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Items: 1 to 50 of 52

1.

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.

Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA.

Genome Res. 2017 Aug;27(8):1323-1335. doi: 10.1101/gr.219899.116. Epub 2017 Jun 19.

2.

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.

Zarrei M, Merico D, Kellam B, Engchuan W, Scriver T, Jokhan R, Wilson MD, Parr J, Lemire EG, Stavropoulos DJ, Scherer SW.

Am J Med Genet A. 2017 May;173(5):1287-1293. doi: 10.1002/ajmg.a.38176. Epub 2017 Apr 3.

PMID:
28371330
3.

Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.

Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG.

Am J Med Genet A. 2017 May;173(5):1452. doi: 10.1002/ajmg.a.38227. Epub 2017 Mar 28. No abstract available.

PMID:
28371264
4.

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.

Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG.

Am J Med Genet A. 2017 Mar;173(3):596-600. doi: 10.1002/ajmg.a.37983. Epub 2016 Sep 27.

PMID:
27671926
5.

An Acute Encephalopathy Accelerated by a Large Amount of Milk Consumption.

Moien-Afshari F, Mirhosseini NZ, Lemire EG, Voll CL.

Can J Neurol Sci. 2016 Mar;43(2):345-6. doi: 10.1017/cjn.2015.297. Epub 2015 Nov 9. No abstract available.

PMID:
26549653
6.

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.

Baskin B, Stavropoulos DJ, Rebeiro PA, Orr J, Li M, Steele L, Marshall CR, Lemire EG, Boycott KM, Gibson W, Ray PN.

Mol Genet Genomic Med. 2014 Nov;2(6):539-47. doi: 10.1002/mgg3.108. Epub 2014 Sep 15.

7.

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP.

Nat Commun. 2014 Jul 22;5:4483. doi: 10.1038/ncomms5483.

8.

Perinatal and childhood morbidity and mortality in congenital analbuminemia.

Toye JM, Lemire EG, Baerg KL.

Paediatr Child Health. 2012 Jun;17(6):e20-3.

9.

Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series.

Bygarski E, Paterson M, Lemire EG.

J Med Case Rep. 2013 Apr 26;7:117. doi: 10.1186/1752-1947-7-117.

10.

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M; FORGE Canada Consortium, Triggs-Raine B, Zelinski T.

Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.

11.

Spinal CSF leaks: mimicker of primary headache disorder in a child.

Harder S, Griebel RW, Lemire EG, Kriegler S, Gitlin J, Seshia SS.

Can J Neurol Sci. 2012 May;39(3):388-92. No abstract available.

PMID:
22547523
12.

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP.

Am J Med Genet A. 2011 Aug;155A(8):1848-56. doi: 10.1002/ajmg.a.34057. Epub 2011 Jul 7.

PMID:
21739576
13.

Birt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax.

Pierce CW, Hull PR, Lemire EG, Marciniuk DD.

CMAJ. 2011 Jun 14;183(9):E601-3. doi: 10.1503/cmaj.092121. Epub 2011 Feb 28. No abstract available.

14.

Neuroimaging and neurophysiology studies in carriers of cree leukoencephalopathy.

Huntsman RJ, Lemire EG, Voll CL, Wiebe S, Lowry NJ.

Can J Neurol Sci. 2011 Mar;38(2):347-8. No abstract available.

PMID:
21320845
15.

Familial interstitial pulmonary fibrosis: a large family with atypical clinical features.

Chibbar R, Gjevre JA, Shih F, Neufeld H, Lemire EG, Fladeland DA, Cockcroft DW.

Can Respir J. 2010 Nov-Dec;17(6):269-74.

16.

Familial RYR 1 mutation associated with mild and severe central core disease.

Erendzhinova E, Robinson CA, Lowry NJ, Lemire EG.

Can J Neurol Sci. 2010 Jul;37(4):528-31. No abstract available.

PMID:
20724266
17.

Father-to-son transmission of an X-linked gene: a case of paternal sex chromosome heterodisomy.

Ferrier RA, Lowry RB, Lemire EG, Stoeber GP, Howard J, Parboosingh JS.

Am J Med Genet A. 2009 Dec;149A(12):2871-3. doi: 10.1002/ajmg.a.32994. No abstract available.

PMID:
19921643
18.

Hypotonia and infantile spasms: a new phenotype of coenzyme Q10 deficiency?

Huntsman RJ, Lemire EG, Dunham CP.

Can J Neurol Sci. 2009 Jan;36(1):105-8. No abstract available.

PMID:
19294900
19.

Sotos syndrome: antenatal presentation.

Thomas A, Lemire EG.

Am J Med Genet A. 2008 May 15;146A(10):1312-3. doi: 10.1002/ajmg.a.32283.

PMID:
18386800
20.

Family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutation.

Metcalfe KA, Foulkes WD, Kim-Sing C, Ainsworth P, Rosen B, Armel S, Poll A, Eisen A, Gilchrist D, Chudley A, Ghadirian P, Maugard C, Lemire EG, Sun P, Narod SA.

Clin Genet. 2008 May;73(5):474-9. doi: 10.1111/j.1399-0004.2008.00988.x. Epub 2008 Mar 12. Review.

PMID:
18341607
21.

Clinical and radiologic findings in an adult male with dysosteosclerosis.

Lemire EG, Wiebe S.

Am J Med Genet A. 2008 Feb 15;146A(4):474-8. doi: 10.1002/ajmg.a.32182.

PMID:
18203158
22.
23.

Peripheral neuropathy in a child with Cree leukodystrophy.

Huntsman RJ, Seshia S, Lowry N, Lemire EG, Harder SL.

J Child Neurol. 2007 Jun;22(6):766-8.

PMID:
17641267
24.

Ophthalmic findings in Setleis syndrome: two new cases in a mother and son.

Kent JS, Romanchuk KG, Lemire EG.

Can J Ophthalmol. 2007 Jun;42(3):471-3.

PMID:
17508049
25.

Discordant intrauterine environment may explain discordance in monozygotic twins.

Lemire EG.

Am J Med Genet A. 2007 Jun 1;143A(11):1260. No abstract available.

PMID:
17497719
26.

Variation in rates of uptake of preventive options by Canadian women carrying the BRCA1 or BRCA2 genetic mutation.

Metcalfe KA, Ghadirian P, Rosen B, Foulkes W, Kim-Sing C, Eisen A, Ainsworth P, Horsman D, Maugard C, Provencher D, Robideaux A, Gilchrist D, Chudley A, Lemire EG, Armel S, Finch A, Sun P, Narod SA.

Open Med. 2007 Aug 13;1(2):e92-8.

27.

Omphalocele in an infant with Cornelia de Lange syndrome.

Lemire EG.

Clin Dysmorphol. 2006 Oct;15(4):255-6.

PMID:
16957487
28.

Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation.

Breitling M, Lemire EG, Rabin M.

Pediatr Radiol. 2006 Aug;36(8):866-9. Epub 2006 Jun 8.

PMID:
16761119
29.

Epidural labour analgesia in a parturient with Noonan syndrome: a case report.

McBain J, Lemire EG, Campbell DC.

Can J Anaesth. 2006 Mar;53(3):274-8.

PMID:
16527793
30.

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

Abdalla SA, Cymerman U, Rushlow D, Chen N, Stoeber GP, Lemire EG, Letarte M.

Hum Mutat. 2005 Mar;25(3):320-1.

PMID:
15712271
31.

A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.

Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T.

Am J Med Genet A. 2005 Jan 15;132A(2):136-43.

PMID:
15578624
32.
33.

Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis.

Chibbar R, Shih F, Baga M, Torlakovic E, Ramlall K, Skomro R, Cockcroft DW, Lemire EG.

Mod Pathol. 2004 Aug;17(8):973-80.

35.

Saskatchewan continues breast cancer screening.

Lemire EG.

CMAJ. 2002 Apr 16;166(8):1012. No abstract available.

36.

Bowen-Conradi syndrome.

Lemire EG.

Clin Dysmorphol. 2002 Apr;11(2):149. No abstract available.

PMID:
12002151
37.

Dominant beta-thalassemia due to a newly identified frameshift mutation in exon 3 (codon 113, GTG-->Tg).

Waye JS, Walker L, Lafferty J, Lemire EG, Chui DH.

Hemoglobin. 2002 Feb;26(1):83-6. No abstract available.

PMID:
11939518
39.

Hereditary nonpolyposis colon cancer.

Lemire EG.

CMAJ. 2001 Nov 13;165(10):1300. No abstract available.

40.

Two brothers with severe developmental delay, growth retardation and unusual appearance.

Lemire EG, Stoeber GP, Anselmo M, Lowry RB.

Clin Dysmorphol. 2001 Apr;10(2):111-4.

PMID:
11310990
41.

Hallowed beginning.

Lemire EG, Chudley AE.

Clin Genet. 2000 Feb;57(2):101-2. No abstract available.

PMID:
10735629
42.
43.

Unusual phenotype in partial trisomy 14.

Lemire EG, Cardwell S.

Am J Med Genet. 1999 Dec 3;87(4):294-6.

PMID:
10588832
44.

Familial neuroblastoma: report of a kindred with later age at diagnosis.

Lemire EG, Chodirker BN, Williams GJ, Seargeant LE, Israels SJ, Phillips SM, de Nanassy JA, Maris JM, Yanofsky RA.

J Pediatr Hematol Oncol. 1998 Sep-Oct;20(5):489-93.

PMID:
9787327
45.
46.

A familial disorder with duodenal atresia and tetralogy of Fallot.

Lemire EG, Evans JA, Giddins NG, Harman CR, Wiseman NE, Chudley AE.

Am J Med Genet. 1996 Dec 2;66(1):39-44.

PMID:
8957509
47.

Acute pancreatitis in a patient with glutaric acidemia type I.

Lemire EG, Moroz S, Pollack B, Postuma R, Greenberg CR.

J Pediatr. 1996 Apr;128(4):589-90. No abstract available.

PMID:
8618204
48.

Mutations in the structural gene for cytochrome c result in deficiency of both cytochromes aa3 and c in Neurospora crassa.

Bottorff DA, Parmaksizoglu S, Lemire EG, Coffin JW, Bertrand H, Nargang FE.

Curr Genet. 1994 Oct;26(4):329-35.

PMID:
7882427
49.

Alteration of the cytochrome c oxidase subunit 2 gene in the [exn-5] mutant of Neurospora crassa.

Lemire EG, Percy JA, Correia JM, Crowther BM, Nargang FE.

Curr Genet. 1991 Jul;20(1-2):121-7.

PMID:
1657411
50.

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