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There are 20285 results for: content related to: New CBP mutations in Brazilian patients with Rubinstein–Taybi syndrome

  1. Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

    Clinical Genetics

    S. Spena, D. Milani, D. Rusconi, G. Negri, P. Colapietro, N. Elcioglu, F. Bedeschi, A. Pilotta, L. Spaccini, A. Ficcadenti, C. Magnani, G. Scarano, A. Selicorni, L. Larizza and C. Gervasini

    Article first published online : 9 DEC 2014, DOI: 10.1111/cge.12537

  2. In relation to the article “Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases” by Bögerhausen et al.

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Page: 295, MO Diaz

    Article first published online : 18 FEB 2013, DOI: 10.1111/cge.12098

  3. Response to Simsek et al.

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Page: 584, G Duro, C Zizzo and P Colomba

    Article first published online : 5 APR 2013, DOI: 10.1111/cge.12134

  4. Bibliography on Rubinstein-Taybi syndrome

    American Journal of Medical Genetics

    Volume 37, Issue S6, 1990, Pages: 77–83, Raoul C. M. Hennekam

    Article first published online : 6 JUN 2005, DOI: 10.1002/ajmg.1320370614

  5. Response to Cragun et al.

    Clinical Genetics

    I.D. Kerr, P. Nix and R. Wenstrup

    Article first published online : 28 OCT 2014, DOI: 10.1111/cge.12510

  6. Platelets are not all gray in GFI1B disease

    Clinical Genetics

    W.S. Stevenson, M.-C. Morel-Kopp and C.M. Ward

    Article first published online : 21 JUL 2014, DOI: 10.1111/cge.12424

  7. Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 585–587, A Vargas-Hernández, L Berrón-Ruiz, T Staines-Boone, MdC Zarate-Hernández, WO Córdova-Calderón, FJ Espinosa-Rosales and L Santos-Argumedo

    Article first published online : 10 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01953.x

  8. Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome

    Clinical Genetics

    Volume 83, Issue 1, January 2013, Pages: 96–98, S Taşdemir, A Güzel-Ozantürk, JD Marshall, GB Collin, RK Özgül, N Narin, M Dündar and JK Naggert

    Article first published online : 25 APR 2012, DOI: 10.1111/j.1399-0004.2012.01883.x

  9. Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

    Clinical Genetics

    Volume 83, Issue 1, January 2013, Pages: 92–95, JL Hoffer, H Fryssira, AE Konstantinidou, H−H Ropers and A Tzschach

    Article first published online : 9 APR 2012, DOI: 10.1111/j.1399-0004.2012.01880.x

  10. Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 488–490, E Papari, M Bastami, A Farhadi, SS Abedini, M Hosseini, I Bahman, M Mohseni, M Garshasbi, L Abbasi Moheb, F Behjati, K Kahrizi, H-H Ropers and H Najmabadi

    Article first published online : 18 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01949.x

  11. Prenatal diagnostic conundrum involving a novel ATP7A duplication

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 97–98, C Schoonveld, A Donsante, D del Gaudio, D Waggoner, S Das and SG Kaler

    Article first published online : 14 NOV 2012, DOI: 10.1111/cge.12041

  12. 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

    Article first published online : 28 SEP 2012, DOI: 10.1111/cge.12012

  13. 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

    Article first published online : 12 OCT 2012, DOI: 10.1111/cge.12023

  14. You have full text access to this OnlineOpen article
    Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 288–290, F Ariani, F Mari, S Amitrano, C Di Marco, R Artuso, E Scala, I Meloni, R Della Volpe, A Rossi, H van Bokhoven and A Renieri

    Article first published online : 23 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01901.x

  15. Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot–Marie–Tooth type 1 patients

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 388–391, G Koutsis, A Pandraud, G Karadima, M Panas, MM Reilly, P Floroskufi, NW Wood and H Houlden

    Article first published online : 5 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01910.x

  16. Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 494–496, SH Seo, HS Ahn, YS Yu, HJ Kang, KD Park, SI Cho, JS Park, YJ Hyun, JY Kim, M-W Seong and SS Park

    Article first published online : 10 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01954.x

  17. Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 591–593, M Clendenning, FA Macrae, MD Walsh, RJ Walters, SN Thibodeau, SR Gunawardena, JD Potter, RW Haile, S Gallinger, Colorectal Cancer Family Registry, JL Hopper, MA Jenkins, C Rosty, JP Young and DD Buchanan

    Article first published online : 27 SEP 2012, DOI: 10.1111/cge.12011

  18. Monozygotic twins discordant for port wine stains support the post-zygotic mutation hypothesis

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 397–398, XD Chen, XJ Hu, G Ma and XX Lin

    Article first published online : 1 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01926.x

  19. Novel SLC9A6 mutations in two families with Christianson syndrome

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 596–597, A Riess, E Rossier, R Krüger, A Dufke, S Beck-Woedl, V Horber, M Alber, D Gläser, O Riess and A Tzschach

    Article first published online : 30 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01948.x

  20. OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 91–93, T Kausar, MA Bhatti, M Ali, RS Shaikh and ZM Ahmed

    Article first published online : 10 OCT 2012, DOI: 10.1111/cge.12019