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Showing 1 to 10 of 10 entries
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Genetic studies of the Roma (Gypsies): a review.

BMC medical genetics

Kalaydjieva L, Gresham D, Calafell F.
PMID: 11299048
BMC Med Genet. 2001;2:5. doi: 10.1186/1471-2350-2-5. Epub 2001 Apr 02.

BACKGROUND: Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the...

Challenges of diagnostic exome sequencing in an inbred founder population.

Molecular genetics & genomic medicine

Azmanov DN, Chamova T, Tankard R, Gelev V, Bynevelt M, Florez L, Tzoneva D, Zlatareva D, Guergueltcheva V, Bahlo M, Tournev I, Kalaydjieva L.
PMID: 24498604
Mol Genet Genomic Med. 2013 Jul;1(2):71-6. doi: 10.1002/mgg3.7. Epub 2013 Apr 22.

Exome sequencing was used as a diagnostic tool in a Roma/Gypsy family with three subjects (one deceased) affected by lissencephaly with cerebellar hypoplasia (LCH), a clinically and genetically heterogeneous diagnostic category. Data analysis identified high levels of unreported inbreeding,...

The AQP1 del601G mutation in different European Romani (Gypsy) populations.

Blood transfusion = Trasfusione del sangue

Flesch BK, Morar B, Comas D, Muñiz-Diaz E, Nogués N, Kalaydjieva L.
PMID: 27177406
Blood Transfus. 2016 Nov;14(6):580-581. doi: 10.2450/2016.0274-15. Epub 2016 May 11.

No abstract available.

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in russian charcot-marie-tooth neuropathy patients; irina V. Mersiyanova, sookhrat M. Ismailov, alexandr V. Polyakov, elena L. Dadali, valeriy P. Fedotov, eva nelis, ann Lofgren, vincent timmerman, christine van broeckhoven, and oleg V. Evgrafov (Article was originally published in human mutation 15:340-347, 2000).

Human mutation

Bogdanova N, McCluskey M, Sikmann K, Markoff A, Todorov V, Dimitrakov D, Schiavello T, Thomas M, Kalaydjieva L, Dworniczak B, Horst J.
PMID: 10923039
Hum Mutat. 2000;16(2):175. doi: 10.1002/1098-1004(200008)16:2<175::AID-HUMU10>3.0.CO;2-N.

The authors wish to correct a mistake which occurred in the reporting of one of the mutations. The mutation in Cx32 Met34Lys is wrongly described as 100A>G. The correct description of the mutation should be 101T>A (Met34Lys).

08-05 'Kraepelinian' and 'Bleulerian' schizophrenia: a genetic dissection of a cognitive endophenotype.

Acta neuropsychiatrica

Jablensky A, Hallmayer J, Dragovic M, Badcock J, Kalaydjieva L.
PMID: 27397392
Acta Neuropsychiatr. 2006 Dec;18(6):332-3. doi: 10.1017/S0924270800032336.

No abstract available.

Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study.

Molecular psychiatry

Thygesen JH, Presman A, Harju-Seppänen J, Irizar H, Jones R, Kuchenbaecker K, Lin K, Alizadeh BZ, Austin-Zimmerman I, Bartels-Velthuis A, Bhat A, Bruggeman R, Cahn W, Calafato S, Crespo-Facorro B, de Haan L, de Zwarte SMC, Di Forti M, Díez-Revuelta Á, Hall J, Hall MH, Iyegbe C, Jablensky A, Kahn R, Kalaydjieva L, Kravariti E, Lawrie S, Luykx JJ, Mata I, McDonald C, McIntosh AM, McQuillin A, Muir R, Ophoff R, Picchioni M, Prata DP, Ranlund S, Rujescu D, Rutten BPF, Schulze K, Shaikh M, Schirmbeck F, Simons CJP, Toulopoulou T, van Amelsvoort T, van Haren N, van Os J, van Winkel R, Vassos E, Walshe M, Weisbrod M, Zartaloudi E, Bell V, Powell J, Lewis CM, Murray RM, Bramon E.
PMID: 32719466
Mol Psychiatry. 2021 Sep;26(9):5307-5319. doi: 10.1038/s41380-020-0820-7. Epub 2020 Jul 27.

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and...

Correction to: Origins, admixture and founder lineages in European Roma.

European journal of human genetics : EJHG

Martínez-Cruz B, Mendizabal I, Harmant C, de Pablo R, Ioana M, Angelicheva D, Kouvatsi A, Makukh H, Netea MG, Pamjav H, Zalán A, Tournev I, Marushiakova E, Popov V, Bertranpetit J, Kalaydjieva L, Quintana-Murci L, Comas D.
PMID: 34952928
Eur J Hum Genet. 2021 Dec 24; doi: 10.1038/s41431-021-01020-7. Epub 2021 Dec 24.

No abstract available.

Correction to: Origins, admixture and founder lineages in European Roma.

European journal of human genetics : EJHG

Martínez-Cruz B, Mendizabal I, Harmant C, de Pablo R, Ioana M, Angelicheva D, Kouvatsi A, Makukh H, Netea MG, Pamjav H, Zalán A, Tournev I, Marushiakova E, Popov V, Bertranpetit J, Kalaydjieva L, Quintana-Murci L, Comas D.
PMID: 34952928
Eur J Hum Genet. 2021 Dec 24; doi: 10.1038/s41431-021-01020-7. Epub 2021 Dec 24.

No abstract available.

Electrothermal atomic-absorption determination of Ti in polypropylene in the presence of Al and Mg.

Fresenius' journal of analytical chemistry

Kalaydjieva IG.
PMID: 11688657
Fresenius J Anal Chem. 2001 Oct;371(3):394-5. doi: 10.1007/s002160101008.

A method is proposed for the determination of low concentrations of Ti (< 2 microg g(-1)) in polypropylene in presence of Al and Mg by ETAAS after elimination of the polymer matrix and Si. The optimum instrumental conditions for...

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

F1000Research

Chandler D, Lopaticki S, Huang D, Hunter M, Angelicheva D, Kilpatrick T, King RH, Kalaydjieva L, Morahan G.
PMID: 24715951
F1000Res. 2013 Feb 13;2:46. doi: 10.12688/f1000research.2-46.v1. eCollection 2013.

Mice affected by a spontaneous mutation which arose within our colony exhibited a neuromuscular phenotype involving tremor and characteristic stretching of the rear limbs. The mutant, named stretcher, was used to breed a backcross cohort for genetic mapping studies....

Showing 1 to 10 of 10 entries