about
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingEndoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cellsDisruptive CHD8 mutations define a subtype of autism early in developmentCHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitorsMutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyThe ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeHeterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaHighly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceMutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndromeIn vivo modeling of the morbid human genome using Danio rerioISL1 directly regulates FGF10 transcription during human cardiac outflow formation.Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderMutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaRbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway.KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variantA Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEndoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis.Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusMitochondrial Copy Number as a Biomarker for Autism?Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development.Genetic architecture of reciprocal CNVs.De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant.Endoglin interacts with VEGFR2 to promote angiogenesis.Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomyDe Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderPathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSmall molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome
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Q24294774-B2A1E01B-9D49-47BB-9517-4063C57D3ECAQ24297899-FC8780B0-D513-41EE-9D12-AF44F59CAD8BQ24300432-4A428946-CF0D-44BE-9005-44A5A60A15F0Q24305288-3E5556EA-5E7F-457B-A248-B4BB2B9BB188Q24306218-7F794424-E9A3-48F1-B12C-E624EF34EEF5Q24308784-39D10FB5-04E4-4DC0-97F7-6A39ED0194B4Q28118506-0F480255-CCDB-47B4-8EAE-B4D3530392B0Q28235961-E97EEC12-BBFD-44F2-A63B-46C827DBDA28Q28236006-9C775AB7-98CB-46D4-A5D7-32B8C7795A1EQ30444489-9AFB2AD6-89AA-4506-A54F-A780F3853887Q30470799-A044D49A-5EE9-4ACA-BED3-E0EA7A84253FQ33919216-B85AE17C-01E6-4B27-9878-A96CF2D4A9FBQ34336711-2AA3D3C7-6868-4E32-98BF-6A257051EBAAQ34458607-E46B0730-9DB3-4F46-A805-F379D71FA8C6Q35266382-CD3F5F07-0B82-4EB2-B5F8-4080BF29CD34Q35572513-7DFE2C17-1BA4-4A67-98B1-5E9781F80664Q35788558-0A213CC2-434D-416B-AEE9-140353C69F2EQ35799103-2D4CE140-9032-461D-8173-22B0995CD3B4Q36004324-0A7FD6DA-492F-4FF5-B880-BF186E40F587Q36060885-408DB750-2F57-48D1-8FFB-B558A7F829ABQ36066614-0F65A432-4C5B-426F-A37C-7B20754852D2Q36595094-9B355020-E57C-4844-94CA-79F2BDBDD852Q36738396-7E56741F-80AF-49EC-B727-53447C306A99Q37253402-C262C024-AE00-4836-9127-340F37F02B38Q37298164-91BA8C44-90DA-4AF4-81AE-7D8EAB7EA901Q37593975-66EFE13B-5C2C-41B6-8601-53B056AC88D8Q38112901-131C12FB-43F3-448E-BAD4-54989D507750Q38993202-F4D10A42-0529-4416-8824-5623AF65342DQ41918222-E39C05AB-5542-4C44-BA8C-FD3F7BDD34C6Q43691780-9A34B9EC-DD1B-4B64-AD64-6CCA9CF174B4Q45877875-D870968F-2F31-4B55-AD50-B28030B476AAQ52699547-3804FCD2-4841-440E-BFFE-B7462A764211Q57199602-1C324F15-3C03-4548-9894-3B1D651FA60DQ57199603-28CC4A36-2FC5-4BCB-BBF4-C9602D57D42FQ57406185-AC81782D-7F1D-4CFD-BE95-A651969D7088Q58060865-FC535616-CA1C-42F3-BDE1-69A4CCDF9560Q60548369-0F3DEA06-C9C6-4B32-91D3-BF6F415C3F40
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Christelle Golzio
@ast
Christelle Golzio
@en
Christelle Golzio
@es
Christelle Golzio
@nl
Christelle Golzio
@sl
type
label
Christelle Golzio
@ast
Christelle Golzio
@en
Christelle Golzio
@es
Christelle Golzio
@nl
Christelle Golzio
@sl
prefLabel
Christelle Golzio
@ast
Christelle Golzio
@en
Christelle Golzio
@es
Christelle Golzio
@nl
Christelle Golzio
@sl
P106
P21
P31
P496
0000-0002-4420-3921