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Page 1
Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.
Archer HL, Gupta S, Enoch S, Thompson P, Rowbottom A, Chua I, Warren S, Johnson D, Ledbetter DH, Lese-Martin C, Williams P, Pilz DT. Archer HL, et al. Among authors: lese martin c. Am J Med Genet A. 2005 Jul 1;136(1):38-44. doi: 10.1002/ajmg.a.30774. Am J Med Genet A. 2005. PMID: 15937949 Review.
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH Jr, Devlin B. Chaste P, et al. Among authors: lese martin c. Biol Psychiatry. 2015 May 1;77(9):775-84. doi: 10.1016/j.biopsych.2014.09.017. Epub 2014 Sep 30. Biol Psychiatry. 2015. PMID: 25534755 Free PMC article.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Autism Genome Project Consortium; Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Langemei… See abstract for full author list ➔ Autism Genome Project Consortium, et al. Among authors: lese martin c. Nat Genet. 2007 Mar;39(3):319-28. doi: 10.1038/ng1985. Epub 2007 Feb 18. Nat Genet. 2007. PMID: 17322880 Free PMC article.
Strong association of de novo copy number mutations with autism.
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. Sebat J, et al. Among authors: lese martin c. Science. 2007 Apr 20;316(5823):445-9. doi: 10.1126/science.1138659. Epub 2007 Mar 15. Science. 2007. PMID: 17363630 Free PMC article.
Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium. Bernier R, et al. Genet Med. 2016 Apr;18(4):341-9. doi: 10.1038/gim.2015.78. Epub 2015 Jun 11. Genet Med. 2016. PMID: 26066539 Free PMC article.
15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
Tatton-Brown K, Pilz DT, Orstavik KH, Patton M, Barber JC, Collinson MN, Maloney VK, Huang S, Crolla JA, Marks K, Ormerod E, Thompson P, Nawaz Z, Lese-Martin C, Tomkins S, Waits P, Rahman N, McEntagart M. Tatton-Brown K, et al. Among authors: lese martin c. Am J Med Genet A. 2009 Feb;149A(2):147-54. doi: 10.1002/ajmg.a.32534. Am J Med Genet A. 2009. PMID: 19133692
14 results