Goobie S - Search Results

1

Genetic analysis of familial myelodysplastic syndrome: absence of linkage to chromosomes 5q31 and 7q22.

Mandla SG, Goobie S, Kumar RT, Hayne O, Zayed E, Guernsey DL, Greer WL. Mandla SG, et al. Among authors: goobie s. Cancer Genet Cytogenet. 1998 Sep;105(2):113-8. doi: 10.1016/s0165-4608(98)00017-x. Cancer Genet Cytogenet. 1998. PMID: 9723026

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

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

5

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.

Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM. Popovic M, et al. Among authors: goobie s. Eur J Hum Genet. 2002 Apr;10(4):250-8. doi: 10.1038/sj.ejhg.5200798. Eur J Hum Genet. 2002. PMID: 12032733

6

The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.

Heikoop D, Brick L, Chitayat D, Colaiacovo S, Dupuis L, Faghfoury H, Goobie S, Mendoza R, Napier M, Nowaczyk M, Oh R, Silver J, Prasad C, Saleh M. Heikoop D, et al. Among authors: goobie s. Am J Med Genet A. 2021 Dec;185(12):3793-3803. doi: 10.1002/ajmg.a.62452. Epub 2021 Aug 20. Am J Med Genet A. 2021. PMID: 34414661

7

Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance.

Ginzberg H, Shin J, Ellis L, Goobie S, Morrison J, Corey M, Durie PR, Rommens JM. Ginzberg H, et al. Among authors: goobie s. Am J Hum Genet. 2000 Apr;66(4):1413-6. doi: 10.1086/302856. Epub 2000 Mar 14. Am J Hum Genet. 2000. PMID: 10739765 Free PMC article.

8

X-linked BCOR-related syndrome in two male siblings.

Archer NE, Mercer L, Goobie S, Velsher L, Colaiacovo S, Prasad C. Archer NE, et al. Among authors: goobie s. Clin Dysmorphol. 2021 Apr 1;30(2):104-109. doi: 10.1097/MCD.0000000000000359. Clin Dysmorphol. 2021. PMID: 33229924 No abstract available.

9

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

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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