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There are 6520 results for: content related to: Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene

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

    Clinical Genetics

    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

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

    Clinical Genetics

    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

  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. Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration

    Clinical Genetics

    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. 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

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

    Clinical Genetics

    S Thakur, A Kumar, S Dubey, R Saxena, ANC Peters and A Singhal

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

  8. 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

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

    Clinical Genetics

    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

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

    Clinical Genetics

    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

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

    Clinical Genetics

    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

  12. 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

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

    Clinical Genetics

    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

  14. 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

  15. 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

  16. Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS

    Clinical Genetics

    M Masciullo, G Silvestri, A Modoni, A Tessa, MLE Bianchi and FM Santorelli

    Article first published online : 25 OCT 2013, DOI: 10.1111/cge.12295

  17. Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 96–98, J.M. Laffita-Mesa, L.E. Almaguer-Mederos, V. Kourí, P.O. Bauer, Y. Vázquez-Mojena, T. Cruz Mariño and L. Velázquez-Pérez

    Article first published online : 18 JUL 2013, DOI: 10.1111/cge.12221

  18. Frequency of DMPK mutation carriers in Korean women of childbearing age

    Clinical Genetics

    J-H Jang, JW Lee, E-H Cho, E-H Lee, J-W Kim and C-S Ki

    Article first published online : 26 NOV 2013, DOI: 10.1111/cge.12310

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

    Clinical Genetics

    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

  20. Pregnancy in an individual with mild Smith–Lemli–Opitz syndrome

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 495–497, M.S. Ellingson, M.J. Wick, W.M. White, K.M. Raymond, A.K. Saenger, P.N. Pichurin, C.A. Wassif, F.D. Porter and D. Babovic-Vuksanovic

    Article first published online : 24 JUN 2013, DOI: 10.1111/cge.12209