Martin CL - Search Results

1

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH. Cardoso C, et al. Among authors: martin cl. Hum Mutat. 2002 Jan;19(1):4-15. doi: 10.1002/humu.10028. Hum Mutat. 2002. PMID: 11754098 Review.

2

A locus for bilateral perisylvian polymicrogyria maps to Xq28.

Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM Jr, Winter RM, Leventer RJ, Dobyns WB. Villard L, et al. Among authors: martin cl. Am J Hum Genet. 2002 Apr;70(4):1003-8. doi: 10.1086/339433. Epub 2002 Jan 29. Am J Hum Genet. 2002. PMID: 11822025 Free PMC article.

3

The evolutionary origin of human subtelomeric homologies--or where the ends begin.

Martin CL, Wong A, Gross A, Chung J, Fantes JA, Ledbetter DH. Martin CL, et al. Am J Hum Genet. 2002 Apr;70(4):972-84. doi: 10.1086/339768. Epub 2002 Mar 1. Am J Hum Genet. 2002. PMID: 11875757 Free PMC article.

4

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Ramocki MB, et al. Among authors: martin cl. Eur J Hum Genet. 2003 Jul;11(7):527-34. doi: 10.1038/sj.ejhg.5200995. Eur J Hum Genet. 2003. PMID: 12825074

5

Diverse fates of paralogs following segmental duplication of telomeric genes.

Wong A, Vallender EJ, Heretis K, Ilkin Y, Lahn BT, Martin CL, Ledbetter DH. Wong A, et al. Among authors: martin cl. Genomics. 2004 Aug;84(2):239-47. doi: 10.1016/j.ygeno.2004.03.001. Genomics. 2004. PMID: 15233989

6

Mitotic and meiotic instability of a telomere association involving the Y chromosome.

Huang B, Martin CL, Sandlin CJ, Wang S, Ledbetter DH. Huang B, et al. Among authors: martin cl. Am J Med Genet A. 2004 Aug 30;129A(2):120-3. doi: 10.1002/ajmg.a.30146. Am J Med Genet A. 2004. PMID: 15316974

7

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S. Waggoner DJ, et al. Among authors: martin cl. Genet Med. 2005 Oct;7(8):524-33. doi: 10.1097/01.GIM.0000178503.15559.d3. Genet Med. 2005. PMID: 16247291 Free article.

8

Autism and cytogenetic abnormalities: solving autism one chromosome at a time.

Martin CL, Ledbetter DH. Martin CL, et al. Curr Psychiatry Rep. 2007 Apr;9(2):141-7. doi: 10.1007/s11920-007-0084-9. Curr Psychiatry Rep. 2007. PMID: 17389126 Review.

9

The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization.

Martin CL, Nawaz Z, Baldwin EL, Wallace EJ, Justice AN, Ledbetter DH. Martin CL, et al. Genet Med. 2007 Sep;9(9):566-73. doi: 10.1097/gim.0b013e318149e1fc. Genet Med. 2007. PMID: 17873644 Free article. Review.

10

Cryptic telomere imbalance: a 15-year update.

Ledbetter DH, Martin CL. Ledbetter DH, et al. Among authors: martin cl. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):327-34. doi: 10.1002/ajmg.c.30149. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910073 Review.

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