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Items: 31

1.

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Mansilla MA, Sompallae RR, Nishimura CJ, Kwitek AE, Kimble MJ, Freese ME, Campbell CA, Smith RJ, Thomas CP.

Nephrol Dial Transplant. 2019 Nov 18. pii: gfz173. doi: 10.1093/ndt/gfz173. [Epub ahead of print]

PMID:
31738409
2.

Current Animal Models for Understanding the Pathology Caused by the Respiratory Syncytial Virus.

Altamirano-Lagos MJ, Díaz FE, Mansilla MA, Rivera-Pérez D, Soto D, McGill JL, Vasquez AE, Kalergis AM.

Front Microbiol. 2019 May 3;10:873. doi: 10.3389/fmicb.2019.00873. eCollection 2019. Review.

3.

Mal paraje and mala hora: remarks on the naturalistic violence towards Andean medical knowledge.

Rivera CP, Henríquez WM, Mansilla MÁ.

Salud Colect. 2018 Apr-Jun;14(2):211-224. doi: 10.18294/sc.2018.1490. Spanish, English.

4.

Role of Regulatory T Cells in Infection and Vaccination During Early Infancy.

Funes SC, Mansilla MA, Canedo-Marroquín G, Lay MK, Riedel CA, Kalergis AM.

Curr Pharm Des. 2018;24(30):3495-3505. doi: 10.2174/1381612824666180829094315. Review.

PMID:
30156146
5.

[Illegitimate patients: Undocumented immigrants' access to health care in Chile].

Concha NL, Mansilla MÁ.

Salud Colect. 2017 Jul-Sep;13(3):507-520. doi: 10.18294/sc.2017.1110. Spanish.

6.

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.

Lansdon LA, Darbro BW, Petrin AL, Hulstrand AM, Standley JM, Brouillette RB, Long A, Mansilla MA, Cornell RA, Murray JC, Houston DW, Manak JR.

Genetics. 2018 Jan;208(1):283-296. doi: 10.1534/genetics.117.300535. Epub 2017 Nov 21.

7.

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.

Thomas CP, Mansilla MA, Sompallae R, Mason SO, Nishimura CJ, Kimble MJ, Campbell CA, Kwitek AE, Darbro BW, Stewart ZA, Smith RJ.

Am J Transplant. 2017 Feb;17(2):401-410. doi: 10.1111/ajt.13970. Epub 2016 Aug 24.

8.

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.

Joshi C, Kolbe DL, Mansilla MA, Mason SO, Smith RJ, Campbell CA.

Biomed Res Int. 2016;2016:6421039. doi: 10.1155/2016/6421039. Epub 2016 May 8.

9.

Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.

Joshi C, Kolbe DL, Mansilla MA, Mason S, Smith RJ, Campbell CA.

Brain Dev. 2016 Oct;38(9):848-51. doi: 10.1016/j.braindev.2016.04.004. Epub 2016 Apr 25.

PMID:
27126216
10.

Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.

VanderMeer JE, Carter TC, Pangilinan F, Mitchell A, Kurnat-Thoma E, Kirke PN, Troendle JF, Molloy AM, Munger RG, Feldkamp ML, Mansilla MA, Mills JL, Murray JC, Brody LC.

Am J Med Genet A. 2016 Apr;170A(4):1007-16. doi: 10.1002/ajmg.a.37539. Epub 2016 Jan 20.

11.

High temperature is essential for preserved human sperm function during the devitrification process.

Mansilla MA, Merino O, Risopatrón J, Isachenko V, Isachenko E, Sánchez R.

Andrologia. 2016 Feb;48(1):111-3. doi: 10.1111/and.12406. Epub 2015 Feb 3.

PMID:
25644084
12.

A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.

Ross AP, Mansilla MA, Choe Y, Helminski S, Sturm R, Maute RL, May SR, Hozyasz KK, Wójcicki P, Mostowska A, Davidson B, Adamopoulos IE, Pleasure SJ, Murray JC, Zarbalis KS.

