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Phillips K-A, Jenkins MA, Lindeman GJ, McLachlan SA, McKinley JM, Weideman PC, Hopper JL, Friedlander ML, kConFab Investigators. Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study.Clin Genet 2006: 70: 198–206. ©...
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressivaShore et al. (2006)Nature Genetics 38: 525–527
Lin J, Dinney CP, Grossman HB, Jhamb M, Zhu Y, Spitz MR, Wu X. E-cadherin promoter polymorphism (C-160A) and risk of recurrence in patients with superficial bladder cancer.Clin Genet 2006: 70: 240–245. © Blackwell Munksgaard, 2006Tumor recurrence is a hallmark of superficial bladder cancer....
Bernal JE, Briceno I. Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia–Ecuador.Clin Genet 2006: 70: 188–191. © Blackwell Munksgaard, 2006The people of Tumaco-La Tolita culture inhabited the borders of present-day Colombia and Ecuador. Already extinct by the...
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenitaYoon et al. (2006)Science 312: 902–906
Young AL, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi JT. CYLD mutations underlie Brooke–Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.Clin Genet 2006: 70: 246–249. © Blackwell Munksgaard, 2006Brooke–Spiegler syndrome (BSS), familial...
Stefanou E-G, Crocker M, Boon A, Stewart H. Cryptic mosaicism for monosomy 20 identified in the renal tract.Clin Genet 2006. © Blackwell Munksgaard, 2006We report a post-natal case of mosaic aneuploidy for chromosome 20 in a 4 months old male baby with an abnormal phenotype including dysmorphic...
Reboul M-P, Tandonnet O, Biteau N, Belet-de Putter C, Rebouissoux L, Moradkhani K, Vu PY, Saura R, Arveiler B, Lacombe D, Taine L, Iron A. Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.Clin Genet 2006: 70: 207–213. © Blackwell Munksgaard, 2006Uniparental disomy (UPD) for...
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