Search Results - "Stefanova Margarita"

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities by Yamamoto, Toshiyuki, Wilsdon, Anna, Joss, Shelagh, Isidor, Bertrand, Erlandsson, Anna, Suri, Mohnish, Sangu, Noriko, Shimada, Shino, Shimojima, Keiko, Le Caignec, Cédric, Samuelsson, Lena, Stefanova, Margarita

“…The majority of Xq22 duplications seen in patients with Pelizaeus-Merzbacher disease (PMD) include proteolipid protein 1 (PLP1), the gene responsible for PMD,…”
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Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter by Kirchhoff, Maria, Bisgaard, Anne-Marie, Stoeva, Radka, Dimitrov, Boyan, Gillessen-Kaesbach, Gabriele, Fryns, Jean-Pierre, Rose, Hanne, Grozdanova, Liliana, Ivanov, Ivan, Keymolen, Kathelijn, Fagerberg, Christina, Tranebjaerg, Lisbeth, Skovby, Flemming, Stefanova, Margarita

“…Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant on the size and position of the deleted region. In order to update the…”
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Penning electrons energy spectra in dc He-Ar microdischarge by Stefanova, Margarita S., Pramatarov, Petko M., Kudryavtsev, Anatoly A., Saifutdinov, Almaz I.

“…Summary form only given. Recently developed new collisional electron spectroscopy (CES) method allows measuring the Penning electron energy spectra in the…”
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Thyroid hormonal axis regulates protein C anticoagulation pathway in rats by Negrev Negrin, Nyagolov Yuri, Stefanova Margarita, Stancheva Emiliya

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Hippocampal asymmetry in angiotensin II modulatory effects on learning and memory in rats by Tashev, Roman, Stefanova, Margarita

“…Learning and memory effects of angiotensin II (Ang II) microinjected unilaterally (left or right) and bilaterally into hippocampal CA1 area on the background…”
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Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations by Stoeva, Radka E, Grozdanova, Liliana I, Vermeesch, Joris R, Kirchhoff, Maria, Fryns, Jean-Pierre, Ivanov, Ivan S, Patcheva, Iliana H, Dimitrov, Boyan I, Krastev, Tsanyu B, Linev, Alexander J, Stefanova, Margarita T

“…Cryptic chromosome aberrations are a common cause of idiopathic mental retardation and multiple congenital malformations syndromes (MR/MCM). This study…”
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UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene by Thunstrom, Sofia, Sodermark, Liv, Ivarsson, Liz, Samuelsson, Lena, Stefanova, Margarita

“…Intragenic mutations of the UBE2A gene, as well as larger deletions of Xq24 encompassing UBE2A have in recent years been associated with a syndromic form of…”
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A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants by Sandestig, Anna, Green, Anna, Aronsson, Johan, Ellnebo, Katarina, Stefanova, Margarita

“…The DLG3 gene is located at Xq13.1 and encodes SAP102, a member of the MAGUK protein family, extensively expressed in the brain and involved in synaptic…”
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NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome? by Sandestig, Anna, Engström, Karolina, Pepler, Alexander, Danielsson, Ingela, Odelberg-Johnsson, Per, Biskup, Saskia, Holz, Anja, Stefanova, Margarita

“…There is no clearly established association between the gene NUP188 and human pathology. Only a few reports of patients with different clinical presentation…”
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On the Syntax of Yes-O Questions in Bulgarian and Portuguese by Dimitrova, Margarita Stefanova

“…In recent years the syntax of yes-no questions has been subject to some intriguing discussions capitalising on the relation between questions and polarity and…”
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Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review by Sandestig, Anna, Green, Anna, Jonasson, Jon, Vogt, Hartmut, Wahlström, Johan, Pepler, Alexander, Ellnebo, Katarina, Biskup, Saskia, Stefanova, Margarita

