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There are 2947 results for: content related to: A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer

  1. 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

  2. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

    Clinical Genetics

    Volume 91, Issue 4, April 2017, Pages: 576–588, S. El Chehadeh, R. Touraine, F. Prieur, W. Reardon, T. Bienvenu, S. Chantot-Bastaraud, M. Doco-Fenzy, E. Landais, C. Philippe, N. Marle, P. Callier, A.-L. Mosca-Boidron, F. Mugneret, N. Le Meur, A. Goldenberg, A.-M. Guerrot, P. Chambon, V. Satre, C. Coutton, P.-S. Jouk, F. Devillard, K. Dieterich, A. Afenjar, L. Burglen, M.-L. Moutard, M.-C. Addor, S. Lebon, D. Martinet, J.-L. Alessandri, B. Doray, M. Miguet, D. Devys, P. Saugier-Veber, S. Drunat, B. Aral, V. Kremer, S. Rondeau, A.-C. Tabet, J. Thevenon, C. Thauvin-Robinet, N. Perreton, V. Des Portes and L. Faivre

    Version of Record online : 16 FEB 2017, DOI: 10.1111/cge.12898

  3. 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

  4. 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

  5. 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

  6. High prevalence of BRCA1 founder mutations in Greek breast/ovarian families

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 36–42, I Konstantopoulou, M Tsitlaidou, F Fostira, M Pertesi, A-V Stavropoulou, O Triantafyllidou, E Tsotra, AP Tsiftsoglou, C Tsionou, S Droufakou, C Dimitrakakis, G Fountzilas and D Yannoukakos

    Version of Record online : 20 OCT 2013, DOI: 10.1111/cge.12274

  7. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 501–506, M. Avila, D.A. Dyment, J.V. Sagen, J. St-Onge, U. Moog, B.H.Y. Chung, S. Mo, S. Mansour, A. Albanese, S. Garcia, D.O. Martin, A.A. Lopez, T. Claudi, R. König, S.M. White, S.L. Sawyer, J.A. Bernstein, L. Slattery, R.K. Jobling, G. Yoon, C.J. Curry, M.L. Merrer, B.L. Luyer, D. Héron, M. Mathieu-Dramard, P. Bitoun, S. Odent, J. Amiel, P. Kuentz, J. Thevenon, M. Laville, Y. Reznik, C. Fagour, M.-L. Nunes, D. Delesalle, S. Manouvrier, O. Lascols, F. Huet, C. Binquet, L. Faivre, J.-B. Rivière, C. Vigouroux, P.R. Njølstad, A.M. Innes and C. Thauvin-Robinet

    Version of Record online : 27 NOV 2015, DOI: 10.1111/cge.12688

  8. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 244–251, J. Piard, B. Aral, P. Vabres, M. Holder-Espinasse, A. Mégarbané, S. Gauthier, V. Capra, G. Pierquin, P. Callier, C. Baumann, L. Pasquier, G. Baujat, L. Martorell, A. Rodriguez, A. F. Brady, F. Boralevi, M. A. González-Enseñat, M. Rio, C. Bodemer, N. Philip, M.-P. Cordier, A. Goldenberg, B. Demeer, M. Wright, E. Blair, E. Puzenat, P. Parent, Y. Sznajer, C. Francannet, N. DiDonato, O. Boute, V. Barlogis, O. Moldovan, D. Bessis, C. Coubes, M. Tardieu, V. Cormier-Daire, A. B. Sousa, J. Franques, A. Toutain, M. Tajir, S. C. Elalaoui, D. Geneviève, J. Thevenon, J.-B. Courcet, J.-B. Rivière, C. Collet, N. Gigot, L. Faivre and C. Thauvin-Robinet

    Version of Record online : 26 MAR 2014, DOI: 10.1111/cge.12361

  9. 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

  10. 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

  11. Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype–phenotype study

    Clinical Genetics

    C. Tardieu, S. Jung, K. Niederreither, M. Prasad, S. Hadj-Rabia, N. Philip, A. Mallet, E. Consolino, E. Sfeir, B. Noueiri, N. Chassaing, H. Dollfus, M.C. Manière, A. Bloch-Zupan and F. Clauss

    Version of Record online : 19 MAR 2017, DOI: 10.1111/cge.12972

  12. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy

    Clinical Genetics

    Volume 91, Issue 5, May 2017, Pages: 725–738, B. Pode-Shakked, H. Barash, L. Ziv, K.W. Gripp, E. Flex, O. Barel, K.S. Carvalho, M. Scavina, G. Chillemi, M. Niceta, E. Eyal, N. Kol, B. Ben-Zeev, O. Bar-Yosef, D. Marek-Yagel, E. Bertini, A.L. Duker, Y. Anikster, M. Tartaglia and A. Raas-Rothschild

    Version of Record online : 16 DEC 2016, DOI: 10.1111/cge.12914

  13. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing

    Clinical Genetics

    Volume 92, Issue 3, September 2017, Pages: 281–289, T.B. Balci, T. Hartley, Y. Xi, D.A. Dyment, C.L. Beaulieu, F.P. Bernier, L. Dupuis, G.A. Horvath, R. Mendoza-Londono, C. Prasad, J. Richer, X.-R. Yang, C.M. Armour, E. Bareke, B.A. Fernandez, H.J. McMillan, R.E. Lamont, J. Majewski, J.S. Parboosingh, A.N. Prasad, C.A. Rupar, J. Schwartzentruber, A.C. Smith, M. Tétreault, FORGE Canada Consortium, Care4Rare Canada Consortium, A.M. Innes and K.M. Boycott

    Version of Record online : 13 MAR 2017, DOI: 10.1111/cge.12987

  14. Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

    Clinical Genetics

    Volume 91, Issue 5, May 2017, Pages: 690–696, M.A. Shahrour, O. Staretz-Chacham, D. Dayan, J. Stephen, A. Weech, N. Damseh, H. Pri Chen, S. Edvardson, S. Mazaheri, A. Saada, NISC Intramural Sequencing, E. Hershkovitz, A. Shaag, M. Huizing, B. Abu-Libdeh, W.A Gahl, A. Azem, Y. Anikster, T. Vilboux, O. Elpeleg and M.C. Malicdan

    Version of Record online : 12 OCT 2016, DOI: 10.1111/cge.12855

  15. 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

  16. 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

  17. 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

  18. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 550–557, A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Version of Record online : 17 FEB 2015, DOI: 10.1111/cge.12550

  19. 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

  20. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 468–473, A.M. Slavotinek, S.T. Garcia, G. Chandratillake, T. Bardakjian, E. Ullah, D. Wu, K. Umeda, R. Lao, P.L.-F. Tang, E. Wan, L. Madireddy, S. Lyalina, B.A. Mendelsohn, S. Dugan, J. Tirch, R. Tischler, J. Harris, M.J. Clark, S. Chervitz, A. Patwardhan, J.M. West, P. Ursell, A. de Alba Campomanes, A. Schneider, P.-y. Kwok, S. Baranzini and R.O. Chen

    Version of Record online : 6 JAN 2015, DOI: 10.1111/cge.12543