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Results: 1 to 20 of 25

References for PMC Articles for PubMed (Select 15561999)

1.

Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1.

Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, Sakiyama Y, Sugihara T.

Am J Med Genet A. 2004 Jul 15;128A(2):173-5.

PMID:
15214011
2.

Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellites.

John S, Shephard N, Liu G, Zeggini E, Cao M, Chen W, Vasavda N, Mills T, Barton A, Hinks A, Eyre S, Jones KW, Ollier W, Silman A, Gibson N, Worthington J, Kennedy GC.

Am J Hum Genet. 2004 Jul;75(1):54-64. Epub 2004 May 20.

3.

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array.

Matsuzaki H, Loi H, Dong S, Tsai YY, Fang J, Law J, Di X, Liu WM, Yang G, Liu G, Huang J, Kennedy GC, Ryder TB, Marcus GA, Walsh PS, Shriver MD, Puck JM, Jones KW, Mei R.

Genome Res. 2004 Mar;14(3):414-25. Erratum in: Genome Res. 2004 Apr;14(4):786.

4.

Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.

Longman C, Whiteford M, Koppel D, Donaldson M, Paterson W, Tolmie J.

Clin Dysmorphol. 2003 Oct;12(4):215-20.

PMID:
14564206
5.

A novel gene for neonatal diabetes maps to chromosome 10p12.1-p13.

Sellick GS, Garrett C, Houlston RS.

Diabetes. 2003 Oct;52(10):2636-8.

6.

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.

Matise TC, Sachidanandam R, Clark AG, Kruglyak L, Wijsman E, Kakol J, Buyske S, Chui B, Cohen P, de Toma C, Ehm M, Glanowski S, He C, Heil J, Markianos K, McMullen I, Pericak-Vance MA, Silbergleit A, Stein L, Wagner M, Wilson AF, Winick JD, Winn-Deen ES, Yamashiro CT, Cann HM, Lai E, Holden AL.

Am J Hum Genet. 2003 Aug;73(2):271-84. Epub 2003 Jul 3.

7.

Progress in high throughput SNP genotyping methods.

Tsuchihashi Z, Dracopoli NC.

Pharmacogenomics J. 2002;2(2):103-10. Review.

PMID:
12049172
8.
9.

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.

Abecasis GR, Cherny SS, Cookson WO, Cardon LR.

Nat Genet. 2002 Jan;30(1):97-101. Epub 2001 Dec 3.

PMID:
11731797
10.

The sequence of the human genome.

Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigó R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu X.

Science. 2001 Feb 16;291(5507):1304-51. Erratum in: Science 2001 Jun 5;292(5523):1838.

PMID:
11181995
11.

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

Lindsey JC, Lusher ME, McDermott CJ, White KD, Reid E, Rubinsztein DC, Bashir R, Hazan J, Shaw PJ, Bushby KM.

J Med Genet. 2000 Oct;37(10):759-65.

12.
13.

Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome.

Hoveyda N, Shield JP, Garrett C, Chong WK, Beardsall K, Bentsi-Enchill E, Mallya H, Thompson MH.

J Med Genet. 1999 Sep;36(9):700-4.

15.
16.

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.

Wang DG, Fan JB, Siao CJ, Berno A, Young P, Sapolsky R, Ghandour G, Perkins N, Winchester E, Spencer J, Kruglyak L, Stein L, Hsie L, Topaloglou T, Hubbell E, Robinson E, Mittmann M, Morris MS, Shen N, Kilburn D, Rioux J, Nusbaum C, Rozen S, Hudson TJ, Lipshutz R, Chee M, Lander ES.

Science. 1998 May 15;280(5366):1077-82.

17.

Variations on a theme: cataloging human DNA sequence variation.

Collins FS, Guyer MS, Charkravarti A.

Science. 1997 Nov 28;278(5343):1580-1. No abstract available.

PMID:
9411782
18.

Craniosynostosis: genes and mechanisms.

Wilkie AO.

Hum Mol Genet. 1997;6(10):1647-56. Review.

19.

The use of a genetic map of biallelic markers in linkage studies.

Kruglyak L.

Nat Genet. 1997 Sep;17(1):21-4.

PMID:
9288093
20.

The future of genetic studies of complex human diseases.

Risch N, Merikangas K.

Science. 1996 Sep 13;273(5281):1516-7. No abstract available.

PMID:
8801636
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