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Volumn 33, Issue 3, 2010, Pages 455-459

PENCALC: A program for penetrance estimation in autosomal dominant diseases

Author keywords

Computer program; Maximum likelihood estimation; Penetrance (rate, Value)

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCULATION; COMPUTER INTERFACE; COMPUTER PROGRAM; CONSANGUINITY; GENETIC RISK; HETEROZYGOSITY; HUMAN; MAXIMUM LIKELIHOOD METHOD; PEDIGREE ANALYSIS; PENETRANCE; PHENOTYPE; PROBABILITY; PROGENY; WEB BROWSER;

EID: 77957323774     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572010005000054     Document Type: Article
Times cited : (4)

References (2)
  • 1
    • 33745585836 scopus 로고    scopus 로고
    • Ectrodactyly with aplasia of long bones (OMIM 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis
    • Naveed M, Al-Ali MT, Murthy SK, Al-Hajali S, Al-Khaja N, Deutsch S, Bottani A, Antonarakis SE, Nath SK and Radhakrishna U (2006) Ectrodactyly with aplasia of long bones (OMIM 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis. Am J Med Genet 140A:1440-1446.
    • (2006) Am J Med Genet , vol.140 A , pp. 1440-1446
    • Naveed, M.1    Al-Ali, M.T.2    Murthy, S.K.3    Al-Hajali, S.4    Al-Khaja, N.5    Deutsch, S.6    Bottani, A.7    Antonarakis, S.E.8    Nath, S.K.9    Radhakrishna, U.10
  • 2
    • 0022540264 scopus 로고
    • A Bayesian method for the estimation of penetrance: Application to mandibulofacial and frontonasal dysostoses
    • Rogatko A, Pereira CAB and Frota-Pessoa O (1986) A Bayesian method for the estimation of penetrance: application to mandibulofacial and frontonasal dysostoses. Am J Med Genet 24:231-246.
    • (1986) Am J Med Genet , vol.24 , pp. 231-246
    • Rogatko, A.1    Pereira, C.A.B.2    Frota-Pessoa, O.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.