D. Angelicheva: search on Z-Library

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1

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

2

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

3

Cystic fibrosis patients from the black sea region: The 1677delTA mutation

D. Angelicheva, K. Boteva, A. Jordanova, A. Savov, A. Kufardjieva, A. Tolun, M. Telatar, A. Akarsubaşi, F. Köprübaşi, S. Aydoǧdu, M. Demirkol, G. Kurdoǧlu, C. D. Constantinou-Deltas, C. Georgiou, M. D

Journal:

Year:

1994

Language:

english

File:

PDF, 489 KB

english, 1994

4

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation

Raymonda Varon, Manfred Stuhrmann, Milan Macek Jr., Annie Kufardjieva, Dora Angelicheva, Klaus Magdorf, Albena Jordanova, Alexey Savov, Ulrich Wahn, Milan Macek, Vesselin Lalov, Tanya Ivanova, Helmut

Journal:

Year:

1995

Language:

english

File:

PDF, 644 KB

english, 1995

5

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

6

A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)

Luba Kalaydjieva, Anna Perez-Lezaun, Dora Angelicheva, Suna Onengut, Danielle Dye, Nils U. Bosshard, Albena Jordanova, Alexei Savov, Peter Yanakiev, Ivo Kremensky, Brigitta Radeva, Joachim Hallmayer,

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 181 KB

english, 1999

7

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

8

Deleterious GRM1 Mutations in Schizophrenia

Ayoub, Mohammed Akli, Angelicheva, Dora, Vile, David, Chandler, David, Morar, Bharti, Cavanaugh, Juleen A., Visscher, Peter M., Jablensky, Assen, Pfleger, Kevin D. G., Kalaydjieva, Luba, Smalheiser, N

Journal:

Year:

2012

Language:

english

File:

PDF, 282 KB

english, 2012

9

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

10

Cystic fibrosis in Bulgaria.

Kalaydjieva, L, Angelicheva, D, Galeva, I, Lalov, V, Konstantinova, D

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 188 KB

english, 1991

11

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

Jablensky, A, Angelicheva, D, Donohoe, G J, Cruickshank, M, Azmanov, D N, Morris, D W, McRae, A, Weickert, C S, Carter, K W, Chandler, D, Alexandrov, B, Usheva, A, Morar, B, Verbrugghe, P L, Filipovsk

Journal:

Molecular Psychiatry

Year:

2012

Language:

english

File:

PDF, 1.36 MB

english, 2012

12

The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe

Bouwer, S T, Coto, E, Santos, F, Angelicheva, D, Chandler, D, Kalaydjieva, L

Journal:

Kidney International

Year:

2007

Language:

english

File:

PDF, 58 KB

english, 2007

13

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

14

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

Velina Guergueltcheva, Dimitar N. Azmanov, Dora Angelicheva, Katherine R. Smith, Teodora Chamova, Laura Florez, Michael Bynevelt, Thai Nguyen, Sylvia Cherninkova, Veneta Bojinova, Ara Kaprelyan, Lyudm

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.31 MB

english, 2012

15

N.P.3 02 Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene

J. Colomer, R. Gooding, D. Angelicheva, R.H.M. King, Y. Parman, A. Nascimento, J. Conill, L. Kalaydjieva

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 57 KB

english, 2006

16

Origins, admixture and founder lineages in European Roma

Martínez-Cruz, Begoña, Mendizabal, Isabel, Harmant, Christine, de Pablo, Rosario, Ioana, Mihai, Angelicheva, Dora, Kouvatsi, Anastasia, Makukh, Halyna, Netea, Mihai G, Pamjav, Horolma, Zalán, Andrea,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 674 KB

english, 2015

17

Angiotensin‐converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease

Schiavello, Tina, Burke, Valerie, Bogdanova, Nadia, Jasik, Piotr, Melsom, Steve, Boudville, Neil, Robertson, Ken, Angelicheva, Dora, Dworniczak, Bernd, Lemmens, Marta, Horst, Juergen, Todorov, Vassil,

Journal:

Nephrology Dialysis Transplantation

Year:

2001

Language:

english

File:

PDF, 83 KB

english, 2001

18

Cystic fibrosis mutations and associated haplotypes in Bulgaria – a comparative population genetic study

Dora Angelicheva, Francesc Calafell, Alexey Savov, Albena Jordanova, Annie Kufardjieva, Ivanka Galeva, Vania Nedkova, Tanya Ivanova, Petya Yankova, Dimitrina Konstantinova, Evgeny Genev, Luba Kalaydji

Journal:

Year:

1997

Language:

english

File:

PDF, 80 KB

english, 1997

19

Origins and Divergence of the Roma (Gypsies)

David Gresham, Bharti Morar, Peter A. Underhill, Giuseppe Passarino, Alice A. Lin, Cheryl Wise, Dora Angelicheva, Francesc Calafell, Peter J. Oefner, Peidong Shen, Ivailo Tournev, Rosario de Pablo, Va

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 170 KB

english, 2001

20

Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries

David Chandler, Dora Angelicheva, Lisa Heather, Rebecca Gooding, David Gresham, Peter Yanakiev, Roos de Jonge, Frank Baas, Danielle Dye, Luchezar Karagyozov, Alexei Savov, Karin Blechschmidt, Bronya K

Journal:

Neuromuscular Disorders

Year:

2000

Language:

english

File:

PDF, 682 KB

english, 2000

21

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

22

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

Jaume Colomer, Rebecca Gooding, Dora Angelicheva, Rosalind H.M. King, Encarna Guillén-Navarro, Yesim Parman, Andres Nascimento, Joan Conill, Luba Kalaydjieva

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 77 KB

english, 2006

23

Hereditary Motor and Sensory Neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies

J Colomer, C Iturriaga, L Kalaydjieva, D Angelicheva, R.H.M King, P.K Thomas

Journal:

Neuromuscular Disorders

Year:

2000

Language:

english

File:

PDF, 761 KB

english, 2000

24

A chromosome 10p11.2 GT-dinucleotide repeat polymorphism at the GLUDP5 gene locus

Goulielmos, G., Angelicheva, D., Kapsetaki, M., Manifava, M., Moschonas, N.K.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 114 KB

english, 1993

25

NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24

Michael Hunter, Dora Angelicheva, Ivailo Tournev, Evan Ingley, Dick C. Chan, Gerald F. Watts, Ivo Kremensky, Luba Kalaydjieva

Journal:

Biochemical and Biophysical Research Communications

Year:

2005

Language:

english

File:

PDF, 712 KB

english, 2005

26

Bipolar disorder in the Bulgarian Gypsies: Genetic heterogeneity in a young founder population

Radka Kaneva, Vihra Milanova, Dora Angelicheva, Stuart MacGregor, Christian Kostov, Rositza Vladimirova, Spiridon Aleksiev, Mina Angelova, Vessela Stoyanova, Angeline Loh, Joachim Hallmayer, Luba Kala

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 231 KB

english, 2009

27

G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient

Savov, Alexey, Jordanova, Albena, Gavrilov, Dimitar, Angelicheva, Dora, Kalaydjieva, Luba

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.73 MB

english, 1994

28

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

29

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

Dora Angelicheva, Ivailo Tournev, Velina Guergueltcheva, Violeta Mihaylova, Dimitar N. Azmanov, Bharti Morar, Melania Radionova, Shelagh J. Smith, Dora Zlatareva, John M. Stevens, Radka Kaneva, Veneta

Journal:

Year:

2009

Language:

english

File:

PDF, 577 KB

english, 2009

30

The P28T Mutation in the GALK1 Gene Accounts for Galactokinase Deficiency in Roma (Gypsy) Patients across Europe

