about
Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22Identification and characterization of AFG3L2, a novel paraplegin-related geneMID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during developmentA member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardationThe oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.Identification and characterization of a novel serine-threonine kinase gene from the Xp22 regionIdentification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 regionHuman FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genesA cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathyA novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest originOpitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22Identification of the gene for oral-facial-digital type I syndromeOpitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 regionHost response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding geneAn organelle-specific protein landscape identifies novel diseases and molecular mechanismsIdentification of novel antigens with induced immune response in monoclonal gammopathy of undetermined significance.The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets.Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathwayCNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyIL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system.Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development.Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeX-inactivation and human disease: X-linked dominant male-lethal disorders.The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo.The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.The molecular basis of oral-facial-digital syndrome, type 1.Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediatorsThe primary cilium in different tissues-lessons from patients and animal models.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
P50
Q22010050-363EB002-EF55-418C-B75A-4EE69CB641A0Q22010227-89E7D69C-8163-4986-AB79-B0754C8267C0Q22010244-6B7D618C-C1F1-4B6F-A6C0-32132243124CQ22254646-A54EF75B-9445-49F3-926E-C18DF038040FQ24300345-8E8FE24D-A533-4FC2-9533-EB48985EB6F4Q24308698-20C9F655-0063-49DA-B41C-DFB07B8B2A9CQ24311516-BD2B06DF-35AD-4EF4-A04E-527797271B54Q24312772-1454E8B5-D764-4829-80EC-9BBFE194E347Q24314592-FD927DE1-D55F-467B-8DCF-4D3BD5A0D3A8Q24316339-D3F91F77-DD69-43B6-80E9-4555E372B0BFQ24323194-9D0D9E65-D348-4943-8EC1-E6DD6DB69F03Q24536160-F351554D-E054-4139-9AAD-44DF358873D3Q24539178-15D9BF1D-3AA2-44F2-A503-132961D074A8Q28119174-16886DB9-96A9-4990-ADFC-FA20D69E6E27Q28285297-164018BB-EB14-4479-BE67-5E9F4C3DF219Q29147481-B7D74419-6961-4AD9-B7A7-6733833F0744Q33479917-D4E4A144-EB78-4AC6-9C85-348F714030C7Q33682032-56CEEEAA-363A-459D-BB4F-EF2EE78B324EQ33947853-B9E44329-53E1-448C-A8BD-94873EBBDE82Q33960375-BD7D6E4A-7E0A-480B-A202-60BDC360A987Q34093826-5ED5257A-6945-40AA-97EE-1C890EAB4EC5Q34143979-3FFDB0F5-1E0F-4256-A55F-E211588D879AQ34178550-0610D947-1906-4E70-9E5E-FFDDB6561511Q34202205-6B124729-DED5-4006-B889-E7B97BA1D024Q34450526-54237559-2659-4F2C-9476-08EB6F1C3E12Q34541428-CFD6D71A-1C89-4A55-A631-5B5B61D1C27BQ34721393-EAAC4C7A-5928-4904-B74F-378841108C0AQ36001944-96E8926E-CE85-4AA5-A3FD-DBF4262769DFQ36464858-206763A4-3D0C-4E1F-B710-F5D1F694E34FQ36602142-0829A651-ED38-4808-9BAE-A684B7BC80E0Q36970226-9B8823ED-77BE-4DD0-90B5-F22E9D2D1A62Q37161998-4972350E-4AF0-432D-B856-67DD27783AF4Q37624566-587B41FA-27F5-416A-8F74-BD9375432E65Q37726645-529D7ECA-F891-4611-9047-C1359CD0093FQ37796679-91DB7AB5-0CE6-452E-A85A-E5C34256A00FQ39176592-1B507D68-EBF7-4C4E-A93B-1A88CC18A1C6Q39231616-E2FB5532-D496-44E5-84E1-C1549F2ADC07Q39635971-88FC9919-64A4-4A21-B1B1-038FF590CF89Q39849276-372A1B96-6546-4198-9A85-E06A787CECB0Q40100355-5A10C0C4-6EBE-41BE-A41D-FDE0CD150090
P50
description
researcher ORCID: 0000-0001-5588-4569
@en
wetenschapper
@nl
name
Brunella Franco
@ast
Brunella Franco
@en
Brunella Franco
@es
Brunella Franco
@nl
Brunella Franco
@sl
type
label
Brunella Franco
@ast
Brunella Franco
@en
Brunella Franco
@es
Brunella Franco
@nl
Brunella Franco
@sl
prefLabel
Brunella Franco
@ast
Brunella Franco
@en
Brunella Franco
@es
Brunella Franco
@nl
Brunella Franco
@sl
P106
P1153
7004397014
P21
P31
P496
0000-0001-5588-4569