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There are 10069 results for: content related to: Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children

  1. Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 448–454, C. Saint-Martin, Q. Zhou, G.M. Martin, C. Vaury, G. Leroy, J.-B. Arnoux, P. de Lonlay, S.-L. Shyng and C. Bellanné-Chantelot

    Version of Record online : 6 JUN 2014, DOI: 10.1111/cge.12428

  2. The genetics of type 2 diabetes and its clinical relevance

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 297–306, A Pal and MI McCarthy

    Version of Record online : 4 DEC 2012, DOI: 10.1111/cge.12055

  3. 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

  4. Molecular genetic analysis of 30 families with Joubert syndrome

    Clinical Genetics

    Volume 90, Issue 6, December 2016, Pages: 526–535, T. Suzuki, N. Miyake, Y. Tsurusaki, N. Okamoto, A. Alkindy, A. Inaba, M. Sato, S. Ito, K. Muramatsu, S. Kimura, D. Ieda, S. Saitoh, M. Hiyane, H. Suzumura, K. Yagyu, H. Shiraishi, M. Nakajima, N. Fueki, Y. Habata, Y. Ueda, Y. Komatsu, K. Yan, K. Shimoda, Y. Shitara, S. Mizuno, K. Ichinomiya, K. Sameshima, Y. Tsuyusaki, K. Kurosawa, Y. Sakai, K. Haginoya, Y. Kobayashi, C. Yoshizawa, M. Hisano, M. Nakashima, H. Saitsu, S. Takeda and N. Matsumoto

    Version of Record online : 26 SEP 2016, DOI: 10.1111/cge.12836

  5. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 630–635, M. Lefebvre, D. Sanlaville, N. Marle, C. Thauvin-Robinet, E. Gautier, S.E. Chehadeh, A.-L. Mosca-Boidron, J. Thevenon, P. Edery, M.-P. Alex-Cordier, M. Till, S. Lyonnet, V. Cormier-Daire, J. Amiel, A. Philippe, S. Romana, V. Malan, A. Afenjar, S. Marlin, S. Chantot-Bastaraud, P. Bitoun, B. Heron, E. Piparas, F. Morice-Picard, S. Moutton, N. Chassaing, A. Vigouroux-Castera, J. Lespinasse, S. Manouvrier-Hanu, O. Boute-Benejean, C. Vincent-Delorme, F. Petit, N.L. Meur, M. Marti-Dramard, A.-M. Guerrot, A. Goldenberg, S. Redon, C. Ferrec, S. Odent, C.L. Caignec, S. Mercier, B. Gilbert-Dussardier, A. Toutain, S. Arpin, S. Blesson, I. Mortemousque, E. Schaefer, D. Martin, N. Philip, S. Sigaudy, T. Busa, C. Missirian, F. Giuliano, H.K. Benailly, P.K.V. Kien, B. Leheup, C. Benneteau, L. Lambert, R. Caumes, P. Kuentz, I. François, D. Heron, B. Keren, E. Cretin, P. Callier, S. Julia and L. Faivre

    Version of Record online : 4 JAN 2016, DOI: 10.1111/cge.12696

  6. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Version of Record online : 18 MAR 2013, DOI: 10.1111/cge.12094

  7. Molecular characterization of 39 de novosSMC: contribution to prognosis and genetic counselling, a prospective study

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 233–244, N. Marle, D. Martinet, A. Aboura, G. Joly-Helas, J. Andrieux, E. Flori, J. Puechberty, F. Vialard, D. Sanlaville, S. Fert Ferrer, G. Bourrouillou, A.C. Tabet, B. Quilichini, B. Simon-Bouy, A. Bazin, M. Becker, H. Stora, S. Amblard, M. Doco-Fenzy, D. Molina Gomes, F. Girard-Lemaire, M.P. Cordier, V. Satre, A. Schneider, N. Lemeur, P. Chambon, S. Jacquemont, F. Fellmann, A. Vigouroux-Castera, R. Molignier, A. Delaye, E. Pipiras, A. Liquier, T. Rousseau, A.L. Mosca, V. Kremer, M. Payet, C. Rangon, F. Mugneret, S. Aho, L. Faivre and P. Callier

