Search Results - "BEI, Thalia"

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes by Bertherat, Jérôme, Horvath, Anélia, Groussin, Lionel, Grabar, Sophie, Boikos, Sosipatros, Cazabat, Laure, Libe, Rosella, René-Corail, Fernande, Stergiopoulos, Sotirios, Bourdeau, Isabelle, Bei, Thalia, Clauser, Eric, Calender, Alain, Kirschner, Lawrence S., Bertagna, Xavier, Carney, J. Aidan, Stratakis, Constantine A.

“…Background: The “complex of myxomas, spotty skin pigmentation, and endocrine overactivity,” or “Carney complex” (CNC), is caused by inactivating mutations of…”
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Genetics of Carney Triad: Recurrent Losses at Chromosome 1 but Lack of Germline Mutations in Genes Associated with Paragangliomas and Gastrointestinal Stromal Tumors by Matyakhina, Ludmila, Bei, Thalia A., McWhinney, Sarah R., Pasini, Barbara, Cameron, Silke, Gunawan, Bastian, Stergiopoulos, Sotirios G., Boikos, Sosipatros, Muchow, Michael, Dutra, Amalia, Pak, Evgenia, Campo, Elias, Cid, Maria C., Gomez, Fulgencio, Gaillard, Rolf C., Assie, Guillaume, Füzesi, Laszlo, Baysal, Bora E., Eng, Charis, Carney, J. Aidan, Stratakis, Constantine A.

“…Context: Carney triad (CT) describes the association of paragangliomas (PGLs) with gastrointestinal stromal tumors (GISTs) and pulmonary chondromas…”
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A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A by Bethanis, Sotirios, Koutsodontis, George, Palouka, Theodosia, Avgoustis, Christos, Yannoukakos, Drakoulis, Bei, Thalia, Papadopoulos, Savas, Linos, Dimitrios, Tsagarakis, Stylianos

“…Multiple endocrine neoplasia type 2A (MEN2A) is a syndrome of familial neoplasias characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and…”
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Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD by PASINI, Barbara, MCWHINNEY, Sarah R, BAUDIN, Eric, CHOMPRET, Agnes, ELLISON, Jay W, BRIERE, Jean-Jacques, RUSTIN, Pierre, GIMENEZ-ROQUEPLO, Anne-Paule, CHARIS ENG, AIDAN CARNEY, J, STRATAKIS, Constantine A, BEI, Thalia, MATYAKHINA, Ludmila, STERGIOPOULOS, Sotirios, MUCHOW, Michael, BOIKOS, Sosipatros A, FERRANDO, Barbara, PACAK, Karel, ASSIE, Guillaume

“…Gastrointestinal stromal tumors (GISTs) may be caused by germline mutations of the KIT and platelet-derived growth factor receptor-alpha (PDGFRA) genes and…”
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Loss of expression of protein kinase A regulatory subunit 1α in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions by ZEMBOWICZ, Artur, KNOEPP, Stewart M, BEI, Thalia, STERGIOPOULOS, Sotirios, ENG, Charis, MIHM, Martin C, STRATAKIS, Constantine A

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Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity by BERTHERAT, Jerome, GROUSSIN, Lionel, PERLEMOINE, Karine, GICQUEL, Christine, BERTAGNA, Xavier, STRATAKIS, Constantine A, SANDRINI, Fabiano, MATYAKHINA, Ludmila, BEI, Thalia, STERGIOPOULOS, Sotirios, PAPAGEORGIOU, Theocharis, BOURDEAU, Isabelle, KIRSCHNER, Lawrence S, VINCENT-DEJEAN, Caroline

“…Germ-line protein kinase A (PKA) regulatory-subunit type-Ialpha (RIalpha; PRKAR1A)-inactivating mutations and loss-of-heterozygosity (LOH) of its 17q22-24…”
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Multiple Gastrointestinal Stromal and Other Tumors Caused by Platelet-Derived Growth Factor Receptor α Gene Mutations: A Case Associated with a Germline V561D Defect by Pasini, Barbara, Matyakhina, Ludmila, Bei, Thalia, Muchow, Michael, Boikos, Sosipatros, Ferrando, Barbara, Carney, J. Aidan, Stratakis, Constantine A.

“…Context: Gastrointestinal stromal tumors (GISTs) may be caused by somatic or germline mutations of the KIT and PDGFRA genes, but most GISTs associated with…”
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Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients by Konstantopoulou, Irene, Rampias, Theodore, Ladopoulou, Angela, Koutsodontis, George, Armaou, Sophia, Anagnostopoulos, Theodore, Nikolopoulos, George, Kamakari, Smaragda, Nounesis, George, Stylianakis, Antonis, Karanikiotis, Charisios, Razis, Evangelia, Gogas, Helen, Keramopoulos, Antonios, Gaki, Vassiliki, Markopoulos, Christos, Skarlos, Dimosthenis, Pandis, Nikos, Bei, Thalia, Arzimanoglou, Iordanis, Fountzilas, George, Yannoukakos, Drakoulis

“…127 Greek breast/ovarian cancer families were screened for germline BRCA1/2 mutations by dHPLC followed by direct sequencing. Our results indicated 16 and 5…”
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A rare RET gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening by Kaldrymides, Philippos, Mytakidis, Nikolaos, Anagnostopoulos, Theodore, Vassiliou, Manolis, Tertipi, Athanasia, Zahariou, Maria, Rampias, Theodoros, Koutsodontis, Giorgos, Konstantopoulou, Irene, Ladopoulou, Angela, Bei, Thalia, Yannoukakos, Drakoulis

