• Disease
  • Fibroblast
  • Fibroblast Growth
  • Fibroblast Growth Factor
  • Robin M Winter

    Prominent publications by Robin M Winter

    KOL Index score: 15331

    The association of the Noonan phenotype with neurofibromatosis type 1 (NF1) was first noted by Allanson et al. [Am J Med Genet 1985;21:457-462.] and 30 further cases have subsequently been reported. It has been suggested that this phenotype is more common than previously appreciated, as Colley et al. [Clin Genet 1996;49:59-64.] examined 94 sequentially identified patients with NF1 from their genetic register and found Noonan features in 12. A 3-bp deletion of exon 17 of the NF1 ...

    Also Ranks for: Nf1 Gene |  noonan syndrome |  neurofibromatosis type |  nfns mutations |  signaling peptides
    KOL Index score: 11145

    Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects1. Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, although the condition is genetically heterogeneous. Mutation analysis identified five frameshift mutations in FRAS1, which encodes one member of a family of novel proteins related to an extracellular matrix (ECM) blastocoelar protein found in ...

    Also Ranks for: Fraser Syndrome |  extracellular matrix |  blebbed phenotype |  mutations fras1 |  inbred strains mice
    KOL Index score: 11026

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 ...

    Also Ranks for: Cleft Palate |  linkage bcl3 |  role etiology |  autosomal dominant |  suggestive evidence
    KOL Index score: 11012

    Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities. We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. Six of the seven Pfeiffer syndrome ...

    Also Ranks for: Fgfr2 Gene |  identical mutations |  crouzon syndrome |  type 2 receptors |  fibroblast growth factor
    KOL Index score: 10506

    Angelman syndrome (AS) is an imprinted neurobehavioral disorder characterized by mental retardation, absent speech, excessive laughter, seizures, ataxia, and a characteristic EEG pattern. Classical lesions, including deletion, paternal disomy, or epigenetic mutation, are confirmatory of AS diagnoses in 80% of cases. Loss-of-function mutations of the UBE3A gene have been identified in approximately 8% of AS cases, failing to account for the remaining patient population, and there appears ...

    Also Ranks for: Angelman Syndrome |  mecp2 mutations |  ube3a gene |  proteins rett |  mental retardation
    KOL Index score: 10299

    Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial sutures. Several different missense and other mutations have been identified in Crouzon syndrome patients, clustering around the third immunoglobulin-like domain. We report here the identification of a mutation in the transmembrane region of FGFR3, common to three unrelated patients with classical ...

    Also Ranks for: Crouzon Syndrome |  fibroblast growth factor |  acanthosis nigricans |  type 3 receptors |  premature fusion
    KOL Index score: 10196

    Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X-linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated in the XLOS form, MID1, encodes a protein containing a RING-Bbox-Coiled-coil motif belonging to the tripartite motif (TRIM) family. To further clarify the molecular basis of XLOS, we have undertaken mutation analysis of the MID1 gene in ...

    Also Ranks for: Mid1 Gene |  opitz syndrome |  hypertelorism hypospadias |  clinical spectrum |  mutation analysis
    KOL Index score: 9999

    The causative relationship between several of the syndromic forms of craniosynostosis and mutations in the fibroblast growth factor receptor (FGFR) loci is now well established. However, within the group of patients with craniosynostosis, there are several families and sporadic cases whose clinical features differ in variable degrees from the classically described syndromes of craniosynostosis. In this communication we present novel FGFR2 mutations associated with a spectrum of ...

    Also Ranks for: Fibroblast Growth Factor |  craniosynostosis mutations |  type 2 receptors |  sporadic cases |  transmembrane domain
    KOL Index score: 9641

    BACKGROUND: No explanation for moderate to severe mental retardation is apparent in about 40% of cases. Although small chromosomal rearrangements may account for some undiagnosed cases, a lack of genome-wide screening methods has made it impossible to ascertain the frequency of such abnormalities.

    METHODS: A fluorescence in-situ hybridisation (FISH) test was used to examine the integrity of chromosome ends in 284 children with unexplained moderate to severe retardation, and in 182 ...

    Also Ranks for: Chromosomal Rearrangement |  unexplained mental |  severe retardation |  situ hybridization |  familial cases


    Robin M Winter: Influence Statistics

    Sample of concepts for which Robin M Winter is among the top experts in the world.
    Concept World rank
    single dysmorphologists #1
    birth rapid progress #1
    syndromes complexity #1
    publication abnormalities feingold #1
    d7s503 breakpoints #1
    hypoplastic nose exophthalmos #1
    pedigree acrocephalosyndactylia #1
    form 5q #1
    gene pfeiffer #1
    association rflps #1
    chotzen gene #1
    sporadic rett #1
    gremlin publication child #1
    underlying mutations syndromes #1
    balanced translocations families #1
    saethrechotzen fgfr3 #1
    data crouzon syndrome #1
    overview1 paper #1
    radial ray defect #1
    specific gcg #1
    7 craniosynostoses #1
    osteosclerosis syndrome #1
    22q133 qter #1
    typical limb defects #1
    acrorenalocular syndromes haploinsufficiency #1
    characteristic broad thumbs #1
    mutation rates haemophilia #1
    theta subjects #1
    trigonocephaly gyral malformations #1
    palate rflps #1
    familial pfeiffer syndrome #1
    eya4 candidate #1
    syndromic craniosynostosis complementarity #1
    haplotypes humans formins #1
    linkage saethrechotzen syndrome #1
    confirm haploinsufficiency #1
    wellknown search engines #1
    7p 5q #1
    male mutation ratio #1
    chotzen cases #1
    genetic contribution defects #1
    unilateral agenesis lung #1
    7p acrocephalosyndactyly locus #1
    british persons #1
    generalised accumulation desmosterol #1
    fgfr2 crouzon syndrome #1
    fgfr1 publication abnormalities #1
    dysostosis dna #1

    Key People For Fibroblast Growth Factor

    Top KOLs in the world
    David M Ornitz
    fibroblast growth factor transgenic mice fgf receptor
    Moosa Mohammadi
    fibroblast growth factor fgf receptor crystal structure
    NOBUYUKI Nobuyuki
    fibroblast growth factor rat brain insulin receptor
    Schlessinger Schlessinger
    egf receptor growth factor tyrosine kinases
    Lewis T Williams
    growth factor ras p21 pdgf receptor
    Avner Yayon
    fibroblast growth factor heparan sulfate fgf receptors

    Robin M Winter:Expert Impact

    Concepts for whichRobin M Winterhas direct influence:Fibroblast growth factor,  Short stature,  Cleft palate,  Duane anomaly,  Mental retardation,  Angelman syndrome,  Crouzon syndrome,  Publication abnormalities.

    Robin M Winter:KOL impact

    Concepts related to the work of other authors for whichfor which Robin M Winter has influence:Situ hybridization,  Mental retardation,  Fibroblast growth factor,  Human pair,  Cleft palate,  Apert syndrome,  Prenatal diagnosis.



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    Genes, Development and Disease Theme, Institute of Child Health, WC1N 1EH, London, UK | Clinical and Molecular Genetics, Institute of Child Health, London, UK | Institute of Child Health, University College London, London, UK | Institute of Child Hea