    Version of Record online : 5 APR 2013, DOI: 10.1111/cge.12138

  8. You have full text access to this OnlineOpen article
    Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 275–284, S.L. Sawyer, T. Hartley, D.A. Dyment, C.L. Beaulieu, J. Schwartzentruber, A. Smith, H.M. Bedford, G. Bernard, F.P. Bernier, B. Brais, D.E. Bulman, J. Warman Chardon, D. Chitayat, J. Deladoëy, B.A. Fernandez, P. Frosk, M.T. Geraghty, B. Gerull, W. Gibson, R.M. Gow, G.E. Graham, J.S. Green, E. Heon, G. Horvath, A.M. Innes, N. Jabado, R.H. Kim, R.K. Koenekoop, A. Khan, O.J. Lehmann, R. Mendoza-Londono, J.L. Michaud, S.M. Nikkel, L.S. Penney, C. Polychronakos, J. Richer, G.A. Rouleau, M.E. Samuels, V.M. Siu, O. Suchowersky, M.A. Tarnopolsky, G. Yoon, F.R. Zahir, FORGE Canada Consortium, Care4Rare Canada Consortium, J. Majewski and K.M. Boycott

    Version of Record online : 22 SEP 2015, DOI: 10.1111/cge.12654

  9. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

    Clinical Genetics

    Volume 90, Issue 6, December 2016, Pages: 550–555, A. Putoux, A. Alqahtani, L. Pinson, A.D.C. Paulussen, J. Michel, A. Besson, S. Mazoyer, I. Borg, S. Nampoothiri, A. Vasiljevic, A. Uwineza, D. Boggio, F. Champion, C.E. de Die-Smulders, T. Gardeitchik, W.K. van Putten, M.J. Perez, Y. Musizzano, F. Razavi, S. Drunat, A. Verloes, R. Hennekam, L. Guibaud, E. Alix, D. Sanlaville, G. Lesca and P. Edery

    Version of Record online : 2 JUN 2016, DOI: 10.1111/cge.12781

  10. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia

    Clinical Genetics

    Volume 90, Issue 6, December 2016, Pages: 509–517, J. Thevenon, L. Duplomb, S. Phadke, T. Eguether, A. Saunier, M. Avila, V. Carmignac, A.-L. Bruel, J. St-Onge, Y. Duffourd, G.J. Pazour, B. Franco, T. Attie-Bitach, A. Masurel-Paulet, J.-B. Rivière, V. Cormier-Daire, C. Philippe, L. Faivre and C. Thauvin-Robinet

    Version of Record online : 29 APR 2016, DOI: 10.1111/cge.12785

  11. Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2

    Clinical Genetics

    Volume 89, Issue 2, February 2016, Pages: 222–227, J.Y. Seo, K.-O. Lee, K.-H. Yoo, K.-W. Sung, H.H. Koo, S.-H. Kim, H.J. Kang, K.-D. Park, H.Y. Shin, H.-J. Baek, H. Kook, C.J. Lyu, J.-S. Song, M.J. Lee, J.-Y. Kim, Y.-T. Lim, K.-N. Koh, H.J. Im, J.J. Seo, H.-J. Kim and on behalf of the Korea Histiocytosis Working Party

    Version of Record online : 20 NOV 2015, DOI: 10.1111/cge.12682

  12. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 456–461, M.J. Nabais Sá, H. Storey, F. Flinter, M. Nagel, S. Sampaio, R. Castro, J.A. Araújo, M.A. Gaspar, C. Soares, A. Oliveira, A.C. Henriques, A.G. da Costa, C.P. Abreu, P. Ponce, R. Alves, L. Pinho, S.E. Silva, C.P. de Moura, L. Mendonça, F. Carvalho, M. Pestana, S. Alves, F. Carvalho and J.P. Oliveira

