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There are 58922 results for: content related to: OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

  1. Evaluation of genetic diversity and population structure of west-central Indian cattle breeds

    Animal Genetics

    Volume 44, Issue 4, August 2013, Pages: 442–445, Tejas M. Shah, Jaina S. Patel, Chandrakant D. Bhong, Aakash Doiphode, Uday D. Umrikar, Shivnandan S. Parmar, Dharamshibhai N. Rank, Jitendra V. Solanki and Chaitanya G. Joshi

    Article first published online : 6 DEC 2012, DOI: 10.1111/age.12013

  2. Au–Ag–Te Mineralization of the Low-Sulfidation Epithermal Aginskoe Deposit, Central Kamchatka, Russia

    Resource Geology

    Volume 63, Issue 4, October 2013, Pages: 337–349, Elena D. Andreeva, Hiroharu Matsueda, Victor M. Okrugin, Ryohei Takahashi and Shuji Ono

    Article first published online : 24 SEP 2013, DOI: 10.1111/rge.12013

  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

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12081

  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

    Article first published online : 18 MAR 2013, DOI: 10.1111/cge.12094

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

    Clinical Genetics

    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

    Article first published online : 26 MAR 2014, DOI: 10.1111/cge.12361

  6. Hf isotope compositions of U.S. Geological Survey reference materials

    Geochemistry, Geophysics, Geosystems

    Volume 8, Issue 6, June 2007, Dominique Weis, Bruno Kieffer, Diane Hanano, Inês Nobre Silva, Jane Barling, Wilma Pretorius, Claude Maerschalk and Nadine Mattielli

    Article first published online : 12 JUN 2007, DOI: 10.1029/2006GC001473

  7. Validation of Aura Microwave Limb Sounder Ozone by ozonesonde and lidar measurements

    Journal of Geophysical Research: Atmospheres (1984–2012)

    Volume 112, Issue D24, 27 December 2007, Y. B. Jiang, L. Froidevaux, A. Lambert, N. J. Livesey, W. G. Read, J. W. Waters, B. Bojkov, T. Leblanc, I. S. McDermid, S. Godin-Beekmann, M. J. Filipiak, R. S. Harwood, R. A. Fuller, W. H. Daffer, B. J. Drouin, R. E. Cofield, D. T. Cuddy, R. F. Jarnot, B. W. Knosp, V. S. Perun, M. J. Schwartz, W. V. Snyder, P. C. Stek, R. P. Thurstans, P. A. Wagner, M. Allaart, S. B. Andersen, G. Bodeker, B. Calpini, H. Claude, G. Coetzee, J. Davies, H. De Backer, H. Dier, M. Fujiwara, B. Johnson, H. Kelder, N. P. Leme, G. König-Langlo, E. Kyro, G. Laneve, L. S. Fook, J. Merrill, G. Morris, M. Newchurch, S. Oltmans, M. C. Parrondos, F. Posny, F. Schmidlin, P. Skrivankova, R. Stubi, D. Tarasick, A. Thompson, V. Thouret, P. Viatte, H. Vömel, P. von Der Gathen, M. Yela and G. Zablocki

    Article first published online : 15 DEC 2007, DOI: 10.1029/2007JD008776

  8. 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

    Article first published online : 5 APR 2013, DOI: 10.1111/cge.12138

  9. 190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 596–599, C Coutton, M Bidart, J Rendu, F Devillard, G Vieville, F Amblard, G Lopez, P-S Jouk and V Satre

    Article first published online : 25 MAR 2013, DOI: 10.1111/cge.12113

  10. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Clinical Genetics

    N Chassaing, A Causse, A Vigouroux, A Delahaye, J-L Alessandri, O Boespflug-Tanguy, O Boute-Benejean, H Dollfus, B Duban-Bedu, B Gilbert-Dussardier, F Giuliano, M Gonzales, M Holder-Espinasse, B Isidor, M-L Jacquemont, D Lacombe, D Martin-Coignard, M Mathieu-Dramard, S Odent, O Picone, L Pinson, C Quelin, S Sigaudy, A Toutain, C Thauvin-Robinet, Josseline Kaplan and Patrick Calvas

    Article first published online : 7 OCT 2013, DOI: 10.1111/cge.12275

  11. Association study of 37 genes related to serotonin and dopamine neurotransmission and neurotrophic factors in cocaine dependence

    Genes, Brain and Behavior

    Volume 12, Issue 1, February 2013, Pages: 39–46, N. Fernàndez-Castillo, C. Roncero, L. Grau-Lopez, C. Barral, G. Prat, L. Rodriguez-Cintas, C. Sánchez-Mora, M. Gratacòs, J.A. Ramos-Quiroga, M. Casas, M. Ribasés and B. Cormand

