연구동향 분석

Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders

Maki Fukami Mami Miyado 2017년

논문상세정보
    • 저자 Maki Fukami Mami Miyado
    • 제어번호 103572179
    • 학술지명 Annals of Pediatirc Endocrinology & Metabolism
    • 권호사항 Vol. 22 No. 2 [ 2017 ]
    • 발행처 대한소아내분비학회
    • 발행처 URL http://www.kspendo.or.kr
    • 자료유형 학술저널
    • 수록면 90-94
    • 언어 English
    • 출판년도 2017
    • 등재정보 KCI등재
    • 판매처
    유사주제 논문( 0)
인용/피인용

' Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders' 의 참고문헌

  • WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
    Kim HG Am J Hum Genet 87 465-479 [2010]
  • Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer
    Fukami M Am J Hum Genet 78 167-170 [2006]
  • The role of skin and gut microbiota in the development of atopic eczema
    Marrs T Br J Dermatol 175 Suppl 2 13-18 [2016]
  • The p.R92W variant of NR5A1/ Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice
    Miyado M Biol Sex Differ 7 56- [2016]
  • Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9
    Katoh-Fukui Y Mol Genet Genomic Med 3 550-557 [2015]
  • Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri- Weill dyschondrosteosis
    Shima H J Hum Genet 61 585-591 [2016]
  • Structural variation in the human genome
    Feuk L Nat Rev Genet 7 85-97 [2006]
  • Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    Richards S Genet Med 17 405-424 [2015]
  • Sequencing technologies-the next generation
    Metzker ML Nat Rev Genet 11 31-46 [2010]
  • SHOX haploinsufficiency as a cause of syndromic and nonsyndromic short stature
    Fukami M Mol Syndromol 7 3-11 [2016]
  • Responses of earthworms and microbial communities in their guts to Triclosan
    Ma L Chemosphere 168 1194-1202 [2017]
  • Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature
    Fukami M J Hum Genet 60 553-556 [2015]
  • Rapid whole-genome mutational profiling using next-generation sequencing technologies
    Smith DR Genome Res 18 1638-1642 [2008]
  • Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty
    Maki Fukami Journal of Cellular and Molecular Medicine 21 10 2623-2626 [2017]
  • Non-invasive prenatal testing for aneuploidy: current status and future prospects
    Benn P Ultrasound Obstet Gynecol 42 15-33 [2013]
  • Next-generation DNA sequencing
    Shendure J Nat Biotechnol 26 1135-1145 [2008]
  • Next generation sequencing for molecular diagnosis of neuromuscular diseases
    Vasli N Acta Neuropathol 124 273-283 [2012]
  • NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
    Baetens D Genet Med 19 367-376 [2017]
  • Molecular genetic testing and the future of clinical genomics
    Katsanis SH Nat Rev Genet 14 415-426 [2013]
  • Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copynumber analysis of 62 patients
    Kon M Hum Reprod 30 499-506 [2015]
  • Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism
    Alatzoglou KS J Clin Endocrinol Metab 96 E685-E690 [2011]
  • Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer
    Benito-Sanz S J Med Genet 49 442-450 [2012]
  • Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues
    Igarashi M Hum Mutat 38 39-42 [2017]
  • Human sex development: targeted technologies to improve diagnosis
    Buonocore F Genome Biol 17 257- [2016]
  • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
    Pinkel D Nat Genet 20 207-211 [1998]
  • Guidelines for diagnostic next-generation sequencing
    Matthijs G Eur J Hum Genet 24 2-5 [2016]
  • Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression
    Fukami M J Clin Endocrinol Metab 98 E2013-E2021 [2013]
  • Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism
    Izumi Y Fertil Steril 102 1130-1136.e3 [2014]
  • Genetic testing
    Burke W N Engl J Med 347 1867-1875 [2002]
  • Exome sequencing as a tool for Mendelian disease gene discovery
    Bamshad MJ Nat Rev Genet 12 745-755 [2011]
  • Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
    Eggers S Genome Biol 17 243- [2016]
  • Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development
    Igarashi M PLoS One 8 e68194- [2013]
  • Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
    Lee C Nat Genet 39 7 Suppl S48-S54 [2007]
  • Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
    Beckmann JS Nat Rev Genet 8 639-646 [2007]
  • Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    Miller DT Am J Hum Genet 86 749-764 [2010]
  • Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS)
    Benito-Sanz S J Clin Endocrinol Metab 96 E404-E412 [2011]
  • Chromosomal microarray versus karyotyping for prenatal diagnosis
    Wapner RJ N Engl J Med 367 2175-2184 [2012]
  • Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene
    Settas N J Clin Endocrinol Metab 99 E647-E651 [2014]
  • Central precocious puberty caused by mutations in the imprinted gene MKRN3
    Abreu AP N Engl J Med 368 2467-2475 [2013]
  • Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
    Vissers LE Am J Hum Genet 73 1261-1270 [2003]
  • Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants
    Fukami M J Clin Endocrinol Metab 96 E1035-E1043 [2011]
  • Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia
    Fukami M Pediatr Endocrinol Rev 11 298-305 [2014]
  • Aromatase excess syndrome in a family with upstream deletion of CYP19A1
    Shihara D Clin Endocrinol (Oxf) 81 314-316 [2014]
  • An update on the genetic causes of central precocious puberty
    Shin YL Ann Pediatr Endocrinol Metab 21 66-69 [2016]
  • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
    Green RC Genet Med 15 565-574 [2013]
  • A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
    Bashamboo A Hum Mol Genet 25 3446-3453 [2016]
  • A novel MKRN3 nonsense mutation causing familial central precocious puberty
    Christoforidis A Endocrine 56 446-449 [2017]