Martin DM - Search Results

1

SEMA3E mutation in a patient with CHARGE syndrome.

Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW. Lalani SR, et al. Among authors: martin dm. J Med Genet. 2004 Jul;41(7):e94. doi: 10.1136/jmg.2003.017640. J Med Genet. 2004. PMID: 15235037 Free PMC article. No abstract available.

2

Exclusion of PITX2 mutations as a major cause of CHARGE association.

Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA. Martin DM, et al. Am J Med Genet. 2002 Jul 22;111(1):27-30. doi: 10.1002/ajmg.10473. Am J Med Genet. 2002. PMID: 12124729 Free article.

3

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.

Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM. Layman WS, et al. Among authors: martin dm. Hum Mol Genet. 2009 Jun 1;18(11):1909-23. doi: 10.1093/hmg/ddp112. Epub 2009 Mar 11. Hum Mol Genet. 2009. PMID: 19279158 Free PMC article.

4

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.

Riley KN, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, Patel A, Burnside RD, Innis JW, Rudd MK. Riley KN, et al. Among authors: martin dm. Am J Med Genet A. 2015 Nov;167A(11):2664-73. doi: 10.1002/ajmg.a.37269. Epub 2015 Jul 31. Am J Med Genet A. 2015. PMID: 26227573

5

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.

Bélanger C, Bérubé-Simard FA, Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N. Bélanger C, et al. Among authors: martin dm. Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E620-E629. doi: 10.1073/pnas.1715378115. Epub 2018 Jan 8. Proc Natl Acad Sci U S A. 2018. PMID: 29311329 Free PMC article.

6

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

Zentner GE, Layman WS, Martin DM, Scacheri PC. Zentner GE, et al. Among authors: martin dm. Am J Med Genet A. 2010 Mar;152A(3):674-86. doi: 10.1002/ajmg.a.33323. Am J Med Genet A. 2010. PMID: 20186815 Free PMC article. Review.

7

CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).

Martin DM, Sheldon S, Gorski JL. Martin DM, et al. Am J Med Genet. 2001 Mar 1;99(2):115-9. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1126>3.0.co;2-8. Am J Med Genet. 2001. PMID: 11241468 Free article.

8

Characterisation and genetic mapping of a new X linked deafness syndrome.

Martin DM, Probst FJ, Camper SA, Petty EM. Martin DM, et al. J Med Genet. 2000 Nov;37(11):836-41. doi: 10.1136/jmg.37.11.836. J Med Genet. 2000. PMID: 11073537 Free PMC article.

9

Duplication 2p25 in a child with clinical features of CHARGE syndrome.

Sperry ED, Schuette JL, van Ravenswaaij-Arts CM, Green GE, Martin DM. Sperry ED, et al. Among authors: martin dm. Am J Med Genet A. 2016 May;170A(5):1148-54. doi: 10.1002/ajmg.a.37592. Epub 2016 Feb 6. Am J Med Genet A. 2016. PMID: 26850571 Free PMC article.

10

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.

Meisner JK, Martin DM. Meisner JK, et al. Among authors: martin dm. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):81-89. doi: 10.1002/ajmg.c.31761. Epub 2019 Dec 13. Am J Med Genet C Semin Med Genet. 2020. PMID: 31833191 Free PMC article. Review.

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