kovel, Mark J. van Roosmalen, Magdaléna Harakaľová, Isaäc J. Nijman, Wigard P. Kloosterman, Rachel H. Giles, Nine Knoers, Gijs van Haaften

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Update on the Genetics of Bardet-Biedl Syndrome von O. M'hamdi, Inès Ouertani, Habiba Chaabouni-Bouhamed

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A Gene for Meckel Syndrome Maps to Chromosome 11q13 von J. Roume, Emmanuelle Génin, Valérie Cormier‐Daire, Hongqi Ma, Blandine Mehaye, Tania Attié‐Bitach, F. Razavi-Encha, Catherine Fallet‐Bianco, Annie Buénerd, Françoise Clerget‐Darpoux, Arnold Münnich, M. Le Merrer

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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 von Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine Leh, Marit Midtbø, Emilie Filhol, Christine Bôle‐Feysot, Patrick Nitschké, Christian Gilissen, Olav H. Haugen, Jan‐Stephan Sanders, Irene Stolte‐Dijkstra, Dorus A. Mans, Eric J. Steenbergen, Ben C.J. Hamel, Marie Matignon, Rolph Pfundt, Marc Jeanpierre, Helge Boman, Eyvind Rødahl, Joris A. Veltman, Per M. Knappskog, Nine Knoers, Ronald Roepman, Heleen H. Arts

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Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes* von Xiaoping Zhou, K Woodford-Richens, Rainer Lehtonen, Keisuke Kurose, Micheala A. Aldred, Heather Hampel, Virpi Launonen, Sanno Virta, Robert Pilarski, Reijo Salovaara, Walter F. Bodmer, Beth A. Conrad, Malcolm G. Dunlop, Shirley V. Hodgson, Takeo Iwama∥, Heikki Järvinen, Ilmo Kellokumpu, J‐H Kim, Barbara Leggett, David Markie, Jukka‐Pekka Mecklin, Kay Neale, Robin Phillips, J Piris, Paul Rozen, Richard S. Houlston, Lauri A. Aaltonen, Ian Tomlinson, Charis Eng

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Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient. von Denise P. Cavalcanti

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Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals von Sabine Janssen, Gokul Ramaswami, Erica E. Davis, Toby W. Hurd, Rannar Airik, J. M. Kasanuki, Lauren Van Der Kraak, Susan J. Allen, Philip L. Beales, Nicholas Katsanis, Edgar A. Otto, Friedhelm Hildebrandt

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Ciliary Genes<i>TBC1D32</i>/<i>C6orf170</i>and<i>SCLT1</i>are Mutated in Patients with OFD Type IX von Nouran Adly, Amal Alhashem, Amer Ammari, Fowzan S. Alkuraya

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Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study von Susan Moore, Jane S. Green, Yanli Fan, Ashvinder K. Bhogal, Elizabeth Dicks, Bridget A. Fernandez, Mark Stefanelli, Christopher Murphy, B. Cramer, John Dean, Philip L. Beales, Nicholas Katsanis, Anne S. Bassett, William S. Davidson, Patrick S. Parfrey

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Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60 von Aideen M. McInerney‐Leo, Miriam Schmidts, Claudio R. Cortés, Paul Leo, Blanca Gener, Andrew D. Courtney, Brooke Gardiner, Jessica Harris, Yeping Lu, Mhairi Marshall, Peter Scambler, Philip L. Beales, Matthew A. Brown, Andreas Zankl, Hannah M. Mitchison, Emma L. Duncan, Carol Wicking

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Congenital malformations in twins in England and Wales. von Pat Doyle, Valerie Beral, Beverley Botting, Christopher Wale

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BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance von Nicholas Katsanis, Erica R. Eichers, Stephen J. Ansley, Richard A. Lewis, Hülya Kayserili, Bethan E. Hoskins, Peter Scambler, Philip L. Beales, James R. Lupski

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Congenital limb anomalies: frequency and aetiological factors: Data from the Edinburgh Register of the Newborn (1964-68) von Eugene Rogala, R Wynne-Davies, A. Littlejohn, J. Gormley

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Molecular basis of the obesity associated with Bardet–Biedl syndrome von Deng‐Fu Guo, Kamal Rahmouni

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