Martin DM - Search Results

1

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.

2

The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.

Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM, Wu D, Kachar B, Friedman TB, Raphael Y, Camper SA. Anderson DW, et al. Among authors: martin dm. Hum Mol Genet. 2000 Jul 22;9(12):1729-38. doi: 10.1093/hmg/9.12.1729. Hum Mol Genet. 2000. PMID: 10915760

3

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.

4

Systemic lupus erythematosus in a man with Noonan syndrome.

Martin DM, Gencyuz CF, Petty EM. Martin DM, et al. Am J Med Genet. 2001 Jul 22;102(1):59-62. doi: 10.1002/1096-8628(20010722)102:1<59::aid-ajmg1351>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11471173 Free article.

5

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.

Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM. Brown DJ, et al. Among authors: martin dm. Am J Hum Genet. 2002 Sep;71(3):618-24. doi: 10.1086/342067. Epub 2002 Jun 27. Am J Hum Genet. 2002. PMID: 12089654 Free PMC article.

6

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.

7

Pitx2 distinguishes subtypes of terminally differentiated neurons in the developing mouse neuroepithelium.

Martin DM, Skidmore JM, Fox SE, Gage PJ, Camper SA. Martin DM, et al. Dev Biol. 2002 Dec 1;252(1):84-99. doi: 10.1006/dbio.2002.0835. Dev Biol. 2002. PMID: 12453462 Free article.

8

Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion.

Martin DM, Mindell MH, Kwierant CA, Glover TW, Gorski JL. Martin DM, et al. Am J Med Genet A. 2003 Jan 30;116A(3):268-71. doi: 10.1002/ajmg.a.10064. Am J Med Genet A. 2003. PMID: 12503105

9

Characterization of a stapes ankylosis family with a NOG mutation.

Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Gebarski SS, Lesperance MM. Brown DJ, et al. Among authors: martin dm. Otol Neurotol. 2003 Mar;24(2):210-5. doi: 10.1097/00129492-200303000-00014. Otol Neurotol. 2003. PMID: 12621334

10

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.

Karolyi IJ, Probst FJ, Beyer L, Odeh H, Dootz G, Cha KB, Martin DM, Avraham KB, Kohrman D, Dolan DF, Raphael Y, Camper SA. Karolyi IJ, et al. Among authors: martin dm. Hum Mol Genet. 2003 Nov 1;12(21):2797-805. doi: 10.1093/hmg/ddg308. Epub 2003 Sep 9. Hum Mol Genet. 2003. PMID: 12966030

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