De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype von Roifman, M., Marcelis, C.L.M., Paton, T., Marshall, C., Silver, R., Lohr, J.L., Yntema, H.G., Venselaar, H., Kayserili, H., van Bon, B., Seaward, G., Brunner, H.G., Chitayat, D.

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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis von Dinckan, N., Du, R., Petty, L.E., Coban-Akdemir, Z., Jhangiani, S.N., Paine, I., Baugh, E.H., Erdem, A.P., Kayserili, H., Doddapaneni, H., Hu, J., Muzny, D.M., Boerwinkle, E., Gibbs, R.A., Lupski, J.R., Uyguner, Z.O., Below, J.E., Letra, A.

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Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes von Bartholdi, D, Krajewska-Walasek, M, Õunap, K, Gaspar, H, Chrzanowska, K H, Ilyana, H, Kayserili, H, Lurie, I W, Schinzel, A, Baumer, A

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Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling von Toksoy, G, Durmus, H, Aghayev, A, Bagirova, G, Sevinc Rustemoglu, B, Basaran, S, Avci, S, Karaman, B, Parman, Y, Altunoglu, U, Yapici, Z, Tekturk, P, Deymeer, F, Topaloglu, H, Kayserili, H, Oflazer-Serdaroglu, P, Uyguner, ZO

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Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping von Harville, H M, Held, S, Diaz-Font, A, Davis, E E, Diplas, B H, Lewis, R A, Borochowitz, Z U, Zhou, W, Chaki, M, MacDonald, J, Kayserili, H, Beales, P L, Katsanis, N, Otto, E, Hildebrandt, F

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Array-comparative genomic hybridization results in clinically affected cases with apparently balanced chromosomal rearrangements von Satkin, NB, Karaman, B, Ergin, S, Kayserili, H, Kalelioglu, IH, Has, R, Yuksel, A, Basaran, S

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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome von Czeschik, J. C., Voigt, C., Alanay, Y., Albrecht, B., Avci, S., FitzPatrick, D., Goudie, D. R., Hehr, U., Hoogeboom, A. J., Kayserili, H., Simsek-Kiper, P. O., Klein-Hitpass, L., Kuechler, A., López-González, V., Martin, M., Rahmann, S., Schweiger, B., Splitt, M., Wollnik, B., Lüdecke, H. -J., Zeschnigk, M., Wieczorek, D.

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Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology von Elouej, Sahar, Harhouri, Karim, Le Mao, Morgane, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

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A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B von Bland, P.J., Chronnell, C., Plagnol, V., Kayserili, H., Kelsell, D.P.

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Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation von Willaert, A, Malfait, F, Symoens, S, Gevaert, K, Kayserili, H, Megarbane, A, Mortier, G, Leroy, J G, Coucke, P J, De Paepe, A

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Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III von Lüdecke, H.-J., Schaper, J., Meinecke, P., Momeni, P., Groß, S., von Holtum, D., Hirche, H., Abramowicz, M.J., Albrecht, B., Apacik, C., Christen, H.-J., Claussen, U., Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T.H.J., Greiwe, M., Hamm, H., Hennekam, R.C.M., Hinkel, G.K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A.T., Moog, U., Nagai, T., Niikawa, N., Ørstavik, K.H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjærg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B.

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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families von HANNA, R. M, MARSH, S. E, BOGLARKA, B, DIETRICH, R. B, DOBYNS, W. B, TRUWIT, C. L, SATTAR, S, CHUANG, N. A, SHERR, E. H, GLEESON, J. G, SWISTUN, D, AL-GAZALI, L, ZAKI, M. S, ABDEL-SALAM, G. M, AL-TAWARI, A, BASTAKI, L, KAYSERILL, H, RAJAB, A

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Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes... von Vega, H, Trainer, A H, Gordillo, M, Crosier, M, Kayserili, H, Skovby, F, Uzielli, M L Giovannucci, Schnur, R E, Manouvrier, S, Blair, E, Hurst, J A, Forzano, F, Meins, M, Simola, K O J, Raas-Rothschild, A, Hennekam, R C M, Jabs, E Wang

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Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases von Furuichi, T, Kayserili, H, Hiraoka, S, Nishimura, G, Ohashi, H, Alanay, Y, Lerena, J C, Aslanger, A D, Koseki, H, Cohn, D H, Superti-Furga, A, Unger, S, Ikegawa, S

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OP18.09: The association of prenatally diagnosed cardiac rhabdomyoma and tuberosclerosis complex: a dismal combination? von Sarac Sivrikoz, T., Has, R., Kalelioglu, I.H., Corbacioglu Esmer, A., Kayserili, H., Yuksel, A., Ibrahimoglu, L., Yildirim, A., Ermis, H.

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P1023: Clinical and electrophysiologic findings in Schwartz-Jampel syndrome von Baysal Kirac, L, Kocasoy Orhan, E, Baslo, M.B, Altunoglu, U, Kayserili, H, Oge, A.E, Yazıcı, J, Nicole, S

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Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome von Uzumcu, A, Norgett, E E, Dindar, A, Uyguner, O, Nisli, K, Kayserili, H, Sahin, S E, Dupont, E, Severs, N J, Leigh, I M, Yuksel-Apak, M, Kelsell, D P, Wollnik, B

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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type von VAN MALDERGEM, L, YUKSEL-APAK, M, JAEKEN, J, MUNDLOS, S, DOBYNS, W. B, KAYSERILI, H, SEEMANOVA, E, GIURGEA, S, BASEL-VANAGAITE, L, LEAO-TELES, E, VIGNERON, J, FOULON, M, GREALLY, M

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Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology von Elouej, Sahar, Harhouri, Karim, Mao, Morgane Le, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

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Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations von Alders, M., Mendola, A., Adès, L., Al Gazali, L., Bellini, C., Dallapiccola, B., Edery, P., Frank, U., Hornshuh, F., Huisman, S.A., Jagadeesh, S., Kayserili, H., Keng, W.T., Lev, D., Prada, C.E., Sampson, J.R., Schmidtke, J., Shashi, V., van Bever, Y., Van der Aa, N., Verhagen, J.M., Verheij, J.B., Vikkula, M., Hennekam, R.C.

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