• Disease
  • Aicardi
  • Aicardi Syndrome
  • Richard Alan Lewis

    Prominent publications by Richard Alan Lewis

    KOL Index score: 19148

    PURPOSE: To survey families with clinical evidence of autosomal dominant retinitis pigmentosa (adRP) for mutations in genes known to cause adRP.

    METHODS: Two hundred adRP families, drawn from a cohort of more than 400 potential families, were selected by analysis of pedigrees. Minimum criteria for inclusion in the adRP cohort included either evidence of at least three generations of affected individuals or two generations with evidence of male-to-male transmission. Probands from each ...

    Also Ranks for: Mutations Genes |  200 families |  autosomal dominant |  pathogenic variants |  retinitis pigmentosa
    KOL Index score: 16557

    PURPOSE: We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the retinitis pigmentosa 2 (RP2) gene.

    METHODS: Families with a provisional clinical diagnosis of adRP, and a pedigree consistent with adRP but no male-to-male transmission were selected from a cohort of 258 families, and tested ...

    Also Ranks for: Linked Retinitis |  mutations rpgr |  provisional diagnosis |  adrp families |  autosomal dominant
    KOL Index score: 16202

    PURPOSE: The purpose of this study was to determine the frequency and spectrum of inosine monophosphate dehydrogenase type I (IMPDH1) mutations associated with autosomal dominant retinitis pigmentosa (RP), to determine whether mutations in IMPDH1 cause other forms of inherited retinal degeneration, and to analyze IMPDH1 mutations for alterations in enzyme activity and nucleic acid binding.

    METHODS: The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 ...

    Also Ranks for: Leber Congenital Amaurosis |  mutations impdh1 |  dominant retinitis |  enzymatic activity |  affinity specificity
    KOL Index score: 15259

    BACKGROUND: Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma. Children with RTS typically present with a characteristic skin rash (poikiloderma), small stature, and skeletal dysplasias. Mutations in the RECQL4 gene, which encodes a RecQ DNA helicase, have been reported in a few RTS patients. We examined whether a predisposition to developing osteosarcoma among an international cohort of RTS patients was ...

    Also Ranks for: Recql4 Gene |  rts patients |  thomson syndrome |  deleterious mutations |  incidence osteosarcoma
    KOL Index score: 14332

    It has been well documented that mutations in the same retinal disease gene can result in different clinical phenotypes due to difference in the mutant allele and/or genetic background. To evaluate this, a set of consanguineous patient families with Leber congenital amaurosis (LCA) that do not carry mutations in known LCA disease genes was characterized through homozygosity mapping followed by targeted exon/whole-exome sequencing to identify genetic variations. Among these families, a ...

    Also Ranks for: Leber Congenital Amaurosis |  myo7a mutations |  exome sequencing |  lca alms1 |  saudi arabia
    KOL Index score: 13553

    The autosomal recessive disorder primary congenital glaucoma (PCG) is caused by unknown developmental defect(s) of the trabecular meshwork and anterior chamber angle of the eye. Homozygosity mapping with a DNA pooling strategy in three large consanguineous Saudi PCG families identified the GLC3A locus on chromosome 2p21 in a region tightly linked to PCG in another population. Formal linkage analysis in 25 Saudi PCG families confirmed both significant linkage to polymorphic markers in ...

    Also Ranks for: Saudi Arabia |  cytochrome p4501b1 |  pcg population |  primary congenital |  human pair
    KOL Index score: 12851

    PURPOSE: The purpose of this study was to perform a comprehensive survey of all known Leber congenital amaurosis (LCA) genes and loci in a collection of 37 consanguineous LCA families from Saudi Arabia.

    METHODS: Direct PCR and sequencing were used to screen 13 known LCA genes (GUCY2D, CRX, RPE65, TULP1, AIPL1, CRB1, RPGRIP1, LRAT, RDH12, IMPDH1, CEP290, RD3, LCA5). In addition, families without mutations identified were further screened with STR markers around these 13 known LCA genes ...

    Also Ranks for: Saudi Arabia |  lca genes |  families mutations |  disease phenotype |  retinal degeneration
    KOL Index score: 11828

    Juvenile polyposis syndrome (JPS) is caused by heterozygous mutations in either SMAD4 or BMPR1A. Individuals with JPS due to mutations in SMAD4 are at greater risk to manifest signs of hereditary hemorrhagic telangiectasia (HHT). HHT is caused by either mutations in SMAD4 or other genes that modulate transforming growth factor-beta (TGFβ) signaling. Additional genes in the TGFβ network include FBN1, TGFBR1, and TGFBR2, mutations of which cause either Marfan syndrome (MFS) or Loeys-Dietz ...

    Also Ranks for: Smad4 Mutation |  mitral valve |  juvenile polyposis |  hht jps |  tgfβ network
    KOL Index score: 11781

    Genetic variation in the ABCR (ABCA4) gene has been associated with five distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus (STGD/FFM), cone-rod dystrophy (CRD), and age-related macular degeneration (AMD). Comparative genetic analyses of ABCR variation and diagnostics have been complicated by substantial allelic heterogeneity and by differences in screening methods. To overcome these limitations, we designed a genotyping microarray (gene chip) for ABCR that ...

