Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
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Peter Marynen | Rodney Scott | Patrick S Tarpey | Michael Field | Michael R Stratton | Cliff Meldrum | Damien Sanlaville | F Lucy Raymond | Jamel Chelly | Jean-Pierre Fryns | Guy Froyen | Marijke Bauters | J. Gécz | M. Stratton | P. Futreal | R. Scott | P. Tarpey | P. Marynen | C. Schwartz | H. Ropers | H. Van Esch | A. Whibley | H. Bokhoven | C. Meldrum | M. Partington | G. Turner | F. Raymond | J. Fryns | I. Järvelä | H. van Bokhoven | J. Chelly | H. Esch | F. Abidi | M. Corbett | L. Vandeleur | A. Hackett | M. Field | F. Laumonnier | E. Ranieri | D. Sanlaville | D. Mowat | Lucianne Vandeleur | Charles E Schwartz | Gillian Turner | P Andrew Futreal | Michael Partington | G. Froyen | David Mowat | Hans van Bokhoven | Hans-Hilger Ropers | Annabel Whibley | M. Bauters | M. Peippo | Enzo Ranieri | Hilde Van Esch | Jozef Gécz | Anna Hackett | Mark Corbett | Joke Vandewalle | Irma Jarvela | Owen Lawrence | Karen Govaerts | Frederic Laumonnier | Fatima Abidi | Maarit Peippo | Marjatta Sipponen | G. Froyen | K. Govaerts | I. Jarvela | J. Vandewalle | M. Sipponen | O. Lawrence | R. Scott | R. Scott | Lucianne Vandeleur | Marijke Bauters | R. Scott
[1] 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.
[2] Song-Yu Yang,et al. HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. , 2007, Molecular genetics and metabolism.
[3] J. Veltman,et al. High-resolution genomic microarrays for X-linked mental retardation , 2007, Genetics in Medicine.
[4] Howard Schulman,et al. Global changes to the ubiquitin system in Huntington's disease , 2007, Nature.
[5] Pawel Stankiewicz,et al. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. , 2007, Current opinion in genetics & development.
[6] M. Ehlers,et al. Emerging Roles for Ubiquitin and Protein Degradation in Neuronal Function , 2007, Pharmacological Reviews.
[7] C. Schwartz,et al. The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. , 2007, American journal of human genetics.
[8] Andrew Menzies,et al. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. , 2007, American 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] S. Korman. Inborn errors of isoleucine degradation: a review. , 2006, Molecular genetics and metabolism.
[11] A. Vianna-Morgante,et al. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. , 2006, American journal of human genetics.
[12] L. Shaffer,et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. , 2006, The Journal of pediatrics.
[13] H. Ropers. X-linked mental retardation: many genes for a complex disorder. , 2006, Current opinion in genetics & development.
[14] A. Musio,et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations , 2006, Nature Genetics.
[15] 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.
[16] Kiyoko F. Aoki-Kinoshita,et al. From genomics to chemical genomics: new developments in KEGG , 2005, Nucleic Acids Res..
[17] D. Campion,et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy , 2006, Nature Genetics.
[18] M. Rauh,et al. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) , 2005, Nature Genetics.
[19] Song-Yu Yang,et al. 3‐Hydroxyacyl‐CoA dehydrogenase and short chain 3‐hydroxyacyl‐CoA dehydrogenase in human health and disease , 2005, The FEBS journal.
[20] 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.
[21] H. Scrable,et al. Maintaining appearances--the role of p53 in adult neurogenesis. , 2005, Biochemical and biophysical research communications.
[22] H. Willard,et al. X-inactivation profile reveals extensive variability in X-linked gene expression in females , 2005, Nature.
[23] J. Gécz,et al. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. , 2005, American journal of human genetics.
[24] A. Chung,et al. Over-expression of human UREB1 in colorectal cancer: HECT domain of human UREB1 inhibits the activity of tumor suppressor p53 protein. , 2004, Biochemical and biophysical research communications.
[25] Ken Inoue. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2 , 2005, Neurogenetics.
[26] Christopher A Ross,et al. The ubiquitin-proteasome pathway in Parkinson's disease and other neurodegenerative diseases. , 2004, Trends in cell biology.
[27] M. Vila,et al. L‐3‐hydroxyacyl‐CoA dehydrogenase II protects in a model of Parkinson's disease , 2004, Annals of neurology.
[28] R. Wanders,et al. Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases. , 2004, Molecular genetics and metabolism.
[29] M Bobrow,et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features , 2004, Journal of Medical Genetics.
[30] J. Gécz. The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain. , 2004, Frontiers in bioscience : a journal and virtual library.
[31] Ton Feuth,et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. , 2003, American journal of human genetics.
[32] Daniel Pinkel,et al. Genomic microarrays in human genetic disease and cancer. , 2003, Human molecular genetics.
[33] J. Lupski,et al. Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies , 2003, Journal of Investigative Medicine.
[34] R. Wanders,et al. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. , 2003, American journal of human genetics.
[35] Rafael A Irizarry,et al. Exploration, normalization, and summaries of high density oligonucleotide array probe level data. , 2003, Biostatistics.
[36] H. Leonard,et al. The epidemiology of mental retardation: challenges and opportunities in the new millennium. , 2002, Mental retardation and developmental disabilities research reviews.
[37] Ping Fang,et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome , 1997, Nature Genetics.
[38] M. Lalande,et al. UBE3A/E6-AP mutations cause Angelman syndrome , 1996, Nature Genetics.
[39] A. Donnelly,et al. Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). , 1996, American journal of medical genetics.
[40] M. Kaufman,et al. High-frequency developmental abnormalities in p53-deficient mice , 1995, Current Biology.
[41] J. Mulley,et al. X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization. , 1994, American journal of medical genetics.
[42] J. Mulley,et al. Pericentromeric genes for non-specific X-linked mental retardation (MRX). , 1994, American journal of medical genetics.