Hunter, Michael, Heyer, Evelyne, Austerlitz, Frederic, Angelicheva, Dora, Nedkova, Vania, Briones, Paz, Gata, Anna, De Pablo, Rosario, László, Aranka, Bosshard, Nils, Gitzelmann, Richard, Tordai, Atti

Journal:

Pediatric Research

Year:

2002

Language:

english

File:

PDF, 465 KB

english, 2002

31

2176insC: A Novel Mutation in Exon 13 of the Cystic Fibrosis Gene

Savov, Alexey, Angelicheva, Dora, Jordanova, Albena, Kremensky, Ivo, Kalaydjieva, Luba

Journal:

Year:

1996

File:

PDF, 332 KB

1996

32

A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

Hantke, Janina, Chandler, David, King, Rosalind, Wanders, Ronald JA, Angelicheva, Dora, Tournev, Ivailo, McNamara, Elyshia, Kwa, Marcel, Guergueltcheva, Velina, Kaneva, Radka

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 373 KB

english, 2009

33

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

34

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation

Mihaylova, V., Hantke, J., Sinigerska, I., Cherninkova, S., Raicheva, M., Bouwer, S., Tincheva, R., Khuyomdziev, D., Bertranpetit, J., Chandler, D., Angelicheva, D., Kremensky, I., Seeman, P., Tournev

Journal:

Year:

2006

Language:

english

File:

PDF, 284 KB

english, 2006

35

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

36

Mutation History of the Roma/Gypsies

Bharti Morar, David Gresham, Dora Angelicheva, Ivailo Tournev, Rebecca Gooding, Velina Guergueltcheva, Carolin Schmidt, Angela Abicht, Hanns Lochmüller, Attila Tordai, Lajos Kalmár, Melinda Nagy, Vero

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 3.79 MB

english, 2004

37

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

38

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Varon, Raymonda, Gooding, Rebecca, Steglich, Christina, Marns, Lorna, Tang, Hua, Angelicheva, Dora, Yong, Kiau Kiun, Ambrugger, Petra, Reinhold, Anke, Morar, Bharti

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 370 KB

english, 2003

39

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

40

A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23

Tamara Rogers, David Chandler, Dora Angelicheva, P.K. Thomas, Bryan Youl, Ivailo Tournev, Velina Gergelcheva, Luba Kalaydjieva

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.48 MB

english, 2000

41

High percentage acrylamide gels improve resolution in SSCP analysis

Savov, Alexey, Angelicheva, Dora, Jordanova, Albena, Eigel, Anton, Kalaydjieva, Luba

Journal:

Nucleic Acids Research

Year:

1992

Language:

english

File:

PDF, 95 KB

english, 1992

42

Double mutant alleles: are they rare?

Savov, A., Angelicheva, D., Balassopoulou, A., Jordanova, A., Noussia-Arvanltakis, S., Kalaydjieva, L.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.10 MB

english, 1995

43

N-myc Downstream-Regulated Gene 1 Is Mutated in Hereditary Motor and Sensory Neuropathy–Lom

Luba Kalaydjieva, David Gresham, Rebecca Gooding, Lisa Heather, Frank Baas, Rosalein de Jonge, Karin Blechschmidt, Dora Angelicheva, David Chandler, Penelope Worsley, Andre Rosenthal, Rosalind H.M. Ki

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 424 KB

english, 2000

44

Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes

Merlini, L., Gooding, R., Lochmuller, H., Muller-Felber, W., Walter, M.C., Angelicheva, D., Talim, B., Hallmayer, J., Kalaydjieva, L.

Journal:

Year:

2002

Language:

english

File:

PDF, 193 KB

english, 2002

45

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

46

Carrier Rates of the Ancestral Indian W24X Mutation in GJB2 in the General Gypsy Population and Individual Subisolates

Bouwer, Sonja, Angelicheva, Dora, Chandler, David, Seeman, Pavel, Tournev, Ivailo, Kalaydjieva, Luba

Journal:

Genetic Testing

Year:

2007

Language:

english

File:

PDF, 60 KB

english, 2007

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