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Items: 17

  • Showing results for andrea guerin. Your search for Andrea Geurin retrieved no results.
1.

Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism.

Sjaarda CP, Wood S, McNaughton AJM, Taylor S, Hudson ML, Liu X, Guerin A, Ayub M.

J Hum Genet. 2019 Dec 12. doi: 10.1038/s10038-019-0707-0. [Epub ahead of print]

PMID:
31827253
2.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature.

Ho B, MacKenzie J, Walia J, Geraghty M, Smith G, Nedvidek J, Guerin A.

JIMD Rep. 2019 Mar 14;46(1):28-34. doi: 10.1002/jmd2.12025. eCollection 2019 Mar.

3.

Caffey Disease.

Guerin A, Dupuis L, Mendoza-Londono R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2012 Aug 2 [updated 2019 Jun 13].

4.

Response to phenotypic hetergeneity of POMT2 variants.

Guerin A, Wilson G, Abdullah S, Mertens L, Yoon G, Carter M.

Am J Med Genet A. 2018 Mar;176(3):746-747. doi: 10.1002/ajmg.a.38591. Epub 2018 Jan 25. No abstract available.

PMID:
29368392
5.

Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

Abdullah S, Hawkins C, Wilson G, Yoon G, Mertens L, Carter MT, Guerin A.

Am J Med Genet A. 2017 Nov;173(11):3082-3086. doi: 10.1002/ajmg.a.38394. Epub 2017 Oct 5.

PMID:
28980384
6.

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T, Chong K, Sirkin WL, Scherer SW, Bérubé-Simard FA, Pilon N.

Am J Med Genet A. 2017 Nov;173(11):3070-3074. doi: 10.1002/ajmg.a.38354. Epub 2017 Sep 12.

PMID:
28898547
7.

Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question.

Goh E, Guerin A, Lazier J, Goobie S, Nelson TN, Agatep R, Siu VM, Niederhoffer KY, Richer J.

J Med Genet. 2018 Feb;55(2):86-88. doi: 10.1136/jmedgenet-2017-104924. Epub 2017 Aug 19. No abstract available.

PMID:
28822975
8.

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR.

NPJ Genom Med. 2016 Jan 13;1. pii: 15012. doi: 10.1038/npjgenmed.2015.12.

9.

Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.

Nimmo GA, Guerin A, Badilla-Porras R, Stavropoulos DJ, Yoon G, Carter MT.

Am J Med Genet A. 2016 Mar;170(3):712-6. doi: 10.1002/ajmg.a.37483. Epub 2015 Dec 8.

PMID:
26647099
10.

Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.

Guerin A, So J, Mireskandari K, Jougeh-Doust S, Chisholm C, Klatt R, Richer J.

Am J Med Genet A. 2015 Feb;167A(2):403-6. doi: 10.1002/ajmg.a.36841. Epub 2014 Nov 25.

PMID:
25425531
11.

Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.

Guerin A, Aziz AS, Mutch C, Lewis J, Go CY, Mercimek-Mahmutoglu S.

J Child Neurol. 2015 Aug;30(9):1218-25. doi: 10.1177/0883073814550829. Epub 2014 Oct 7. Review.

PMID:
25296925
12.

XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome.

Siriwardena K, Al-Maawali A, Guerin A, Blaser S, Chitayat D.

Am J Med Genet A. 2013 Jul;161A(7):1714-7. doi: 10.1002/ajmg.a.35945. Epub 2013 May 17.

PMID:
23686794
13.

Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.

Guerin A, Stavropoulos DJ, Diab Y, Chénier S, Christensen H, Kahr WH, Babul-Hirji R, Chitayat D.

Am J Med Genet A. 2012 Oct;158A(10):2551-6. doi: 10.1002/ajmg.a.35621. Epub 2012 Sep 10.

PMID:
22965935
14.

Stepwise developmental regression associated with novel CACNA1A mutation.

Guerin AA, Feigenbaum A, Donner EJ, Yoon G.

Pediatr Neurol. 2008 Nov;39(5):363-4. doi: 10.1016/j.pediatrneurol.2008.07.030.

PMID:
18940563
15.

Use of maternal GHb concentration to estimate the risk of congenital anomalies in the offspring of women with prepregnancy diabetes.

Guerin A, Nisenbaum R, Ray JG.

Diabetes Care. 2007 Jul;30(7):1920-5. Epub 2007 Apr 19.

PMID:
17446531
16.

Trends in obesity in pregnancy.

Ray JG, Nisenbaum R, Singh G, Meier C, Guerin A, Wyatt PR, Vermeulen MJ.

Epidemiology. 2007 Mar;18(2):280-1. No abstract available.

PMID:
17301710
17.

Association study of the brain-derived neurotrophic factor gene and childhood aggression.

Guerin AA, Beitchman JH, Strauss J, Kennedy JL.

Psychiatr Genet. 2007 Feb;17(1):7-8. No abstract available.

PMID:
17167336

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