about
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsChimeric Genes in Deletions and Duplications Associated with Intellectual DisabilityA subtelomeric translocation apparently implied in multiple abortions.Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrumGeneration of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.Phenotype profiling of patients with intellectual disability and copy number variations.Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.Infectious and immunologic phenotype of MECP2 duplication syndrome.In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder PatientsCorpus callosum abnormalities and the controversy about the candidate genes located in 1q44.Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors.The doublecortin gene, a new molecular marker to detect minimal residual disease in neuroblastoma.Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.There is no evidence that the SDHB gene is involved in neuroblastoma development.Minimal residual disease in neuroblastoma: to GAGE or not to GAGE.Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.A novel TP53 germ-line mutation identified in a girl with a primitive neuroectodermal tumor and her father.[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence].Recombinant X chromosome in a prenatal diagnosis.Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features.De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci.Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.Screening for microdeletions of the X-chromosome in non-specific mental retardation.Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.Minimal disease detection in peripheral blood and bone marrow from patients with non-metastatic neuroblastoma.Epigenetic alterations in disseminated neuroblastoma tumour cells: influence of TMS1 gene hypermethylation in relapse risk in NB patients.Mutation screening of AURKB and SYCP3 in patients with reproductive problems.Subtelomeric analysis of pediatric astrocytoma: subchromosomal instability is a distinctive feature of pleomorphic xanthoastrocytoma.De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental DisorderA Novel Mutation of in a Patient with Schaaf-Yang Syndrome and HypopituitarismPure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome
P50
Q28119030-DB1E9A84-B947-4523-80B7-1F9E044E7E19Q30855121-B82AA545-DFE7-4AD0-B6ED-9806EF6E5EA3Q36268169-5DFCDE1E-50F8-4651-AB95-3044A2FEA972Q37397632-718BD4FB-494F-4034-888C-5D7770EF266CQ37662250-1E3F2853-DF7F-4332-8EAD-B6A0F1213702Q37891733-74DE5456-968C-4220-9FD8-531A61CE9801Q38708200-9EE6DB19-70CC-484C-957B-5775440414BBQ39195066-633A57B3-5260-4F7C-BE17-4AA518529A94Q40708694-AA8936C1-56B2-44D1-ABBB-2573D45F69DFQ41344253-6171C040-7E80-4C36-8EF6-DC16E2C8E0D0Q41907863-8EF60AC8-EE2E-4D34-881E-35AA45CC5A1CQ41937067-9417A936-3E12-40EE-A182-85DD36A6C241Q41937587-2F356268-0E02-495A-B046-04FA0DB9D62DQ45138010-3DADDAB1-78CF-4CED-B025-5BDD01F705C1Q45267671-05D2B8F4-E55C-4F0E-8ABE-5C14AA31F046Q45877972-70318C20-2FEF-456F-85D4-DA2FB75F8422Q46955314-4AF0C047-B233-48B4-BCFF-41F28B1EE13EQ47321927-A8382C74-FB62-414A-BF67-5ADB407960CDQ48150706-38060205-5921-44AC-B253-4F1D29A532D5Q48402893-58A7D77B-B22C-4BEE-A04A-25095CE737D1Q50055275-861BD0DF-6CA5-4E9D-AC07-1033BB606FDEQ50094283-3ECB4C9F-3BA7-4453-AD11-5C8C2ADF6F80Q50105155-215150B8-2E38-40FE-8A1E-D442D8335BAAQ51585991-7D9BA0BC-7DB4-4128-BC91-4B33CF37ACBAQ51891881-7526D28D-9D67-4D72-AD34-7661997FD06EQ51907899-9AB6F931-4A6D-4EF7-9AED-47E32646E9B0Q51916565-1D7EBE3F-628E-40D8-9A8F-362EFB195D7CQ51935929-92A38601-2853-4562-85A3-2E1B59875342Q51944784-839F0109-8E1E-4101-9F77-848D7F761693Q51964852-C24FA2F6-778A-4C56-9AEF-E4793C27E301Q52927529-70B37920-A21E-4634-B791-CB7DC5A8C422Q53459641-1FB810D8-E84A-47BE-B899-353E4D1C12FEQ53534457-9975B7B6-B6C3-4BD5-9476-8DC3787ED8F2Q54362742-A24DB663-3890-4221-A5FD-A24B508505F7Q54442349-03AD9CA0-5DB6-4E71-834E-DD53575833E2Q54475078-3891D398-9468-47B8-936D-A765915EF5FFQ55465502-E113CB17-C7E7-49AE-80FA-2E8CD600DB42Q56395221-B5DA5B4F-E882-4260-839E-31D9F3C8DC15Q57496443-2EEB71C5-A08C-4F80-8E4E-F3CCE50DFA63Q57732320-AD8AF00A-7094-493A-80D1-4166F22693AA
P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Carmen Orellana
@ast
Carmen Orellana
@en
Carmen Orellana
@es
Carmen Orellana
@nl
Carmen Orellana
@sl
type
label
Carmen Orellana
@ast
Carmen Orellana
@en
Carmen Orellana
@es
Carmen Orellana
@nl
Carmen Orellana
@sl
prefLabel
Carmen Orellana
@ast
Carmen Orellana
@en
Carmen Orellana
@es
Carmen Orellana
@nl
Carmen Orellana
@sl
P1053
B-1925-2009
P106
P21
P31
P3829
P496
0000-0003-4271-5859