A-Z Articles Index by First Author's Last Name A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Rabilloud T et al. Comparative proteomics as a new tool for exploring human mitochondrial tRNA disorders. Biochemistry. 2002;41:144-150.

Rahman N et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007 Feb;39(2):165-7. Epub 2006 Dec 31.

Rainbow LA et al. Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. Clin Endocrinol (Oxf). 2005 Feb;62(2):163-8.

Rakover I et al. Immunotherapy against APP beta-secretase cleavage site improves cognitive function and reduces neuroinflammation in Tg2576 mice without a significant effect on brain abeta levels. Neurodegener Dis. 2007;4(5):392-402. Epub 2007 May 25.

Ramaswamy S et al. A molecular signature of metastasis in primary solid tumors. Nat Genet 2003 Jan;33(1):49-54.

Rassoulzadegan M et al. RNA-mediated non-mendelian inheritance of an epigenetic change in the mouse. Nature. 2006 May 25;441(7092):469-74.

Rauch A et al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008 Feb 8;319(5864):816-9. Epub 2008 Jan 3.

Reczek D. et al. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.Cell. 2007 Nov 16;131(4):770-83.

Reefhuis J, et al. Assisted reproductive technology and major structural birth defects in the United States. Human Reproduction 2009 24:360-366.

Reich, D.E., et al. (2001) Linkage disequilibrium in the human genome. Nature 411:199-204.

Reiman EM et al. GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron. 2007 Jun 7;54(5):713-20.

Reversade B et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2009 Sep;41(9):1016-21. Epub 2009 Aug 2.

Riazuddin S et al. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. Am. J. Hum. Genet. 78(1):137-143, 2006. Epub 2005 Nov 21.

Richard G et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002 May;70(5):1341-8.

Rickman L et al. Prenatal detection of unbalanced chromosomal rearrangements by array-CGH. J Med Genet. 2005 Sep 30; [Epub ahead of print]

Risheg H, et al. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007 Mar 4; [Epub ahead of print]

Rizzuto R. The collagen-mitochondria connection. Nat Genet. 2003 Dec;35(4):300-1.

Robert MF et al. DNMT1 is required to maintain CpG methylation and aberrant gene silencing in human cancer cells. Nat Genet, 2003;33(1):61-65.

Robertson SP et al. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A. 2006 Aug 15;140(16):1726-36.

Roessler E et al. Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab. 2009 Sep-Oct;98(1-2):225-34. Epub 2009 May 27.

Ross MT et al. The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37.

Rose PS et al. Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet A. 2005 Oct 15;138(3):199-207.

Rosenwald A et al. The proliferation gene expression signature is a quantitative integrator of oncogenic events that predicts survival in mantle cell lymphoma. Cancer Cell 2003 Feb;3(2):185-97.

Roux AF et al. Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet. 2004 Mar 06;5(1):5.

Rubio et al. Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis.  Am J Hum Genet. 2002;70:1125-1137.

Rudin C et al. (2009). Treatment of Medulloblastoma with Hedgehog Pathway Inhibitor GDC-0449 New England Journal of Medicine, 361 (12), 1173-1178.

Ruggero D et al. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Science. 2003;299:259-62.

Ruiz-Perez VL et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet 2003 Mar;72(3):728-32.