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Items: 49

1.

PDXK mutations cause polyneuropathy responsive to PLP supplementation.

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium; SYNaPS Study Group.

Ann Neurol. 2019 Jun 11. doi: 10.1002/ana.25524. [Epub ahead of print]

PMID:
31187503
2.

FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency.

Vandrovcova J, Salzer U, Grimbacher B, Wanders J, Rao K, Thrasher A, Burns S, Gilmore K, Bussel J, Cooper N.

Br J Haematol. 2019 Jun 6. doi: 10.1111/bjh.15979. [Epub ahead of print] No abstract available.

PMID:
31172514
3.

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H.

Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.

PMID:
31028356
4.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H.

Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28.

5.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H.

Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Erratum in: Nat Genet. 2019 May;51(5):920.

PMID:
30926972
6.

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team, Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ.

Genet Med. 2018 Nov;20(11):1414-1422. doi: 10.1038/gim.2018.27. Epub 2018 Mar 15.

7.

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.

O'Connor E, Vandrovcova J, Bugiardini E, Chelban V, Manole A, Davagnanam I, Wiethoff S, Pittman A, Lynch DS, Efthymiou S, Marino S, Manzur AY, Roberts M, Hanna MG, Houlden H, Matthews E, Wood NW.

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1230-1232. doi: 10.1136/jnnp-2017-317581. Epub 2018 Feb 22. No abstract available.

8.

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Lynch DS, Chelban V, Vandrovcova J, Pittman A, Wood NW, Houlden H.

Ann Clin Transl Neurol. 2018 Jan 22;5(2):216-221. doi: 10.1002/acn3.522. eCollection 2018 Feb.

9.

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.

Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H.

Mov Disord. 2018 Mar;33(3):482-488. doi: 10.1002/mds.27286. Epub 2018 Feb 2.

10.

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

Salpietro V, Efthymiou S, Manole A, Maurya B, Wiethoff S, Ashokkumar B, Cutrupi MC, Dipasquale V, Manti S, Botia JA, Ryten M, Vandrovcova J, Bello OD, Bettencourt C, Mankad K, Mukherjee A, Mutsuddi M, Houlden H.

Hum Mutat. 2018 Feb;39(2):187-192. doi: 10.1002/humu.23368. Epub 2017 Nov 27.

11.

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

Salpietro V, Zollo M, Vandrovcova J, Ryten M, Botia JA, Ferrucci V, Manole A, Efthymiou S, Al Mutairi F, Bertini E, Tartaglia M; SYNAPS Study Group, Houlden H.

Brain. 2017 Aug 1;140(8):e49. doi: 10.1093/brain/awx155. No abstract available.

12.

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H.

Am J Hum Genet. 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009.

13.

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.

Afzali B, Grönholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A, Zhang Y, Hegazy AN, Villarino AV, Palmer IW, Kaufman J, Watts NR, Kazemian M, Kamenyeva O, Keith J, Sayed A, Kasperaviciute D, Mueller M, Hughes JD, Fuss IJ, Sadiyah MF, Montgomery-Recht K, McElwee J, Restifo NP, Strober W, Linterman MA, Wingfield PT, Uhlig HH, Roychoudhuri R, Aitman TJ, Kelleher P, Lenardo MJ, O'Shea JJ, Cooper N, Laurence ADJ.

Nat Immunol. 2017 Jul;18(7):813-823. doi: 10.1038/ni.3753. Epub 2017 May 22.

14.

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.

Botía JA, Vandrovcova J, Forabosco P, Guelfi S, D'Sa K; United Kingdom Brain Expression Consortium, Hardy J, Lewis CM, Ryten M, Weale ME.

BMC Syst Biol. 2017 Apr 12;11(1):47. doi: 10.1186/s12918-017-0420-6.

15.

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM; International Parkinson’s Disease Genetics Consortium (IPGDC), Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P.

Genome Biol. 2017 Jan 30;18(1):22. doi: 10.1186/s13059-017-1147-9.

16.

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.

Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB; International FTD-Genomics Consortium (IFGC),; International Parkinson's Disease Genomics Consortium (IPDGC),; International Genomics of Alzheimer's Project (IGAP),, Momeni P, Schellenberg GD, Dillon WP, Sugrue LP, Hess CP, Yokoyama JS, Bonham LW, Rabinovici GD, Miller BL, Andreassen OA, Dale AM, Hardy J, Desikan RS.