    Also Ranks for: Genotyping Microarray |  gene chip |  mutational analysis |  retinal disease |  arrayed extension
    KOL Index score: 11768

    Achromatopsia (ACHM) or rod monochromacy is an autosomal recessive and genetically heterogeneous retinal disorder. It is characterized by a lack of color discrimination, poor visual acuity, photodysphoria, pendular infantile nystagmus, and abnormal photopic electroretinographic (ERG) recordings with preservation of rod-mediated function. Mutations in three known genes are causative; including genes for the α and β subunits of the cyclic nucleotide-gated cation channel (CNGA3 and CNGB3, ...

    Also Ranks for: Achromatopsia Cngb3 |  uniparental disomy |  color discrimination |  cyclic nucleotide |  cation channels
    KOL Index score: 11526

    Choroideremia (McK30310), an X-linked hereditary retinal dystrophy, causes night-blindness, progressive peripheral visual field loss, and, ultimately, central blindness in affected males. The location of choroideremia on the X chromosome is unknown. We have used restriction fragment length polymorphisms from the X chromosome to determine the regional localization of choroideremia by linkage analysis in families with this disease. One such polymorphic locus, DXYS1, located on the long arm ...

    Also Ranks for: Choroideremia Dxys1 |  restriction fragment |  prenatal diagnosis |  linkage analysis |  long arm
    KOL Index score: 11442

    Bardet-Biedl syndrome is a genetically and clinically heterogeneous disorder caused by mutations in at least seven loci (BBS1-7), five of which are cloned (BBS1, BBS2, BBS4, BBS6, and BBS7). Genetic and mutational analyses have indicated that, in some families, a combination of three mutant alleles at two loci (triallelic inheritance) is necessary for pathogenesis. To date, four of the five known BBS loci have been implicated in this mode of oligogenic disease transmission. We present a ...

    Also Ranks for: Bbs Loci |  genetic interaction |  families mutations |  biedl syndrome |  triallelic inheritance
    KOL Index score: 11228

    OBJECTIVE: To evaluate rates and causes of visual loss among patients with acquired immunodeficiency syndrome (AIDS) and cytomegalovirus (CMV) retinitis before widespread availability of highly active antiretroviral therapy (HAART).

    METHODS: Data from 681 patients with AIDS and newly diagnosed or relapsed CMV retinitis who enrolled in 3 clinical trials conducted by the Studies of Ocular Complications of AIDS (SOCA) Research Group (between 1990 and 1996) were combined to evaluate the ...

    Also Ranks for: Visual Loss |  antiretroviral therapy |  cytomegalovirus retinitis |  highly active |  patients aids


    Richard Alan Lewis: Influence Statistics

    Sample of concepts for which Richard Alan Lewis is among the top experts in the world.
    Concept World rank
    arabia transcription #1
    haloplex amplicons #1
    988 coverage #1
    15 native families #1
    form xlrp #1
    nancehoran syndrome purpose #1
    variable callosal dysgenesis #1
    background aicardi syndrome #1
    classification clarified #1
    brains optic chiasm #1
    mutations nettleshipfalls #1
    pcg southern cytochrome #1
    screening guidelines children #1
    c35ta #1
    purpose nancehoran syndrome #1
    transudates eye proteins #1
    ophthalmic examinations children #1
    stringent criteria tumors #1
    linked ophthalmic #1
    essential xlinked gene #1
    mildly girls #1
    rs1 signal #1
    peters anomaly pcg #1
    mutation oa1 #1
    carrier oocyte donor #1
    disease genetic chromosome #1
    mutations loci #1
    nystagmus photodysphoria #1
    aicardi syndrome methods #1
    caused frameshift #1
    disease xlrs #1
    congenital chorioretinal lacunae #1
    typical aicardi syndrome #1
    cell adhesion rs1 #1
    onh genes #1
    subjects 50 risk #1
    mutant gene dna #1
    null‐protein product #1
    molecular basis pa #1
    ocel1 aicardi #1
    ecuador pcg #1
    orf15 rp #1
    fully target genes #1
    identification nhs mutations #1
    pa pcg #1
    north nhs families #1
    risk subject disease #1
    respective genes mutations #1
    methods tead1 #1
    abnormal eye examinations #1

    Key People For Aicardi Syndrome

    Top KOLs in the world
    Jean Aicardi
    status epilepticus newborn infant aicardi syndrome
    Roger J Packer
    brain tumors neurofibromatosis type central nervous
    Beverly S Emanuel
    human pair situ hybridization deletion syndrome
    Ignatia B Van den Veyver
    prenatal diagnosis aicardi syndrome fetal cells
    Vernon Reid Sutton
    osteogenesis imperfecta aicardi syndrome propionic acidemia
    Richard Alan Lewis
    aicardi syndrome stargardt disease retinitis pigmentosa

    Richard Alan Lewis:Expert Impact

    Concepts for whichRichard Alan Lewishas direct influence:Aicardi syndrome,  Saudi arabia,  Stargardt disease,  Retinitis pigmentosa,  Oa1 gene,  Biedl syndrome,  Incontinentia pigmenti.

    Richard Alan Lewis:KOL impact

    Concepts related to the work of other authors for whichfor which Richard Alan Lewis has influence:Retinitis pigmentosa,  Stargardt disease,  Retinal degeneration,  Neurofibromatosis type,  Usher syndrome,  Incontinentia pigmenti,  Exome sequencing.



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    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA | Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA | Texas Children's Hospital, Houston, Texas, USA | Cullen Eye Institute, Depart