Congenital Cataracts – Facial Dysmorphism – Neuropathy

by Kalaydjieva Luba
Published 2006-08-01

Congenital Cataracts – Facial Dysmorphism – Neuropathy

by Kalaydjieva, Luba
Published 2006

Genetic studies of the Roma (Gypsies): a review

by Kalaydjieva, Luba, Gresham, David, Calafell, Francesc
Published 2001

Detecting population growth, selection and inherited fertility from haplotypic data in humans.

by Austerlitz, Frédéric, Kalaydjieva, Luba, Heyer, Evelyne
Published 2003

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

by Chamova, Teodora, Zlatareva, Dora, Raycheva, Margarita, Bichev, Stoyan, Kalaydjieva, Luba, Tournev, Ivailo
Published in Behav Neurol (2015)

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

by Flesch, Brigitte K., Morar, Bharti, Comas, David, Muñiz-Diaz, Eduardo, Nogués, Núria, Kalaydjieva, Luba
Published in Blood Transfus (2016)

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

by Rogers, Tamara, Chandler, David, Angelicheva, Dora, Thomas, P. K., Youl, Bryan, Tournev, Ivailo, Gergelcheva, Velina, Kalaydjieva, Luba
Published 2000

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

by Chandler, David, Lopaticki, Sash, Huang, Dexing, Hunter, Michael, Angelicheva, Dora, Kilpatrick, Trevor, King, Rosalind HM, Kalaydjieva, Luba, Morahan, Grant
Published 2013

Deleterious GRM1 Mutations in Schizophrenia

by 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
Published 2012

Challenges of diagnostic exome sequencing in an inbred founder population

by Azmanov, Dimitar N, Chamova, Teodora, Tankard, Rick, Gelev, Vladimir, Bynevelt, Michael, Florez, Laura, Tzoneva, Dochka, Zlatareva, Dora, Guergueltcheva, Velina, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba
Published 2013

Genetic Evidence for a Distinct Subtype of Schizophrenia Characterized by Pervasive Cognitive Deficit

by Hallmayer, Joachim F., Kalaydjieva, Luba, Badcock, Johanna, Dragović, Milan, Howell, Sarah, Michie, Patricia T., Rock, Daniel, Vile, David, Williams, Rachael, Corder, Elizabeth H., Hollingsworth, Kate, Jablensky, Assen
Published 2005

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

by Hantke, Janina, Chandler, David, King, Rosalind, Wanders, Ronald JA, Angelicheva, Dora, Tournev, Ivailo, McNamara, Elyshia, Kwa, Marcel, Guergueltcheva, Velina, Kaneva, Radka, Baas, Frank, Kalaydjieva, Luba
Published 2009

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

by Hruz, Tomas, Wyss, Markus, Docquier, Mylene, Pfaffl, Michael W, Masanetz, Sabine, Borghi, Lorenzo, Verbrugghe, Phebe, Kalaydjieva, Luba, Bleuler, Stefan, Laule, Oliver, Descombes, Patrick, Gruissem, Wilhelm, Zimmermann, Philip
Published 2011

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

by Kalaydjieva, Luba, Gresham, David, Gooding, Rebecca, Heather, Lisa, Baas, Frank, de Jonge, Rosalein, Blechschmidt, Karin, Angelicheva, Dora, Chandler, David, Worsley, Penelope, Rosenthal, Andre, King, Rosalind H. M., Thomas, P. K.
Published 2000

Y-Chromosome Analysis in Individuals Bearing the Basarab Name of the First Dynasty of Wallachian Kings

by Martinez-Cruz, Begoña, Ioana, Mihai, Calafell, Francesc, Arauna, Lara R., Sanz, Paula, Ionescu, Ramona, Boengiu, Sandu, Kalaydjieva, Luba, Pamjav, Horolma, Makukh, Halyna, Plantinga, Theo, van der Meer, Jos W. M., Comas, David, Netea, Mihai G.
Published 2012

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

by Kalaydjieva, Luba, Perez-Lezaun, Anna, Angelicheva, Dora, Onengut, Suna, Dye, Danielle, Bosshard, Nils U., Jordanova, Albena, Savov, Alexei, Yanakiev, Peter, Kremensky, Ivo, Radeva, Brigitta, Hallmayer, Joachim, Markov, Arseni, Nedkova, Vanya, Tournev, Ivailo, Aneva, Lidia, Gitzelmann, Richard
Published 1999

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

by Guergueltcheva, Velina, Azmanov, Dimitar N., Angelicheva, Dora, Smith, Katherine R., Chamova, Teodora, Florez, Laura, Bynevelt, Michael, Nguyen, Thai, Cherninkova, Sylvia, Bojinova, Veneta, Kaprelyan, Ara, Angelova, Lyudmila, Morar, Bharti, Chandler, David, Kaneva, Radka, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba
Published 2012

Origins and Divergence of the Roma (Gypsies)

by Gresham, David, Morar, Bharti, Underhill, Peter A., Passarino, Giuseppe, Lin, Alice A., Wise, Cheryl, Angelicheva, Dora, Calafell, Francesc, Oefner, Peter J., Shen, Peidong, Tournev, Ivailo, de Pablo, Rosario, Kuĉinskas, Vaidutis, Perez-Lezaun, Anna, Marushiakova, Elena, Popov, Vesselin, Kalaydjieva, Luba
Published 2001

Functionally distinct PI 3-kinase pathways regulate myelination in the peripheral nervous system

by Heller, Bradley A., Ghidinelli, Monica, Voelkl, Jakob, Einheber, Steven, Smith, Ryan, Grund, Ethan, Morahan, Grant, Chandler, David, Kalaydjieva, Luba, Giancotti, Filippo, King, Rosalind H., Fejes-Toth, Aniko Naray, Fejes-Toth, Gerard, Feltri, Maria Laura, Lang, Florian, Salzer, James L.
Published 2014

The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time

by Zhivotovsky, Lev A., Underhill, Peter A., Cinnioğlu, Cengiz, Kayser, Manfred, Morar, Bharti, Kivisild, Toomas, Scozzari, Rosaria, Cruciani, Fulvio, Destro-Bisol, Giovanni, Spedini, Gabriella, Chambers, Geoffrey K., Herrera, Rene J., Yong, Kiau Kiun, Gresham, David, Tournev, Ivailo, Feldman, Marcus W., Kalaydjieva, Luba
Published 2004