J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):152-164. doi: 10.1136/jnnp-2016-314411. Epub 2016 Nov 29.

17.

Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences.

Manzoni C, Kia DA, Vandrovcova J, Hardy J, Wood NW, Lewis PA, Ferrari R.

Brief Bioinform. 2018 Mar 1;19(2):286-302. doi: 10.1093/bib/bbw114. Review.

18.

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA, Ferguson D, Cheshire NJ, Kazkaz H, Grahame R, Ghali N, Vandersteen A, Pope FM, Aitman TJ.

Genet Med. 2016 Nov;18(11):1119-1127. doi: 10.1038/gim.2016.14. Epub 2016 Mar 24.

PMID:
27011056
19.

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium, Byers PH, Zschocke J.

Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13.

20.

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis.

Ferrari R, Forabosco P, Vandrovcova J, Botía JA, Guelfi S, Warren JD; UK Brain Expression Consortium (UKBEC), Momeni P, Weale ME, Ryten M, Hardy J.

Mol Neurodegener. 2016 Feb 24;11:21. doi: 10.1186/s13024-016-0085-4.

21.

Corrigendum to "Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy." [Neurobiol. Aging 35 (2014) 1514.e1-1514.e12].

Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, Ramasamy A, Vandrovcova J; UK Brain Expression Consortium, Weale ME, Lees AJ, Momeni P, Hardy J, de Silva R.

Neurobiol Aging. 2015 Nov;36(11):3118. doi: 10.1016/j.neurobiolaging.2015.10.005. Epub 2015 Oct 19. No abstract available.

22.

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

Williams EL, Bagg EA, Mueller M, Vandrovcova J, Aitman TJ, Rumsby G.

Mol Genet Genomic Med. 2015 Jan;3(1):69-78. doi: 10.1002/mgg3.118.

23.

α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders.

Wilkins MR, Aldashev AA, Wharton J, Rhodes CJ, Vandrovcova J, Kasperaviciute D, Bhosle SG, Mueller M, Geschka S, Rison S, Kojonazarov B, Morrell NW, Neidhardt I, Surmeli NB, Aitman TJ, Stasch JP, Behrends S, Marletta MA.

Circ Cardiovasc Genet. 2014 Dec;7(6):920-9. doi: 10.1161/CIRCGENETICS.114.000763. Epub 2014 Nov 4. Erratum in: Circ Cardiovasc Genet. 2015 Feb;8(1):244. Surmeli, Nur Basek [corrected to Surmeli, Nur Basak]. Circ Cardiovasc Genet. 2015 Feb;8(1):244.

24.

The South Asian genome.

Chambers JC, Abbott J, Zhang W, Turro E, Scott WR, Tan ST, Afzal U, Afaq S, Loh M, Lehne B, O'Reilly P, Gaulton KJ, Pearson RD, Li X, Lavery A, Vandrovcova J, Wass MN, Miller K, Sehmi J, Oozageer L, Kooner IK, Al-Hussaini A, Mills R, Grewal J, Panoulas V, Lewin AM, Northwood K, Wander GS, Geoghegan F, Li Y, Wang J, Aitman TJ, McCarthy MI, Scott J, Butcher S, Elliott P, Kooner JS.

PLoS One. 2014 Aug 12;9(8):e102645. doi: 10.1371/journal.pone.0102645. eCollection 2014.

25.

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Norsworthy PJ, Vandrovcova J, Thomas ER, Campbell A, Kerr SM, Biggs J, Game L, Soutar AK, Smith BH, Dominiczak AF, Porteous DJ, Morris AD, Scotland G, Aitman TJ.

BMC Med Genet. 2014 Jun 23;15:70. doi: 10.1186/1471-2350-15-70.

26.

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.

Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, Ramasamy A, Vandrovcova J; UK Brain Expression Consortium, Weale ME, Lees AJ, Momeni P, Hardy J, de Silva R.

Neurobiol Aging. 2014 Jun;35(6):1514.e1-12. doi: 10.1016/j.neurobiolaging.2014.01.010. Epub 2014 Jan 13. Erratum in: Neurobiol Aging. 2015 Nov;36(11):3118. Nicolaou, Naiya [Corrected to Nicolaou, Nayia]. Neurobiol Aging. 2015 Nov;36(11):3118.

