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The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.
Eur J Hum Genet. 2020 Jul;28(7):925-937. doi: 10.1038/s41431-020-0581-4. Epub 2020 May 28.
Eur J Hum Genet. 2020.
PMID: 32467599
Free PMC article.
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL.
Doucette L, et al. Among authors: galutira d.
Eur J Hum Genet. 2009 May;17(5):554-64. doi: 10.1038/ejhg.2008.231. Epub 2008 Dec 24.
Eur J Hum Genet. 2009.
PMID: 19107147
Free PMC article.
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Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D, Young TL.
Doucette L, et al. Among authors: galutira d.
Ophthalmic Genet. 2013 Sep;34(3):119-29. doi: 10.3109/13816810.2013.763993. Epub 2013 Jan 30.
Ophthalmic Genet. 2013.
PMID: 23362848
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A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
Abdelfatah N, Mostafa AA, French CR, Doucette LP, Penney C, Lucas MB, Griffin A, Booth V, Rowley C, Besaw JE, Tranebjærg L, Rendtorff ND, Hodgkinson KA, Little LA, Agrawal S, Parnes L, Batten T, Moore S, Hu P, Pater JA, Houston J, Galutira D, Benteau T, MacDonald C, French D, O'Rielly DD, Stanton SG, Young TL.
Abdelfatah N, et al. Among authors: galutira d.
Hum Genet. 2022 Apr;141(3-4):965-979. doi: 10.1007/s00439-021-02381-1. Epub 2021 Oct 11.
Hum Genet. 2022.
PMID: 34633540
Free PMC article.
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The cloned butyrylcholinesterase (BCHE) gene maps to a single chromosome site, 3q26.
Allderdice PW, Gardner HA, Galutira D, Lockridge O, LaDu BN, McAlpine PJ.
Allderdice PW, et al. Among authors: galutira d.
Genomics. 1991 Oct;11(2):452-4. doi: 10.1016/0888-7543(91)90154-7.
Genomics. 1991.
PMID: 1769657
Free article.
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HaeIII RFLP for salivary proline-rich protein gene probe (pPRPII2.2RP).
Galutira D, Allderdice PW, Davidson WS.
Galutira D, et al.
Nucleic Acids Res. 1991 Dec 11;19(23):6667. doi: 10.1093/nar/19.23.6667-a.
Nucleic Acids Res. 1991.
PMID: 1684431
Free PMC article.
No abstract available.
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Progressive multifocal leukoencephalopathy in a patient with Alzheimer's disease.
Kelleher MB, Galutira D, Duggan TD, Nuovo GJ.
Kelleher MB, et al. Among authors: galutira d.
Diagn Mol Pathol. 1994 Jun;3(2):105-13. doi: 10.1097/00019606-199406000-00007.
Diagn Mol Pathol. 1994.
PMID: 8061888
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Identical twins discordant for multiple sclerosis have a shift in their T-cell receptor repertoires.
Haegert DG, Galutira D, Murray TJ, O'Connor P, Gadag V.
Haegert DG, et al. Among authors: galutira d.
Clin Exp Immunol. 2003 Dec;134(3):532-7. doi: 10.1111/j.1365-2249.2003.02327.x.
Clin Exp Immunol. 2003.
PMID: 14632762
Free PMC article.
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