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Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesisComparative evolutionary analysis of VPS33 homologues: genetic and functional insightsCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyIdentification of novel VHL target genes and relationship to hypoxic response pathwaysMutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarizationGermline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibilityWhole-exome-sequencing-based discovery of human FADD deficiencyInactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teethCombined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromeX-linked cone dystrophy caused by mutation of the red and green cone opsinsThe novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardationCardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutationvon Hippel-Lindau disease: a clinical and scientific reviewGain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesCargos and genes: insights into vesicular transport from inherited human diseaseMicroarray comparative genomic hybridization in prenatal diagnosis: a reviewHomozygous PLCB1 deletion associated with malignant migrating partial seizures in infancyMutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeMeta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33Genotype-phenotype correlations in von Hippel-Lindau disease.Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.CpG island promoter hypermethylation of a novel Ras-effector gene RASSF2A is an early event in colon carcinogenesis and correlates inversely with K-ras mutations.Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family.Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorptionPheochromocytoma.Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishA novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancers.Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental studyThe transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cellsPLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.A survey of assisted reproductive technology births and imprinting disorders.TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Eamonn R Maher
@ast
Eamonn R Maher
@en
Eamonn R Maher
@es
Eamonn R Maher
@nl
type
label
Eamonn R Maher
@ast
Eamonn R Maher
@en
Eamonn R Maher
@es
Eamonn R Maher
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EAMONN MAHER
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prefLabel
Eamonn R Maher
@ast
Eamonn R Maher
@en
Eamonn R Maher
@es
Eamonn R Maher
@nl
P1053
A-9507-2008
P106
P31
P496
0000-0002-6226-6918