about
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acidMutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossRefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape.Mutations in PYCR1 cause cutis laxa with progeroid featuresDominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndromeTerminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneMutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromeSkeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disordersMutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal DysplasiaAutosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable signPeriventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneMutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentMutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.Mutations in ECEL1 cause distal arthrogryposis type 5DPeritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature.A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.Internalizing disorders and leukocyte telomere erosion: a prospective study of depression, generalized anxiety disorder and post-traumatic stress disorder.Periventricular heterotopia in common microdeletion syndromesLinkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles SyndromeLocalized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanismsFunctional copper transport explains neurologic sparing in occipital horn syndrome.Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III).Newborn screening: new developments, new dilemmas.Sotos syndrome and cutis laxa.Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.Molecular pathology of filamin A: diverse phenotypes, many functions.Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous DysplasiaAssociation of mutations in FLNA with craniosynostosis.Cantú syndrome is caused by mutations in ABCC9.Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.Telomere length and periodontal attachment loss: a prospective cohort study.Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Stephen Robertson
@ast
Stephen Robertson
@en
Stephen Robertson
@es
Stephen Robertson
@nl
Stephen Robertson
@sl
type
label
Stephen Robertson
@ast
Stephen Robertson
@en
Stephen Robertson
@es
Stephen Robertson
@nl
Stephen Robertson
@sl
prefLabel
Stephen Robertson
@ast
Stephen Robertson
@en
Stephen Robertson
@es
Stephen Robertson
@nl
Stephen Robertson
@sl
P106
P21
P31
P496
0000-0002-5181-7809