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There are 31333 results for: content related to: Exome Sequencing Identifies A Branch Point Variant in Aarskog–Scott Syndrome

  1. Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog–Scott syndrome due to a novel FGD1 gene mutation (R408Q)

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 1, 15 May 2005, Pages: 99–102, Alfredo Orrico, Lucia Galli, Sabrina Buoni, Giuseppe Hayek, Anna Luchetti, Stefania Lorenzini, Michele Zappella, Maria Grazia Pomponi and Vincenzo Sorrentino

    Version of Record online : 4 APR 2005, DOI: 10.1002/ajmg.a.30700

  2. You have full text access to this OnlineOpen article
    Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 3, May 2015, Pages: 197–202, Mariana Pérez-Coria, José J. Lugo-Trampe, Michell Zamudio-Osuna, Iram P. Rodríguez-Sánchez, Angel Lugo-Trampe, Beatriz de la Fuente-Cortez, Luis D. Campos-Acevedo and Laura E. Martínez-de-Villarreal

    Version of Record online : 17 FEB 2015, DOI: 10.1002/mgg3.132

  3. Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 313–318, A. Orrico, L. Galli, L. Faivre, J. Clayton-Smith, S.M. Azzarello-Burri, J.M. Hertz, S. Jacquemont, R. Taurisano, I. Arroyo Carrera, E. Tarantino, K. Devriendt, D. Melis, T. Thelle, U. Meinhardt and V. Sorrentino

    Version of Record online : 15 JAN 2010, DOI: 10.1002/ajmg.a.33199

  4. You have free access to this content
    A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog–Scott syndrome)

    FEBS Letters

    Volume 478, Issue 3, August 04, 2000, Pages: 216–220, Alfredo Orrico, Lucia Galli, Michela Falciani, Martina Bracci, Maria Luigia Cavaliere, Maria Michela Rinaldi, Andrea Musacchio and Vincenzo Sorrentino

    Version of Record online : 31 JUL 2000, DOI: 10.1016/S0014-5793(00)01857-3

  5. Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 19, 1 October 2007, Pages: 2334–2338, Armand Bottani, Alfredo Orrico, Lucia Galli, Olivier Karam, Charles-André Haenggeli, Solène Ferey and Bernard Conrad

    Version of Record online : 10 SEP 2007, DOI: 10.1002/ajmg.a.31733

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    Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 1, 1 January 2007, Pages: 58–63, A. Orrico, L. Galli, M.G. Obregon, M.F. de Castro Perez, M. Falciani and V. Sorrentino

    Version of Record online : 6 DEC 2006, DOI: 10.1002/ajmg.a.31562

  7. Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism

    American Journal of Medical Genetics Part A

    Volume 155, Issue 8, August 2011, Pages: 1987–1990, Laura Pilozzi-Edmonds, Thomas A. Maher, Raveen K. Basran, Aubrey Milunsky, Khalid Al-Thihli, Nancy E. Braverman and Ahmed Alfares

    Version of Record online : 7 JUL 2011, DOI: 10.1002/ajmg.a.34094

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    Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome)

    Developmental Dynamics

    Volume 218, Issue 4, August 2000, Pages: 573–586, Jerome L. Gorski, Lourdes Estrada, Changzhi Hu and Zhou Liu

    Version of Record online : 21 JUN 2000, DOI: 10.1002/1097-0177(2000)9999:9999<::AID-DVDY1015>3.0.CO;2-F

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    The FWD1/β-TrCP-mediated degradation pathway establishes a ‘turning off switch’ of a Cdc42 guanine nucleotide exchange factor, FGD1

    Genes to Cells

    Volume 10, Issue 3, March 2005, Pages: 241–251, Makio Hayakawa, Hideo Kitagawa, Keiji Miyazawa, Masatoshi Kitagawa and Kiyomi Kikugawa

    Version of Record online : 22 FEB 2005, DOI: 10.1111/j.1365-2443.2005.00834.x

  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. Novel alternative splicing of human faciogenital dysplasia 1 gene

    Congenital Anomalies

    Volume 44, Issue 3, September 2004, Pages: 137–141, Kumiko Yanagi, Tadashi Kaname, Yasutsugu Chinen and Kenji Naritomi

    Version of Record online : 25 AUG 2004, DOI: 10.1111/j.1741-4520.2004.00026.x

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    Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane

    Journal of Cellular and Molecular Medicine

    Volume 12, Issue 4, August 2008, Pages: 1169–1176, Hiroyuki Nakanishi and Yoshimi Takai

    Version of Record online : 10 APR 2008, DOI: 10.1111/j.1582-4934.2008.00345.x

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    Podosomal proteins as causes of human syndromes: A role in craniofacial development?

    genesis

    Volume 49, Issue 4, April 2011, Pages: 209–221, Pilar Cejudo-Martin and Sara A. Courtneidge

    Version of Record online : 1 APR 2011, DOI: 10.1002/dvg.20732

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    Novel insights into FGD3, a putative GEF for Cdc42, that undergoes SCFFWD1/β-TrCP-mediated proteasomal degradation analogous to that of its homologue FGD1 but regulates cell morphology and motility differently from FGD1

    Genes to Cells

    Volume 13, Issue 4, April 2008, Pages: 329–342, Makio Hayakawa, Masahide Matsushima, Hiroshi Hagiwara, Toshiyuki Oshima, Tomofumi Fujino, Ken Ando, Kiyomi Kikugawa, Hirofumi Tanaka, Keiji Miyazawa and Masatoshi Kitagawa

    Version of Record online : 21 MAR 2008, DOI: 10.1111/j.1365-2443.2008.01168.x

  15. Familial syndrome resembling Aarskog syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 8, August 2010, Pages: 2017–2022, Mingzhi Xu, Ming Qi, Huali Zhou, Jing Yong, Huiqing Qiu, Peikuan Cong, Xutao Hong, Chengjiang Li, Yan Jiang, Xiao Chen and Yunsong Yu

    Version of Record online : 6 JUL 2010, DOI: 10.1002/ajmg.a.33487

  16. Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 2, 15 January 2006, Pages: 162–165, Stavit A. Shalev, Elana Chervinski, Ehud Weiner, Galia Mazor, Michael J. Friez and Charles E. Schwartz

    Version of Record online : 13 DEC 2005, DOI: 10.1002/ajmg.a.31033

  17. Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 93–96, N Ronce, I Maystadt, C Hubert, S Vonwill, K Devriendt, M-P Moizard and M Raynaud

    Version of Record online : 30 DEC 2011, DOI: 10.1111/j.1399-0004.2011.01782.x

  18. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

  19. Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: Exclusion of the Aarskog (FGD1) gene as a candidate gene

    American Journal of Medical Genetics

    Volume 99, Issue 3, 15 March 2001, Pages: 248–251, Barbara J. LaDine, Joan A. Simmons, Antony E. Shrimpton and Joe J. Hoo

    Version of Record online : 7 FEB 2001, DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1147>3.0.CO;2-T

  20. Neurobehavioral disorders in patients with Aarskog–Scott syndrome affected by novel FGD1 mutations

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 12, 15 June 2006, Pages: 1331–1332, Tadashi Kaname, Kumiko Yanagi, Nobuhiko Okamoto and Kenji Naritomi

    Version of Record online : 10 MAY 2006, DOI: 10.1002/ajmg.a.31253