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Items: 1 to 20 of 196

1.

Prevalence rates of spina bifida in Alberta, Canada: 2001-2015. Can we achieve more prevention?

Lowry RB, Bedard T, MacFarlane AJ, Crawford S, Sibbald B, Agborsangaya BC.

Birth Defects Res. 2019 Feb 1;111(3):151-158. doi: 10.1002/bdr2.1438. Epub 2018 Dec 18.

PMID:
30561844
2.

Triple surveillance: The future for birth defect registries.

Lowry RB, Bedard T.

Eur J Med Genet. 2018 Oct 17. pii: S1769-7212(18)30668-2. doi: 10.1016/j.ejmg.2018.10.005. [Epub ahead of print] No abstract available.

PMID:
30342097
3.

Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980-2012.

Bedard T, Lowry RB, Sibbald B, Crawford S, Kiefer GN.

Am J Med Genet A. 2018 Jan;176(1):19-28. doi: 10.1002/ajmg.a.38513. Epub 2017 Nov 23.

PMID:
29168277
4.

Views on the Oberg-Manske-Tonkin Classification System for Congenital Anomalies of the Hand and Upper Limb.

Lowry RB, Bedard T, Kiefer GN, Sass KR.

J Hand Surg Am. 2017 May;42(5):378-381. doi: 10.1016/j.jhsa.2017.02.018. Review.

PMID:
28473160
5.

The prevalence of amnion rupture sequence, limb body wall defects and body wall defects in Alberta 1980-2012 with a review of risk factors and familial cases.

Lowry RB, Bedard T, Sibbald B.

Am J Med Genet A. 2017 Feb;173(2):299-308. doi: 10.1002/ajmg.a.38016. Epub 2016 Oct 14.

PMID:
27739257
6.
7.

Congenital limb deficiency classification and nomenclature: The need for a consensus.

Lowry RB, Bedard T.

Am J Med Genet A. 2016 Jun;170(6):1400-4. doi: 10.1002/ajmg.a.37608. Epub 2016 Mar 30.

PMID:
27027980
8.

Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS).

Bedard T, Lowry RB, Sibbald B, Kiefer GN, Metcalfe A.

Am J Med Genet A. 2015 Nov;167A(11):2599-609. doi: 10.1002/ajmg.a.37240. Epub 2015 Jul 14. Review.

PMID:
26171959
9.

Graphene electrode modified with electrochemically reduced graphene oxide for label-free DNA detection.

Li B, Pan G, Avent ND, Lowry RB, Madgett TE, Waines PL.

Biosens Bioelectron. 2015 Oct 15;72:313-9. doi: 10.1016/j.bios.2015.05.034. Epub 2015 May 14.

PMID:
26002015
10.

Stability of orofacial clefting rate in alberta, 1980-2011.

Lowry RB, Sibbald B, Bedard T.

Cleft Palate Craniofac J. 2014 Nov;51(6):e113-21. doi: 10.1597/13-340. Epub 2014 Jun 18.

PMID:
24941352
11.

A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report.

Lazier J, Chernos J, Lowry RB.

Am J Med Genet A. 2014 Sep;164A(9):2385-7. doi: 10.1002/ajmg.a.36636. Epub 2014 Jun 12.

PMID:
24924433
12.

Updating the epidemiology of isolated cleft palate.

Lowry RB, Sibbald B.

Plast Reconstr Surg. 2014 Jan;133(1):67e-8e. doi: 10.1097/01.prs.0000436522.71669.42. No abstract available.

PMID:
24374697
13.

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

Au PY, Racher HE, Graham JM Jr, Kramer N, Lowry RB, Parboosingh JS, Innes AM; FORGE Canada Consortium.

Am J Med Genet A. 2014 Mar;164A(3):676-84. doi: 10.1002/ajmg.a.36340. Epub 2013 Dec 19. Review.

PMID:
24357594
14.

Validation of congenital anomaly coding in Canada's administrative databases compared with a congenital anomaly registry.

Metcalfe A, Sibbald B, Lowry RB, Tough S, Bernier FP.

Birth Defects Res A Clin Mol Teratol. 2014 Feb;100(2):59-66. doi: 10.1002/bdra.23206. Epub 2013 Dec 4.

PMID:
24307632
15.

Interstitial deletions at 6q14.1q15 associated with developmental delay and a marfanoid phenotype.

Lowry RB, Chernos JE, Connelly MS, Wyse JP.

Mol Syndromol. 2013 Sep;4(6):280-4. doi: 10.1159/000354038. Epub 2013 Aug 1.

16.

Birth defect registries: the vagaries of management- the British Columbia and Alberta case histories.

Lowry RB, Bedard T.

J Registry Manag. 2013 Summer;40(2):98-103.

PMID:
24002135
17.

Folic acid fortification and the birth prevalence of congenital heart defect cases in Alberta, Canada.

Bedard T, Lowry RB, Sibbald B, Harder JR, Trevenen C, Horobec V, Dyck JD.

Birth Defects Res A Clin Mol Teratol. 2013 Aug;97(8):564-70. doi: 10.1002/bdra.23162. Epub 2013 Aug 2.

PMID:
23913528
18.

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.

Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.

19.

Comment to the paper: "Multiple neural tube defects may not be very rare" by S.K. Mahalik et al.

Lowry RB, Sibbald B, Sarnat HB.

Childs Nerv Syst. 2013 Jun;29(6):881-2. doi: 10.1007/s00381-013-2071-2. Epub 2013 Apr 6. No abstract available.

PMID:
23563808
20.

The birth prevalence of cleft lip and palate in canadian aboriginal peoples: a registry study.

Vrouwe SQ, Lowry RB, Olson JL, Wilkes GH.

Plast Reconstr Surg. 2013 Apr;131(4):649e-50e. doi: 10.1097/PRS.0b013e318289d045. No abstract available.

PMID:
23542293

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