메뉴 건너뛰기




Volumn 61, Issue 2, 2016, Pages 173-175

Diagnostic exome sequencing for patients with a family history of consanguinity: Over 38% of positive results are not autosomal recessive pattern

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CONSANGUINITY; DIAGNOSIS; DIAGNOSTIC VALUE; EXOME; FAMILY; FAMILY STUDY; HOMOZYGOSITY; HUMAN; MOLECULAR DIAGNOSIS; MUTATION; RECESSIVE GENE; RETROSPECTIVE STUDY; DNA SEQUENCE; FEMALE; GENETIC DISEASES, INBORN; GENETICS; INHERITANCE; MALE;

EID: 84959269956     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.125     Document Type: Article
Times cited : (7)

References (13)
  • 1
    • 0034866964 scopus 로고    scopus 로고
    • Consanguinity and its relevance to clinical genetics
    • Bittles, A. H. Consanguinity and its relevance to clinical genetics. Clin. Genet. 60, 89-98 (2001)
    • (2001) Clin. Genet. , vol.60 , pp. 89-98
    • Bittles, A.H.1
  • 2
    • 0033582555 scopus 로고    scopus 로고
    • Consanguinity and recurrence risk of birth defects: A population-based study
    • Stoltenberg, C., Magnus, P., Skrondal, A., & Lie, R. T. Consanguinity and recurrence risk of birth defects: a population-based study. Am. J. Med. Genet. 82, 423-428 (1999)
    • (1999) Am. J. Med. Genet. , vol.82 , pp. 423-428
    • Stoltenberg, C.1    Magnus, P.2    Skrondal, A.3    Lie, R.T.4
  • 5
    • 84904700239 scopus 로고    scopus 로고
    • Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar
    • Fahiminiya, S., Almuriekhi, M., Nawaz, Z., Staffa, A., Lepage, P., Ali, R., et al. Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar. Clin. Genet. 86, 134-141 (2013)
    • (2013) Clin. Genet. , vol.86 , pp. 134-141
    • Fahiminiya, S.1    Almuriekhi, M.2    Nawaz, Z.3    Staffa, A.4    Lepage, P.5    Ali, R.6
  • 6
    • 79960837470 scopus 로고    scopus 로고
    • Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-Exome sequencing
    • Al-Romaih, K. I., Genovese, G., Al-Mojalli, H., Al-Othman, S., Al-Manea, H., Al-Suleiman, M., et al. Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-Exome sequencing. Am. J. Kidney Dis. 58, 186-195 (2011)
    • (2011) Am. J. Kidney Dis. , vol.58 , pp. 186-195
    • Al-Romaih, K.I.1    Genovese, G.2    Al-Mojalli, H.3    Al-Othman, S.4    Al-Manea, H.5    Al-Suleiman, M.6
  • 7
    • 84882271745 scopus 로고    scopus 로고
    • Genetic heterogeneity and consanguinity lead to a double hit: Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa
    • Goldenberg-Cohen, N., Banin, E., Zalzstein, Y., Cohen, B., Rotenstreich, Y., Rizel, L., et al. Genetic heterogeneity and consanguinity lead to a double hit: homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa. Mol. Vis. 19, 1565-1571 (2013)
    • (2013) Mol. Vis. , vol.19 , pp. 1565-1571
    • Goldenberg-Cohen, N.1    Banin, E.2    Zalzstein, Y.3    Cohen, B.4    Rotenstreich, Y.5    Rizel, L.6
  • 8
    • 84898650605 scopus 로고    scopus 로고
    • Unexpected exome sequencing result: De novo TRPS1 mutation in an infant with infantile scoliosis mild developmental delay, and history of consanguinity
    • Casci, I., Accousti, W., & Lacassie, Y. Unexpected exome sequencing result: de novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity. Am. J. Med. Genet. A 164A, 1334-1337 (2014)
    • (2014) Am. J. Med. Genet. A. , vol.164 , pp. 1334-1337
    • Casci, I.1    Accousti, W.2    Lacassie, Y.3
  • 9
    • 84908887049 scopus 로고    scopus 로고
    • Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families
    • Makrythanasis, P., Nelis, M., Santoni, F. A., Guipponi, M., Vannier, A., Bena, F., et al. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum. Mutat. 35, 1203-1210 (2014)
    • (2014) Hum. Mutat. , vol.35 , pp. 1203-1210
    • Makrythanasis, P.1    Nelis, M.2    Santoni, F.A.3    Guipponi, M.4    Vannier, A.5    Bena, F.6
  • 11
    • 84920869763 scopus 로고    scopus 로고
    • Accelerating novel candidate gene discovery in neurogenetic disorders via whole-Exome sequencing of prescreened multiplex consanguineous families
    • Alazami, A. M., Patel, N., Shamseldin, H. E., Anazi, S., Al-Dosari, M. S., Alzahrani, F., et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-Exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 10, 148-161 (2015)
    • (2015) Cell Rep. , vol.10 , pp. 148-161
    • Alazami, A.M.1    Patel, N.2    Shamseldin, H.E.3    Anazi, S.4    Al-Dosari, M.S.5    Alzahrani, F.6
  • 12
    • 84881611807 scopus 로고    scopus 로고
    • Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: The Saudi experience
    • Alkuraya, F. S. Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience. Clin. Genet. 84, 203-208 (2013)
    • (2013) Clin. Genet. , vol.84 , pp. 203-208
    • Alkuraya, F.S.1
  • 13
    • 84939635642 scopus 로고    scopus 로고
    • Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: Results from 500 unselected families with undiagnosed genetic conditions
    • Farwell, K. D., Shahmirzadi, L., El-Khechen, D., Powis, Z., Chao, E. C., Davis, B. T., et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet. Med. 17, 578-586 (2014).
    • (2014) Genet. Med. , vol.17 , pp. 578-586
    • Farwell, K.D.1    Shahmirzadi, L.2    El-Khechen, D.3    Powis, Z.4    Chao, E.C.5    Davis, B.T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.