• Disease
  • Apert
  • Apert Syndrome
  • M Michael Cohen

    Prominent publications by M Michael Cohen

    KOL Index score: 11383

    In the hedgehog signaling network, mutations result in various phenotypes, including, among others, holoprosencephaly, nevoid basal cell carcinoma syndrome, Pallister-Hall syndrome, Greig cephalopolysyndactyly, Rubinstein-Taybi syndrome, isolated basal cell carcinoma, and medulloblastoma. Active Hedgehog ligand is double lipid modified with a C-terminal cholesterol moiety and an N-terminal palmitate. Transport active Hedgehog from the signaling cell to the responding cell occurs through ...

    Also Ranks for: Signaling Network |  target genes |  hedgehog proteins |  receptors cell |  plasma membrane
    KOL Index score: 10637

    The purpose of this study is to describe and analyze Apert and Crouzon skulls from three-dimensional (3-D) reconstructions of CT-scans. 12 Apert patients and 19 with Crouzon syndrome were included in the study. The age range was 0 to 23 years. All CT-scannings were carried out according to the same protocol with a slice thickness of 2 or 4 mm and 3-D reconstructions of the craniofacial region included midsagittal and horizontal cuts. A number of qualitative characteristics of the ...

    Also Ranks for: Crouzon Syndrome |  cranial development |  premature fusion |  slice thickness |  base apert
    KOL Index score: 10415

    The underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level. However, many patients with familial or sporadic craniosynostosis do not have the classical findings of those craniosynostosis syndromes. Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. In this ...

    Also Ranks for: Fibroblast Growth Factor |  craniosynostosis syndrome |  receptor 3 |  point mutation |  coronal synostosis
    KOL Index score: 9895

    There are significant differences in the ocular manifestations of Apert and Crouzon syndromes. Here, we present qualitative and quantitative data about the oculo-orbital region to demonstrate these differences. Although ocular protosis and hypertelorism characterize both disorders, the nature of the orbital dystopia differs. In Crouzon syndrome, ocular proptosis is primarily caused by retrusion of the lateral and inferior orbital margins with a very short orbital floor. In Apert ...

    Also Ranks for: Crouzon Syndrome |  ocular manifestations |  cranial base |  optic atrophy |  lateral orbital wall
    KOL Index score: 8604

    Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly; agenesis of the corpus callosum; pituitary abnormalities; hindbrain abnormalities; syntelencephaly; aprosencephaly/atelencephaly; neural tube defects; facial anomalies; median cleft lip; minor facial anomalies; single maxillary central incisor; holoprosencephaly-like phenotype; epidemiology; genetic causes of holoprosencephaly; teratogenic causes of ...

    Also Ranks for: Proteins Holoprosencephaly |  transcription factors |  gli2 mutations |  patched receptors |  facial anomalies
    KOL Index score: 8478

    Bone and cartilage and their disorders are addressed under the following headings: functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; epithelial-mesenchymal interaction, condensation and differentiation; osteoblasts, markers of bone formation, osteoclasts, components of bone, and pathology of bone; chondroblasts, markers of cartilage formation, secondary cartilage, components of cartilage, and pathology of cartilage; intramembranous and endochondral ...

    Also Ranks for: Bone Cartilage |  runx genes |  wnt signaling |  beta catenin |  osteoblasts osteoclasts
    KOL Index score: 8312

    We have characterized another subset of acute nonlymphocytic leukemia (ANLL) based on the cytogenetic and morphologic findings in a group of nine patients. Five patients had chromosomal analyses performed at the University of Chicago, two patients were studied at the All-Union Cancer Research Center in Moscow, and one patient each was studied at the University of Maryland and at Fairfax Hospital in Fairfax, Virginia. All nine patients had a reciprocal translocation involving the short ...

    Also Ranks for: Marrow Basophils |  increased numbers |  human female humans |  t69 anll |  excess blasts
    KOL Index score: 8124

    A phenotypic and genotypic survey was conducted on 36 Apert syndrome patients. In all but one patient, an FGFR2 mutation, either S252W or P253R, was found in exon IIIa (exon U or 7). The frequency was 71% and 26%, for the mutations S252W and P253R, respectively. These mutations occur in the linker region between immunoglobulin-like domains II and III, which are involved in activation of the receptor by ligand binding and dimerization. The fact that one patient did not have a mutation in ...

    Also Ranks for: Apert Syndrome |  fgfr2 mutations |  phenotypic features |  s252w p253r |  exon iiia
    KOL Index score: 7379

    Proteus syndrome is a rare and highly variable hamartomatous syndrome that can affect multiple organ systems. It is characterized by hyperplastic lesions of connective tissue, vascular malformations, linear verrucous epidermal nevi, and hyperostoses. The cause of the disorder is unknown, but the current working hypothesis is that it is caused by a mosaic alteration that leads to a highly variable phenotype, equal sex ratio, sporadic occurrence, and discordant monozygotic twins. Herein we ...

    Also Ranks for: Proteus Syndrome |  preschool diagnosis |  vascular malformations |  connective tissue |  hemihyperplasia multiple
    KOL Index score: 7249

    The purpose of this paper is to provide a new perspective on craniosynostosis by correlating what is known about sutural biology with the events of craniosynostosis per se. A number of key points emerge from this analysis: 1) Sutural initiation may take place by overlapping, which results in beveled sutures, or by end-to-end approximation, which produces nonbeveled, end-to-end sutures. All end-to-end sutures occur in the midline (e.g., sagittal and metopic) probably because embryonic ...