PLoS One. 2013 Jul 25;8(7):e69333. doi: 10.1371/journal.pone.0069333. Print 2013.

13.

Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.

Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E, Ludwig KU, Noethen MM, Rubini M, Elcioglu N, Ruczinski I.

Hum Genet. 2013 Jul;132(7):771-81. doi: 10.1007/s00439-013-1283-6. Epub 2013 Mar 20.

14.

Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.

Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, Dunnwald M, Lidral AC, Marazita ML, Beaty TH, Murray JC.

Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):934-42. doi: 10.1002/bdra.23076. Epub 2012 Sep 24.

15.

Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.

Butali A, Mossey PA, Adeyemo WL, Jezewski PA, Onwuamah CK, Ogunlewe MO, Ugboko VI, Adejuyigbe O, Adigun AI, Abdur-Rahman LO, Onah II, Audu RA, Idigbe EO, Mansilla MA, Dragan EA, Petrin AL, Bullard SA, Uduezue AO, Akpata O, Osaguona AO, Olasoji HO, Ligali TO, Kejeh BM, Iseh KR, Olaitan PB, Adebola AR, Efunkoya E, Adesina OA, Oluwatosin OM, Murray JC; NigeriaCRAN Collaboration.

Cleft Palate Craniofac J. 2011 Nov;48(6):646-53. doi: 10.1597/10-133. Epub 2011 Jul 8.

16.

Temperature dependence on free volume in cured natural rubber and styrene-butadiene rubber blends.

Salgueiro W, Somoza A, Silva L, Consolati G, Quasso F, Mansilla MA, Marzocca AJ.

Phys Rev E Stat Nonlin Soft Matter Phys. 2011 May;83(5 Pt 1):051805. Epub 2011 May 27.

PMID:
21728565
17.

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.

Rorick NK, Kinoshita A, Weirather JL, Peyrard-Janvid M, de Lima RL, Dunnwald M, Shanske AL, Moretti-Ferreira D, Koillinen H, Kere J, Mansilla MA, Murray JC, Goudy SL, Schutte BC.

Am J Med Genet A. 2011 Jun;155A(6):1314-21. doi: 10.1002/ajmg.a.33980. Epub 2011 May 13.

18.

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.

O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ.

Am J Hum Genet. 2011 May 13;88(5):616-20. doi: 10.1016/j.ajhg.2011.04.005. Epub 2011 May 5.

19.

FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.

Ghassibe-Sabbagh M, Desmyter L, Langenberg T, Claes F, Boute O, Bayet B, Pellerin P, Hermans K, Backx L, Mansilla MA, Imoehl S, Nowak S, Ludwig KU, Baluardo C, Ferrian M, Mossey PA, Noethen M, Dewerchin M, François G, Revencu N, Vanwijck R, Hecht J, Mangold E, Murray J, Rubini M, Vermeesch JR, Poirel HA, Carmeliet P, Vikkula M.

Am J Hum Genet. 2011 Feb 11;88(2):150-61. doi: 10.1016/j.ajhg.2011.01.003. Epub 2011 Feb 3.

20.

CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate.

Letra A, Menezes R, Cooper ME, Fonseca RF, Tropp S, Govil M, Granjeiro JM, Imoehl SR, Mansilla MA, Murray JC, Castilla EE, Orioli IM, Czeizel AE, Ma L, Chiquet BT, Hecht JT, Vieira AR, Marazita ML.

Cleft Palate Craniofac J. 2011 Jul;48(4):363-70. doi: 10.1597/09-227. Epub 2010 Jul 1.

21.

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF.

Nat Genet. 2010 Jun;42(6):525-9. doi: 10.1038/ng.580. Epub 2010 May 2. Erratum in: Nat Genet. 2010 Aug;42(8):727. Scott, James M [corrected to Scott, John M].

