연구동향 분석

Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing

전가원 이미나 정지미 홍승연 김영남 신종범 기창석 2014년

논문상세정보
인용/피인용
' Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • 의학
  • atelosteogenesistypei
  • exomesequencing
  • flnb
  • mutation
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
7,667 0

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' Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing' 의 참고문헌

  • dbSNP: the NCBI database of genetic variation
    Sherry ST Nucleic Acids Res 29 308-311 [2001]
  • The many faces of filamin: a versatile molecular scaffold for cell motility and signalling
    Feng Y Nat Cell Biol 6 1034-1038 [2004]
  • The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
    McKenna A Genome Res 20 1297-1303 [2010]
  • SLITRK6 mutations cause myopia and deafness in humans and mice
    Tekin M J Clin Invest 123 2094-2102 [2013]
  • Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II
    Brodie SG Am J Med Genet 80 247-251 [1998]
  • Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1
    Bejjani BA Am J Med Genet 79 392-395 [1998]
  • Prenatal sonographic features of fetal atelosteogenesis type 1
    Luewan S J Ultrasound Med 28 1091-1095 [2009]
  • Mutations in two regions of FLNB result in atelosteogenesis I and III
    Farrington-Rock C Hum Mutat 27 705-710 [2006]
  • Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
    Krakow D Nat Genet 36 405-410 [2004]
  • Mutations in FLNB cause boomerang dysplasia
    Bicknell LS J Med Genet 42 43- [2005]
  • Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure
    Dalkilic I Mol Cell Biol 26 6522-6534 [2006]
  • GeneReviews
    Robertson S - [1993]
  • Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
    Verloes A Am J Med Genet 90 407-422 [2000]
  • Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease
    Choi BO HUMAN MUTATION 33 11 1610-1615 [2012]
  • Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia
    Bettencourt C Clin Genet - [2013]
  • Cardiac malformations and midline skeletal defects in mice lacking filamin A
    Hart AW Hum Mol Genet 15 2457-2467 [2006]
  • Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update
    Lemyre E Can Assoc Radiol J 50 185-197 [1999]
  • Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign
    Mäkitie O Am J Med Genet A 122A 187-192 [2003]
  • Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II
    Stern HJ Am J Med Genet 36 183-195 [1990]
  • Atelosteogenesis
    Maroteaux P Am J Med Genet 13 15-25 [1982]
  • ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
    Wang K Nucleic Acids Res 38 164- [2010]
  • A framework for variant discovery and genotyping using next-generation DNA sequencing data
    DePristo MA Nat Genet 43 491-498 [2011]
  • A case of atelosteogenesis
    Temple K J Med Genet 27 194-197 [1990]