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Results: 1 to 20 of 126

1.

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, Gabrikova D, Karcagi V, Guergueltcheva V, Geneva IE, Bozhinova V, Stoyanova VK, Kremensky I, Jordanova A, Savov A, Horvath R, Brown MA, Tournev I, Filipovska A, Kalaydjieva L.

Mol Genet Metab. 2014 Jul 21. pii: S1096-7192(14)00221-2. doi: 10.1016/j.ymgme.2014.07.017. [Epub ahead of print]

PMID:
25087164
[PubMed - as supplied by publisher]
Free Article
2.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R.

Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287.

PMID:
24989451
[PubMed - in process]
Free PMC Article
3.

Functionally distinct PI 3-kinase pathways regulate myelination in the peripheral nervous system.

Heller BA, Ghidinelli M, Voelkl J, Einheber S, Smith R, Grund E, Morahan G, Chandler D, Kalaydjieva L, Giancotti F, King RH, Fejes-Toth AN, Fejes-Toth G, Feltri ML, Lang F, Salzer JL.

J Cell Biol. 2014 Mar 31;204(7):1219-36. doi: 10.1083/jcb.201307057.

PMID:
24687281
[PubMed - indexed for MEDLINE]
4.

Challenges of diagnostic exome sequencing in an inbred founder population.

Azmanov DN, Chamova T, Tankard R, Gelev V, Bynevelt M, Florez L, Tzoneva D, Zlatareva D, Guergueltcheva V, Bahlo M, Tournev I, Kalaydjieva L.

Mol Genet Genomic Med. 2013 Jul;1(2):71-6. doi: 10.1002/mgg3.7. Epub 2013 Apr 22.

PMID:
24498604
[PubMed]
Free PMC Article
5.

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C.

Am J Hum Genet. 2014 Feb 6;94(2):288-94. doi: 10.1016/j.ajhg.2013.12.017. Epub 2014 Jan 16. Erratum in: Am J Hum Genet. 2014 May 1;94(5):799.

PMID:
24439109
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kähler AK, Akterin S, Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH, Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, Xia K, Bettella F, Borglum AD, Bulik-Sullivan BK, Cormican P, Craddock N, de Leeuw C, Durmishi N, Gill M, Golimbet V, Hamshere ML, Holmans P, Hougaard DM, Kendler KS, Lin K, Morris DW, Mors O, Mortensen PB, Neale BM, O'Neill FA, Owen MJ, Milovancevic MP, Posthuma D, Powell J, Richards AL, Riley BP, Ruderfer D, Rujescu D, Sigurdsson E, Silagadze T, Smit AB, Stefansson H, Steinberg S, Suvisaari J, Tosato S, Verhage M, Walters JT; Multicenter Genetic Studies of Schizophrenia Consortium, Levinson DF, Gejman PV, Kendler KS, Laurent C, Mowry BJ, O'Donovan MC, Owen MJ, Pulver AE, Riley BP, Schwab SG, Wildenauer DB, Dudbridge F, Holmans P, Shi J, Albus M, Alexander M, Campion D, Cohen D, Dikeos D, Duan J, Eichhammer P, Godard S, Hansen M, Lerer FB, Liang KY, Maier W, Mallet J, Nertney DA, Nestadt G, Norton N, O'Neill FA, Papadimitriou GN, Ribble R, Sanders AR, Silverman JM, Walsh D, Williams NM, Wormley B; Psychosis Endophenotypes International Consortium, Arranz MJ, Bakker S, Bender S, Bramon E, Collier D, Crespo-Facorro B, Hall J, Iyegbe C, Jablensky A, Kahn RS, Kalaydjieva L, Lawrie S, Lewis CM, Lin K, Linszen DH, Mata I, McIntosh A, Murray RM, Ophoff RA, Powell J, Rujescu D, Van Os J, Walshe M, Weisbrod M, Wiersma D; Wellcome Trust Case Control Consortium 2, Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin AP, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Spencer CC, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson RD, Strange A, Su Z, Vukcevic D, Donnelly P, Langford C, Hunt SE, Edkins S, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Tashakkori-Ghanbaria A, Waller MJ, Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P, Mathew CG, Blackwell JM, Brown MA, Corvin AP, McCarthy MI, Spencer CC, Bramon E, Corvin AP, O'Donovan MC, Stefansson K, Scolnick E, Purcell S, McCarroll SA, Sklar P, Hultman CM, Sullivan PF.

