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There are 8614 results for: content related to: Cleft lip/palate associated with 17p13.3 duplication involving a single candidate gene ( YWHAE )

  1. 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

  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. A novel deletion to normal size in the sperm of a fragile X full mutation male

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 295–297, S. Luo, W. Huang, C. Chen, Q. Pan, R. Duan and L. Wu

    Article first published online : 23 OCT 2013, DOI: 10.1111/cge.12287

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. Comprehensive genetic testing can save lives in hereditary hearing loss

    Clinical Genetics

    Volume 87, Issue 2, February 2015, Pages: 190–191, D. Tekin, E. Tutar, H. Ozturkmen Akay, S. Blanton, J. Foster II and M. Tekin

    Article first published online : 2 APR 2014, DOI: 10.1111/cge.12376

  12. 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

  13. Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

    Clinical Genetics

    S. Spena, D. Milani, D. Rusconi, G. Negri, P. Colapietro, N. Elcioglu, F. Bedeschi, A. Pilotta, L. Spaccini, A. Ficcadenti, C. Magnani, G. Scarano, A. Selicorni, L. Larizza and C. Gervasini

    Article first published online : 9 DEC 2014, DOI: 10.1111/cge.12537

  14. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 155–160, B.D. Webb, T. Brandt, L. Liu, C. Jalas, J. Liao, A. Fedick, M.D. Linderman, G.A. Diaz, R. Kornreich, H. Trachtman, L. Mehta and L. Edelmann

    Article first published online : 2 SEP 2013, DOI: 10.1111/cge.12247

  15. 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

  16. You have free access to this content
    Biobanks and personalized medicine

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 50–55, J.E. Olson, S.J. Bielinski, E. Ryu, E.M. Winkler, P.Y. Takahashi, J. Pathak and J.R. Cerhan

    Article first published online : 27 MAR 2014, DOI: 10.1111/cge.12370

  17. 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

  18. 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

  19. 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

  20. 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