27.

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Thomas ER, Atanur SS, Norsworthy PJ, Encheva V, Snijders AP, Game L, Vandrovcova J, Siddiq A, Seed M, Soutar AK, Aitman TJ.

Mol Genet Genomic Med. 2013 Sep;1(3):155-61. doi: 10.1002/mgg3.17. Epub 2013 Jun 13.

28.

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.

Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J; International Parkinson Disease Genomics Consortium (IPDGC), Hernandez D, Nalls MA, Sharma M, Garnier S, Lesage S, Simon-Sanchez J, Gasser T, Heutink P, Brice A, Singleton A, Cai H, Schadt E, Wood NW, Bandopadhyay R, Weale ME, Hardy J, Plagnol V.

PLoS One. 2013 Aug 13;8(8):e70724. doi: 10.1371/journal.pone.0070724. eCollection 2013.

29.

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Vandrovcova J, Thomas ER, Atanur SS, Norsworthy PJ, Neuwirth C, Tan Y, Kasperaviciute D, Biggs J, Game L, Mueller M, Soutar AK, Aitman TJ.

Genet Med. 2013 Dec;15(12):948-57. doi: 10.1038/gim.2013.55. Epub 2013 May 16.

PMID:
23680767
30.

Variation in tau isoform expression in different brain regions and disease states.

Majounie E, Cross W, Newsway V, Dillman A, Vandrovcova J, Morris CM, Nalls MA, Ferrucci L, Owen MJ, O'Donovan MC, Cookson MR, Singleton AB, de Silva R, Morris HR.

Neurobiol Aging. 2013 Jul;34(7):1922.e7-1922.e12. doi: 10.1016/j.neurobiolaging.2013.01.017. Epub 2013 Feb 19.

31.

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.

Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, Weale ME, Hardy J, Ryten M.

Hum Mol Genet. 2012 Sep 15;21(18):4094-103. doi: 10.1093/hmg/dds238. Epub 2012 Jun 20.

32.

Ensembl 2012.

Flicek P, Amode MR, Barrell D, Beal K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fairley S, Fitzgerald S, Gil L, Gordon L, Hendrix M, Hourlier T, Johnson N, Kähäri AK, Keefe D, Keenan S, Kinsella R, Komorowska M, Koscielny G, Kulesha E, Larsson P, Longden I, McLaren W, Muffato M, Overduin B, Pignatelli M, Pritchard B, Riat HS, Ritchie GR, Ruffier M, Schuster M, Sobral D, Tang YA, Taylor K, Trevanion S, Vandrovcova J, White S, Wilson M, Wilder SP, Aken BL, Birney E, Cunningham F, Dunham I, Durbin R, Fernández-Suarez XM, Harrow J, Herrero J, Hubbard TJ, Parker A, Proctor G, Spudich G, Vogel J, Yates A, Zadissa A, Searle SM.

Nucleic Acids Res. 2012 Jan;40(Database issue):D84-90. doi: 10.1093/nar/gkr991. Epub 2011 Nov 15.

33.

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group, Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD.

Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859.

34.

Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?

Compta Y, Parkkinen L, O'Sullivan SS, Vandrovcova J, Holton JL, Collins C, Lashley T, Kallis C, Williams DR, de Silva R, Lees AJ, Revesz T.

Brain. 2011 May;134(Pt 5):1493-1505. doi: 10.1093/brain/awr031.

35.

Ensembl 2011.

Flicek P, Amode MR, Barrell D, Beal K, Brent S, Chen Y, Clapham P, Coates G, Fairley S, Fitzgerald S, Gordon L, Hendrix M, Hourlier T, Johnson N, Kähäri A, Keefe D, Keenan S, Kinsella R, Kokocinski F, Kulesha E, Larsson P, Longden I, McLaren W, Overduin B, Pritchard B, Riat HS, Rios D, Ritchie GR, Ruffier M, Schuster M, Sobral D, Spudich G, Tang YA, Trevanion S, Vandrovcova J, Vilella AJ, White S, Wilder SP, Zadissa A, Zamora J, Aken BL, Birney E, Cunningham F, Dunham I, Durbin R, Fernández-Suarez XM, Herrero J, Hubbard TJ, Parker A, Proctor G, Vogel J, Searle SM.

