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There are 25954 results for: content related to: Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis

  1. You have free access to this content
    Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

    Annals of Human Genetics

    Volume 77, Issue 5, September 2013, Pages: 435–463, Dian K. Nurputra, Poh San Lai, Nur Imma F. Harahap, Satoru Morikawa, Tomoto Yamamoto, Noriyuki Nishimura, Yuji Kubo, Atsuko Takeuchi, Toshio Saito, Yasuhiro Takeshima, Yumi Tohyama, Stacey KH Tay, Poh Sim Low, Kayoko Saito and Hisahide Nishio

    Version of Record online : 23 JUL 2013, DOI: 10.1111/ahg.12031

  2. Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches

    Unit

    Current Protocols in Human Genetics

    9:9.27.1–9.27.13

    Thomas W. Prior and Narasimhan Nagan

    Published Online : 1 JAN 2016, DOI: 10.1002/0471142905.hg0927s88

  3. You have full text access to this OnlineOpen article
    SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site

    Human Mutation

    Volume 32, Issue 2, February 2011, Pages: 220–230, Thomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested, Johan Palmfeldt, Henriette Skovgaard Andersen, Niels Gregersen and Brage Storstein Andresen

    Version of Record online : 25 JAN 2011, DOI: 10.1002/humu.21419

  4. You have full text access to this OnlineOpen article
    SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 4, July 2015, Pages: 248–257, Deborah L. Stabley, Ashlee W. Harris, Jennifer Holbrook, Nicholas J. Chubbs, Kevin W. Lozo, Thomas O. Crawford, Kathryn J. Swoboda, Vicky L. Funanage, Wenlan Wang, William Mackenzie, Mena Scavina, Katia Sol-Church and Matthew E. R. Butchbach

    Version of Record online : 21 MAR 2015, DOI: 10.1002/mgg3.141

  5. SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy

    Pediatrics International

    Volume 50, Issue 3, June 2008, Pages: 346–351, Van Khanh Tran, 1 Teguh Haryo Sasongko, 2 Dang Diem Hong, 4 Nguyen Thi Hoan, 3 Vu Chi Dung, 3 Myeong Jin Lee, 2 , 2 Yasuhiro Takeshima, 1 Masafumi Matsuo and 1 Hisahide Nishio 2

    Version of Record online : 29 MAY 2008, DOI: 10.1111/j.1442-200X.2008.02590.x

  6. Genetic risk assessment in carrier testing for spinal muscular atrophy

    American Journal of Medical Genetics

    Volume 110, Issue 4, 15 July 2002, Pages: 301–307, Shuji Ogino, Debra G.B. Leonard, Hanna Rennert, Warren J. Ewens and Robert B. Wilson

    Version of Record online : 17 MAY 2002, DOI: 10.1002/ajmg.10425

  7. A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

    Human Mutation

    Volume 32, Issue 9, September 2011, Pages: 989–994, Myriam Vezain, Bénédicte Gérard, Séverine Drunat, Benoît Funalot, Séverine Fehrenbach, Virginie N'Guyen-Viet, Jean-Michel Vallat, Thierry Frébourg, Mario Tosi, Alexandra Martins and Pascale Saugier-Veber

    Version of Record online : 16 AUG 2011, DOI: 10.1002/humu.21528

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    Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds

    EMBO Molecular Medicine

    Volume 5, Issue 7, July 2013, Pages: 1103–1118, Jonathan J. Cherry, Erkan Y. Osman, Matthew C. Evans, Sungwoon Choi, Xuechao Xing, Gregory D. Cuny, Marcie A. Glicksman, Christian L. Lorson and Elliot J. Androphy

    Version of Record online : 5 JUN 2013, DOI: 10.1002/emmm.201202305

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    Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: An animal model for therapeutic studies

    Developmental Dynamics

    Volume 237, Issue 8, August 2008, Pages: 2268–2278, Monique A. Lorson, Lee D. Spate, Randall S. Prather and Christian L. Lorson

    Version of Record online : 23 JUL 2008, DOI: 10.1002/dvdy.21642

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    Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa

    Annals of Neurology

    Volume 75, Issue 4, April 2014, Pages: 525–532, Modibo Sangaré, Brant Hendrickson, Hammadoun Ali Sango, Kelian Chen, Jonathan Nofziger, Abdelbasset Amara, Amalia Dutra, Alice B. Schindler, Aldiouma Guindo, Mahamadou Traoré, George Harmison, Evgenia Pak, Fatoumata N'Go Yaro, Katherine Bricceno, Christopher Grunseich, Guibin Chen, Manfred Boehm, Kristen Zukosky, Nouhoum Bocoum, Katherine G. Meilleur, Fatoumata Daou, Koumba Bagayogo, Yaya Ibrahim Coulibaly, Mahamadou Diakité, Michael P. Fay, Hee-Suk Lee, Ali Saad, Moez Gribaa, Andrew B. Singleton, Youssoufa Maiga, Sungyoung Auh, Guida Landouré, Rick M. Fairhurst, Barrington G. Burnett, Thomas Scholl and Kenneth H. Fischbeck

    Version of Record online : 2 APR 2014, DOI: 10.1002/ana.24114

  11. Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy

    ELECTROPHORESIS

    Volume 30, Issue 7, April 2009, Pages: 1102–1110, Chun-Chi Wang, Jan-Gowth Chang, Yuh-Jyh Jong and Shou-Mei Wu

    Version of Record online : 16 APR 2009, DOI: 10.1002/elps.200800375

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    The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

    The EMBO Journal

    Volume 29, Issue 7, April 7, 2010, Pages: 1235–1247, Simona Pedrotti, Pamela Bielli, Maria Paola Paronetto, Fabiola Ciccosanti, Gian Maria Fimia, Stefan Stamm, James L Manley and Claudio Sette

    Version of Record online : 25 FEB 2010, DOI: 10.1038/emboj.2010.19

  13. SMN in spinal muscular atrophy and snRNP biogenesis

    Wiley Interdisciplinary Reviews: RNA

    Volume 2, Issue 4, July/August 2011, Pages: 546–564, Tristan H. Coady and Christian L. Lorson

    Version of Record online : 17 FEB 2011, DOI: 10.1002/wrna.76

  14. QNQKE targeting motif for the SMN-Gemin multiprotein complexin neurons

    Journal of Neuroscience Research

    Volume 85, Issue 12, September 2007, Pages: 2657–2667, Honglai Zhang, Lei Xing, Robert H. Singer and Gary J. Bassell

    Version of Record online : 23 APR 2007, DOI: 10.1002/jnr.21308

  15. Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis

    ELECTROPHORESIS

    Volume 31, Issue 14, July 2010, Pages: 2396–2404, Chun-Chi Wang, Jan-Gowth Chang, Yen-Ling Chen, Yuh-Jyh Jong and Shou-Mei Wu

    Version of Record online : 16 JUN 2010, DOI: 10.1002/elps.201000124

  16. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 3, 15 October 2004, Pages: 307–310, Thomas W. Prior, Kathryn J. Swoboda, H. Denman Scott and Ashley Q. Hejmanowski

    Version of Record online : 24 AUG 2004, DOI: 10.1002/ajmg.a.30251

  17. Spinal muscular atrophy: Recent advances and future prospects

    Muscle & Nerve

    Volume 26, Issue 1, July 2002, Pages: 4–13, Sophie Nicole, Carmen Cifuentes Diaz, Tony Frugier and Judith Melki

    Version of Record online : 15 APR 2002, DOI: 10.1002/mus.10110

  18. You have full text access to this OnlineOpen article
    A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA

    Molecular Genetics & Genomic Medicine

    Volume 1, Issue 2, July 2013, Pages: 113–117, Susan M. Kirwin, Kathy M. B. Vinette, Iris L. Gonzalez, Hind Al Abdulwahed, Nouriya Al-Sannaa and Vicky L. Funanage

    Version of Record online : 30 MAY 2013, DOI: 10.1002/mgg3.10

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    Spinal Muscular Atrophy Carrier Screening by Multiplex Polymerase Chain Reaction using Dried Blood Spot on Filter Paper

    Annals of Human Genetics

    Volume 69, Issue 2, March 2005, Pages: 216–221, R. Majumdar, Z. Rehana, M. Al Jumah and N. Fetaini

    Version of Record online : 29 NOV 2005, DOI: 10.1046/j.1469-1809.2004.00149.x

  20. Newborn and carrier screening for spinal muscular atrophy

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 7, July 2010, Pages: 1608–1616, Thomas W. Prior, Pamela J. Snyder, Britton D. Rink, Dennis K. Pearl, Robert E. Pyatt, David C. Mihal, Todd Conlan, Betsy Schmalz, Laura Montgomery, Katie Ziegler, Carolee Noonan, Sayaka Hashimoto and Shannon Garner

    Version of Record online : 7 MAY 2010, DOI: 10.1002/ajmg.a.33474