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A-Z Articles Index by First Author's Last Name |
| Saada A et al. Mutant mitochonddrial thymidine kinase in mitochondrial DNA depletion myopathy. Nature Genetics 29:342-344, 2001. |
| Sakamoto O et al. Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. J Hum Genet. 2006 Oct 31. |
| Sampaolesi M et al. Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs. Nature, 2006 Nov 30; 444(7119):574-9. Epub 2006 Nov 15. |
| Satomi et al. Cerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia. Stroke 2003;34:783-89. |
| Savagner F et al. Mitochondrial activity in XTC.UC1 cells derived from thyroid oncocytoma. Thyroid. 2001 Apr;11(4):327-33. |
| Scaffidi P,and Misteli T. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med. 2005 Apr;11(4):440-5. Epub 2005 Mar 6. |
| Scapoli L et al., Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet. 2005 Jan;76(1):180-3. Epub 2004 Nov 19. |
| Schenk D. Amyloid-beta immunotherapy for Alzheimer's disease: the end of the beginning. Nat Rev Neurosci. 2002 Oct;3(10):824-8. |
| Schlenk RF et al. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med. 2008 May 1;358(18):1909-18. |
| Schlöndorff J, et al. TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription. Am J Physiol Cell Physiol. 2009 Mar;296(3):C558-69. |
| Schmidt, E.E et al. Illegitimate Cre-dependent chromosome rearrangements in transgenic mouse spermatids. PNAS 97, 13702-13707 (2000). |
| Schoenherr CJ et al. CTCF maintains differential methylation at the Igf2/H19 locus. Nat Genet. 2003;33:66-69. |
| Schoumans J et al. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet. 2005 Sep;42(9):699-705. |
| Schramke V et al. Hairpin RNAs and retrotransposon LTRs effect RNAi and chromatin-based gene silencing.Science. 2003 Aug 22;301(5636):1069-74. |
| Schubbert S et al. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer. 2007 Apr;7(4):295-308. |
| Schuler AM et al. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. Mol Genet Metab. 2005 May;85(1):7-11. Epub 2005 Feb |
| Schwab M et al. Cell cycle. Archipelago of destruction. Nature. 2001; 413:268-269. |
| Schwartz CE, et al. The original Lujan Syndrome Family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet. 2007 Mar 16; [Epub ahead of print] |
| Schwartz M et al. Paternal inheritance of mitochondrial DNA. N Engl J Med. 2002 Aug 22;347(8):576-80 |
| Scott LM et al. JAK2 exon 12 mutations in polycythemia vera and idopathic erythrocytosis. N Engl J Med. 2007 Feb 1;356(5): 459-468. |
| Scott, S.P., et al. (2002) Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc Natl Acad Sci USA 99(2):925-930. |
| Sebat J et al. Strong Association of De Novo Copy Number Mutations with Autism. Science. 2007 Mar 15; [Epub ahead of print] |
| Selkoe D. Alzheimer's disease is a synaptic failure. Science. 2002 Oct 25;298(5594):789-91. |
| Shahin H et al. Mutations in a novel isoform of TRIOBP that encodes a filamentous-acting binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am. J. Hum. Genet. 78:144-152, 2006. Epub 2005 Nov 21. |
| Sharon R et al. The formation of highly soluble oligomers of alpha-synuclein is regulated by fatty acids and enhanced in Parkinson's disease. Neuron. 2003 Feb 20;37(4):583-95. |
| Sharp AJ, et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet. 2006 Sep;38(9):1038-42. |
| Shaw-Smith C, et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet. 2006 Sep;38(9):1032-7. |
| She X et al. The structure and evolution of centromeric transition regions within the human genome. Nature. 2004 Aug 19;430(7002):857-64. |
| Sherman EA, et al. Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10. Am J Hum Genet. 2008 Oct 14. [Epub ahead of print] |
| Shih JC et al. Monoamine oxidase in neuropsychiatry and behavior. Am J Hum Genet 1999 Sep;65(3):593-8. |
| Shore EM et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006 May;38(5):525-527. Epub 2006 Apr 23. |
| Shriver M et al. Getting the science and the ethics right in forensic genetics. Nat Genet. 2005 May;37(5):449-50. |
| Shukla V et al. RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat Genet. 2007 Sep;39(9):1145-50. Epub 2007 Aug 12. |
| Sijen T et al. On the role of RNA amplification in dsRNA-triggered gene silencing. Cell 107:465-476, 2001. |
| Silver, DP et al. Self-exicising retroviral vectors encoding the Cre recombinase overcome Cre-mediated cellular toxicity. Mol. Cell 8, 233-243 (2001). |
| Simha V et al. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J Clin Endocrinol Metab. 2003 Jun;88(6):2821-4. |
| Singleton AB et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science. 2003 Oct 31;302(5646):841. |
| Sipione S et al. Early transcriptional profiles in huntingtin-inducible striatal cells by microarray analyses. Hum Mol Genet. 2002;11:1953-65. |
| Sjoblom T et al. The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314 (5797): 268-74. |
| Skipper L et al. Linkage disequilibrium and association of MAPT H1 in Parkinson disease. Am J Hum Genet. 2004 |