“…Summary Objective  Familial medullary thyroid carcinoma (FMTC) is caused by germ‐line mutations in the RET proto‐oncogene. These mutations concern mainly…”
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Molecular cloning, chromosomal localization of human peripheral-type benzodiazepine receptor and PKA regulatory subunit type 1A (PRKAR1A)-associated protein PAP7, and studies in PRKAR1A mutant cells and tissues by Liu, Jun, Matyakhina, Ludmila, Han, Zeqiu, Sandrini, Fabiano, Bei, Thalia, Stratakis, Constantine A, Papadopoulos, Vassilios

“…A mouse protein that interacts with the peripheral-type benzodiazepine receptor (PBR) and cAMP-dependent protein kinase A (PKA) regulatory subunit RIalpha…”
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The expression of early light-inducible proteins (ELIPs) under high-light stress as defense marker in Northern- and Southern European cultivars of barley (Hordeum vulgare) by Bei-Paraskevopoulou, T, Kloppstech, K. (Hannover Univ. (Germany))

“…Clones coding for the two small early light‐inducible proteins (ELIP)‐gene families of 13.5 and 17 kDa have been used as markers to study the effect of…”
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Loss of expression of protein kinase a regulatory subunit 1alpha in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions by Zembowicz, Artur, Knoepp, Stewart M, Bei, Thalia, Stergiopoulos, Sotirios, Eng, Charis, Mihm, Martin C, Stratakis, Constantine A

“…Pigmented epithelioid melanocytoma (PEM) is a recently described entity comprising most cases previously described as "animal-type melanoma" and epithelioid…”
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Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor a gene mutations : A case associated with a germline V561D defect by PASINI, Barbara, MATYAKHINA, Ludmila, BEI, Thalia, MUCHOW, Michael, BOIKOS, Sosipatros, FERRANDO, Barbara, CARNEY, J. Aidan, STRATAKIS, Constantine A

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Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women : Syndrome or coincidence by PERRY, Colin G, YOUNG, William F, MCWHINNEY, Sarah R, BEI, Thalia, STERGIOPOULOS, Sotirios, KNUDSON, Ryan A, KETTERLING, Rhett P, ENG, Charis, STRATAKIS, Constantine A, CARNEY, J. Aidan

“…Functioning paraganglioma and gastrointestinal stromal tumor (GIST) are uncommon tumors that occur mostly in a sporadic and isolated form, occasionally as…”
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Molecular cloning, chromosomal localization of human peripheral‐type benzodiazepine receptor‐ and protein kinase A regulatory subunit type 1A (PRKAR1A)‐associated protein PAP7 and studies in PRKAR1A mutant cells and tissues by Liu, Jun, Matyakhina, Ludmila, Han, Zeqiu, Sandrini, Fabiano, Bei, Thalia, Stratakis, Constantine A., Papadopoulos, Vassilios

“…ABSTRACT A mouse protein that interacts with the peripheral‐type benzodiazepine receptor (PBR) and cAMP‐dependent protein kinase A (PKA) regulatory subunit RIα…”
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A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site by Bei, Thalia, Tilkeridis, Constantinos, Garantziotis, Stavros, Boikos, Sosipatros A., Kazakos, Konstantinos, Simopoulos, Constantinos, Stratakis, Constantine A.

“…OBJECTIVE: We recently reported the association of the Sp1 site polymorphism of the COL1A1 gene with lumbar disk disease (LDD). In the present study we…”
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Functioning Paraganglioma and Gastrointestinal Stromal Tumor of the Jejunum in Three Women: Syndrome or Coincidence by Perry, Colin G, Young, William F, McWhinney, Sarah R, Bei, Thalia, Stergiopoulos, Sotirios, Knudson, Ryan A, Ketterling, Rhett P, Eng, Charis, Stratakis, Constantine A, Carney, J Aidan

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ORIGINAL ARTICLE: A rare RET gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening by Kaldrymides, Philippos, Mytakidis, Nikolaos, Anagnostopoulos, Theodore, Vassiliou, Manolis, Tertipi, Athanasia, Zahariou, Maria, Rampias, Theodoros, Koutsodontis, Giorgos, Konstantopoulou, Irene, Ladopoulou, Angela, Bei, Thalia, Yannoukakos, Drakoulis

“…Objective: Familial medullary thyroid carcinoma (FMTC) is caused by germ-line mutations in the RET proto-oncogene. These mutations concern mainly cysteine…”
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High sequence divergence in the 5′ non-coding region of reference Coxsackie B and ECHO viral strains and clinical isolates revealed by restriction fragment length polymorphism analysis by Georgopoulou, Amalia, Markoulatos, Panayotis, Spyrou, Niki, Vakalis, Nicholas, Bei, Thalia A., Vamvakopoulos, Nicholas C.

“…We report the restriction fragment length polymorphism (RFLP) patterns of a 440-bp-long 5′ non-coding region (5′NCR) amplification target of all 34 reference…”
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Erratum to “Heroin-induced changes of catechoamine-containing particles in male rat cerebellar cortex” [Life Sciences 69 (2001) 347-58] by Katsorchis, Theodoros, Bei-Paraskevopoulou, Thalia, Mouzaki, Despina, Vamvakopoulos, Nicholas C

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