about
Functional impact of global rare copy number variation in autism spectrum disordersClinical and molecular phenotype of Aicardi-Goutieres syndromeCRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaFirst implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeSALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotypeThe phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 geneIndividual common variants exert weak effects on the risk for autism spectrum disordersDe Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeChimaerism shown by cytogenetics and DNA polymorphism analysis.Down syndrome in association with features of the androgen insensitivity syndrome.An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.Screening for mismatch repair deficiency in colorectal cancer: data from three academic medical centers.Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.A genome-wide association study of recipient genotype and medium-term kidney allograft function.A locus for isolated cleft palate, located on human chromosome 2q32Severe microcephaly with normal intellectual development: the Nijmegen breakage syndromeThe X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.A genome-wide scan for genes involved in primary vesicoureteric reflux.A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature.Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.Lobular breast cancer in a CDH1 splice site mutation carrier: case report and review of the literature.Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland.Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series.Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome.Family Communication in Inherited Cardiovascular Conditions in Ireland.Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.MUTYH-Associated Polyposis: The Irish Experience>.ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.Direct single stranded sequencing from agarose of polymerase chain reaction products.Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies.Panel-Based Population Next-Generation Sequencing for Inherited Retinal DegenerationsStickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
P50
Q24596191-0EAC3772-CAA7-4BA7-8A63-EF57AF323948Q24655458-DABEF578-799A-476C-AB42-E06CF5E005E7Q24656156-FE90D365-41A5-4762-B8E7-AC7CA98F674CQ28247493-B701FDD1-4D78-4FD2-BE0D-093DD3841783Q28266426-E5A5C58F-18EA-4DB4-AC78-87F06A546CC5Q28286980-E3AA5ADC-5785-4B43-9CFF-585BC4A8DA16Q28943296-9AB99F3E-0E90-48D1-ACF7-19E9A3CF9CF6Q29147516-8D8E4871-BB0A-41C0-A874-4E0F03A83839Q33675337-BFD4B4F1-1612-4D00-B44D-8ABD9A5BA22CQ33677538-966A572A-D12E-497D-B1AE-EBB4C7BB2E4EQ33677562-FB54AC4F-F947-4D15-9285-17B8E90D9E66Q33681626-D39A8BA8-3161-4932-8331-812B2E847F05Q33775296-5E4D1B0B-0E66-4ECC-AAFA-05632793E5ABQ34237629-D2BE23A6-31EB-4050-A9C6-D4C8ACC677C2Q34319932-2A6EE3E2-2483-4FCE-B711-7C6BDBA9F72BQ34326032-4F8059E1-5D25-45DF-A7C4-6FB8AA7B72CDQ34329216-BFE24623-0397-4E4B-B41A-99F958CED7B1Q34389952-9E38E234-F0B0-40D8-B6C4-FDD1E875CF8CQ34797493-BD5EBCEE-3088-4B46-961F-04B8AF772BDEQ35249677-929BD574-E55C-44EA-A469-400BD22474D2Q35406225-C3309E49-70EA-4F27-8B79-316667485ECBQ35679363-D5E471A2-1462-4F03-9009-3E8430956961Q35828248-432FE498-4C27-471B-8501-2B479F2C5D46Q37363254-21A187D7-F1B8-4F5B-BBB8-49E7B0B1C30AQ37535775-B27A06B7-8734-4C02-ACAF-396E7A9FB886Q37786837-6025BAEA-E83E-4D19-9138-DAC703B4F56FQ38024724-3B09A767-82DD-436C-8B04-5A0C8177B3CAQ38109835-9306C11C-DA32-41B0-9F14-3285FA4D6882Q38170846-6E43479C-EFCB-4D41-8A69-328F968DD774Q38593063-B90ADAEA-CD28-491F-8DC8-6302A6D4EE9EQ38735753-DCC79808-ADAD-40DA-95E9-5D4085B560CFQ38747000-044D705E-AF24-4E9F-8FBF-0D9CEAD7B511Q38856973-8CA7DBF6-6C3B-4D67-851A-4C6B74F48B19Q38863504-53169A34-A4DE-42CB-B68B-79EF0145C366Q39394314-5327182D-9F9E-49C1-AFEA-37A968F3DE2AQ39692293-050B0856-5398-4830-8243-E49D1ECF9791Q40525281-642B8077-78E5-4C8D-9F09-4C27874B7E22Q40650006-D63C6722-3F9D-4504-9FA5-DE2C3F2527D9Q41083571-844A1499-50F7-4C58-B4A9-C711E6E9996DQ41735203-FB0E2921-AEDA-4BFB-A76C-CC74B499F7F5
P50
description
hulumtues
@sq
researcher
@en
հետազոտող
@hy
name
Andrew Green
@ast
Andrew Green
@de
Andrew Green
@en
Andrew Green
@es
Andrew Green
@fr
Andrew Green
@nl
Andrew Green
@sl
type
label
Andrew Green
@ast
Andrew Green
@de
Andrew Green
@en
Andrew Green
@es
Andrew Green
@fr
Andrew Green
@nl
Andrew Green
@sl
prefLabel
Andrew Green
@ast
Andrew Green
@de
Andrew Green
@en
Andrew Green
@es
Andrew Green
@fr
Andrew Green
@nl
Andrew Green
@sl
P106
P21
P31
P496
0000-0002-1077-7417