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.
about
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientX-linked disorders with cerebellar dysgenesisCASK Functions as a Mg2+-independent neurexin kinaseRecurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardationXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingEvolution of CASK into a Mg2+-sensitive kinaseFragile X and X-linked intellectual disability: four decades of discoveryWhat we know and would like to know about CDKL5 and its involvement in epileptic encephalopathyCdk5 promotes synaptogenesis by regulating the subcellular distribution of the MAGUK family member CASKA novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.Clinical impacts of genomic copy number gains at Xq28X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.Molecular cytogenetics and cytogenomics of brain diseases.Imaging genetics of structural brain connectivity and neural integrity markers.Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies.Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.The functional impact of structural variation in humans.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation conditionCASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesThe mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.Synapse assembly and neurodevelopmental disordersGeneration and characterization of an Nxf7 knockout mouse to study NXF5 deficiency in a patient with intellectual disability.XLMR genes: update 2007.Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in NeurodevelopmentClinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.Nxf7 deficiency impairs social exploration and spatio-cognitive abilities as well as hippocampal synaptic plasticity in mice.Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.CNV analysis in 169 patients with bladder exstrophy-epispadias complex.Characterisation of CDKL5 Transcript Isoforms in Human and MouseXp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disordersSubmicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationMICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation.Distal Xq duplication and functional Xq disomy.
P2860
Q21202859-E8C718F7-97FF-4951-ACEB-8AFCC61920FFQ21202871-B3403036-6DB7-4434-844A-D8EA1653FF5DQ24323323-BC1815A2-A1D5-4FC2-BAB2-09EE3472D7EFQ24629022-2A03089D-1956-4979-8E9F-E69E4D4C0949Q24632796-F906AE8A-0DF7-4556-9A5E-0F5C5DB7A7CAQ26269893-A8A31071-3DFF-4BA5-93FB-FD15CCA01945Q27027343-7AF63934-48D6-45F4-BCD9-AF6EE6D8433EQ28270699-DBB61265-A271-49F9-81A9-63FB832C1B4DQ28591484-D447B153-CE97-4D47-9B06-33F45BE25855Q30413008-9EA48675-E2F9-4969-907E-44B1F91D10ACQ30484771-09920491-9A1B-4F14-A0E7-B338986EF0A5Q31077840-9222BE99-CB92-4408-A7D7-DBD26B91345CQ33307788-D2A62E02-AD8D-44E5-AC0E-6DD1F10922E3Q33464340-A4078D34-4E0E-47BB-B451-42A87BF638F4Q33516442-4A0660F7-CA27-41A9-83C7-4F90F3E7AD14Q33752098-0BBD6EC1-6A95-41EB-A2B3-D8F388DC0716Q33845730-05C22085-94EA-41D9-9A07-4F258FB25885Q33847296-3DB42553-ADF9-458E-8049-8BB067C1F313Q34050944-4B052650-2088-4C2D-9FF1-3DDCADEC6371Q34328538-8D680913-8570-4A4C-A345-9E357C47F667Q34328657-55C14367-884D-4907-974F-C62D414A6B29Q34329072-B45FDA79-1492-4299-9F59-1EECB432FDA7Q34352067-BBDC79AA-C379-4B5A-844E-EC3D1C729F1FQ34429178-7E133FF6-0B0F-4410-A184-C150E291762FQ34675836-2A075D21-11D3-4768-89C4-F168EBD55201Q34723244-05B39944-7570-4B75-82EC-B74555B465AAQ34736415-C0D1EF48-A229-44B3-ADC1-DABEBAF9D8A5Q34767093-5F12A27E-3CBB-4C3B-8ED7-0F1AF031FEBBQ35527346-A374020C-843F-47C2-BFF1-C24DD4B36AC9Q35575754-B2A23C50-7D5D-4D4F-89EE-BB3A853B6AFEQ35722175-C7507D37-738D-47C2-A0C4-04B53EC0AF1DQ35837309-1E032C10-77CD-4924-8D83-A6D1F93EDA3FQ35888762-24B30BCC-5FF9-4C4D-9216-B917866E4B64Q36006429-4C2F9AFD-2425-485A-9234-1DCF2D81F3DDQ36055559-39A0E72E-1841-4C35-AC68-CC45157910E7Q36591206-3E8E5995-E494-4AA9-9CCE-14BAF045A0E8Q36611957-3F9A66AB-FD74-401D-BE80-20D5D06AFE25Q36718273-3020E56B-0442-45DC-ACD8-9EF21D35265AQ37043658-CFF00D8B-623A-4F24-8495-D3C4A7C31A97Q37114117-14130234-48F5-482F-92DC-1EF4F724A3DB
P2860
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.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Detection of genomic copy numb ...... sed gene dosage of XLMR genes.
@en
Detection of genomic copy numb ...... sed gene dosage of XLMR genes.
@nl
type
label
Detection of genomic copy numb ...... sed gene dosage of XLMR genes.
@en
Detection of genomic copy numb ...... sed gene dosage of XLMR genes.
@nl
prefLabel
Detection of genomic copy numb ...... sed gene dosage of XLMR genes.
@en
Detection of genomic copy numb ...... sed gene dosage of XLMR genes.
@nl
P2093
P2860
P356
P1433
P1476
Detection of genomic copy numb ...... ased gene dosage of XLMR genes
@en
P2093
Guy Froyen
Hilde Van Esch
Jean-Pierre Fryns
Joris R Vermeesch
Karen Hollanders
Koen Devriendt
Marijke Bauters
Peter Marynen
P2860
P304
P356
10.1002/HUMU.20564
P577
2007-10-01T00:00:00Z