Search Results - "Sarkisian, Tamara" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

by Shinar, Yael, Ceccherini, Isabella, Rowczenio, Dorota, Aksentijevich, Ivona, Arostegui, Juan, Ben-Chétrit, Eldad, Boursier, Guilaine, Gattorno, Marco, Hayrapetyan, Hasmik, Ida, Hiroaki, Kanazawa, Nobuo, Lachmann, Helen J, Mensa-Vilaro, Anna, Nishikomori, Ryuta, Oberkanins, Christian, Obici, Laura, Ohara, Osamu, Ozen, Seza, Sarkisian, Tamara, Sheils, Katie, Wolstenholme, Nicola, Zonneveld-Huijssoon, Evelien, van Gijn, Marielle E, Touitou, Isabelle
Published in Clinical chemistry (Baltimore, Md.) (01.04.2020)

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Familial Mediterranean fever in Armenian children with inflammatory bowel disease

Familial Mediterranean fever in Armenian children with inflammatory bowel disease

by Amaryan, Gayane, Sarkisian, Tamara, Tadevosyan, Artashes, Braegger, Christian
Published in Frontiers in pediatrics (12.02.2024)

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Very low frequency of the lactase persistence allele LCT-13910T in the Armenian population

Very low frequency of the lactase persistence allele LCT-13910T in the Armenian population

by Németh, Stefan, Kriegshäuser, Gernot, Hovhannesyan, Kristine, Hayrapetyan, Hasmik, Oberkanins, Christian, Sarkisian, Tamara
Published in Annals of human biology (01.09.2022)

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Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer

by Moradian, Mike M., Babikyan, Davit T., Markarian, Sione, Petrosyan, Jonny G., Avanesian, Nare, Arutunyan, Tereza, Sarkisian, Tamara F.
Published in Human genome variation (09.02.2021)

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The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome

The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome

by Ilaslan, Erkut, Markosyan, Renata, Sproll, Patrick, Stevenson, Brian J, Sajek, Malgorzata, Sajek, Marcin P, Hayrapetyan, Hasmik, Sarkisian, Tamara, Livshits, Ludmila, Nef, Serge, Jaruzelska, Jadwiga, Kusz-Zamelczyk, Kamila
Published in International journal of molecular sciences (09.11.2020)

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Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes

Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes

by Jéru, Isabelle, Le Borgne, Gaëlle, Cochet, Emmanuelle, Hayrapetyan, Hasmik, Duquesnoy, Philippe, Grateau, Gilles, Morali, Alain, Sarkisian, Tamara, Amselem, Serge
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.05.2011)

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Overview of Cancer Control in Armenia and Policy Implications

Overview of Cancer Control in Armenia and Policy Implications

by Bedirian, Karen, Aghabekyan, Tigran, Mesrobian, Arianna, Shekherdimian, Shant, Zohrabyan, Davit, Safaryan, Liana, Sargsyan, Lilit, Avagyan, Armen, Harutyunyan, Lilit, Voskanyan, Astghik, Tadevosyan, Artashes, Melik-Nubaryan, Davit, Khachatryan, Parandzem, Saghatelyan, Tatul, Kostanyan, Mher, Vardevanyan, Hovhannes, Hovhannisyan, Marine, Sarkisian, Tamara, Sargsyan, Karine, Babikyan, Davit, Tananyan, Armen, Danielyan, Samvel, Muradyan, Armen, Tamamyan, Gevorg, Bardakhchyan, Samvel
Published in Frontiers in oncology (11.01.2022)

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Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations

Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations

by Moradian, Mike M, Sarkisian, Tamara, Ajrapetyan, Hasmik, Avanesian, Nare
Published in Journal of human genetics (01.06.2010)

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A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

by Hancarova, Miroslava, Babikyan, Davit, Bendova, Sarka, Midyan, Susanna, Prchalova, Darina, Shahsuvaryan, Gohar, Stranecky, Viktor, Sarkisian, Tamara, Sedlacek, Zdenek
Published in Molecular genetics & genomic medicine (01.09.2019)

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Involvement of the modifier gene of a human Mendelian disorder in a negative selection process

Involvement of the modifier gene of a human Mendelian disorder in a negative selection process

by Jéru, Isabelle, Hayrapetyan, Hasmik, Duquesnoy, Philippe, Cochet, Emmanuelle, Serre, Jean-Louis, Feingold, Josué, Grateau, Gilles, Sarkisian, Tamara, Jeanpierre, Marc, Amselem, Serge
Published in PloS one (30.10.2009)

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Prevention of Amyloidosis in Familial Mediterranean Fever with Colchicine: A Case-Control Study in Armenia

Prevention of Amyloidosis in Familial Mediterranean Fever with Colchicine: A Case-Control Study in Armenia

by Sevoyan, Maria K., Sarkisian, Tamara F., Beglaryan, Ara A., Shahsuvaryan, Gohar R., Armenian, Haroutune K.
Published in Medical principles and practice (01.01.2009)

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Plasminogen activator inhibitor-1 genotype 4G/5G associates with skin involvement in Armenian familial Mediterranean fever patients

Plasminogen activator inhibitor-1 genotype 4G/5G associates with skin involvement in Armenian familial Mediterranean fever patients

by Kriegshäuser, Gernot, Hayrapetyan, Hasmik, Oberkanins, Christian, