Search Results

There are 1787992 results for: content related to: Partial ATRX gene duplication causes ATR-X syndrome

  1. Skewed X-inactivation in carriers establishes linkage in an X-linked deafness–mental retardation syndrome

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 2, 1 December 2004, Pages: 209–212, Frank J. Probst, Peter Hedera, Anthony M. Sclafani, Maria Grazia Pomponi, Giovanni Neri, Jessica Tyson, Julie A. Douglas, Elizabeth M. Petty and Donna M. Martin

    Version of Record online : 7 SEP 2004, DOI: 10.1002/ajmg.a.30308

  2. A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome

    Clinical Genetics

    Volume 77, Issue 2, February 2010, Pages: 141–144, M Badura-Stronka, A Jamsheer, A Materna-Kiryluk, A Sowińska, K Kiryluk, B Budny and A Latos-Bieleńska

    Version of Record online : 10 DEC 2009, DOI: 10.1111/j.1399-0004.2009.01331.x

  3. Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear

    American Journal of Medical Genetics

    Volume 108, Issue 2, 1 March 2002, Pages: 120–127, Marianne Kristiansen, Gun Peggy Knudsen, Anne Søyland, Jostein Westvik and Karen Helene Ørstavik

    Version of Record online : 16 JAN 2002, DOI: 10.1002/ajmg.10245

  4. Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome

    Clinical Genetics

    Volume 77, Issue 6, June 2010, Pages: 541–551, B Budny, M Badura-Stronka, A Materna-Kiryluk, A Tzschach, M Raynaud, A Latos-Bielenska and HH Ropers

    Version of Record online : 19 MAR 2010, DOI: 10.1111/j.1399-0004.2010.01429.x

  5. A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 5, 1 March 2006, Pages: 482–487, Elisabetta Tabolacci, M. Grazia Pomponi, Roberta Pietrobono, Alessandra Terracciano, Pietro Chiurazzi and Giovanni Neri

    Version of Record online : 6 FEB 2006, DOI: 10.1002/ajmg.a.31107

  6. EMX2-independent familial schizencephaly: Clinical and genetic analyses

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 2, 1 June 2005, Pages: 166–170, Ian Tietjen, Füsun Erdogan, Sophie Currier, Kira Apse, Bernard S. Chang, R. Sean Hill, Christine K. Lee and Christopher A. Walsh

    Version of Record online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30734

  7. Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 1, 1 January 2006, Pages: 31–39, Karen Helene Ørstavik, Marianne Kristiansen, Gun Peggy Knudsen, Kari Storhaug, Åshild Vege, Kristin Eiklid, Tore G Abrahamsen, Asma Smahi and Jon Steen-Johnsen

    Version of Record online : 6 DEC 2005, DOI: 10.1002/ajmg.a.31026

  8. van den Ende–Gupta syndrome: Evidence for genetic heterogeneity

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1293–1295, Gabriela F. Leal and Elias O. Silva

    Version of Record online : 15 MAY 2009, DOI: 10.1002/ajmg.a.32871

  9. Genome-widely significant evidence of linkage of schizophrenia to chromosomes 2p24.3 and 6q27 in an SNP-Based analysis of Korean families

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 150B, Issue 5, 5 July 2009, Pages: 647–652, Kyung Sue Hong, Hong-Hee Won, Eun-Young Cho, Hyun Ok Jeun, Sang-Seon Cho, Yu-Sang Lee, Dong Yeon Park, Yong Lee Jang, Kyeong-Sook Choi, Dongsoo Lee, Min-Ji Kim, Seonwoo Kim, Wou Sang Han and Jong-Won Kim

    Version of Record online : 3 NOV 2008, DOI: 10.1002/ajmg.b.30884

  10. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

    Clinical Genetics

    Volume 61, Issue 2, February 2002, Pages: 139–145, RR Lebel, M May, S Pouls, HA Lubs, RE Stevenson and CE Schwartz

