Dimitar Azmanov

Dr

  • The University of Western Australia (M576), 35 Stirling Highway,

    6009 Perth

    Australia

  • 454 Citations
  • 10 h-Index
20042019
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Research Output 2004 2019

  • 454 Citations
  • 10 h-Index
  • 20 Article
  • 2 Review article
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Article
10 Citations (Scopus)

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

Thomson, B. R., Souma, T., Tompson, S. W., Onay, T., Kizhatil, K., Siggs, O. M., Feng, L., Whisenhunt, K. N., Yanovitch, T. L., Kalaydjieva, L., Azmanov, D. N., Finzi, S., Tanna, C. E., Hewitt, A. W., Mackey, D. A., Bradfield, Y. S., Souzeau, E., Javadiyan, S., Wiggs, J. L., Pasutto, F. & 6 othersLiu, X., John, S. W. M., Craig, J. E., Jin, J., Young, T. L. & Quaggin, S. E., 1 Dec 2017, In : Journal of Clinical Investigation. 127, 12, p. 4421-4436 16 p.

Research output: Contribution to journalArticle

Open Access
Angiopoietin-1
Angiopoietins
Glaucoma
Trabecular Meshwork
Aqueous Humor
41 Citations (Scopus)

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., Azmanov, D., Finzi, S., Mauri, L., Javadiyan, S., Souzeau, E., Zhou, T., Hewitt, A., Kloss, B. & 15 othersBurdon, K. P., Mackey, D., Allen, K. F., Ruddle, J. B., Lim, S. H., Rozen, S., Tran-Viet, K. N., Liu, X., John, S., Wiggs, J. L., Pasutto, F., Craig, J. E., Jin, J., Quaggin, S. E. & Young, T. L., Jul 2016, In : Journal of Clinical Investigation. 126, 7, p. 2575-2587

Research output: Contribution to journalArticle

Open Access
Angiopoietins
Glaucoma
Mutation
Anterior Chamber
Intraocular Pressure
3 Citations (Scopus)

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

Morar, B., Zhelyazkova, S., Azmanov, D., Radionova, M., Angelicheva, D., Guergueltcheva, V., Kaneva, R., Scheffer, I. E., Tournev, I., Kalaydjieva, L. & Sander, J. W., 2011, In : Epilepsy Research. 97, p. 198-207

Research output: Contribution to journalArticle

Apoptosis can be induced by Lontrel

Gateva, SP., Azmanov, D., Jovtchev, G., Stergios, M., Arsov, T. & Georgieva, V., 2004, In : COMPTES RENDUS DE L ACADEMIE BULGARE DES SCIENCES. 57, 9, p. 51-56

Research output: Contribution to journalArticle

48 Citations (Scopus)

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

Guergueltcheva, V., Azmanov, D., Angelicheva, D., Smith, K. R., Chamova, T., Florez, L., Bynevelt, M., Nguyne, T., Cherninkova, S., Bojinova, V., Kaprelyan, A., Angelova, L., Morar, B., Chandler, D., Kaneva, R., Bahlo, M., Tournev, I. & Kalaydjieva, L., 7 Sep 2012, In : American Journal of Human Genetics. 91, 3, p. 553-564

Research output: Contribution to journalArticle

Open Access
Cerebellar Ataxia
Mutation
Introns
Exons
Gait Ataxia
8 Citations (Scopus)

Challenges of diagnostic exome sequencing in an inbred founder population

Azmanov, D., Chamova, T., Tankard, R., Gelev, V., Bynevelt, M., Florez, L., Tzoneva, D., Zlatareva, D., Guergueltcheva, V., Bahlo, M., Tournev, I. & Kalaydjieva, L., 2013, In : Molecular Genetics and Genomic Medicine. 1, 2, p. 71-76

Research output: Contribution to journalArticle

Open Access
7 Citations (Scopus)

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

Azmanov, D., Zhelyazkova, S., Radionova, M., Morar, B., Angelicheva, D., Zlatareva, D., Kaneva, R., Tournev, I., Kalaydjieva, L. & Sander, J. W., 2011, In : Epilepsy Research. 96, p. 101-108

Research output: Contribution to journalArticle

6 Citations (Scopus)

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

Ivanov, I. S., Azmanov, D., Ivanova, M. B., Chamova, T., Pacheva, I. H., Panova, M. V., Song, S., Morar, B., Yordanova, R. V., Galabova, F. K., Sotkova, I. G., Linev, A. J., Bitchev, S., Shearwood, A-M., Kancheva, D., Gabriková, D., Karcagi, V., Guergueltcheva, V., Geneva, I. E., Bozhinova, V. & 9 othersStoyanova, V. K., Kremensky, I. M., Jordanova, A. G., Savov, A. S., Horváth, R., Brown, M. A., Tournev, I., Filipovska, A. & Kalaydjieva, L., Sep 2014, In : Molecular Genetics and Metabolism. 113, 1-2, p. 76-83

Research output: Contribution to journalArticle

Open Access
Roma
Lactic Acidosis
Genes
Mutation
Bulgaria
20 Citations (Scopus)

Further evidence for allelic heterogeneity in Hartnup disorder

Azmanov, D., Kowalczuk, S., Rodgers, H. J., Auray-Blais, C., Giguère, R., Rasko, J. E. J., Broër, S. & Cavanaugh, J. A., 2008, In : Human Mutation. 29, 10, p. 1217-21

Research output: Contribution to journalArticle

Hartnup Disease
Viverridae
Alleles
Mutation
Quebec
8 Citations (Scopus)

