Lines MA - Search Results

1

Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.

Berry FB, Lines MA, Oas JM, Footz T, Underhill DA, Gage PJ, Walter MA. Berry FB, et al. Among authors: lines ma. Hum Mol Genet. 2006 Mar 15;15(6):905-19. doi: 10.1093/hmg/ddl008. Epub 2006 Jan 31. Hum Mol Genet. 2006. PMID: 16449236

2

Molecular genetics of Axenfeld-Rieger malformations.

Lines MA, Kozlowski K, Walter MA. Lines MA, et al. Hum Mol Genet. 2002 May 15;11(10):1177-84. doi: 10.1093/hmg/11.10.1177. Hum Mol Genet. 2002. PMID: 12015277 Review.

3

Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.

Lines MA, Kozlowski K, Kulak SC, Allingham RR, Héon E, Ritch R, Levin AV, Shields MB, Damji KF, Newlin A, Walter MA. Lines MA, et al. Invest Ophthalmol Vis Sci. 2004 Mar;45(3):828-33. doi: 10.1167/iovs.03-0309. Invest Ophthalmol Vis Sci. 2004. PMID: 14985297

4

Identification of target genes regulated by FOXC1 using nickel agarose-based chromatin enrichment.

Tamimi Y, Lines M, Coca-Prados M, Walter MA. Tamimi Y, et al. Among authors: lines m. Invest Ophthalmol Vis Sci. 2004 Nov;45(11):3904-13. doi: 10.1167/iovs.04-0628. Invest Ophthalmol Vis Sci. 2004. PMID: 15505035

5

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium; Majewski J, Bulman DE, White SM, Boycott KM. Hood RL, et al. Among authors: lines ma. Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265015 Free PMC article.

6

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ; Care4Rare Canada Consortium; Michaud JL, Majewski J. Tetreault M, et al. Hum Genet. 2015 Sep;134(9):981-91. doi: 10.1007/s00439-015-1577-y. Epub 2015 Jun 23. Hum Genet. 2015. PMID: 26099313

7

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D; FORGE Canada Consortium; Majewski J, Bulman DE, Wieczorek D, Boycott KM. Lines MA, et al. Am J Hum Genet. 2012 Feb 10;90(2):369-77. doi: 10.1016/j.ajhg.2011.12.023. Epub 2012 Feb 2. Am J Hum Genet. 2012. PMID: 22305528 Free PMC article.

8

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.

Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM. Lines MA, et al. Ophthalmology. 2002 Oct;109(10):1862-70. doi: 10.1016/s0161-6420(02)01187-9. Ophthalmology. 2002. PMID: 12359607

9

Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.

Beauchamp MC, Djedid A, Bareke E, Merkuri F, Aber R, Tam AS, Lines MA, Boycott KM, Stirling PC, Fish JL, Majewski J, Jerome-Majewska LA. Beauchamp MC, et al. Among authors: lines ma. Hum Mol Genet. 2021 May 28;30(9):739-757. doi: 10.1093/hmg/ddab051. Hum Mol Genet. 2021. PMID: 33601405 Free PMC article.

10

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

Vanstone JR, Smith AM, McBride S, Naas T, Holcik M, Antoun G, Harper ME, Michaud J, Sell E, Chakraborty P, Tetreault M; Care4Rare Consortium; Majewski J, Baird S, Boycott KM, Dyment DA, MacKenzie A, Lines MA. Vanstone JR, et al. Among authors: lines ma. Eur J Hum Genet. 2016 Jul;24(7):1084-8. doi: 10.1038/ejhg.2015.243. Epub 2015 Nov 25. Eur J Hum Genet. 2016. PMID: 26604000 Free PMC article.

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