About: Stephen Robertson

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professor of pediatric genetics in New Zealand

Attributes	Values
rdf:type	Item
description	연구원 (ko) 研究者 (ja) araştırmacı (tr) эрдэмтэн (mn) изилдөөчү (ky) 研究者 (zh) հետազոտող (hy) onderzoeker (nl) professor of pediatric genetics in New Zealand (en)
rdfs:label	Stephen Robertson (en) Stephen Robertson (nl) Stephen Robertson (sl) Stephen Robertson (ast) স্টিভেন রবার্টসন (bn) Stephen Robertson (es) Stephen Robertson (tr)
skos:prefLabel	Stephen Robertson (en) Stephen Robertson (nl) Stephen Robertson (sl) Stephen Robertson (ast) স্টিভেন রবার্টসন (bn) Stephen Robertson (es) Stephen Robertson (tr)
name	Stephen Robertson (en) Stephen Robertson (nl) Stephen Robertson (sl) Stephen Robertson (ast) স্টিভেন রবার্টসন (bn) Stephen Robertson (es) Stephen Robertson (tr)
given name	wds:Q55127221-4EF04A68-F72E-4D7F-81E2-305A15E5A511
given name	Stephen
instance of	wds:Q55127221-99E1566F-71B2-4CDD-B3E7-A18C96E3B969
instance of	Homo sapiens
award received	wds:Q55127221-4D508BFA-3F22-4B40-8FA1-E97301D50BB3 wds:Q55127221-570D80AB-A40F-40CF-AF8E-0CB7B7EEF7F6 wds:Q55127221-fefeff03-435b-cf43-cf04-52c763895b50
award received	Fellow of the Royal Australasian College of Physicians Fellow of the Royal Society Te Apārangi Hercus Medal
doctoral student	wds:Q55127221-17345346-FC8A-4740-96C4-CF4D3416E355 wds:Q55127221-A66A873E-2C72-4C8A-9656-E70282355183 wds:Q55127221-BCA2F776-5376-4C52-AF63-2F08BE0EABBC
doctoral student	Mary Gray Emma M Wade Alison McEwen
occupation	wds:Q55127221-E102709D-9C4B-4C3C-BAE1-3B8C245E4498
employer	wds:Q55127221-54CAF700-34C1-4515-A679-A6500B14C9DC
sex or gender	wds:Q55127221-DF229462-E7F3-44AA-8757-EC72019252F5
on focus list of Wikimedia project	wds:Q55127221-C4CA0E33-B667-44B3-8407-BE178A2C89B0
educated at	wds:Q55127221-DA49A0D9-8D4C-4928-BF0D-92376F26BE93
family name	wds:Q55127221-031571C5-3362-4C0C-A0DF-A7932EF6FFAD
occupation	researcher
employer	University of Otago
sex or gender	male
on focus list of Wikimedia project	NZThesisProject
educated at	University of Oxford
family name	Robertson
ORCID iD	wds:Q55127221-E5448FE8-A565-4162-8993-D1BDBDC81DB1
ORCID iD	https://orcid.org/0000-0002-5181-7809
ORCID iD	0000-0002-5181-7809
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55127221
is author of	Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Cantú syndrome is caused by mutations in ABCC9. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders Molecular pathology of filamin A: diverse phenotypes, many functions. Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development Identification and Successful Negotiation of a Metabolic Checkpoint in Direct Neuronal Reprogramming. Identification of CANT1 mutations in Desbuquois dysplasia Nosology and classification of genetic skeletal disorders: 2010 revision. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype Functional copper transport explains neurologic sparing in occipital horn syndrome RefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape. Mutations in PYCR1 cause cutis laxa with progeroid features Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome Internalizing disorders and leukocyte telomere erosion: a prospective study of depression, generalized anxiety disorder and post-traumatic stress disorder Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis Mutations in two regions of FLNB result in atelosteogenesis I and III. Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). Variable Expression of Campomelic Dysplasia in a Father and his 46, XY Daughter Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Longitudinal studies to detect gene×environment interactions in common disease – Bang for your buck? A commentary on Chaufan's “How much can a large population study on genes, environments, their interactions and common diseases contribute to th Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. Mutations in ECEL1 cause distal arthrogryposis type 5D

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