    Version of Record online : 3 APR 2002, DOI: 10.1034/j.1399-0004.2002.610209.x

  11. In-frame deletion in MECP2 causes mild nonspecific mental retardation

    American Journal of Medical Genetics

    Volume 107, Issue 1, 1 January 2002, Pages: 81–83, Helger G. Yntema, Astrid R. Oudakker, Tjitske Kleefstra, Ben C.J. Hamel, Hans van Bokhoven, Jamel Chelly, Vera M. Kalscheuer, Jean-Pierre Fryns, Martine Raynaud, Marie-Pierre Moizard and Claude Moraine

    Version of Record online : 23 OCT 2001, DOI: 10.1002/ajmg.10085

  12. MRX42: Two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation

    American Journal of Medical Genetics

    Volume 107, Issue 1, 1 January 2002, Pages: 18–25, Astrid Golla, Imma Rost, Kerry Baldwin Jedele, Angelika Albert, Jan Murken and Elke Holinski-Feder

    Version of Record online : 5 DEC 2002, DOI: 10.1002/ajmg.10027

  13. A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 97, Issue 7, July 2013, Pages: 456–462, Nadia Akawi, Bassam Ali and Lihadh Al Gazali

    Version of Record online : 20 MAY 2013, DOI: 10.1002/bdra.23136

  14. You have free access to this content
    37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting

    American Journal of Medical Genetics Part A

    Volume 173, Issue 8, August 2017, Pages: 2007–2073, Kim M. Keppler-Noreuil, Julian A. Martinez-Agosto, Louanne Hudgins and John C. Carey

    Version of Record online : 24 MAY 2017, DOI: 10.1002/ajmg.a.38229

  15. Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures

    Clinical Genetics

    Volume 91, Issue 3, March 2017, Pages: 470–475, A.A. Mahmud, N.A. Nahid, C. Nassif, M.S.B. Sayeed, M.U. Ahmed, M. Parveen, M.I. Khalil, M.M. Islam, Z. Nahar, F. Rypens, F.F. Hamdan, G.A. Rouleau, A. Hasnat and J.L. Michaud

    Version of Record online : 16 SEP 2016, DOI: 10.1111/cge.12850

  16. Linkage of schizophrenia with chromosome 1q32 in Korean multiplex families'

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 144B, Issue 3, 5 April 2007, Pages: 279–284, Yong Lee Jang, Jong Won Kim, Yu-Sang Lee, Dong Yeon Park, Eun-Young Cho, Hyun Ok Jeun, Dongsoo Lee and Kyung Sue Hong

    Version of Record online : 14 DEC 2006, DOI: 10.1002/ajmg.b.30389

  17. A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome)

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 183–188, P Rump, RC Niessen, KT Verbruggen, OF Brouwer, M de Raad and R Hordijk

    Version of Record online : 14 APR 2010, DOI: 10.1111/j.1399-0004.2010.01449.x

  18. Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome

    Clinical Genetics

    Volume 72, Issue 4, October 2007, Pages: 351–356, RK Özgül, I Satman, GB Collin, EG Hinman, JD Marshall, O Kocaman, Y Tütüncü, T Yılmaz and JK Naggert

    Version of Record online : 3 AUG 2007, DOI: 10.1111/j.1399-0004.2007.00848.x

  19. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2569–2572, Kaya Bilguvar, Ali K. Ozturk, Fatih Bayrakli, Aslan Guzel, Michael L. DiLuna, Yasar Bayri, Mehmet Tatli, Selahaddin Tekes, Zulfikar Arlier, Katsuhito Yasuno, Christopher E. Mason, Richard P. Lifton, Matthew W. State and Murat Gunel

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.a.33063

  20. Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 760–766, Dorien Lugtenberg, Arjan P.M. de Brouwer, Astrid R. Oudakker, Rolph Pfundt, Ben C.J. Hamel, Hans van Bokhoven and Ernie M.H.F. Bongers

    Version of Record online : 16 MAR 2009, DOI: 10.1002/ajmg.a.32742