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Items: 1 to 50 of 67

1.

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.

Driver SGW, Jackson MR, Richter K, Tomlinson P, Brockway B, Halliday BJ, Markie DM, Robertson SP, Wade EM.

Eur J Hum Genet. 2019 Dec 2. doi: 10.1038/s41431-019-0546-7. [Epub ahead of print]

PMID:
31792352
2.

Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus.

Gowans LJJ, Cameron-Christie S, Slayton RL, Busch T, Romero-Bustillos M, Eliason S, Sweat M, Sobreira N, Yu W, Kantaputra PN, Wohler E, Adeyemo WL, Lachke SA, Anand D, Campbell C, Drummond BK, Markie DM, van Vuuren WJ, van Vuuren LJ, Casamassimo PS, Ettinger R, Owais A, van Staden I, Amendt BA, Adeyemo AA, Murray JC, Robertson SP, Butali A.

Front Genet. 2019 Sep 20;10:800. doi: 10.3389/fgene.2019.00800. eCollection 2019.

3.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.

Am J Hum Genet. 2019 Sep 5;105(3):669. doi: 10.1016/j.ajhg.2019.08.007. No abstract available.

4.

Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family.

Cameron-Christie SR, Wilde J, Gray A, Tankard R, Bahlo M, Markie D, Evans HM, Robertson SP.

BMC Med Genomics. 2018 Dec 18;11(1):121. doi: 10.1186/s12920-018-0440-0.

5.

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.

O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE, Guerrini R, Markie DM, Götz M, Cappello S, Robertson SP.

Cell Rep. 2018 Dec 4;25(10):2729-2741.e6. doi: 10.1016/j.celrep.2018.11.029.

6.

Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.

Halliday BJ, Fukuzawa R, Markie DM, Grundy RG, Ludgate JL, Black MA, Skeen JE, Weeks RJ, Catchpoole DR, Roberts AGK, Reeve AE, Morison IM.

PLoS Genet. 2018 Jun 18;14(6):e1007399. doi: 10.1371/journal.pgen.1007399. eCollection 2018 Jun.

7.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.

Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):669.

8.

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex.

O'Neill AC, Kyrousi C, Einsiedler M, Burtscher I, Drukker M, Markie DM, Kirk EP, Götz M, Robertson SP, Cappello S.

Front Cell Neurosci. 2018 Mar 12;12:57. doi: 10.3389/fncel.2018.00057. eCollection 2018.

9.

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.

Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W, Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, García-Miñaúr S, Sugito S, Nightingale S, Markie DM, Dudding T, Kapur RP, Robertson SP.

Hum Mutat. 2018 Jan;39(1):103-113. doi: 10.1002/humu.23355. Epub 2017 Nov 2.

PMID:
29024177
10.

Mutations in the netrin-1 gene cause congenital mirror movements.

Méneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guérois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chédotal A, Dusart I, Roze E, Markie D.

J Clin Invest. 2017 Nov 1;127(11):3923-3936. doi: 10.1172/JCI95442. Epub 2017 Sep 25.

11.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E; Deciphering Developmental Disorders Study, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA.

Am J Hum Genet. 2017 Jul 6;101(1):139-148. doi: 10.1016/j.ajhg.2017.06.002.

12.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC.

Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.

13.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP.

Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12.

PMID:
28498505
14.

An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.

Stayner C, Poole CA, McGlashan SR, Pilanthananond M, Brauning R, Markie D, Lett B, Slobbe L, Chae A, Johnstone AC, Jensen CG, McEwan JC, Dittmer K, Parker K, Wiles A, Blackburne W, Leichter A, Leask M, Pinnapureddy A, Jennings M, Horsfield JA, Walker RJ, Eccles MR.

Sci Rep. 2017 May 9;7(1):1601. doi: 10.1038/s41598-017-01519-4.

15.

A novel role for the DNA repair gene Rad51 in Netrin-1 signalling.

Glendining KA, Markie D, Gardner RJ, Franz EA, Robertson SP, Jasoni CL.

Sci Rep. 2017 Jan 6;7:39823. doi: 10.1038/srep39823.

16.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP.

Am J Hum Genet. 2016 Aug 4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15.

17.

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.

Oliver VF, van Bysterveldt KA, Cadzow M, Steger B, Romano V, Markie D, Hewitt AW, Mackey DA, Willoughby CE, Sherwin T, Crosier PS, McGhee CN, Vincent AL.

