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There are 6377 results for: content related to: Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

  1. 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

  2. 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

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

    Clinical Genetics

    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

  5. 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

  6. 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

  7. Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan

    Clinical Genetics

    J.B. Vincent, T. Jamil, M.A. Rafiq, Z. Anwar, M. Ayaz, A. Hameed, T. Nasr, F. Naeem, N.A. Khattak, M. Carter, I. Ahmed, P. John, E. Wiame, D.M. Andrade, E.V. Schaftingen, A. Mir and M. Ayub

    Article first published online : 30 JUL 2014, DOI: 10.1111/cge.12445

  8. 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

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    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

  10. Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 393–395, S. Donkervoort, J. Dastgir, Y. Hu, W.M. Zein, H. Marks, C. Blackstone and C.G. Bönnemann

    Article first published online : 10 JUN 2013, DOI: 10.1111/cge.12185

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

    Clinical Genetics

    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. A novel mutation of the leptin gene in an Indian patient

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 391–393, S. Thakur, A. Kumar, S. Dubey, R. Saxena, A.N.C. Peters and A. Singhal

    Article first published online : 5 DEC 2013, DOI: 10.1111/cge.12289

  13. 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

  14. SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 194–196, M.C. França Jr, D.B. Dogini, A. D'Abreu, H.A.G. Teive, R.P. Munhoz, S. Raskin, A. Moro, C.C. Melo, A.P. Gomes, J.A.M. Saute, L.B. Jardim and I. Lopes-Cendes

    Article first published online : 5 SEP 2013, DOI: 10.1111/cge.12252

  15. Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II

    Clinical Genetics

    B. Singleton, D. Bansal, N. Varma, R. Das, S. Naseem, U.N. Saikia, P. Malhotra, S. Varma, R.K. Marwaha, M.-J. King and M. Ahmed

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12527

  16. Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 589–591, J. Foster II, S. Kapoor, O. Diaz-Horta, A. Singh, C. Abad, A. Rastogi, R. Moharana, O. Tekeli, K. Walz and M. Tekin

    Article first published online : 27 DEC 2013, DOI: 10.1111/cge.12321

  17. 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

  18. Expanding the clinical spectrum and allelic heterogeneity in van den Ende–Gupta syndrome

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 492–494, N. Patel, M.A. Salih, M.J. Alshammari, F. Abdulwahhab, N. Adly, F. Alzahrani, E.A. Elgamal, H.Y. Elkhashab, M. Al-Qattan and F.S. Alkuraya

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12205

  19. Severe combined immunodeficiency: first report of a de novo mutation in the IL2RG gene in a boy conceived by in vitro fertilization

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 500–501, M.R. Moya-Quiles, M.V. Bernardo-Pisa, A. Menasalvas, S. Alfayate, J.L. Fuster, F. Boix, G. Salgado, M. Muro, A. Minguela, M.R. Álvarez-López and A.M. García-Alonso

    Article first published online : 24 JUN 2013, DOI: 10.1111/cge.12208

  20. 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