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There are 16272 results for: content related to: Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation

  1. Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 290–293, MI Khan, M Ajmal, S Micheal, M Azam, A Hussain, A Shahzad, H Venselaar, H Bokhari, IJ de Wijs, LH Hoefsloot, NK Waheed, RWJ Collin, AI den Hollander, R Qamar and FPM Cremers

    Article first published online : 7 NOV 2012, DOI: 10.1111/cge.12039

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

    Clinical Genetics

    JM Laffita-Mesa, LE Almaguer-Mederos, V Kourí, PO Bauer, Y Vázquez-Mojena, T Cruz Mariño and L Velázquez-Pérez

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

  3. Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 294–296, K Lee, I Chiu, RLP Santos-Cortez, S Basit, S Khan, Z Azeem, PB Andrade, SS Kim, W Ahmad and SM Leal

    Article first published online : 23 NOV 2012, DOI: 10.1111/cge.12047

  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. 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

  6. 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

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

    Clinical Genetics

    MC França Jr, DB Dogini, A D'Abreu, HAG Teive, RP Munhoz, S Raskin, A Moro, CC Melo, AP Gomes, JAM Saute, LB Jardim and I Lopes-Cendes

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

  8. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 86–90, C Thauvin-Robinet, S Thomas, M Sinico, B Aral, L Burglen, N Gigot, H Dollfus, S Rossignol, M Raynaud, C Philippe, C Badens, R Touraine, C Gomes, B Franco, E Lopez, N Elkhartoufi, L Faivre, A Munnich, N Boddaert, L Van Maldergem, F Encha-Razavi, S Lyonnet, M Vekemans, E Escudier and T Attié-Bitach

    Article first published online : 4 OCT 2012, DOI: 10.1111/cge.12013

  9. Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 390–392, S. Dad, E. Østergaard, K.A. Wadt, J. Lunding, H. Eiberg and L.B. Møller

    Article first published online : 29 APR 2013, DOI: 10.1111/cge.12161

  10. BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 94–96, C Fernandez-Rozadilla, A Brea-Fernández, X Bessa, C Álvarez-Urturi, A Abulí, J Clofent, A Payá, The EPICOLON Consortium, R Jover, R Xicola, X Llor, M Andreu, A Castells, Á Carracedo, S Castellví-Bel and C Ruiz-Ponte

    Article first published online : 12 OCT 2012, DOI: 10.1111/cge.12023

  11. 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

  12. 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

  13. Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 488–490, E Papari, M Bastami, A Farhadi, SS Abedini, M Hosseini, I Bahman, M Mohseni, M Garshasbi, L Abbasi Moheb, F Behjati, K Kahrizi, H-H Ropers and H Najmabadi

    Article first published online : 18 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01949.x

  14. 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

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

    Clinical Genetics

    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, RJ Scott and J Lubiński

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

  16. 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

  17. 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

  18. Novel SLC9A6 mutations in two families with Christianson syndrome

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 596–597, A Riess, E Rossier, R Krüger, A Dufke, S Beck-Woedl, V Horber, M Alber, D Gläser, O Riess and A Tzschach

    Article first published online : 30 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01948.x

  19. Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 491–493, J Muñoz-Muñoz, N Cuadrado-Grande, M-I Moreno-Carralero, B Hoyos-Sanabria, A Manubes-Guarch, A-F González, P Tejada-Palacios, A del-Castillo-Rueda and M-J Morán-Jiménez

    Article first published online : 13 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01934.x

  20. Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 585–587, A Vargas-Hernández, L Berrón-Ruiz, T Staines-Boone, MdC Zarate-Hernández, WO Córdova-Calderón, FJ Espinosa-Rosales and L Santos-Argumedo

    Article first published online : 10 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01953.x