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Results 1 to 25 of 596

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Overcoming the winner's curse : Estimating penetrance parameters from case-control dataZÖLLNER, Sebastian; PRITCHARD, Jonathan K.American journal of human genetics. 2007, Vol 80, Num 4, pp 605-615, issn 0002-9297, 11 p.Article

A mechanism for low penetrance in an ALS family with a novel SOD1 deletionZINMAN, L; LIU, H. N; ROGAEVA, E et al.Neurology. 2009, Vol 72, Num 13, pp 1153-1159, issn 0028-3878, 7 p.Article

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin geneD'AMICO, A; TESSA, A; SABINO, A et al.Neurology. 2004, Vol 62, Num 11, pp 2138-2139, issn 0028-3878, 2 p.Article

A family with hereditary hyperferritinaemia cataract syndrome : evidence of incomplete penetrance and clinical heterogeneityGONZALEZ-HUERTA, Luz; RAMIREZ-SANCHEZ, Veronica; RIVERA-VEGA, Maria et al.British journal of haematology. 2008, Vol 143, Num 4, pp 596-598, issn 0007-1048, 3 p.Article

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriersFINCH, N; CARRASQUILLO, M. M; CROOK, J et al.Neurology. 2011, Vol 76, Num 5, pp 467-474, issn 0028-3878, 8 p.Article

Aurora-A/STK15 T+91A is a general low penetrance cancer susceptibility gene : a meta-analysis of multiple cancer typesEWART-TOLAND, Amanda; QI DAI; DONGXIN LIN et al.Carcinogenesis (New York. Print). 2005, Vol 26, Num 8, pp 1368-1373, issn 0143-3334, 6 p.Article

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in Spinocerebellar ataxia type 17ODA, Masaya; MARUYAMA, Hirofumi; MATSUMOTO, Masayasu et al.Archives of neurology (Chicago). 2004, Vol 61, Num 2, pp 209-212, issn 0003-9942, 4 p.Article

Penetrance of biallelic SMARCAL 1 mutations is associated with environmental and genetic disturbances of gene expressionBARADARAN-HERAVI, Alireza; KYOUNG SANG CHO; MYUNG, Clara et al.Human molecular genetics (Print). 2012, Vol 21, Num 11, pp 2572-2587, issn 0964-6906, 16 p.Article

Adequacy of single-locus approximations for linkage analyses of oligogenic traitsVIELAND, V. J; HODGE, S. E; GREENBERG, D. A et al.Genetic epidemiology. 1992, Vol 9, Num 1, pp 45-59, issn 0741-0395Article

The study on genetic determination of rheumatoid arthritisBENEVOLENSKAYA, L. I; FINOGHENOVA, S. A; ALEXEYEVA, L. I et al.Genetika. 1991, Vol 27, Num 1, pp 138-146, issn 0016-6758, 9 p.Article

Age-dependent penetrance of different germline mutations in the BRCA geneAL-MULLA, F; BLAND, J. M; SERRATT, D et al.Journal of clinical pathology. 2009, Vol 62, Num 4, pp 350-356, issn 0021-9746, 7 p.Article

Change in the penetrance of founder BRCA1/2 mutations? A retrospective cohort studyFOULKES, W. D; BRUNET, J.-S; WONG, N et al.Journal of medical genetics. 2002, Vol 39, Num 6, pp 407-409, issn 0022-2593Article

Does the genotype for schizophrenia often remain unexpressed because of canalization and stochastic events during development?WOOLF, C. M.Psychological medicine (Print). 1997, Vol 27, Num 3, pp 659-668, issn 0033-2917Article

Family data determine all parameters in Mendelian incomplete penetrance modelsWHITTEMORE, A. S; KELLER, J. B; WARD, M. J et al.Annals of human genetics. 1991, Vol 55, pp 175-177, issn 0003-4800, 3 p., p.2Article

Transmission héréditaire et manifestation des gènes dominants à pénétrance variable: aspects évolutifsRUVINSKIJ, A. O.Genetika. 1987, Vol 23, Num 6, pp 1038-1049, issn 0016-6758Article

The search for low-penetrance cancer susceptibility allelesHOULSTON, Richard S; PETO, Julian.Oncogene (Basingstoke). 2004, Vol 23, Num 38, pp 6471-6476, issn 0950-9232, 6 p.Article

Non-penetrance in tuberous sclerosisWEBB, D. W; OSBORNE, J. P.Journal of medical genetics. 1991, Vol 28, Num 6, pp 417-419, issn 0022-2593Article

High- and low-penetrance cutaneous melanoma susceptibility genesFARGNOLI, Maria Concetta; ARGENZIANO, Giuseppe; ZALAUDEK, Iris et al.Expert review of anticancer therapy. 2006, Vol 6, Num 5, pp 657-670, issn 1473-7140, 14 p.Article

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutationFIGUEIREDO, B. C; SANDRINI, R; RODRIGUEZ-GALINDO, C et al.Journal of medical genetics. 2006, Vol 43, Num 1, pp 91-96, issn 0022-2593, 6 p.Article

Genetic analysis of schizophrenia as an example of a putative multifactorial traitPRITCHARD, D. J.Annals of human genetics. 1996, Vol 60, pp 105-123, issn 0003-4800, 2Article

Sample design for linkage analysis, arbitrary penetranceAKSENOVICH, T. I; GINZBURG, E. KH.Soviet genetics. 1993, Vol 29, Num 10, pp 1290-1297, issn 0038-5409Article

Transmission of the Fra(X) haplotype from three nonpenetrant brothers to their affected grandsonsKIRKILIONIS, A. J; CHUDLEY, A. E; GREENBERG, C. R et al.American journal of medical genetics. 1992, Vol 43, Num 3, pp 588-591, issn 0148-7299Article

Penetrance in the presence of genetic susceptibility to environmental factorsKHOURY, M. J; FLANDERS, W. D; BETAY, T. H et al.American journal of medical genetics. 1988, Vol 29, Num 2, pp 397-403, issn 0148-7299Article

Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendantsRICCARDI, V. M; LEWIS, R. A.American journal of human genetics. 1988, Vol 42, Num 2, pp 284-289, issn 0002-9297Article

Risk estimation in autosomal dominant disorders with reduced penetranceEMERY, A. E. H.Journal of medical genetics. 1986, Vol 23, Num 4, pp 316-318, issn 0022-2593Article

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