Nucleic Acids Res. 2011 Jan;39(Database issue):D800-6. doi: 10.1093/nar/gkq1064. Epub 2010 Nov 2.

36.

Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome.

Rohrer JD, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.

Neurodegener Dis. 2011;8(3):149-52. doi: 10.1159/000319454. Epub 2010 Sep 14.

37.

Disentangling the role of the tau gene locus in sporadic tauopathies.

Vandrovcova J, Anaya F, Kay V, Lees A, Hardy J, de Silva R.

Curr Alzheimer Res. 2010 Dec;7(8):726-34. Review.

PMID:
20704554
38.

The heritability and genetics of frontotemporal lobar degeneration.

Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IR, Warren JD, de Silva R, Holton J, Revesz T, Hardy J, Mead S, Rossor MN.

Neurology. 2009 Nov 3;73(18):1451-6. doi: 10.1212/WNL.0b013e3181bf997a.

39.

Differential DJ-1 gene expression in Parkinson's disease.

Kumaran R, Vandrovcova J, Luk C, Sharma S, Renton A, Wood NW, Hardy JA, Lees AJ, Bandopadhyay R.

Neurobiol Dis. 2009 Nov;36(2):393-400. doi: 10.1016/j.nbd.2009.08.011. Epub 2009 Aug 28.

PMID:
19716892
40.

TGFBR1 variants TGFBR1(*)6A and Int7G24A are not associated with an increased familial colorectal cancer risk.

Skoglund Lundin J, Vandrovcova J, Song B, Zhou X, Zelada-Hedman M, Werelius B, Houlston RS, Lindblom A.

Br J Cancer. 2009 May 19;100(10):1674-9. doi: 10.1038/sj.bjc.6605054. Epub 2009 Apr 28.

41.

Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q.

Picelli S, Vandrovcova J, Jones S, Djureinovic T, Skoglund J, Zhou XL, Velculescu VE, Vogelstein B, Lindblom A.

BMC Cancer. 2008 Apr 1;8:87. doi: 10.1186/1471-2407-8-87.

42.

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease.

Vandrovcova J, Pittman AM, Malzer E, Abou-Sleiman PM, Lees AJ, Wood NW, de Silva R.

Neurobiol Aging. 2009 Sep;30(9):1477-82. Epub 2007 Dec 26.

PMID:
18162161
43.

Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation.

Momeni P, Pittman A, Lashley T, Vandrovcova J, Malzer E, Luk C, Hulette C, Lees A, Revesz T, Hardy J, de Silva R.

Neurobiol Aging. 2009 Mar;30(3):388-93. Epub 2007 Aug 27.

44.

Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomäki P, Kolodner RD, Nilbert M, Lindblom A.

J Natl Cancer Inst. 2007 Feb 21;99(4):291-9.

PMID:
17312306
45.

Somatic BRAF-V600E mutations in familial colorectal cancer.

Vandrovcova J, Lagerstedt-Robinsson K, Påhlman L, Lindblom A.

Cancer Epidemiol Biomarkers Prev. 2006 Nov;15(11):2270-3.

46.

[Hereditary forms of colorectal adenomatous polyposis].

Kohoutová M, Stekrová J, Sulová M, Zidková K, Kleibl Z, Vandrovcová J, Kebrdlová V, Kotlas J, Jirásek V.

Cas Lek Cesk. 2006;145(6):475-9. Czech.

PMID:
16836001
47.

Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1.

Skoglund J, Djureinovic T, Zhou XL, Vandrovcova J, Renkonen E, Iselius L, Bisgaard ML, Peltomäki P, Lindblom A.

J Med Genet. 2006 Feb;43(2):e7.

48.

A genome wide linkage analysis in Swedish families with hereditary non-familial adenomatous polyposis/non-hereditary non-polyposis colorectal cancer.

Djureinovic T, Skoglund J, Vandrovcova J, Zhou XL, Kalushkova A, Iselius L, Lindblom A.

Gut. 2006 Mar;55(3):362-6. Epub 2005 Sep 8.

49.

Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

Vandrovcová J, Stekrová J, Kebrdlová V, Kohoutová M.

Hum Mutat. 2004 Apr;23(4):397.

PMID:
15024739

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