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1

A Genomic Screen of Autism: Evidence for a Multilocus Etiology

Neil Risch, Donna Spiker, Linda Lotspeich, Nassim Nouri, David Hinds, Joachim Hallmayer, Luba Kalaydjieva, Patty McCague, Sue Dimiceli, Tawna Pitts, Loan Nguyen, Joan Yang, Courtney Harper, Danielle T

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 577 KB

english, 1999

2

Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism

Salmon, Boyd, Hallmayer, Joachim, Rogers, Tamara, Kalaydjieva, Luba, Petersen, P. Brent, Nicholas, Peter, Pingree, Carmen, McMahon, William, Spiker, Donna, Lotspeich, Linda, Kraemer, Helena, McCague,

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 79 KB

english, 1999

3

Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages

Kalaydjieva, Luba, Calafell, Francesc, Jobling, Mark A, Angelicheva, Dora, de Knijff, Peter, Rosser, Zoë H, Hurles, Matthew E, Underhill, Peter, Tournev, Ivailo, Marushiakova, Elena

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 236 KB

english, 2001

4

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

Dimitar N. Azmanov, Sashka Zhelyazkova, Melania Radionova, Bharti Morar, Dora Angelicheva, Dora Zlatareva, Radka Kaneva, Ivailo Tournev, Luba Kalaydjieva, Josemir W. Sander

Journal:

Epilepsy Research

Year:

2011

Language:

english

File:

PDF, 515 KB

english, 2011

5

Congenital Cataracts – Facial Dysmorphism – Neuropathy

Luba Kalaydjieva

Journal:

Orphanet Journal of Rare Diseases

Year:

2006

Language:

english

File:

PDF, 182 KB

english, 2006

6

SSCP analysis: A blind sensitivity trial

Albena Jordanova, Luba Kalaydjieva, Alexey Savov, Mireille Claustres, Martin Schwarz, Xavier Estivill, Dora Angelicheva, Andrea Haworth, Teresa Casals, Ivo Kremensky

Journal:

Year:

1997

Language:

english

File:

PDF, 118 KB

english, 1997

7

Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations

Nadja Bogdanova, Marie McCluskey, Karin Sikmann, Arseni Markoff, Vassil Todorov, Dimitar Dimitrakov, Tina Schiavello, Mark Thomas, Luba Kalaydjieva, Bernd Dworniczak, Jürgen Horst

Journal:

Year:

2000

Language:

english

File:

PDF, 282 KB

english, 2000

8

Novel mutations in the GALK1 gene in patients with galactokinase deficiency

Michael Hunter, Dora Angelicheva, Harvey L. Levy, Sigfried M. Pueschel, Luba Kalaydjieva

Journal:

Year:

2001

Language:

english

File:

PDF, 29 KB

english, 2001

9

Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations

Ivailo Tournev, Luba Kalaydjieva, Bryan Youl, Boryana Ishpekova, Velina Guergueltcheva, Ognian Kamenov, Maria Katzarova, Zdravko Kamenov, Margarita Raicheva-Terzieva, R. H. M. King, Kiril Romanski, Ra

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 468 KB

english, 1999

10

Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred

Dusan Butinar, Janez Zidar, Lea Leonardis, Mara Popovic, Luba Kalaydjieva, Dora Angelicheva, Yvonne Sininger, Bronya Keats, Arnold Starr

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 2.46 MB

english, 1999

11

Comprehensive analysis of tagging sequence variants in DTNBP1 shows no association with schizophrenia or with its composite neurocognitive endophenotypes

Kirsten Peters, Steven Wiltshire, Anjali K. Henders, Milan Dragović, Johanna C. Badcock, David Chandler, Sarah Howell, Chris Ellis, Sonja Bouwer, Grant W. Montgomery, Lyle J. Palmer, Luba Kalaydjieva,

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2008

Language:

english

File:

PDF, 267 KB

english, 2008

12

Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia

David Chandler, Milan Dragović, Matthew Cooper, Johanna C. Badcock, Benjamin H. Mullin, Deb Faulkner, Scott G. Wilson, Joachim Hallmayer, Sarah Howell, Daniel Rock, Lyle J. Palmer, Luba Kalaydjieva, A

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2010

Language:

english

File:

PDF, 237 KB

english, 2010

13

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

Tod Fullston, Bronte Gabb, David Callen, Reinhard Ullmann, Erica Woollatt, Sharon Bain, Hilger H. Ropers, Matt Cooper, David Chandler, Kim Carter, Assen Jablensky, Luba Kalaydjieva, Jozef Gecz

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2011

Language:

english

File:

PDF, 687 KB

english, 2011

14

Hereditary motor and sensory neuropathy-russe: New autosomal recessive neuropathy in balkan gypsies

P. K. Thomas, Luba Kalaydjieva, Brian Youl, Tamara Rogers, Dora Angelicheva, Rosalind H. M. King, Velina Guergueltcheva, Jaume Colomer, Constantin Lupu, Axinia Corches, Gabriela Popa, Luciano Merlini,

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 2.91 MB

english, 2001

15

A newly discovered founder population: the Roma/Gypsies

Luba Kalaydjieva, Bharti Morar, Raphaelle Chaix, Hua Tang

Journal:

Year:

2005

Language:

english

File:

PDF, 305 KB

english, 2005

16

Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families

Marie McCluskey, Tina Schiavello, Michael Hunter, Janina Hantke, Dora Angelicheva, Nadja Bogdanova, Arseni Markoff, Mark Thomas, Bernd Dworniczak, Juergen Horst, Luba Kalaydjieva

Journal:

Year:

2002

Language:

english

File:

PDF, 424 KB

english, 2002

17

Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?

Bernd Dworniczak, Luba Kalaydjieva, Sabine Pankoke, Christa Aulehla-Scholz, Gregory Allen, Jürgen Horst

Journal:

Year:

1992

Language:

english

File:

PDF, 839 KB

english, 1992

18

Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom

King, Tournev, Colomer, Merlini, Kalaydjieva, Thomas

Journal:

Neuropathology and Applied Neurobiology

Year:

1999

Language:

english

File:

PDF, 502 KB

english, 1999

19

SMOKING AND RENAL FAILURE IN POLYCYSTIC KIDNEY DISEASE (ADPKD)

Schiavello T, Burke V, Jasik P, Melsom S, Sulowicz W, Krasniak A, Stompor T, Kalaydjieva L, Thomas M, Lim W

Journal:

Year:

2002

Language:

english

File:

PDF, 381 KB

english, 2002

20

N-MYC Downstream-Regulated Gene 1 Is Mutated In Hereditary Motor And Sensory Neuropathy-LOM

L Kalaydjieva, D Gresham, R Gooding, L Heather, F Baas, R De Jonge, K Blechschmidt, D Angelicheva, D Chandler, P Worsley, A Rosenthal, RHM King, Pk Thomas

Journal:

Journal of the Peripheral Nervous System

Year:

2001

Language:

english

File:

PDF, 71 KB

english, 2001

21

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

Tomas Hruz, Markus Wyss, Mylene Docquier, Michael W Pfaffl, Sabine Masanetz, Lorenzo Borghi, Phebe Verbrugghe, Luba Kalaydjieva, Stefan Bleuler, Oliver Laule, Patrick Descombes, Wilhelm Gruissem, Phil

Journal:

Year:

2011

Language:

english

File:

PDF, 2.03 MB

english, 2011

22

Genetic studies of the Roma (Gypsies): a review

Luba Kalaydjieva, David Gresham, Francesc Calafell

Journal:

BMC Medical Genetics

Year:

2001

Language:

english

File:

PDF, 1.12 MB

english, 2001

23

A standard protocol for single nucleotide primer extension in the human genome using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

Cheryl A. Wise, Maxime Paris, Bharti Morar, Wei Wang, Luba Kalaydjieva, Alan H. Bittles

Journal:

Rapid Communications in Mass Spectrometry

Year:

2003

Language:

english

File:

PDF, 136 KB

english, 2003

24

A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1

A. Eigel, B. Dworniczak, L. Kalaydjieva, J. Horst

Journal:

Year:

1991

Language:

english

File:

PDF, 291 KB

english, 1991

25

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene

B. Dworniczak, L. Kalaydjieva, C. Aulehla-Scholz, K. Ullrich, I. Kremensky, B. Radeva, J. Horst

Journal:

Year:

1991

Language:

english

File:

PDF, 379 KB

english, 1991

26

Geographical distribution gradients of the major PKU mutations and the linked haplotypes

L. Kalaydjieva, B. Dworniczak, V. Kucinskas, V. Yurgeliavicius, E. Kunert, J. Horst

Journal:

Year:

1991

Language:

english

File:

PDF, 228 KB

english, 1991

27

Genetic heterogeneity of polycystic kidney disease in Bulgaria

N. Bogdanova, B. Dworniczak, D. Dragova, V. Todorov, D. Dimitrakov, K. Kalinov, J. Hallmayer, J. Horst, L. Kalaydjieva

Journal:

Year:

1995

Language:

english

File:

PDF, 558 KB

english, 1995

28

Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD families

Juliana Bronzova, Albena Todorova, Luba Kalaydjieva

Journal:

Year:

1994

Language:

english

File:

PDF, 721 KB

english, 1994

29

Subcellular distribution of lysosomal hydrolases in mucolipidosis III and a mucolipidosis III variant

L. Kalaydjieva, M. Cantz

Journal:

Journal of Inherited Metabolic Disease

Year:

1981

Language:

english

File:

PDF, 107 KB

english, 1981

30

Molecular data on cystic fibrosis in Bulgaria

Luborodna Kalaydjieva, Jordan Antov, Juliana Bronzova, Violeta Vladimirova, Jürgen Horst

Journal:

Year:

1990

Language:

english

File:

PDF, 249 KB

english, 1990

31

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

Irina G. Kalaydjieva

Journal:

Analytical and Bioanalytical Chemistry

Year:

2001

Language:

english

File:

PDF, 21 KB

english, 2001

32

Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome

I. Tournev, R. H. M. King, J. Workman, M. Nourallah, J. R. Muddle, L. Kalaydjieva, K. Romanski, P. K. Thomas

Journal:

Acta Neuropathologica

Year:

1999

Language:

english

File:

PDF, 365 KB

english, 1999

33

Severe neuropsychiatric symptoms in two siblings with intermediate type of Niemann-Pick disease

V. Mihaylova, J. Hantke, S. Cherninkova, S. Krastev, M. Radionova, M. Raicheva, I. Sinigerska, H. Jelev, A. Jablensky, L. Kalaydjieva, I. Tournev

Journal:

Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 131 KB

english, 2008

34

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis

Sotiria D. Mastroyianni, Anastasia Garoufi, Konstantinos Voudris, Angeliki Skardoutsou, Constantinos J. Stefanidis, Efstathia Katsarou, Rebecca Gooding, Luba Kalaydjieva

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 70 KB

english, 2007

35

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies

P Sivadorai, S Cherninkova, S Bouwer, K Kamenarova, D Angelicheva, P Seeman, K Hollingsworth, V Mihaylova, A Oscar, G Dimitrova, R Kaneva, I Tournev, L Kalaydjieva

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 119 KB

english, 2008

36

Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia

A. Jablensky, B. Morar, S. Wiltshire, K. Carter, M. Dragovic, J. C. Badcock, D. Chandler, K. Peters, L. Kalaydjieva

Journal:

Genes, Brain and Behavior

Year:

2011

Language:

english

File:

PDF, 543 KB

english, 2011

37

Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition

Morar, B, Dragović, M, Waters, F A V, Chandler, D, Kalaydjieva, L, Jablensky, A

Journal:

Molecular Psychiatry

Year:

2010

Language:

english

File:

PDF, 315 KB

english, 2010

38

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Morral, N., Bertranpetit, J., Estivill, X., Nunes, V., Casals, T., Giménez, J., Reis, A., Varon-Mateeva, R., Macek, M., Kalaydjieva, L.