    Version of Record online : 10 NOV 2014, DOI: 10.1111/cge.12521

  13. Fetal phenotypes in otopalatodigital spectrum disorders

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 371–377, S. Naudion, S. Moutton, I. Coupry, G. Sole, J. Deforges, E. Guerineau, C. Hubert, S. Deves, J. Pilliod, C. Rooryck, C. Abel, F. Le Breton, S. Collardeau-Frachon, M.P. Cordier, A.L. Delezoide, A. Goldenberg, P. Loget, J. Melki, S. Odent, S. Patrier, A. Verloes, G. Viot, S. Blesson, B. Bessières, D. Lacombe, B. Arveiler, C. Goizet and P. Fergelot

    Version of Record online : 29 OCT 2015, DOI: 10.1111/cge.12679

  14. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome

    Clinical Genetics

    Volume 88, Issue 3, September 2015, Pages: 255–260, J.-L. Lin, W.-I. Lee, J.-L. Huang, P. K.-T. Chen, K.-C. Chan, L.-J. Lo, Y.-J. You, Y.-F. Shih, T.-Y. Tseng and M.-C. Wu

    Version of Record online : 13 OCT 2014, DOI: 10.1111/cge.12484

  15. Refining the continuum of CFTR-associated disorders in the era of newborn screening

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 539–549, H. Levy, M. Nugent, K. Schneck, D. Stachiw-Hietpas, A. Laxova, O. Lakser, M. Rock, M.K. Dahmer, J. Biller, S.Z. Nasr, M. Baker, S.A. McColley, P. Simpson and P.M. Farrell

    Version of Record online : 20 JAN 2016, DOI: 10.1111/cge.12711

  16. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 659–668, C. Mouden, C. Dubourg, W. Carré, S. Rose, C. Quelin, L. Akloul, H. Hamdi-Rozé, G. Viot, H. Salhi, P. Darnault, S. Odent, V. Dupé and V. David

    Version of Record online : 16 FEB 2016, DOI: 10.1111/cge.12722

  17. Genetic aspects of Huntington's disease in Latin America. A systematic review

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 295–303, R.M. Castilhos, M.C. Augustin, J.A. Santos, C. Perandones, M.L. Saraiva-Pereira, L.B. Jardim and on Behalf of Rede Neurogenética

    Version of Record online : 13 AUG 2015, DOI: 10.1111/cge.12641

  18. Genetics of human Bardet–Biedl syndrome, an updates

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 3–15, S.A. Khan, N. Muhammad, M.A. Khan, A. Kamal, Z.U. Rehman and S. Khan

    Version of Record online : 9 FEB 2016, DOI: 10.1111/cge.12737

  19. Spinocerebellar ataxia type 3/Machado–Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions

    Clinical Genetics

    Volume 90, Issue 2, August 2016, Pages: 134–140, G.N. Souza, N. Kersting, A.C. Krum-Santos, A.S.P. Santos, G.V. Furtado, D. Pacheco, T.A. Gonçalves, J.A. Saute, L. Schuler-Faccini, E.P. Mattos, M.L. Saraiva-Pereira and L.B. Jardim

    Version of Record online : 3 FEB 2016, DOI: 10.1111/cge.12719

  20. Fetal growth patterns in Beckwith–Wiedemann syndrome

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 21–27, A. Mussa, S. Russo, A. de Crescenzo, A. Freschi, L. Calzari, S. Maitz, M. Macchiaiolo, C. Molinatto, G. Baldassarre, M. Mariani, L. Tarani, M.F. Bedeschi, D. Milani, D. Melis, A. Bartuli, M.V. Cubellis, A. Selicorni, M.C. Silengo, L. Larizza, A. Riccio and G.B. Ferrero

    Version of Record online : 15 MAR 2016, DOI: 10.1111/cge.12759