“…The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with…”
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype by Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, E., Bouquillon, S., Boute-Benejean, O., Caumes, R., Chatron, N., Colson, C., Coubes, C., Coutton, C., Devillard, F., Dieux-Coeslier, A., Doco-Fenzy, M., Ewans, L. J., Faivre, L., Fassi, E., Field, M., Fournier, C., Francannet, C., Genevieve, D., Giurgea, I., Goldenberg, A., Green, A. K., Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, B. L., Kuentz, P., Lapi, E., Le Meur, N., Lesca, G., Li, D., Marey, I., Mignot, C., Nava, C., Nesbitt, A., Nicolas, G., Roche-Lestienne, C., Roscioli, T., Satre, V., Santani, A., Stefanova, M., Steinwall Larsen, S., Saugier-Veber, P., Picker-Minh, S., Thuillier, C., Verloes, A., Vieville, G., Wenzel, M., Willems, M., Whalen, S., Zarate, Y. A., Ziegler, A., Manouvrier-Hanu, S., Kalscheuer, V. M., Gerard, B., Ghoumid, Jamal

“…Molecular anomalies in MED13L , leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct…”
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Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome by Hüning, Irina, Kutsche, Kerstin, Rajaei, Saideh, Erlandsson, Anna, Lovmar, Lovisa, Rundberg, Julia, Stefanova, Margarita

“…Abstract The X-linked form of Opitz G/BBB syndrome is a congenital midline malformation syndrome caused by MID1 loss-of-function mutations, including point…”
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Yes-No Questions in Portuguese and Bulgarian: A Comparative Study by Dimitrova, Margarita Stefanova

“…Variation and cross-linguistic comparison has been the subject of many recent and not so recent studies with the purpose of understanding structures and…”
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A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype by Stefanova, Margarita, Meinecke, Peter, Gal, Andreas, Bolz, Hanno

“…We report a four‐generation pedigree with six affected females with cranial hyperostosis and various skeletal abnormalities. The phenotype is similar to…”
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Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome by Abo-Dalo, Benjamin, Kim, Hyung-Goo, Roes, Melanie, Stefanova, Margarita, Higgins, Anne, Shen, Yiping, Mundlos, Stefan, Quade, Bradley J., Gusella, James F., Kutsche, Kerstin

“…Zimmermann–Laband syndrome (ZLS) is a rare autosomal dominant inherited disorder characterized by a coarse facial appearance, gingival fibromatosis, and…”
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Disruption of ERBB2IP Is not Associated with Dystrophic Epidermolysis Bullosa in Both Father and Son Carrying a Balanced 5;13 Translocation by Stefanova, Margarita, Zemke, Katrin, Dimitrov, Boyan, Has, Christina, Kern, Johannes S., Bruckner-Tuderman, Leena, Kutsche, Kerstin

“…Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant inherited dystrophic epidermolysis bullosa (DEB). We report a…”
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Zimmermann–Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: Molecular cytogenetic characterization of the breakpoint regions by Stefanova, Margarita, Atanassov, Dimitar, Krastev, Tzaniu, Fuchs, Sigrid, Kutsche, Kerstin

“…Zimmermann–Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, abnormalities of the nose and/or ears, and absence or hypoplasia of…”
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The Apoptosis Inhibitor Gene API2 and a Novel 18q Gene,MLT, Are Recurrently Rearranged in the t(11;18)(q21;q21) Associated With Mucosa-Associated Lymphoid Tissue Lymphomas by Dierlamm, Judith, Baens, Mathijs, Wlodarska, Iwona, Stefanova-Ouzounova, Margarita, Hernandez, Jesus Maria, Hossfeld, Dieter Kurt, De Wolf-Peeters, Christiane, Hagemeijer, Anne, Van den Berghe, Herman, Marynen, Peter

“…Marginal zone cell lymphomas of the mucosa-associated lymphoid tissue (MALT) are the most common subtype of lymphoma arising at extranodal sites. The…”
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The Apoptosis Inhibitor Gene API2 and a Novel 18q Gene,MLT, Are Recurrently Rearranged in the t(11;18)(q21;q21) Associated With Mucosa-Associated Lymphoid Tissue Lymphomas by Dierlamm, Judith, Baens, Mathijs, Wlodarska, Iwona, Stefanova-Ouzounova, Margarita, Hernandez, Jesus Maria, Hossfeld, Dieter Kurt, De Wolf-Peeters, Christiane, Hagemeijer, Anne, Van den Berghe, Herman, Marynen, Peter

“…Marginal zone cell lymphomas of the mucosa-associated lymphoid tissue (MALT) are the most common subtype of lymphoma arising at extranodal sites. The…”
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