Journal:

Nature Genetics

Year:

1994

File:

PDF, 675 KB

1994

39

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

Kalaydjieva, Luba, Hallmayer, Joachim, Chandler, David, Savov, Alexey, Nikolova, Amelia, Angelicheva, Dora, King, Rosalind H. H., Ishpekova, Boryana, Honeyman, K., Calafell, Francesc

Journal:

Nature Genetics

Year:

1996

File:

PDF, 595 KB

1996

40

Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX

May, Celia A., Shone, Angela C., Kalaydjieva, Luba, Sajantila, Antti, Jeffreys, Alec J.

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 243 KB

english, 2002

41

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter

Angelicheva, Dora, Turnev, Ivailo, Dye, Danielle, Chandler, David, Thomas, P K, Kalaydjieva, Luba

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 376 KB

english, 1999

42

Vlax Roma history: what do coalescent-based methods tell us?

Chaix, R, Austerlitz, F, Morar, B, Kalaydjieva, L, Heyer, E

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 140 KB

english, 2004

43

Exclusion of Linkage to the HLA Region in Ninety Multiplex Sibships with Autism

Tamara Rogers, Luba Kalaydjieva, Joachim Hallmayer, P. Brent Petersen, Peter Nicholas, Carmen Pingree, William M. McMahon, Donna Spiker, Linda Lotspeich, Helena Kraemer, Patty McCague, Sue Dimiceli, N

Journal:

Journal of Autism and Developmental Disorders

Year:

1999

Language:

english

File:

PDF, 634 KB

english, 1999

44

ANO10c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies

Chamova, Teodora, Florez, Laura, Guergueltcheva, Velina, Raycheva, Margarita, Kaneva, Radka, Lochmüller, Hanns, Kalaydjieva, Luba, Tournev, Ivailo

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 290 KB

english, 2012

45

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

Bharti Morar, Sashka Zhelyazkova, Dimitar N. Azmanov, Melania Radionova, Dora Angelicheva, Velina Guergueltcheva, Radka Kaneva, Ingrid E. Scheffer, Ivailo Tournev, Luba Kalaydjieva, Josemir W. Sander

Journal:

Epilepsy Research

Year:

2011

Language:

english

File:

PDF, 488 KB

english, 2011

46

NMP08 Asymptomatic Charcot Marie Tooth

V. Milic Rasic, S. Todorovic, E. Nelis, M. Keckarevic, L. Kalaydjieva, V. Brankovic

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 44 KB

english, 2007

47

The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene

Peter H. S. Meijerink, Peter Yanakiev, Ina Zorn, Andy J. Grierson, Hennie Bikker, Danielle Dye, Luba Kalaydjieva, Frank Baas

Journal:

Year:

1998

Language:

english

File:

PDF, 416 KB

english, 1998

48

Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles

L. Kalaydjieva, B. Dworniczak, I. Kromensky, K. Koprivarova, B. Radeva, R. Milusheva, C. Aulehla-Scholz, J. Horst

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 612 KB

english, 1992

49

From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks

F. CALAFELL, P. UNDERHILL, A. TOLUN, D. ANGELICHEVA, L. KALAYDJIEVA

Journal:

Annals of Human Genetics

Year:

1996

Language:

english

File:

PDF, 1.16 MB

english, 1996

50

Identification of Eight Novel Mutations in a Collaborative Analysis of a Part of the Second Transmembrane Domain of the CFTR Gene

B. Mercier, W. Lissens, G. Novelli, L. Kalaydjieva, M. De Arce, N. Kapranov, N.Canki Klain, G. Lenoir, P. Chauveau, C. Lenaerts, G. Rault, S. Cashman, F. Sangiuolo, M.P. Audrézet, B. Dallapiccola, H.

Journal:

Year:

1993

File:

PDF, 161 KB

1993

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