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There are 15440 results for: content related to: APC promoter 1B deletion in familial polyposis—implications for mutation-negative families

  1. Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 482–486, S. Malik, S. Ullah, M. Afzal, K. Lal and S. Haque

    Article first published online : 5 JUL 2013, DOI: 10.1111/cge.12217

  2. Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 74–84, F. Ezgu, P. Krejci, S. Li, C. de Sousa, J.M. Graham Jr, I. Hansmann, W. He, K. Porpora, D. Wand, W. Wertelecki, A. Schneider and W.R. Wilcox

    Article first published online : 30 JUL 2013, DOI: 10.1111/cge.12230

  3. A family with two female siblings with compound heterozygous FMR1 premutation alleles

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 458–463, K. Basuta, R. Lozano, A. Schneider, C.M. Yrigollen, D. Hessl, R.J. Hagerman and F. Tassone

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12218

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

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 252–257, C. Fallerini, L. Dosa, R. Tita, D. Del Prete, S. Feriozzi, G. Gai, M. Clementi, A. La Manna, N. Miglietti, R. Mancini, G. Mandrile, G.M. Ghiggeri, G. Piaggio, F. Brancati, L. Diano, E. Frate, A.R. 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

  5. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12269

  6. You have free access to this content
    Whole-genome copy number variation analysis in anophthalmia and microphthalmia

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 473–481, KF Schilter, LM Reis, A Schneider, TM Bardakjian, O Abdul-Rahman, BA Kozel, HH Zimmerman, U Broeckel and EV Semina

    Article first published online : 17 JUN 2013, DOI: 10.1111/cge.12202

  7. You have free access to this content
    A systematic approach to assessing the clinical significance of genetic variants

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 453–463, H Duzkale, J Shen, H McLaughlin, A Alfares, MA Kelly, TJ Pugh, BH Funke, HL Rehm and MS Lebo

    Article first published online : 17 OCT 2013, DOI: 10.1111/cge.12257

  8. Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 433–440, A.E. Bochem, J.C. van Capelleveen, G.M. Dallinga-Thie, A.W.M. Schimmel, M.M. Motazacker, I. Tietjen, R.R. Singaraja, M.R. Hayden, J.J.P. Kastelein, E.S.G. Stroes and G.K. Hovingh

    Article first published online : 24 JUN 2013, DOI: 10.1111/cge.12201

  9. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 142–148, E. Weh, L.M. Reis, R.C. Tyler, D. Bick, W.J. Rhead, S. Wallace, T.L. McGregor, S.K. Dills, M.-C. Chao, J.C. Murray and E.V. Semina

    Article first published online : 17 SEP 2013, DOI: 10.1111/cge.12241

  10. Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 555–561, F.V. Ventura, P. Leandro, A. Luz, I.A. Rivera, M.F.B. Silva, R. Ramos, H. Rocha, A. Lopes, H. Fonseca, A. Gaspar, L. Diogo, E. Martins, E. Leão-Teles, L. Vilarinho and I. Tavares de Almeida

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12227

  11. Health care provider recommendations for reducing cancer risks among women with a BRCA1 or BRCA2 mutation

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 21–30, KA Metcalfe, C Kim-Sing, P Ghadirian, P Sun and SA Narod

    Article first published online : 25 AUG 2013, DOI: 10.1111/cge.12233

  12. Making headway with genetic diagnostics of intellectual disabilities

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 101–110, M.H. Willemsen and T. Kleefstra

    Article first published online : 25 AUG 2013, DOI: 10.1111/cge.12244

  13. Proteus syndrome review: molecular, clinical, and pathologic features

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 111–119, M. Michael Cohen Jr.

    Article first published online : 23 OCT 2013, DOI: 10.1111/cge.12266

  14. Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 361–366, A. Spreiz, E. Haberlandt, M. Baumann, S. Baumgartner Sigl, C. Fauth, K. Gautsch, D. Karall, C. Janetschek, K. Rostasy, S. Scholl-Bürgi, S. Zotter, G. Utermann, J. Zschocke and D. Kotzot

    Article first published online : 28 OCT 2013, DOI: 10.1111/cge.12288

  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. Intrafamilial phenotypic variability in four families with Anderson-Fabry disease

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 258–263, M. Rigoldi, D. Concolino, A. Morrone, F. Pieruzzi, R. Ravaglia, F. Furlan, F. Santus, P. Strisciuglio, G. Torti and R. Parini

    Article first published online : 20 SEP 2013, DOI: 10.1111/cge.12261

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

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 548–554, Y. Tsurusaki, N. Okamoto, H. Ohashi, S. Mizuno, N. Matsumoto, Y. Makita, M. Fukuda, B. Isidor, J. Perrier, S. Aggarwal, A.B. 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

  18. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 282–286, I. Schrauwen, M. Sommen, C. Claes, J. Pinner, M. Flaherty, F. Collins and G. Van Camp

    Article first published online : 23 SEP 2013, DOI: 10.1111/cge.12265

  19. Whole-exome sequencing expands the phenotype of Hunter syndrome

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 172–176, S.M. Nikkel, L. Huang, R. Lachman, C.L. Beaulieu, J. Schwartzentruber, FORGE Canada Consortium, J. Majewski, M.T. Geraghty and K.M. Boycott

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12236

  20. Polydactyly: phenotypes, genetics and classification

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 203–212, S. Malik

    Article first published online : 18 OCT 2013, DOI: 10.1111/cge.12276