Goobie S - Search Results

1

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Goh ES, et al. Among authors: goobie s. Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639462

2

Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation.

Goobie S, Morrison J, Ginzberg H, Ellis L, Corey M, Masuno M, Imaizumi K, Kuroki Y, Fujiwara TM, Morgan K, Durie PR, Rommens JM. Goobie S, et al. Am J Med Genet. 1999 Jul 16;85(2):171-4. doi: 10.1002/(sici)1096-8628(19990716)85:2<171::aid-ajmg12>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10406671

3

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM. Goobie S, et al. Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 Mar 15. Am J Hum Genet. 2001. PMID: 11254457 Free PMC article.

4

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.

Goobie S, Knijnenburg J, Fitzpatrick D, Sharkey FH, Lionel AC, Marshall CR, Azam T, Shago M, Chong K, Mendoza-Londono R, den Hollander NS, Ruivenkamp C, Maher E, Tanke HJ, Szuhai K, Wintle RF, Scherer SW. Goobie S, et al. Cytogenet Genome Res. 2008;123(1-4):65-78. doi: 10.1159/000184693. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287140 Free PMC article.

5

Symptomatic dystrophinopathies in female children.

Seemann N, Selby K, McAdam L, Biggar D, Kolski H, Goobie S, Yoon G, Campbell C; Canadian Pediatric Neuromuscular Group. Seemann N, et al. Among authors: goobie s. Neuromuscul Disord. 2011 Mar;21(3):172-7. doi: 10.1016/j.nmd.2010.11.001. Epub 2010 Dec 24. Neuromuscul Disord. 2011. PMID: 21186124

6

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

Yoon G, Baskin B, Tarnopolsky M, Boycott KM, Geraghty MT, Sell E, Goobie S, Meschino W, Banwell B, Ray PN. Yoon G, et al. Among authors: goobie s. Neurogenetics. 2013 Nov;14(3-4):181-8. doi: 10.1007/s10048-013-0366-9. Epub 2013 Jun 4. Neurogenetics. 2013. PMID: 23733235

7

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

Hashemi B, Bassett A, Chitayat D, Chong K, Feldman M, Flanagan J, Goobie S, Kawamura A, Lowther C, Prasad C, Siu V, So J, Tung S, Speevak M, Stavropoulos DJ, Carter MT. Hashemi B, et al. Among authors: goobie s. Am J Med Genet A. 2015 Sep;167A(9):2098-102. doi: 10.1002/ajmg.a.37134. Epub 2015 May 6. Am J Med Genet A. 2015. PMID: 25946043

8

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, Jung JH, Siu V, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, Dick PT, Hussain AS, Walinga M, Reijenga RG, Gazzellone M, Lionel AC, Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, Bassett AS. Lowther C, et al. Among authors: goobie s. Genet Med. 2017 Jan;19(1):53-61. doi: 10.1038/gim.2016.54. Epub 2016 May 19. Genet Med. 2017. PMID: 27195815 Free PMC article.

9

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

Badalato L, Farhan SM, Dilliott AA; Care4Rare Canada Consortium; Bulman DE, Hegele RA, Goobie SL. Badalato L, et al. Am J Med Genet A. 2017 Jan;173(1):183-189. doi: 10.1002/ajmg.a.38010. Epub 2016 Nov 7. Am J Med Genet A. 2017. PMID: 27991736

10

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. Goh E, et al. Among authors: goobie s. J Med Genet. 2018 Feb;55(2):86-88. doi: 10.1136/jmedgenet-2017-104924. Epub 2017 Aug 19. J Med Genet. 2018. PMID: 28822975 No abstract available.

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