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., Sentchordi Montané, L., Vendrell, T., Cruz, J., Santos, F., Ignacio Rodriguez, J., Pozo, J., Argente, J., Kalaydjieva, L., Gracia, R., Campos-Barros, Á., Benito-Sanz, S. & Heath, K. E., 2011, In : European Journal of Human Genetics. 19, p. 1218-1225

Research output: Contribution to journalArticle

40 Citations (Scopus)

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

Azmanov, D., Dimitrova, S., Florez, L., Cherninkova, S., Draganov, D., Morar, B., Saat, R., Juan, M., Arostegui, J. I., Ganguly, S., Soodyall, H., Chakrabarti, S., Padh, H., López-Nevot, M. A., Chernodrinska, V., Anguelov, B., Majumder, P., Angelova, L., Kaneva, R., Mackey, D. & 2 othersTournev, I. & Kalaydjieva, L., 2011, In : European Journal of Human Genetics. 19, p. 326-333

Research output: Contribution to journalArticle

Open Access
16 Citations (Scopus)

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia

Kancheva, D., Chamova, T., Guergueltcheva, V., Mitev, V., Azmanov, D., Kalaydjieva, L., Tournev, I. & Jordanova, A., 2015, In : Movement Disorders. 30, 6, p. 854-858

Research output: Contribution to journalArticle

Hereditary Spastic Paraplegia
Mutation
Dystonia
Spastic Paraparesis
Exome
12 Citations (Scopus)

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family

Azmanov, D., Zhelyazkova, S., Dimova, P. S., Radionova, M., Bojinova, V., Florez, L., Smith, S. J., Tournev, I., Jablensky, A., Mulley, J., Scheffer, I., Kalaydjieva, L. & Sander, J. W., 2010, In : Epileptic Disorders. 12, 2, p. 117-124

Research output: Contribution to journalArticle

162 Citations (Scopus)

Null mutations in LTBP2 cause primary congenital glaucoma

Ali, M., Mckibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., Murphy, A. L., Azmanov, D., Tournev, I., Cherninkova, S., Jafri, H., Raashid, Y., Toomes, C., Craig, J. & 4 othersMackey, D., Kalaydjieva, L., Riazuddin, S. & Inglehearn, C. F., 2009, In : The American Journal of Human Genetics. 84, p. 664-671

Research output: Contribution to journalArticle

Glaucoma
Mutation
Genes
Roma
Anterior Eye Segment
12 Citations (Scopus)

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

Angelicheva, D., Tournev, I., Guergueltcheva, V., Mihaylova, V., Azmanov, D., Morar, B., Radionova, M., Smith, S. J., Zlatareva, D., Stevens, J. M., Kaneva, R., Bojinova, V., Carter, K., Brown, M., Jablensky, A., Kalaydjieva, L., Sander, J. W. & Kalaydjieva, L., 2009, In : Epilepsia. 50, 7, p. 1679-1688

Research output: Contribution to journalArticle

Roma
Partial Epilepsy
Epilepsy
Temporal Lobe Epilepsy
Pedigree
8 Citations (Scopus)

Persistence of the common Hartnup disease D173N allele in populations of European origin

Azmanov, D., Rodgers, HJ., Auray-Blais, C., Giguère, R., Bailey, C., Broër, S., Rasko, JEJ. & Cavanaugh, JA., 2007, In : Annals of Human Genetics. 71, 6, p. 755-61

Research output: Contribution to journalArticle

29 Citations (Scopus)

Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization

Azmanov, D., Milachich, TV., Zaharieva, BM., Michailova, GI., Dimitrova, VG., Karagiozova, ZH., Maznejkova, VT., Chernev, TA. & Toncheva, DI., 2007, In : European Journal of Obstetrics & Gynecology and Reproductive Biology. 131, 2, p. 127-31

Research output: Contribution to journalArticle

14 Citations (Scopus)

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

Jablensky, A., Angelicheva, D., Donohoe, GJ., Cruickshank, M., Azmanov, D., Morris, DW., Mcrae, A., Weickert, CS., Carter, KW., Chandler, D., Alexandrov, B., Usheva, B., Morar, B., Verbrugghe, P., Filipovska, A., Rackham, O., Bishop, AR., Rasmussen, KO., Dragovic, M., Cooper, M. & 9 othersPhillips, M., Badcock, J., Bramon-Bosch, E., Almeida, O., Flicker, L., Gill, M., Corvin, A., Macgregor, S. & Kalaydjieva, L., 2011, In : Molecular Psychiatry. 2011, p. 1-12

Research output: Contribution to journalArticle

2 Citations (Scopus)

Silver Russel syndrome in an aboriginal patient from Australia

Poulton, C., Azmanov, D., Atkinson, V., Beilby, J., Ewans, L., Gration, D., Dreyer, L., Shetty, V., Peake, C., McCormack, E., Palmer, R., Lewis, B., Dawkins, H., Broley, S. & Baynam, G., 1 Dec 2018, In : American Journal of Medical Genetics, Part A. 176, 12, p. 2561-2563 3 p.

Research output: Contribution to journalArticle

Silver-Russell Syndrome
Genetic Databases
Knowledge Bases
Fetal Growth Retardation
Computer Simulation
8 Citations (Scopus)

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement

Azmanov, D. N., Siira, S. J., Chamova, T., Kaprelyan, A., Guergueltcheva, V., Shearwood, A-M. J., Liu, G., Morar, B., Rackham, O., Bynevelt, M., Grudkova, M., Kamenov, Z., Svechtarov, V., Tournev, I., Kalaydjieva, L. & Filipovska, A., 2016, In : Human Molecular Genetics. 25, 19, p. 4302-4314 13 p.

Research output: Contribution to journalArticle