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Results: 1 to 20 of 180

Select item 236641161.

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 May 7. doi:pii: S0002-9297(13)00172-9. 10.1016/j.ajhg.2013.04.011. [Epub ahead of print]

PMID:: 23664116; [PubMed - as supplied by publisher]

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Select item 235638082.

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; [PubMed - in process]

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Select item 235422933.

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; [PubMed - indexed for MEDLINE]

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Select item 233778984.

Congenital heart defects and major structural noncardiac anomalies in Alberta, Canada, 1995-2002.

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

Birth Defects Res A Clin Mol Teratol. 2013 Feb;97(2):79-86. doi: 10.1002/bdra.23104. Epub 2013 Feb 1.

PMID:: 23377898; [PubMed - in process]

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Select item 232700845.

ICD-10 coding for congenital anomalies: a Canadian experience.

Bedard T, Lowry RB, Sibbald B.

J Registry Manag. 2012 Spring;39(1):4-7.

PMID:: 23270084; [PubMed - indexed for MEDLINE]

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Select item 229450246.

Prevalence of esophageal atresia among 18 international birth defects surveillance programs.

Nassar N, Leoncini E, Amar E, Arteaga-Vázquez J, Bakker MK, Bower C, Canfield MA, Castilla EE, Cocchi G, Correa A, Csáky-Szunyogh M, Feldkamp ML, Khoshnood B, Landau D, Lelong N, López-Camelo JS, Lowry RB, McDonnell R, Merlob P, Métneki J, Morgan M, Mutchinick OM, Palmer MN, Rissmann A, Siffel C, Sìpek A, Szabova E, Tucker D, Mastroiacovo P.

Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):893-9. doi: 10.1002/bdra.23067. Epub 2012 Sep 3.

PMID:: 22945024; [PubMed - in process]

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Select item 225691107.

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV.

Eur J Hum Genet. 2012 Dec;20(12):1224-33. doi: 10.1038/ejhg.2012.80. Epub 2012 May 9.

PMID:: 22569110; [PubMed - indexed for MEDLINE]

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Select item 224736368.

Congenital heart defect case ascertainment by the Alberta Congenital Anomalies Surveillance System.

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

Birth Defects Res A Clin Mol Teratol. 2012 Jun;94(6):449-58. doi: 10.1002/bdra.23007. Epub 2012 Apr 4.

PMID:: 22473636; [PubMed - in process]

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Select item 220066619.

Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Orioli IM, Amar E, Bakker MK, Bermejo-Sánchez E, Bianchi F, Canfield MA, Clementi M, Correa A, Csáky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Szabova E, Castilla EE.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):344-57. doi: 10.1002/ajmg.c.30323. Epub 2011 Oct 17. Review.

PMID:: 22006661; [PubMed - indexed for MEDLINE]

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Select item 2200295610.

Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Bermejo-Sánchez E, Cuevas L, Amar E, Bakker MK, Bianca S, Bianchi F, Canfield MA, Castilla EE, Clementi M, Cocchi G, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):288-304. doi: 10.1002/ajmg.c.30319. Epub 2011 Oct 14. Review.

PMID:: 22002956; [PubMed - indexed for MEDLINE]

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Select item 2200295211.

Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research.

Botto LD, Feldkamp ML, Amar E, Carey JC, Castilla EE, Clementi M, Cocchi G, de Walle HE, Halliday J, Leoncini E, Li Z, Lowry RB, Marengo LK, Martínez-Frías ML, Merlob P, Morgan M, Muñoz LL, Rissmann A, Ritvanen A, Scarano G, Mastroiacovo P.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):262-73. doi: 10.1002/ajmg.c.30318. Epub 2011 Oct 14. Review.

PMID:: 22002952; [PubMed - indexed for MEDLINE]

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Select item 2200295112.

Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research.

Feldkamp ML, Botto LD, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Canfield MA, Castilla EE, Clementi M, Csaky-Szunyogh M, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Merlob P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Siffel C, Carey JC.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):333-43. doi: 10.1002/ajmg.c.30317. Epub 2011 Oct 14. Review.

PMID:: 22002951; [PubMed - indexed for MEDLINE]

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Select item 2200294913.

Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature.

