Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

171 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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. Barca-Tierno V, et al. Among authors: kalaydjieva l. Eur J Hum Genet. 2011 Dec;19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712857 Free PMC article.
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
Azmanov DN, Dimitrova S, Florez L, Cherninkova S, Draganov D, Morar B, Saat R, Juan M, Arostegui JI, Ganguly S, Soodyall H, Chakrabarti S, Padh H, López-Nevot MA, Chernodrinska V, Anguelov B, Majumder P, Angelova L, Kaneva R, Mackey DA, Tournev I, Kalaydjieva L. Azmanov DN, et al. Among authors: kalaydjieva l. Eur J Hum Genet. 2011 Mar;19(3):326-33. doi: 10.1038/ejhg.2010.181. Epub 2010 Nov 17. Eur J Hum Genet. 2011. PMID: 21081970 Free PMC article.
Origins, admixture and founder lineages in European Roma.
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. Martínez-Cruz B, et al. Among authors: kalaydjieva l. Eur J Hum Genet. 2016 Jun;24(6):937-43. doi: 10.1038/ejhg.2015.201. Epub 2015 Sep 16. Eur J Hum Genet. 2016. PMID: 26374132 Free PMC article.
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
Angelicheva D, Tournev I, Guergueltcheva V, Mihaylova V, Azmanov DN, Morar B, Radionova M, Smith SJ, Zlatareva D, Stevens JM, Kaneva R, Bojinova V, Carter K, Brown M, Jablensky A, Kalaydjieva L, Sander JW. Angelicheva D, et al. Among authors: kalaydjieva l. Epilepsia. 2009 Jul;50(7):1679-88. doi: 10.1111/j.1528-1167.2009.02066.x. Epub 2009 Mar 23. Epilepsia. 2009. PMID: 19400876 Free article.
Null mutations in LTBP2 cause primary congenital glaucoma.
Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF. Ali M, et al. Among authors: kalaydjieva l. Am J Hum Genet. 2009 May;84(5):664-71. doi: 10.1016/j.ajhg.2009.03.017. Epub 2009 Apr 9. Am J Hum Genet. 2009. PMID: 19361779 Free PMC article.
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. Morar B, et al. Among authors: kalaydjieva l. Epilepsy Res. 2011 Nov;97(1-2):198-207. doi: 10.1016/j.eplepsyres.2011.08.009. Epub 2011 Sep 13. Epilepsy Res. 2011. PMID: 21917424
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Azmanov DN, Zhelyazkova S, Dimova PS, Radionova M, Bojinova V, Florez L, Smith SJ, Tournev I, Jablensky A, Mulley J, Scheffer I, Kalaydjieva L, Sander JW. Azmanov DN, et al. Among authors: kalaydjieva l. Epileptic Disord. 2010 Jun;12(2):117-24. doi: 10.1684/epd.2010.0311. Epileptic Disord. 2010. PMID: 20562086 Free article.
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. Ivanov IS, et al. Among authors: kalaydjieva l. Mol Genet Metab. 2014 Sep-Oct;113(1-2):76-83. doi: 10.1016/j.ymgme.2014.07.017. Epub 2014 Jul 21. Mol Genet Metab. 2014. PMID: 25087164 Free article.
Mutation history of the roma/gypsies.
Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L. Morar B, et al. Among authors: kalaydjieva l. Am J Hum Genet. 2004 Oct;75(4):596-609. doi: 10.1086/424759. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322984 Free PMC article.
171 results