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Research Article

X-Linked Mental Retardation (XLMR): From Clinical Conditions to Cloned Genes

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Pages 117-158 | Published online: 29 Sep 2008

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Claude Moraine, Frédérique Bonnet-Brilhault, Frédéric Laumonnier & Marie Gomot. (2009) Could autism with mental retardation result from digenism and frequent de novo mutations?. The World Journal of Biological Psychiatry 10:4-3, pages 1030-1036.
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Articles from other publishers (23)

E. N. Tolmacheva, E. A. Fonova & I. N. Lebedev. (2022) X-Linked CNV in Pathogenetics of Intellectual Disability. Russian Journal of Genetics 58:10, pages 1193-1207.
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Fatemeh Shakarami, Mehdi Jahani, Zahra Nouri & Mohammad Amin Tabatabaiefar. (2022) X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene . Molecular Genetics & Genomic Medicine 10:10.
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Liangshan Li, Jing Yu, Xiao Zhang, Mengmeng Han, Wenmiao Liu, Hui Li & Shiguo Liu. (2019) A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family. Molecular Medicine Reports.
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Małgorzata Z Lisik. 2005. Encyclopedia of Life Sciences. Encyclopedia of Life Sciences 1 13 .
Alba Redo Riveiro, Luca Mariani, Emily Malmberg, Pier Giorgio Amendola, Juhani Peltonen, Garry Wong & Anna Elisabetta Salcini. (2017) JMJD-1.2/PHF8 controls axon guidance by regulating Hedgehog-like signaling. Development.
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Ottmar Ette. (2012) Archeologies of Globalization. European Reflections on Two Phases of Accelerated Globalization in Cornelius de Pauw, Georg Forster, Guillaume-Thomas Raynal and Alexander von Humboldt. Culture & History Digital Journal 1:1, pages e003.
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Nagarathinam IndhumathiDeepika SinghSamuel S. ChongB.K. ThelmaRamesh ArabandiC.R. Srikumari Srisailpathy. (2012) Fragile X CGG Repeat Variation in Tamil Nadu, South India: A Comparison of Radioactive and Methylation-Specific Polymerase Chain Reaction in CGG Repeat Sizing. Genetic Testing and Molecular Biomarkers 16:2, pages 113-122.
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Farmaditya EP Mundhofir. (2012) Prevalence of fragile X syndrome in males and females in Indonesia. World Journal of Medical Genetics 2:3, pages 15.
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Małgorzata Zofia Lisik. 2005. Encyclopedia of Life Sciences. Encyclopedia of Life Sciences.
Bernard Crespi, Kyle Summers & Steve Dorus. (2009) Evolutionary genomics of human intellectual disability. Evolutionary Applications 3:1, pages 52-63.
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Stavros Bashiardes, Ludmila Kousoulidou, Hans van Bokhoven, Hans-Hilger Ropers, Jamel Chelly, Claude Moraine, Arjan P.M. de Brouwer, Hilde Van Esch, Guy Froyen & Philippos C. Patsalis. (2009) A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders. The Journal of Molecular Diagnostics 11:6, pages 562-568.
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Ali Reza Pouya, Seyedeh Sedigheh Abedini, Neda Mansoorian, Farkhondeh Behjati, Nooshin Nikzat, Marzieh Mohseni, Sahar Esmaeeli Nieh, Lia Abbasi Moheb, Hossein Darvish, Gholamreza Bahrami Monajemi, Susan Banihashemi, Kimia Kahrizi, Hans Hilger Ropers & Hossein Najmabadi. (2009) Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population. European Journal of Medical Genetics 52:4, pages 170-173.
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M.A. Fernández Fernández, M. Rufo Campos, M. Madruga Garrido, B. Blanco Martínez, B. Múñoz Cabello & R. Mateos Checa. (2009) Síndrome de West ligado al cromosoma X. Anales de Pediatría 70:1, pages 85-88.
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Maria Francesca Bedeschi, Antonio Novelli, Laura Bernardini, Cecilia Parazzini, Vera Bianchi, Barbara Torres, Federica Natacci, Maria Grazia Giuffrida, Paola Ficarazzi, Bruno Dallapiccola & Faustina Lalatta. (2008) Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. American Journal of Medical Genetics Part A 146A:13, pages 1718-1724.
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Pietro Chiurazzi, Charles E Schwartz, Jozef Gecz & Giovanni Neri. (2008) XLMR genes: update 2007. European Journal of Human Genetics 16:4, pages 422-434.
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Kenneth J. Aitken. (2008) Intersubjectivity, Affective Neuroscience, and the Neurobiology of Autistic Spectrum Disorders: A systematic review. The Keio Journal of Medicine 57:1, pages 15-36.
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Carmela Laperuta, Letizia Spizzichino, Pio D'Adamo, Jlenia Monfregola, Antonio Maiorino, Angela D'Eustacchio, Valerio Ventruto, Giovanni Neri, Michele D'Urso, Pietro Chiurazzi, Matilde Valeria Ursini & Maria Giuseppina Miano. (2007) MRX87 family with Aristaless Xdup24bp mutation and implication for polyAlanine expansions. BMC Medical Genetics 8:1.
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Ludmila Kousoulidou, Sven Parkel, Olga Zilina, Priit Palta, Helen Puusepp, Maido Remm, Gillian Turner, Jackie Boyle, Hans van Bokhoven, Arjan de Brouwer, Hilde Van Esch, Guy Froyen, Hans-Hilger Ropers, Jamel Chelly, Claude Moraine, Jozef Gecz, Ants Kurg & Philippos C. Patsalis. (2007) Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. European Journal of Medical Genetics 50:6, pages 399-410.
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Olga PenagarikanoJennifer G. MulleStephen T. Warren. (2007) The Pathophysiology of Fragile X Syndrome. Annual Review of Genomics and Human Genetics 8:1, pages 109-129.
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Jamel Chelly, Malik Khelfaoui, Fiona Francis, Beldjord Chérif & Thierry Bienvenu. (2006) Genetics and pathophysiology of mental retardation. European Journal of Human Genetics 14:6, pages 701-713.
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Magdalena Nawara, Krzysztof Szczaluba, Karine Poirier, Krystyna Chrzanowska, Jacek Pilch, Jerzy Bal, Jamel Chelly & Tadeusz Mazurczak. (2006) The ARX mutations: A frequent cause of X‐linked mental retardation . American Journal of Medical Genetics Part A 140A:7, pages 727-732.
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Elisabetta Tabolacci, M. Grazia Pomponi, Roberta Pietrobono, Alessandra Terracciano, Pietro Chiurazzi & Giovanni Neri. (2006) 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 140A:5, pages 482-487.
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Elisabetta Tabolacci, Marcella Zollino, Rosetta Lecce, Eugenio Sangiorgi, Fiorella Gurrieri, Vincenzo Leuzzi, John M. Opitz & Giovanni Neri. (2005) Two brothers with 22q13 deletion syndrome and features suggestive of the Clark???Baraitser syndrome. Clinical Dysmorphology 14:3, pages 127-132.
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