Siffel C, Correa A, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Castilla EE, Clementi M, Cocchi G, Csáky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Marengo LK, Mastroiacovo P, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Ritvanen A, Scarano G, Szabova E, Olney RS.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):321-32. doi: 10.1002/ajmg.c.30316. Epub 2011 Oct 14. Review.

PMID:: 22002949; [PubMed - indexed for MEDLINE]

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Select item 2200287814.

Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.

Orioli IM, Amar E, Arteaga-Vazquez J, Bakker MK, Bianca S, Botto LD, Clementi M, Correa A, Csaky-Szunyogh M, Leoncini E, Li Z, López-Camelo JS, Lowry RB, Marengo L, Martínez-Frías ML, Mastroiacovo P, Morgan M, Pierini A, Ritvanen A, Scarano G, Szabova E, Castilla EE.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):358-73. doi: 10.1002/ajmg.c.30324. Epub 2011 Oct 14. Review.

PMID:: 22002878; [PubMed - indexed for MEDLINE]

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Select item 2200280015.

Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):305-20. doi: 10.1002/ajmg.c.30320. Epub 2011 Oct 14. Review.

PMID:: 22002800; [PubMed - indexed for MEDLINE]

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Select item 2256737216.

Application of microarray-based comparative genomic hybridization in prenatal and postnatal settings: three case reports.

Liu J, Bernier F, Lauzon J, Lowry RB, Chernos J.

Genet Res Int. 2011;2011:976398. doi: 10.4061/2011/976398. Epub 2011 Aug 7.

PMID:: 22567372; [PubMed]

Free PMC Article

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Select item 2115788617.

Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding.

Lowry RB, Sibbald B, Bedard T, Hall JG.

Birth Defects Res A Clin Mol Teratol. 2010 Dec;88(12):1057-61. doi: 10.1002/bdra.20738. Epub 2010 Nov 15.

PMID:: 21157886; [PubMed - indexed for MEDLINE]

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Select item 2091998118.

Congenital anomalies - why bother?

Lowry RB.

Med J Aust. 2010 Oct 4;193(7):428. No abstract available.

PMID:: 20919981; [PubMed - indexed for MEDLINE]

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Select item 2057813519.

How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research.

Leoncini E, Botto LD, Cocchi G, Annerén G, Bower C, Halliday J, Amar E, Bakker MK, Bianca S, Canessa Tapia MA, Castilla EE, Csáky-Szunyogh M, Dastgiri S, Feldkamp ML, Gatt M, Hirahara F, Landau D, Lowry RB, Marengo L, McDonnell R, Mathew TM, Morgan M, Mutchinick OM, Pierini A, Poetzsch S, Ritvanen A, Scarano G, Siffel C, Sípek A, Szabova E, Tagliabue G, Vollset SE, Wertelecki W, Zhuchenko L, Mastroiacovo P.

Am J Med Genet A. 2010 Jul;152A(7):1670-80. doi: 10.1002/ajmg.a.33493.

PMID:: 20578135; [PubMed - indexed for MEDLINE]

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Select item 2050331520.

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung BY, Langlois S, Yong SL, Lowry RB, Hildebrandt F, Trnka P.

Am J Med Genet A. 2010 Jun;152A(6):1411-9. doi: 10.1002/ajmg.a.33416.

PMID:: 20503315; [PubMed - indexed for MEDLINE]

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33 free full-text articles in PubMed Central

Application of microarray-based comparative genomic hybridization in prenatal and postnatal settings: three case reports. [Genet Res Int. 2011]
Application of microarray-based comparative genomic hybridization in prenatal and postnatal settings: three case reports.
Liu J, Bernier F, Lauzon J, Lowry RB, Chernos J. Genet Res Int. 2011; 2011:976398. Epub 2011 Aug 7.
The fetal alert network: Surveying congenital anomalies. [Paediatr Child Health. 2007]
The fetal alert network: Surveying congenital anomalies.
Lowry RB, Sibbald B. Paediatr Child Health. 2007 Oct; 12(8):713.
Risk and benefit of drug use during pregnancy. [Int J Med Sci. 2005]
Risk and benefit of drug use during pregnancy.
Bánhidy F, Lowry RB, Czeizel AE. Int J Med Sci. 2005; 2(3):100-6. Epub 2005 Jul 1.

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