Nat Genet. 2013 Oct;45(10):1150-9. doi: 10.1038/ng.2742. Epub 2013 Aug 25.

PMID:
23974872
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation.

Psychosis Endophenotypes International Consortium; Wellcome Trust Case-Control Consortium 2, Bramon E, Pirinen M, Strange A, Lin K, Freeman C, Bellenguez C, Su Z, Band G, Pearson R, Vukcevic D, Langford C, Deloukas P, Hunt S, Gray E, Dronov S, Potter SC, Tashakkori-Ghanbaria A, Edkins S, Bumpstead SJ, Arranz MJ, Bakker S, Bender S, Bruggeman R, Cahn W, Chandler D, Collier DA, Crespo-Facorro B, Dazzan P, de Haan L, Di Forti M, Dragović M, Giegling I, Hall J, Iyegbe C, Jablensky A, Kahn RS, Kalaydjieva L, Kravariti E, Lawrie S, Linszen DH, Mata I, McDonald C, McIntosh A, Myin-Germeys I, Ophoff RA, Pariante CM, Paunio T, Picchioni M; Psychiatric Genomics Consortium, Ripke S, Rujescu D, Sauer H, Shaikh M, Sussmann J, Suvisaari J, Tosato S, Toulopoulou T, Van Os J, Walshe M, Weisbrod M, Whalley H, Wiersma D, Blackwell JM, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski JA, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Wood NW, Barroso I, Peltonen L, Lewis CM, Murray RM, Donnelly P, Powell J, Spencer CC.

Biol Psychiatry. 2014 Mar 1;75(5):386-97. doi: 10.1016/j.biopsych.2013.03.033. Epub 2013 Jul 17.

PMID:
23871474
[PubMed - in process]
Free PMC Article
8.

The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D.

Chandler D, Lopaticki S, Huang D, Hunter M, Angelicheva D, Kilpatrick T, King RH, Kalaydjieva L, Morahan G.

F1000Res. 2013 Feb 13;2:46. doi: 10.12688/f1000research.2-46.v1. eCollection 2013.

PMID:
24715951
[PubMed]
Free PMC Article
9.

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L.

Am J Hum Genet. 2012 Sep 7;91(3):553-64. doi: 10.1016/j.ajhg.2012.07.019. Epub 2012 Aug 16.

PMID:
22901947
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Y-chromosome analysis in individuals bearing the Basarab name of the first dynasty of Wallachian kings.

Martinez-Cruz B, Ioana M, Calafell F, Arauna LR, Sanz P, Ionescu R, Boengiu S, Kalaydjieva L, Pamjav H, Makukh H, Plantinga T, van der Meer JW, Comas D, Netea MG; Genographic Consortium.

PLoS One. 2012;7(7):e41803. Epub 2012 Jul 25.

PMID:
22848614
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Deleterious GRM1 mutations in schizophrenia.

Ayoub MA, Angelicheva D, Vile D, Chandler D, Morar B, Cavanaugh JA, Visscher PM, Jablensky A, Pfleger KD, Kalaydjieva L.

PLoS One. 2012;7(3):e32849. doi: 10.1371/journal.pone.0032849. Epub 2012 Mar 20.

PMID:
22448230
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia.

Verbrugghe P, Bouwer S, Wiltshire S, Carter K, Chandler D, Cooper M, Morar B, Razif MF, Henders A, Badcock JC, Dragovic M, Carr V, Almeida OP, Flicker L, Montgomery G, Jablensky A, Kalaydjieva L.