Ophthalmology. 2016 Apr;123(4):709-22. doi: 10.1016/j.ophtha.2015.12.008. Epub 2016 Jan 16.

18.

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.

Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen KE, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP.

Am J Hum Genet. 2015 Dec 3;97(6):837-47. doi: 10.1016/j.ajhg.2015.11.001.

19.

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP.

Am J Hum Genet. 2015 Apr 2;96(4):623-30. doi: 10.1016/j.ajhg.2015.02.010. Epub 2015 Mar 26.

20.

Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.

Franz EA, Chiaroni-Clarke R, Woodrow S, Glendining KA, Jasoni CL, Robertson SP, Gardner RJM, Markie D.

J Neurol Sci. 2015 Apr 15;351(1-2):140-145. doi: 10.1016/j.jns.2015.03.006. Epub 2015 Mar 10.

PMID:
25813273
21.

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP.

Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22.

PMID:
24056717
22.

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.

Tiffin HR, Jenkins ZA, Gray MJ, Cameron-Christie SR, Eaton J, Aftimos S, Markie D, Robertson SP.

Neurogenetics. 2013 May;14(2):113-21. doi: 10.1007/s10048-013-0359-8. Epub 2013 Mar 2.

PMID:
23456229
23.

Analysis of the DISC1 translocation partner (11q14.3) in genetic risk of schizophrenia.

Debono R, Topless R, Markie D, Black MA, Merriman TR.

Genes Brain Behav. 2012 Oct;11(7):859-63. doi: 10.1111/j.1601-183X.2012.00832.x. Epub 2012 Sep 4.

24.

Evidence of associations between bipolar disorder and the brain-derived neurotrophic factor (BDNF) gene.

Sears C, Markie D, Olds R, Fitches A.

Bipolar Disord. 2011 Nov-Dec;13(7-8):630-7. doi: 10.1111/j.1399-5618.2011.00955.x.

PMID:
22085476
25.

Cholecystokinin system genes: associations with panic and other psychiatric disorders.

Wilson J, Markie D, Fitches A.

J Affect Disord. 2012 Feb;136(3):902-8. doi: 10.1016/j.jad.2011.09.011. Epub 2011 Oct 5.

PMID:
21978736
26.

Analysis of associations for candidate genes with anxiety disorders.

Wilson J, Markie D, Fitches A.

Psychiatry Res. 2011 Sep 30;189(2):324-5. doi: 10.1016/j.psychres.2011.06.021. Epub 2011 Aug 4. No abstract available.

PMID:
21816485
27.

Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.

Vincent AL, Markie DM, De Karolyi B, Wheeldon CE, Patel DV, Grupcheva CN, McGhee CN.

Mol Vis. 2009 Aug 26;15:1700-8.

28.

Mutations in PYCR1 cause cutis laxa with progeroid features.

Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U.

Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2.

PMID:
19648921
29.

Renal function is associated with arterial stiffness and predicts outcome in patients with coronary artery disease.

Ilyas B, Dhaun N, Markie D, Stansell P, Goddard J, Newby DE, Webb DJ.

QJM. 2009 Mar;102(3):183-91. doi: 10.1093/qjmed/hcn171. Epub 2009 Jan 7.

PMID:
19129249
30.

Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.

van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP.

Am J Med Genet A. 2008 Sep 15;146A(18):2376-84. doi: 10.1002/ajmg.a.32482.

PMID:
18698629
31.

Genomic reconstruction by serial mitotic recombination of yeast artificial chromosomes.

Markie D, Jones E, Ragoussis J.

Methods Mol Biol. 2006;349:117-26.

PMID:
17071978
32.

Markers, selection, and media in yeast artificial chromosome cloning.

Markie D.

Methods Mol Biol. 2006;349:1-12.

PMID:
17071968
33.

Two-hybrid reporter vectors for gap repair cloning.

Semple JI, Prime G, Wallis LJ, Sanderson CM, Markie D.

Biotechniques. 2005 Jun;38(6):927-34.

34.
35.

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Järvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C.

Am J Hum Genet. 2001 Oct;69(4):704-11. Epub 2001 Aug 30.

36.

The small GTPase RAC3 gene is located within chromosome band 17q25.3 outside and telomeric of a region commonly deleted in breast and ovarian tumours.

Morris CM, Haataja L, McDonald M, Gough S, Markie D, Groffen J, Heisterkamp N.

