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32199 publications found in the database

*2010 (1822)

*Starting in 2010, coverage has been refocused on core journals.

2010 Publications

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
Shimomura, Y. et al. Nature 464(7291), NPG, 2010  PubMed

Identification of a Homozygous Deletion Mutation in C16orf57 in a Family With Clericuzio-Type Poikiloderma With Neutropenia
Tanaka, A. et al. American Journal of Medical Genetics Part a 152A(6), 1347-8, 2010  PubMed

Inferring Continental Ancestry of Argentineans from Autosomal, Y-Chromosomal and Mitochondrial DNA
Corach, D. et al. Annals of Human Genetics 74(Pt 1), 65-76, 2010  PubMed

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
Xin, B. Z. et al. Proceedings of the National Academy of Sciences of the United States of America 107(1), 258-63, 2010  PubMed

A Single-Nucleotide Deletion in the POMP 5' UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis
Dahlqvist, J. et al. American Journal of Human Genetics 86(4), 596-603, 2010  PubMed

Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis
Lin, M. W. et al. European Journal of Human Genetics (1), 26-32, 2010  PubMed

Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
Shimomura, Y. et al. American Journal of Human Genetics 86(4), 632-8, 2010  PubMed

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy
Fassone, E. et al. Human Molecular Genetics 19(24), 4837-47, 2010  PubMed

Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer
Neklason, D. W. et al. Journal of Medical Genetics 47(10), 692-9, 2010  PubMed

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