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Items: 1 to 20 of 44

1.

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH Jr, Stankiewicz P, State MW, Beaudet AL.

Hum Mol Genet. 2011 Nov 15;20(22):4360-70. doi: 10.1093/hmg/ddr363.

2.

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.

Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR.

Genet Med. 2011 Jun;13(6):582-92. doi: 10.1097/GIM.0b013e3182106775.

3.

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW.

Neuron. 2011 Jun 9;70(5):863-85. doi: 10.1016/j.neuron.2011.05.002.

4.

A prospective double-blind, randomized clinical trial of levocarnitine to treat autism spectrum disorders.

Geier DA, Kern JK, Davis G, King PG, Adams JB, Young JL, Geier MR.

Med Sci Monit. 2011 Jun;17(6):PI15-23.

5.

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE.

Nat Genet. 2011 Jun;43(6):585-9. doi: 10.1038/ng.835. Erratum in: Nat Genet. 2012 Apr;44(4):471.

6.

Prevalence of autism spectrum disorders in a total population sample.

Kim YS, Leventhal BL, Koh YJ, Fombonne E, Laska E, Lim EC, Cheon KA, Kim SJ, Kim YK, Lee H, Song DH, Grinker RR.

Am J Psychiatry. 2011 Sep;168(9):904-12. doi: 10.1176/appi.ajp.2011.10101532. Erratum in: Am J Psychiatry. 2013 Jun 1;170(6):689.

PMID:
21558103
7.

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis.

Rossignol DA, Frye RE.

Mol Psychiatry. 2012 Mar;17(3):290-314. doi: 10.1038/mp.2010.136. Review.

8.

Nutritional assessment and support of the patient with acute heart failure.

Sarma S, Gheorghiade M.

Curr Opin Crit Care. 2010 Oct;16(5):413-8. doi: 10.1097/MCC.0b013e32833e10d4. Review.

PMID:
20736830
9.

Role of carnitine in disease.

Flanagan JL, Simmons PA, Vehige J, Willcox MD, Garrett Q.

Nutr Metab (Lond). 2010 Apr 16;7:30. doi: 10.1186/1743-7075-7-30.

10.

Enzymology of the carnitine biosynthesis pathway.

Strijbis K, Vaz FM, Distel B.

IUBMB Life. 2010 May;62(5):357-62. doi: 10.1002/iub.323. Review.

11.

Note on the sampling error of the difference between correlated proportions or percentages.

McNEMAR Q.

Psychometrika. 1947 Jun;12(2):153-7. No abstract available.

PMID:
20254758
12.

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE.

Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534.

13.

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.

Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P.

Nat Genet. 2009 Dec;41(12):1269-71. doi: 10.1038/ng.481.

14.

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders.

Sebat J, Levy DL, McCarthy SE.

Trends Genet. 2009 Dec;25(12):528-35. doi: 10.1016/j.tig.2009.10.004. Review.

15.

Hepatic uptake of gamma-butyrobetaine, a precursor of carnitine biosynthesis, in rats.

Fujita M, Nakanishi T, Shibue Y, Kobayashi D, Moseley RH, Shirasaka Y, Tamai I.

Am J Physiol Gastrointest Liver Physiol. 2009 Oct;297(4):G681-6. doi: 10.1152/ajpgi.00238.2009.

16.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB.

J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412.

17.

Role of acetyl-L-carnitine in the treatment of diabetic peripheral neuropathy.

Evans JD, Jacobs TF, Evans EW.

Ann Pharmacother. 2008 Nov;42(11):1686-91. doi: 10.1345/aph.1L201. Review.

PMID:
18940920
18.

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.

Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, Beaudet AL, Cheung SW, Chinault AC.

Genet Med. 2008 Apr;10(4):278-89. doi: 10.1097/GIM.0b013e31816b4420.

19.

Development and validation of a measure of dysmorphology: useful for autism subgroup classification.

Miles JH, Takahashi TN, Hong J, Munden N, Flournoy N, Braddock SR, Martin RA, Bocian ME, Spence MA, Hillman RE, Farmer JE.

Am J Med Genet A. 2008 May 1;146A(9):1101-16. doi: 10.1002/ajmg.a.32244. Erratum in: Am J Med Genet A. 2008 Oct 15;146A(20):2714. Bocian, Maureen E [added].

PMID:
18383511
20.

Structural variation of chromosomes in autism spectrum disorder.

Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW.

Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg.2007.12.009.

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