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There are 9126 results for: content related to: Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

  1. Lynch syndrome mutations shared by the Baltic States and Poland

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 190–193, D. Dymerska, G. Kurzawski, J. Suchy, H. Roomere, K. Toome, A. Metspalu, R. Janavičius, P. Elsakov, A. Irmejs, D. Berzina, E. Miklaševičs, J. Gardovskis, E. Rebane, M. Kelve, J. Kładny, T. Huzarski, J. Gronwald, T. Dębniak, T. Byrski, A. Stembalska, D. Surdyka, M. Siołek, M. Szwiec, Z. Banaszkiewicz, R. Wiśniowski, E. Kilar, R.J. Scott and J. Lubiński

    Article first published online : 5 SEP 2013, DOI: 10.1111/cge.12251

  2. Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 496–498, E. Tham, G. Nishimura, S. Geiberger, E. Horemuzova, D. Nilsson, A. Lindstrand, A. Hammarsjö, M. Armenio, O. Mäkitie, B. Zabel, A. Nordgren, M. Nordenskjöld and G. Grigelioniene

    Article first published online : 8 SEP 2014, DOI: 10.1111/cge.12466

  3. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 595–597, C. Baquero-Montoya, M.C. Gil-Rodríguez, D. Braunholz, M.E. Teresa-Rodrigo, C. Obieglo, B. Gener, T. Schwarzmayr, T.M. Strom, P. Gómez-Puertas, B. Puisac, G. Gillessen-Kaesbach, A. Musio, F.J. Ramos, F.J. Kaiser and J. Pié

    Article first published online : 26 JAN 2014, DOI: 10.1111/cge.12333

  4. Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 99–101, S. Assereto, A. Robbiano, M. Di Rocco, A. Rossi, D. Cassandrini, C. Panicucci, G. Brigati, R. Biancheri, C. Bruno, C. Minetti, H. Trucks, T. Sander, F. Zara and E. Gazzerro

    Article first published online : 11 SEP 2013, DOI: 10.1111/cge.12248

  5. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 396–398, K. Nakamura, M. Kato, J. Tohyama, T. Shiohama, K. Hayasaka, K. Nishiyama, H. Kodera, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto and H. Saitsu

    Article first published online : 9 JUN 2013, DOI: 10.1111/cge.12188

  6. You have free access to this content
    Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 93–95, L.-Y. Ma, L. Wang, Y.-M. Yang, Y. Lu, F.-B. Cheng and X.-H. Wan

    Article first published online : 1 APR 2014, DOI: 10.1111/cge.12341

  7. Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

    Clinical Genetics

    D. Oz-Levi, B. Weiss, A. Lahad, S. Greenberger, B. Pode-Shakked, R. Somech, T. Olender, P. Tatarsky, D. Marek-Yagel, E. Pras, Y. Anikster and D. Lancet

    Article first published online : 21 OCT 2014, DOI: 10.1111/cge.12494

  8. A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

    Clinical Genetics

    Volume 87, Issue 2, February 2015, Pages: 196–198, J.W. Yun, K.I. Jo, H.I. Woo, S.-Y. Lee, C.-S. Ki, J.-W. Kim, J. Song, D.H. Lee, Y.-W. Lee and H.-D. Park

    Article first published online : 21 FEB 2014, DOI: 10.1111/cge.12350

  9. Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4

    Clinical Genetics

    Takamichi Kanbayashi, Fumiaki Saito, Takashi Matsukawa, Hiroshi Oba, Keiichi Hokkoku, Yuki Hatanaka, Shoji Tsuji and Masahiro Sonoo

    Article first published online : 20 JAN 2015, DOI: 10.1111/cge.12554

  10. Germline TP53 mutations is common in patients with two early-onset primary malignancies

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 499–501, B. P. Chak, E. S. Chan, J. H. Tong, A. W. Leung, F. W. Cheng, G. K. Lam, M. M. Shing, C. K. Li and K. F. To

    Article first published online : 7 OCT 2014, DOI: 10.1111/cge.12480

  11. Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

    Clinical Genetics

    Volume 87, Issue 4, April 2015, Pages: 395–397, S. Miyatake, H. Tada, S. Moriya, J. Takanashi, Y. Hirano, M. Hayashi, Y. Oya, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto and H. Saitsu

    Article first published online : 8 SEP 2014, DOI: 10.1111/cge.12455

  12. Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 500–501, S.M. Wakil, D.M. Monies, K. Ramzan, S. Hagos, L. Bastaki, B.F. Meyer and S. Bohlega

    Article first published online : 27 NOV 2013, DOI: 10.1111/cge.12312

  13. Overview of Bardet–Biedl syndrome in Spain: identification of novel mutations in BBS1,BBS10 and BBS12 genes

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 601–602, M. Álvarez-Satta, S. Castro-Sánchez, I. Pereiro, T. Piñeiro-Gallego, M. Baiget, C. Ayuso and D. Valverde

    Article first published online : 26 JAN 2014, DOI: 10.1111/cge.12334

  14. Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 197–198, E. Piccinno, F. Ortolani, M. Vendemiale, A. Tummolo, M. Masciopinto, M.P. Natale, A. De Luca, E. Agolini, C. Aloi, A. Salina, G. D'Annunzio, R. Fischetto and F. Papadia

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12260

  15. A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

    Clinical Genetics

    Volume 87, Issue 2, February 2015, Pages: 192–195, K.O. Yariz, Y.B. Sakalar, X. Jin, J. Hertz, E.F. Sener, H. Akay, M.N. Özbek, A. Farooq, J. Goldberg and M. Tekin

    Article first published online : 7 APR 2014, DOI: 10.1111/cge.12374

  16. Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 598–599, C. Collet, J.-L. Alessandri, E. Arnaud, M. Balu, V.C. Daire and F. Di Rocco

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12213

  17. Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot–Marie–Tooth neuropathy

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 592–594, Y.S. Hyun, H.J. Park, S.-H. Heo, B.R. Yoon, S.H. Nam, S.-B. Kim, C.I. Park, B.-O. Choi and K.W. Chung

    Article first published online : 20 DEC 2013, DOI: 10.1111/cge.12327

  18. Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 598–600, M. He, B.-S. Tang, N. Li, X. Mao, J. Li, J.-G. Zhang, J.-J. Xiao, J. Wang, H. Jiang, L. Shen, J.-F. Guo, K. Xia and J.-L. Wang

    Article first published online : 13 MAR 2014, DOI: 10.1111/cge.12338

  19. You have full text access to this OnlineOpen article
    Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 90–92, K.-E. Lee, J. Ko, C.G. Tran Le, T.J. Shin, H.-K. Hyun, S.-H. Lee and J.-W. Kim

    Article first published online : 4 FEB 2014, DOI: 10.1111/cge.12340

  20. Somatic mosaicism for a FOXG1 mutation: diagnostic implication

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 589–591, B. Diebold, C. Délepine, J. Nectoux, N. Bahi-Buisson, P. Parent and T. Bienvenu

    Article first published online : 24 JUN 2013, DOI: 10.1111/cge.12212