| Skotko BG et al. Prenatal diagnosis of Down syndrome: how best to deliver the news. Am J Med Genet A. 2009 Nov;149A(11):2361-2367. |
| Skotko BG et al. Postnatal diagnosis of Down syndrome: synthesis of the evidence of how best to deliver the news. Pediatrics. 2009 Oct;124(4):e751-758. |
| Smeitink, JA et al. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet. 2006 Nov; 79(5):869-77. Epub 2006 Sep 15. |
Smith RJ. Clinical application of genetic testing for deafness. Am J Med Genet A. 2004 Sep 15;130(1):8-12. Review. ]. |
| Smith UM et al. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet. 2006 Jan 15; [Epub ahead of print] |
| Smyth DJ et al. Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases. BMC Med Genet. 2006 Mar 6;7:20. |
| Snyder EM et al. Regulation of NMDA receptor trafficking by amyloid-beta. Nat Neurosci. 2005 Aug;8(8):1051-8. Epub 2005 Jul 17. |
| Solomon B Antibody-mediated immunotherapy for Alzheimer's disease. Curr Opin Investig Drugs. 2007 Jul;8(7):519-24. |
| Sordella R et al. Gefitinib-sensitizing EGFR mutations in lung cancer activate anti-apoptotic pathways. Science. 2004 Aug 20;305(5687):1163-7. Epub 2004 Jul 29. |
| Sotos, JG The Physical Lincoln: Finding the Genetic Cause of Abraham Lincoln’s Height, Homeliness, Pseudo-Depression, and Imminent Cancer Death. 2008. Publ. Mt.Vernon Book Systems |
| Spadoni AD, et al. Neuroimaging and fetal alcohol spectrum disorders. Neurosci Biobehav Rev. 2007; 31(2):239-45. Epub 2006 Nov 9 |
| Spielman RS et al. Common genetic variants account for differences in gene expression among ethnic groups. Nat Genet. 2007 Feb;39(2):226-31. Epub 2007 Jan 7. |
| Spilianakis CG et al. Interchromosomal associations between alternatively expressed loci. Nature. 2005 Jun |
| Spinazzi M et al. A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. Hum Mol Genet. 2008 Aug 4. [Epub ahead of print] |
| Srinivasan S et al. A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. Hum Mol Genet 2003;12(5):473-82. |
| Stadtfeld M, et al. Defining molecular cornerstones during fibroblast to iPS cell reprogramming in mouse. Cell Stem Cell. 2008; 2(3):230-240. |
| Starkov AA & Beal FM. Portal to Alzheimer's disease. Nat Med. 2008 Oct;14(10):1020-1. |
| Steet R et al. Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase. Biochem Pharmacol. 2007 May 1;73(9):1376-83. |
| Stefansson H et al. A common inversion under selection in Europeans. Nat Genet. 2005 Feb;37(2):129-37. Epub 2005 Jan 16. |
| Stefansson H et al. Large recurrent microdeletions associated with schizophrenia. Nature. 2008 Sep 11;455(7210):232-6. |
| Steinfeld R et al. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet. 2009 Sep;85(3):354-63. |
| Steinthorsdottir V et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet. 2007 Jun;39(6):770-5. Epub 2007 Apr 26. |
| Stephens, J.C., et al. (2001) Haplotype variation and linkage disequilibrium in 313 human genes. Science 293:489-493. |
| Stewart G et al. The two faces of BRCA2, a FANCtastic discovery. Mol Cell. 2002 Jul;10(1):2-4. |
| Stranger BE et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science. 2007 Feb 9;315(5813):848-53. |
| Stratton MR et al. The cancer genome. Nature. 2009 Apr 9;458 (7239):719-24. Review. |
| Strauss KA et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med. 2006 Mar 30;354(13):1370-7. |
| Strauss KA, et al. Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. Brain. 2007 Jul;130(Pt 7):1905-20. Epub 2007 May 3. |
| Strohmaier H et al. Human F-box protein hCdc4 targets cyclin E for proteolysis and is mutated in a breast cancer cell line. Nature. 2001; 413:316-322. |
| Sulem P et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet. 2007 Dec;39(12):1443-52. Epub 2007 Oct 21. |
| Sullivan AK et al. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 2005; 20:402-412. |
| Sultan M et al. A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome. Science. 2008 Aug 15;321(5891):956-60. Epub 2008 Jul 3. |
| Sussan TE et al. Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome. Nature. 2008 Jan 3;451(7174):73-5. |
| Sutter NB et al. A single IGF1 allele is a major determinant of small size in dogs. Science. 2007 Apr 6;316(5821):112-115. |
| Suzuki Y. Beta-galactosidase deficiency: an approach to chaperone therapy. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):471-6. |
| Suzuki Y et al. Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis. Ann Neurol. 2007 Nov 9 [Epub ahead of print] |
| Svetlana A et al. Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. 2009. Human Molecular Genetics 18: 1924-1936 |
| Swarbrick MM et al. Lack of Support for the Association between GAD2 Polymorphisms and Severe Human Obesity. PLoS Biol. 2005 Sep;3(9):e315. Epub 2005 Aug 30. |
| Sweet-Cordero A et al. An oncogenic KRAS2 expression signature identified by cross-species gene-expression analysis. Nat Genet. 2005 Jan;37(1):48-55. Epub 2004 Dec 19. |
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