Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM.
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Nat Genet. 2003 Jan;33(1):97-101. Epub 2002 Dec 23.
PMID: 12496757
Grimes DA, Han F, Bulman D, Nicolson ML, Suchowersky O.
Hereditary chin trembling: a new family with exclusion of the chromosome 9q13-q21 Locus.
Mov Disord. 2002 Nov;17(6):1390-2.
PMID: 12465093
Grimes DA, Grimes JD, Racacho L, Scoggan KA, Han F, Schwarz BA, Woulfe J, Bulman D.
Large French-Canadian family with Lewy body parkinsonism: exclusion of known loci.
Mov Disord. 2002 Nov;17(6):1205-12.
PMID: 12465058
Orlacchio A, Kawarai T, Rogaeva E, Song YQ, Paterson AD, Bernardi G, St George-Hyslop PH.
Clinical and genetic study of a large Italian family linked to SPG12 locus.
Neurology. 2002 Nov 12;59(9):1395-401.
PMID: 12427890
Grimes DA, Han F, Lang AE, St George-Hyssop P, Racacho L, Bulman DE.
A novel locus for inherited myoclonus-dystonia on 18p11.
Neurology. 2002 Oct 22;59(8):1183-6.
PMID: 12391345
Ramanathan S, Bihoreau MT, Paterson AD, Marandi L, Gauguier D, Poussier P.
Thymectomy and radiation-induced type 1 diabetes in nonlymphopenic BB rats.
Diabetes. 2002 Oct;51(10):2975-81.
PMID: 12351436
Vincent JB, Petek E, Thevarkunnel S, Kolozsvari D, Cheung J, Patel M, Scherer SW.
The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system.
Genomics. 2002 Sep;80(3):283-94.
PMID: 12213198
Estivill X, Cheung J, Pujana MA, Nakabayashi K, Scherer SW, Tsui LC.
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.
Hum Mol Genet. 2002 Aug 15;11(17):1987-95.
PMID: 12165560
Curcio SA, Kawarai T, Paterson AD, Maletta RG, Puccio G, Perri M, Di Natale M, Palermo S, Foncin JF, Hyslop PH, Bruni AC.
A large Calabrian kindred segregating frontotemporal dementia.
J Neurol. 2002 Jul;249(7):911-22.
PMID: 12140677
Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND.
Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
J Am Soc Nephrol. 2002 Aug;13(8):2077-84.
PMID: 12138139
Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I.
Genetic analysis of patients with the Saethre-Chotzen phenotype.
Am J Med Genet. 2002 Jun 15;110(2):136-43.
PMID: 12116251
Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece M, Weksberg R, Oshimura M, Moore GE, Scherer SW.
Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.
Hum Mol Genet. 2002 Jul 15;11(15):1743-56.
PMID: 12095916
Paterson AD, Wang KR, Lupea D, St George-Hyslop P, Pei Y.
Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease.
Am J Kidney Dis. 2002 Jul;40(1):16-20.
PMID: 12087556
Hellman A, Zlotorynski E, Scherer SW, Cheung J, Vincent JB, Smith DI, Trakhtenbrot L, Kerem B.
A role for common fragile site induction in amplification of human oncogenes.
Cancer Cell. 2002 Feb;1(1):89-97.
PMID: 12086891
Xiong H, Chen Y, Yi Y, Tsuchiya K, Moeckel G, Cheung J, Liang D, Tham K, Xu X, Chen XZ, Pei Y, Zhao ZJ, Wu G.
A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease.
Genomics. 2002 Jul;80(1):96-104.
PMID: 12079288
Taylor MD, Liu L, Raffel C, Hui CC, Mainprize TG, Zhang X, Agatep R, Chiappa S, Gao L, Lowrance A, Hao A, Goldstein AM, Stavrou T, Scherer SW, Dura WT, Wainwright B, Squire JA, Rutka JT, Hogg D.
Mutations in SUFU predispose to medulloblastoma.
Nat Genet. 2002 Jul;31(3):306-10. Epub 2002 Jun 17.
PMID: 12068298
Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM.
Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.
Eur J Hum Genet. 2002 Apr;10(4):250-8.
PMID: 12032733
Armour CM, McCready ME, Baig A, Hunter AG, Bulman DE.
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
J Med Genet. 2002 Mar;39(3):186-8. No abstract available.
PMID: 11897820
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW.
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Genomics. 2002 Feb;79(2):186-96.
PMID: 11829489