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American Journal of Human Genetics|August 19, 2007
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumChristian T Thiel, Geert Mortier, Ilkka Kaitila, et al.
American Journal of Human Genetics|August 19, 2007
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathwayGinat Narkis, Rivka Ofir, Daniella Landau, et al.
American Journal of Human Genetics|August 19, 2007
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathwayGinat Narkis, Rivka Ofir, Esther Manor, et al.
American Journal of Human Genetics|August 2, 2007
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalancePaola Prandini, Samuel Deutsch, Robert Lyle, et al.
American Journal of Human Genetics|October 1, 1991
Complex patterns of linkage disequilibrium in the Huntington disease regionM E MacDonald, C Lin, L Srinidhi, et al.
American Journal of Human Genetics|October 1, 1991
Loss of heterozygosity for alleles on chromosome II in cervical carcinomaE S Srivatsan, B C Misra, M Venugopalan, et al.
American Journal of Human Genetics|June 15, 2006
Human genomic deletions mediated by recombination between Alu elementsShurjo K Sen, Kyudong Han, Jianxin Wang, et al.
American Journal of Human Genetics|June 15, 2006
Intra- and interindividual epigenetic variation in human germ cellsJames M Flanagan, Violeta Popendikyte, Natalija Pozdniakovaite, et al.
American Journal of Human Genetics|June 15, 2006
ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosisUlla Hodgson, Ville Pulkkinen, Morag Dixon, et al.
American Journal of Human Genetics|June 15, 2006
Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomalyN A Oates, J van Vliet, D L Duffy, et al.
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