    Article first published online : 10 JAN 2013, DOI: 10.1111/gbb.12013

  12. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

    Clinical Genetics

    C Fallerini, L Dosa, R Tita, D Del Prete, S Feriozzi, G Gai, M Clementi, A La Manna, N Miglietti, R Mancini, G Mandrile, GM Ghiggeri, G Piaggio, F Brancati, L Diano, E Frate, AR Pinciaroli, M Giani, P Castorina, E Bresin, D Giachino, M De Marchi, F Mari, M Bruttini, A Renieri and F Ariani

    Article first published online : 17 OCT 2013, DOI: 10.1111/cge.12258

  13. 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

  14. Preventing ovarian cancer through genetic testing: a population-based study

    Clinical Genetics

    A Finch, S Bacopulos, B Rosen, I Fan, L Bradley, H Risch, JR McLaughlin, J Lerner-Ellis and SA Narod

    Article first published online : 4 DEC 2013, DOI: 10.1111/cge.12313

  15. Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 464–469, F. Petit, A.-S. Jourdain, J. Andrieux, G. Baujat, C. Baumann, C. Beneteau, A. David, L. Faivre, D. Gaillard, B. Gilbert-Dussardier, P.-S. Jouk, C. Le Caignec, P. Loget, L. Pasquier, N. Porchet, M. Holder-Espinasse, S. Manouvrier-Hanu and F. Escande

    Article first published online : 15 JUL 2013, DOI: 10.1111/cge.12219

  16. Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene

    Clinical Genetics

    C Collet, J-L Alessandri, E Arnaud, M Balu, VC Daire and F Di Rocco

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12213

  17. Interlaboratory comparison study of calibration standards for foraminiferal Mg/Ca thermometry

    Geochemistry, Geophysics, Geosystems

    Volume 9, Issue 8, August 2008, M. Greaves, N. Caillon, H. Rebaubier, G. Bartoli, S. Bohaty, I. Cacho, L. Clarke, M. Cooper, C. Daunt, M. Delaney, P. deMenocal, A. Dutton, S. Eggins, H. Elderfield, D. Garbe-Schoenberg, E. Goddard, D. Green, J. Groeneveld, D. Hastings, E. Hathorne, K. Kimoto, G. Klinkhammer, L. Labeyrie, D. W. Lea, T. Marchitto, M. A. Martínez-Botí, P. G. Mortyn, Y. Ni, D. Nuernberg, G. Paradis, L. Pena, T. Quinn, Y. Rosenthal, A. Russell, T. Sagawa, S. Sosdian, L. Stott, K. Tachikawa, E. Tappa, R. Thunell and P. A. Wilson

    Article first published online : 19 AUG 2008, DOI: 10.1029/2008GC001974

  18. Randomized Trial of Cisplatin versus Firocoxib versus Cisplatin/Firocoxib in Dogs with Transitional Cell Carcinoma of the Urinary Bladder

    Journal of Veterinary Internal Medicine

    Volume 27, Issue 1, January/February 2013, Pages: 126–133, D.W. Knapp, C.J. Henry, W.R. Widmer, K.M. Tan, G.E. Moore, J.A. Ramos-Vara, M.D. Lucroy, C.B. Greenberg, S.N. Greene, A.H. Abbo, P.D. Hanson, R. Alva and P.L. Bonney

    Article first published online : 3 DEC 2012, DOI: 10.1111/jvim.12013

  19. Familial clustering and genetic heterogeneity in Meniere's disease

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 245–252, T. Requena, J.M. Espinosa-Sanchez, S. Cabrera, G. Trinidad, A. Soto-Varela, S. Santos-Perez, R. Teggi, P. Perez, A. Batuecas-Caletrio, J. Fraile, I. Aran, E. Martin, J. Benitez, N. Pérez-Fernández and J.A. Lopez-Escamez

    Article first published online : 9 APR 2013, DOI: 10.1111/cge.12150

  20. Coffin–Siris syndrome is a SWI/SNF complex disorder

    Clinical Genetics

    Y Tsurusaki, N Okamoto, H Ohashi, S Mizuno, N Matsumoto, Y Makita, M Fukuda, B Isidor, J Perrier, S Aggarwal, AB Dalal, A Al-Kindy, J Liebelt, D Mowat, M Nakashima, H Saitsu, N Miyake and N Matsumoto

    Article first published online : 23 JUL 2013, DOI: 10.1111/cge.12225