    Also Ranks for: Sutural Biology |  sutures craniosynostosis |  suture closure |  craniosynostoses female |  biomechanical phenomena
    KOL Index score: 7172

    Steven Pfeiffer syndrome pedigrees (three 3 generation and four 2 generation) have been recorded to date in addition to at least a dozen sporadic cases. Autosomal dominant inheritance with complete penetrance is characteristic of the 7 familial instances. Variable expressivity has involved mostly the presence or absence of syndactyly and the degree of syndactyly when present. Classic Pfeiffer syndrome is designated type I. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet ...

    Also Ranks for: Pfeiffer Syndrome |  clinical subtypes |  cloverleaf skull |  early death |  differential diagnosis
    KOL Index score: 6738

    We report one new case of congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome) and one case of a diencephalic nodule associated with craniofacial malformations. Based on a review of 11 cases of Pallister-Hall syndrome documented by pathological examination, two cases presumed by phenotype, three cases of hypothalamic hamartoma with craniofacial anomalies only, and several cases of related interest, we delineate the clinical, neuroradiologic, and neuropathologic ...

    Also Ranks for: Hypothalamic Hamartoblastoma |  pallister‐hall syndrome |  differential diagnosis |  precocious puberty |  heart defects
    KOL Index score: 6725

    Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism--an inconsequential tissue culture artefact; or (2) true mosaicism--occurring in approximately 0.20 per cent of amniocenteses with a significant impact on pregnancy outcome. Mosaicism for trisomy 9 was observed in an amniotic fluid specimen obtained for advanced maternal age with two cell lines [46,XX (46 per cent)/47,XX, +9 (54 per cent)] ...

    Also Ranks for: Trisomy 9 |  prenatal diagnosis |  chromosomal mosaicism |  pregnancy outcome |  blood sampling


    M Michael Cohen: Influence Statistics

    Sample of concepts for which M Michael Cohen is among the top experts in the world.
    Concept World rank
    dicentric element cbanding #1
    holoprosencephaly matsunaga #1
    dicentric x‐isochromosome xqi #1
    perspectives craniofacial asymmetry #1
    anterior cranium bifidum #1
    hemihypertrophy hemihypoplasia #1
    apert newborn #1
    hemihypoplasia tissue #1
    specificity breakage #1
    saethre–chotzen syndrome #1
    craniosynostoses syndromes #1
    medical specialists article #1
    performance life expectation #1
    chromosome cytogenetic investigation #1
    drug chromosomes #1
    activating akt1 mutation #1
    foetal circulation2467 #1
    pfeiffer syndrome types #1
    proteus syndrome hemihyperplasia #1
    hydrocephaly holoprosencephaly #1
    apert calvaria #1
    nevi proteus #1
    lower airway compromise #1
    cases acrocephalosyndactylia #1
    molecular level articles #1
    type cloverleaf skull #1
    prenatal postnatal overgrowth #1
    donkey paternal chromosomes #1
    macrocephaly peho #1
    inheritance pattern risk #1
    clinicopathological macroglossia #1
    chondrodysplasia category #1
    overgrowth syndromes overview #1
    wnt proteins pten #1
    dicentric element #1
    “crouzonodermoskeletal syndrome #1
    chromosomal segment structure #1
    oris publication burns #1
    thymicdependent aplasia #1
    classification systems relationship #1
    uss cyclops #1
    anteverted nares lower #1
    consistent manifestation birth #1
    absence cloverleaf skull #1
    presumptive monosomy #1
    facial principles #1
    bearestevenson #1
    biological syndrome terminology #1
    shiota anencephalic collection #1
    craniosynostosis sutural biology #1

    Key People For Apert Syndrome

    Top KOLs in the world
    M Michael Cohen
    apert syndrome ataxia telangiectasia publication abnormalities
    Sven Kreiborg
    apert syndrome cleft lip craniofacial morphology
    Andrew O M Wilkie
    fibroblast growth factor apert syndrome intracranial hypertension
    Richard David Hayward
    intracranial pressure apert syndrome fibroblast growth factor
    David John David
    apert syndrome cleft lip intracranial volume
    Michael Oldridge
    fibroblast growth factor apert syndrome brachydactyly type

    M Michael Cohen:Expert Impact

    Concepts for whichM Michael Cohenhas direct influence:Apert syndrome,  Proteus syndrome,  Birth prevalence,  Syndrome delineation,  Ataxia telangiectasia,  Publication abnormalities,  Crouzon syndrome,  Prenatal diagnosis.

    M Michael Cohen:KOL impact

    Concepts related to the work of other authors for whichfor which M Michael Cohen has influence:Apert syndrome,  Fibroblast growth factor,  Prenatal diagnosis,  Human pair,  Situ hybridization,  Publication abnormalities,  Chromosome aberrations.



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    Department of Pediatrics, Faculty of Medicine, Dalhousie University, 5981 University Avenue, Halifax, Canada NS B3H 1W2. | Department of Pediatrics, Faculty of Medicine, Dalhousie University, Nova Scotia, Canada | Department of Pediatrics of Faculty