XLMR genes: update 2007

[1]  Peter Marynen,et al.  Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. , 2008, American journal of human genetics.

[2]  P. Marynen,et al.  Detection of genomic copy number changes in patients with idiopathic mental retardation by high‐resolution X‐array‐CGH: important role for increased gene dosage of XLMR genes , 2007, Human mutation.

[3]  C. Schwartz,et al.  ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal , 2007, Journal of Medical Genetics.

[4]  C. Obie,et al.  X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation. , 2007, Genome research.

[5]  S. Grant,et al.  A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability , 2007, Nature Neuroscience.

[6]  Yves Lachapelle,et al.  The renaming of mental retardation: understanding the change to the term intellectual disability. , 2007, Intellectual and developmental disabilities.

[7]  I. Griffiths,et al.  PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus‐Merzbacher disease , 2007, Glia.

[8]  J. Gécz,et al.  Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation , 2007, European Journal of Human Genetics.

[9]  S. Grant,et al.  The role of neuronal complexes in human X-linked brain diseases. , 2007, American journal of human genetics.

[10]  J. Gécz,et al.  Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium , 2007, Human mutation.

[11]  S. Lenzner,et al.  X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11 , 2007, European Journal of Human Genetics.

[12]  R. Stevenson,et al.  Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28 , 2006, Pediatrics.

[13]  Ankita Patel,et al.  Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males , 2006, Genetics in Medicine.

[14]  Sarah Barber,et al.  Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. , 2006, American journal of human genetics.

[15]  H. Willard,et al.  X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. , 2006, American journal of human genetics.

[16]  H. Ropers.  X-linked mental retardation: many genes for a complex disorder. , 2006, Current opinion in genetics & development.

[17]  Jamel Chelly,et al.  Genetics and pathophysiology of mental retardation , 2006, European Journal of Human Genetics.

[18]  J. Moeschler,et al.  Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays , 2006, Pediatrics.

[19]  Charles E. Schwartz,et al.  X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology , 2006, Human Genetics.

[20]  J. Gécz,et al.  Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat , 2006, Neuroscience Letters.

[21]  J. Brosco,et al.  Impact of specific medical interventions on reducing the prevalence of mental retardation. , 2006, Archives of pediatrics & adolescent medicine.

[22]  G Mortier,et al.  Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports , 2006, Journal of Medical Genetics.

[23]  Jamel Chelly,et al.  Human disorders of cortical development: from past to present , 2006, The European journal of neuroscience.

[24]  B. D. de Vries,et al.  Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH , 2005, Journal of Medical Genetics.

[25]  U. Moog,et al.  Subtelomeric chromosome aberrations: still a lot to learn , 2005, Clinical genetics.

[26]  Ton Feuth,et al.  Diagnostic genome profiling in mental retardation. , 2005, American journal of human genetics.

[27]  J. Gécz,et al.  Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. , 2005, American journal of human genetics.

[28]  U. Moog.  The outcome of diagnostic studies on the etiology of mental retardation: Considerations on the classification of the causes , 2005, American journal of medical genetics. Part A.

[29]  R. Hennekam,et al.  Etiology of mental retardation in children referred to a tertiary care center: a prospective study. , 2005, American journal of mental retardation : AJMR.

[30]  T. Kleefstra,et al.  X‐linked mental retardation: further lumping, splitting and emerging phenotypes , 2005, Clinical genetics.

[31]  D. Skuse,et al.  X-linked genes and mental functioning. , 2005, Human molecular genetics.

[32]  K. Hameister,et al.  Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome , 2005, Journal of Medical Genetics.

[33]  Martin Offringa,et al.  Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness , 2005, European Journal of Human Genetics.

[34]  H. Ropers,et al.  X-linked mental retardation , 2005, Nature Reviews Genetics.

[35]  J. Mandel,et al.  Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations , 2004, European Journal of Human Genetics.

[36]  Jennifer K Inlow,et al.  Molecular and comparative genetics of mental retardation. , 2004, Genetics.

[37]  G. Neri,et al.  X-Linked Mental Retardation (XLMR): From Clinical Conditions to Cloned Genes , 2004, Critical reviews in clinical laboratory sciences.

[38]  V. Turk.  Mental Retardation: Definition, Classification, and Systems of Supports, 10th edn , 2003 .

[39]  A. Battaglia.  Neuroimaging studies in the evaluation of developmental delay/mental retardation , 2003, American journal of medical genetics. Part C, Seminars in medical genetics.

[40]  S. Kahler,et al.  Metabolic disorders and mental retardation , 2003, American journal of medical genetics. Part C, Seminars in medical genetics.

[41]  A. Battaglia,et al.  Diagnostic evaluation of developmental delay/mental retardation: An overview , 2003, American journal of medical genetics. Part C, Seminars in medical genetics.

[42]  A. Goldenberg,et al.  [Genetics of mental retardation]. , 2003, Pathologie-biologie.

[43]  H. Willard,et al.  Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. , 2002, American journal of human genetics.

[44]  Robert L. Schalock,et al.  Mental Retardation: Definition, Classification, and Systems of Supports. 10th Edition. , 2002 .

[45]  J. H. Lee,et al.  Prevalence of mental retardation and developmental disabilities: estimates from the 1994/1995 National Health Interview Survey Disability Supplements. , 2001, American journal of mental retardation : AJMR.

[46]  P. Chiurazzi,et al.  XLMR genes: update 2000 , 2001, European Journal of Human Genetics.

[47]  J. Gécz.  FMR3 is a novel gene associated withFRAXE CpG island and transcriptionally silent in FRAXE full mutations , 2000, Journal of medical genetics.

[48]  H. Lubs,et al.  XLMR genes: update 1998. , 1999, American journal of medical genetics.

[49]  S Schwartz,et al.  Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. , 1997, American journal of medical genetics.

[50]  Nancy B. Spinner,et al.  Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing , 1997, Nature Genetics.

[51]  H. Lubs,et al.  XLMR genes: update 1996. , 1996, American journal of medical genetics.

[52]  H. Lubs,et al.  XLMR genes: update 1994. , 1994, American journal of medical genetics.

[53]  H. Lubs,et al.  XLMR genes: update 1992. , 1992, American journal of medical genetics.

[54]  R. Stevenson,et al.  Nomenclature guidelines for X-linked mental retardation. , 1992, American journal of medical genetics.

[55]  H. Lubs,et al.  XLMR genes: update 1990. , 1991, American journal of medical genetics.

[56]  G. Turner,et al.  The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers. , 1983, American journal of medical genetics.

[57]  M. Andriola.  EEG IN MENTAL RETARDATION , 1983 .

[58]  J. Miller,et al.  Nonspecific X-linked mental retardation II: the frequency in British Columbia. , 1980, American journal of medical genetics.

[59]  R. Lehrke.  Theory of X-linkage of major intellectual traits. , 1972, American journal of mental deficiency.