22.

Autoantibodies to folate receptor alpha during early pregnancy and risk of oral clefts in Denmark.

Bille C, Pedersen DA, Andersen AM, Mansilla MA, Murray JC, Christensen K, Ballard JL, Gorman EB, Cabrera RM, Finnell RH.

Pediatr Res. 2010 Mar;67(3):274-9. doi: 10.1203/PDR.0b013e3181cbd564.

23.

FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.

Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J, Valencia-Ramirez C, Rivera D, López AM, Moreno MA, Hing A, Lammer EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines P, Pugh E, Doheny K, Arcos-Burgos M, Marazita ML, Murray JC, Lidral AC.

Hum Mol Genet. 2009 Dec 15;18(24):4879-96. doi: 10.1093/hmg/ddp444. Epub 2009 Sep 24.

24.

Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.

Marazita ML, Lidral AC, Murray JC, Field LL, Maher BS, Goldstein McHenry T, Cooper ME, Govil M, Daack-Hirsch S, Riley B, Jugessur A, Felix T, Morene L, Mansilla MA, Vieira AR, Doheny K, Pugh E, Valencia-Ramirez C, Arcos-Burgos M.

Hum Hered. 2009;68(3):151-70. doi: 10.1159/000224636. Epub 2009 Jun 11.

25.

Identification of microdeletions in candidate genes for cleft lip and/or palate.

Shi M, Mostowska A, Jugessur A, Johnson MK, Mansilla MA, Christensen K, Lie RT, Wilcox AJ, Murray JC.

Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):42-51. doi: 10.1002/bdra.20571.

26.

The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.

Choi SJ, Marazita ML, Hart PS, Sulima PP, Field LL, McHenry TG, Govil M, Cooper ME, Letra A, Menezes R, Narayanan S, Mansilla MA, Granjeiro JM, Vieira AR, Lidral AC, Murray JC, Hart TC.

Eur J Hum Genet. 2009 Jun;17(6):774-84. doi: 10.1038/ejhg.2008.245. Epub 2008 Dec 17.

27.

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.

Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, Riley BM, L'Heureux J, Pfundt R, Staaf J, van der Vliet WA, Lidral AC, Schoenmakers EF, Borg A, Schutte BC, Lammer EJ, Murray JC, de Jong PJ.

J Med Genet. 2008 Feb;45(2):81-6. Epub 2007 Sep 14.

28.

Impaired FGF signaling contributes to cleft lip and palate.

Riley BM, Mansilla MA, Ma J, Daack-Hirsch S, Maher BS, Raffensperger LM, Russo ET, Vieira AR, Dodé C, Mohammadi M, Marazita ML, Murray JC.

Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4512-7. Epub 2007 Mar 6.

29.

Contributions of PTCH gene variants to isolated cleft lip and palate.

Mansilla MA, Cooper ME, Goldstein T, Castilla EE, Lopez Camelo JS, Marazita ML, Murray JC.

Cleft Palate Craniofac J. 2006 Jan;43(1):21-9.

30.

Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traits.

Mansilla MA, Kimani J, Mitchell LE, Christensen K, Boomsma DI, Daack-Hirsch S, Nepomucena B, Wyszynski DF, Felix TM, Martin NG, Murray JC.

Twin Res Hum Genet. 2005 Feb;8(1):39-46.

PMID:
15836809
31.

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, Maher BS, Daack-Hirsch S, Schultz R, Mansilla MA, Field LL, Liu YE, Prescott N, Malcolm S, Winter R, Ray A, Moreno L, Valencia C, Neiswanger K, Wyszynski DF, Bailey-Wilson JE, Albacha-Hejazi H, Beaty TH, McIntosh I, Hetmanski JB, Tunçbilek G, Edwards M, Harkin L, Scott R, Roddick LG.

Am J Hum Genet. 2004 Aug;75(2):161-73. Epub 2004 Jun 4.

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