연구동향 분석

The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation

전종근 김구환 유한욱 2015년

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' The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • 의학
  • gata3gene
  • hdrsyndrome
  • hypoparathyroidism
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
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' The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation' 의 참고문헌

  • The syndrome of hypoparathyroidism, deafness, and renal anomalies
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  • The syndrome of hypoparathyroidism, deafness, and renal anomalies
    Upadhyay J Endocr Pract 19 1035-1042 [2013]
  • Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia
    Al-Shibli A Pediatr Nephrol 26 : 1167 ~ 1170 [2011]
  • Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia
    Al-Shibli A Pediatr Nephrol 26 1167-1170 [2011]
  • Identification of a novel insertion mutation in GATA3 with HDR syndrome
    Mino Y Clin Exp Nephrol 9 : 58 ~ 61 [2005]
  • Identification of a novel insertion mutation in GATA3 with HDR syndrome
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    Bernardini L Clin Genet 76 117-119 [2009]
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    Fukami M Endocr J 58 : 117 ~ 121 [2011]
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  • Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
    Ali A Hum Mol Genet 16 265-275 [2007]
  • Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
    Zahirieh A J Clin Endocrinol Metab 90 : 2445 ~ 2450 [2005]
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  • A new case of HDR syndrome with severe female genital tract malformation: comment on “Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations” by Hernández et a
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  • A new case of HDR syndrome with severe female genital tract malformation: comment on “Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations” by Hernández et a
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