Cytogenet Cell Genet. 2000;89(1-2):18-23.

PMID:
10894930
37.

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.

Woodford-Richens K, Bevan S, Churchman M, Dowling B, Jones D, Norbury CG, Hodgson SV, Desai D, Neale K, Phillips RK, Young J, Leggett B, Dunlop M, Rozen P, Eng C, Markie D, Rodriguez-Bigas MA, Sheridan E, Iwama T, Eccles D, Smith GT, Kim JC, Kim KM, Sampson JR, Evans G, Tejpar S, Bodmer WF, Tomlinson IP, Houlston RS.

Gut. 2000 May;46(5):656-60.

38.

Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome.

Bevan S, Woodford-Richens K, Rozen P, Eng C, Young J, Dunlop M, Neale K, Phillips R, Markie D, Rodriguez-Bigas M, Leggett B, Sheridan E, Hodgson S, Iwama T, Eccles D, Bodmer W, Houlston R, Tomlinson I.

Gut. 1999 Sep;45(3):406-8.

39.

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

Ylikorkala A, Avizienyte E, Tomlinson IP, Tiainen M, Roth S, Loukola A, Hemminki A, Johansson M, Sistonen P, Markie D, Neale K, Phillips R, Zauber P, Twama T, Sampson J, Järvinen H, Mäkelä TP, Aaltonen LA.

Hum Mol Genet. 1999 Jan;8(1):45-51.

PMID:
9887330
40.

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

Houlston R, Bevan S, Williams A, Young J, Dunlop M, Rozen P, Eng C, Markie D, Woodford-Richens K, Rodriguez-Bigas MA, Leggett B, Neale K, Phillips R, Sheridan E, Hodgson S, Iwama T, Eccles D, Bodmer W, Tomlinson I.

Hum Mol Genet. 1998 Nov;7(12):1907-12.

PMID:
9811934
41.

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

Olschwang S, Markie D, Seal S, Neale K, Phillips R, Cottrell S, Ellis I, Hodgson S, Zauber P, Spigelman A, Iwama T, Loff S, McKeown C, Marchese C, Sampson J, Davies S, Talbot I, Wyke J, Thomas G, Bodmer W, Hemminki A, Avizienyte E, de la Chapelle A, Aaltonen L, Tomlinson I, et al.

J Med Genet. 1998 Jan;35(1):42-4.

42.

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.

Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA.

Nature. 1998 Jan 8;391(6663):184-7.

PMID:
9428765
43.

Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.

Marsh DJ, Roth S, Lunetta KL, Hemminki A, Dahia PL, Sistonen P, Zheng Z, Caron S, van Orsouw NJ, Bodmer WF, Cottrell SE, Dunlop MG, Eccles D, Hodgson SV, Järvinen H, Kellokumpu I, Markie D, Neale K, Phillips R, Rozen P, Syngal S, Vijg J, Tomlinson IP, Aaltonen LA, Eng C.

Cancer Res. 1997 Nov 15;57(22):5017-21.

44.

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF 3rd, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA.

Science. 1997 Jul 11;277(5323):228-31.

45.

Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis.

Hemminki A, Tomlinson I, Markie D, Järvinen H, Sistonen P, Björkqvist AM, Knuutila S, Salovaara R, Bodmer W, Shibata D, de la Chapelle A, Aaltonen LA.

Nat Genet. 1997 Jan;15(1):87-90.

PMID:
8988175
46.

A simple assay for optimizing yeast-mammalian cell fusion conditions.

Markie D.

Mol Biotechnol. 1996 Oct;6(2):99-104.

PMID:
8970165
47.

Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease.

Tomlinson IP, Olschwang S, Abelovitch D, Nakamura Y, Bodmer WF, Thomas G, Markie D.

Ann Hum Genet. 1996 Sep;60(5):377-84.

PMID:
8912790
48.
49.

Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q.

Thomas HJ, Whitelaw SC, Cottrell SE, Murday VA, Tomlinson IP, Markie D, Jones T, Bishop DT, Hodgson SV, Sheer D, Northover JM, Talbot IC, Solomon E, Bodmer WF.

Am J Hum Genet. 1996 Apr;58(4):770-6.

50.

Markers, selection, and media in YAC cloning.

Markie D.

Methods Mol Biol. 1996;54:359-71. No abstract available.

PMID:
8597803

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