Am J Med Genet B Neuropsychiatr Genet. 2012 Jun;159B(4):392-404. doi: 10.1002/ajmg.b.32042. Epub 2012 Mar 14.

PMID:
22419519
[PubMed - indexed for MEDLINE]
13.

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.

Chamova T, Florez L, Guergueltcheva V, Raycheva M, Kaneva R, Lochmüller H, Kalaydjieva L, Tournev I.

J Neurol. 2012 May;259(5):906-11. doi: 10.1007/s00415-011-6276-6. Epub 2011 Oct 19.

PMID:
22008874
[PubMed - indexed for MEDLINE]
14.

Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia.

Jablensky A, Angelicheva D, Donohoe GJ, Cruickshank M, Azmanov DN, Morris DW, McRae A, Weickert CS, Carter KW, Chandler D, Alexandrov B, Usheva A, Morar B, Verbrugghe PL, Filipovska A, Rackham O, Bishop AR, Rasmussen KØ, Dragovic M, Cooper M, Phillips M, Badcock J, Bramon-Bosch E, Almeida OP, Flicker L, Gill M, Corvin A, MacGregor S, Kalaydjieva L.

Mol Psychiatry. 2012 Dec;17(12):1328-39. doi: 10.1038/mp.2011.129. Epub 2011 Oct 4.

PMID:
21968932
[PubMed - indexed for MEDLINE]
15.

A novel GEFS+ locus on 12p13.33 in a large Roma family.

Morar B, Zhelyazkova S, Azmanov DN, Radionova M, Angelicheva D, Guergueltcheva V, Kaneva R, Scheffer IE, Tournev I, Kalaydjieva L, Sander JW.

Epilepsy Res. 2011 Nov;97(1-2):198-207. doi: 10.1016/j.eplepsyres.2011.08.009. Epub 2011 Sep 13.

PMID:
21917424
[PubMed - indexed for MEDLINE]
16.

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE.

Eur J Hum Genet. 2011 Dec;19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29.

PMID:
21712857
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3.

Azmanov DN, Zhelyazkova S, Radionova M, Morar B, Angelicheva D, Zlatareva D, Kaneva R, Tournev I, Kalaydjieva L, Sander JW.

Epilepsy Res. 2011 Sep;96(1-2):101-8. doi: 10.1016/j.eplepsyres.2011.05.006. Epub 2011 Jun 8.

PMID:
21645995
[PubMed - indexed for MEDLINE]
18.

RefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization.

Hruz T, Wyss M, Docquier M, Pfaffl MW, Masanetz S, Borghi L, Verbrugghe P, Kalaydjieva L, Bleuler S, Laule O, Descombes P, Gruissem W, Zimmermann P.

BMC Genomics. 2011 Mar 21;12:156. doi: 10.1186/1471-2164-12-156.

PMID:
21418615
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Ndrg1 in development and maintenance of the myelin sheath.

King RH, Chandler D, Lopaticki S, Huang D, Blake J, Muddle JR, Kilpatrick T, Nourallah M, Miyata T, Okuda T, Carter KW, Hunter M, Angelicheva D, Morahan G, Kalaydjieva L.

Neurobiol Dis. 2011 Jun;42(3):368-80. doi: 10.1016/j.nbd.2011.01.030. Epub 2011 Feb 12.

PMID:
21303696
[PubMed - indexed for MEDLINE]
20.

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

Fullston T, Gabb B, Callen D, Ullmann R, Woollatt E, Bain S, Ropers HH, Cooper M, Chandler D, Carter K, Jablensky A, Kalaydjieva L, Gecz J.

Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):204-14. doi: 10.1002/ajmg.b.31157. Epub 2011 Jan 13.

PMID:
21302349
[PubMed - indexed for MEDLINE]

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