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There are 7839656 results for: content related to: Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum

  1. 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

    Version of Record online : 8 SEP 2014, DOI: 10.1111/cge.12455

  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

    Version of Record online : 8 SEP 2014, DOI: 10.1111/cge.12466

  3. 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

    Version of Record online : 20 DEC 2013, DOI: 10.1111/cge.12327

  4. A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 510–511, K. Nikopoulos, G. U. Butt, P. Farinelli, M. Mudassar, E. Domènech-Estévez, C. Samara, M. Kausar, I. Masroor, R. Chrast, C. Rivolta and S. Siddiqi

    Version of Record online : 18 AUG 2015, DOI: 10.1111/cge.12645

  5. Genetic causes of MCPH in consanguineous Pakistani families

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 744–745, Nadine Kraemer, Sylvie Picker-Minh, Ansar A. Abbasi, Sebastian Fröhler, Olaf Ninnemann, Muhammad N. Khan, Ghazanfar Ali, Wei Chen and Angela M. Kaindl

    Version of Record online : 8 NOV 2015, DOI: 10.1111/cge.12685

  6. 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

    Version of Record online : 27 JUN 2013, DOI: 10.1111/cge.12205

  7. 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

    Version of Record online : 5 DEC 2013, DOI: 10.1111/cge.12289

  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

    Version of Record online : 21 FEB 2014, DOI: 10.1111/cge.12350

  9. 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

    Version of Record online : 5 SEP 2013, DOI: 10.1111/cge.12251

  10. 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

    Version of Record online : 11 SEP 2013, DOI: 10.1111/cge.12248

  11. 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

    Version of Record online : 7 NOV 2012, DOI: 10.1111/cge.12039

  12. Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 593–596, V.A. Meloni, M. Moysés-Oliveira, M.C.C. Melo, T.P. Caneloi, A.G. Dantas, M.F.F. Soares, R. Fock, P.D. Rodrigues de Nicola, M.R. Dias-da-Silva and M.I. Melaragno

    Version of Record online : 11 MAY 2015, DOI: 10.1111/cge.12595

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

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 296–298, 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

    Version of Record online : 30 JUL 2014, DOI: 10.1111/cge.12445

  14. Early onset dystonia and parkinsonism with abnormal globus pallidal signal in MRI: A diagnostic challenge

    Movement Disorders

    Volume 28, Issue 14, December 2013, Pages: 2035–2036, Bart Post, Martine van Belzen, Carlo Marcelis, Frederick J. A. Meijer, Michel A. Willemsen and Bart P. van de Warrenburg

    Version of Record online : 3 SEP 2013, DOI: 10.1002/mds.25622

  15. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 539–545, P Makrythanasis, BW van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, BM Anderlid, P Arts, M Bhat, B Augello, E Biamino, EMHF Bongers, M del Campo, I Cordeiro, AM Cueto-González, I Cuscó, C Deshpande, E Frysira, L Izatt, R Flores, E Galán, B Gener, C Gilissen, SM Granneman, J Hoyer, HG Yntema, CM Kets, DA Koolen, CL Marcelis, A Medeira, L Micale, S Mohammed, SA de Munnik, A Nordgren, S Psoni, W Reardon, N Revencu, T Roscioli, M Ruiterkamp-Versteeg, HG Santos, J Schoumans, JHM Schuurs-Hoeijmakers, MC Silengo, L Toledo, T Vendrell, I van der Burgt, B van Lier, C Zweier, A Reymond, RC Trembath, L Perez-Jurado, J Dupont, BBA de Vries, HG Brunner, JA Veltman, G Merla, SE Antonarakis and A Hoischen

    Version of Record online : 26 APR 2013, DOI: 10.1111/cge.12081

  16. Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 598–599, N Dharajiya, KM Chisholm, L Dietz, C Sue Richards, M Kharrazi and I Schrijver

    Version of Record online : 28 SEP 2012, DOI: 10.1111/cge.12012

  17. 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

    Version of Record online : 12 OCT 2012, DOI: 10.1111/cge.12023

  18. SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 388–391, ND Rendtorff, I Schrijver, M Lodahl, J Rodriguez-Paris, T Johnsen, EC Hansén, LAA Nickelsen, Z Tümer, T Fagerheim, R Wetke and L Tranebjærg

    Version of Record online : 22 JAN 2013, DOI: 10.1111/cge.12074

  19. 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

    Version of Record online : 9 JUN 2013, DOI: 10.1111/cge.12188

  20. Beckwith–Wiedemann syndrome: first epigenetic confirmed case report in China

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 603–604, T Zhang, X Xie, D Xu, W Lu, C Dong, R Liu, T Yang, X Wang, Y An and H Yu

    Version of Record online : 5 APR 2013, DOI: 10.1111/cge.12096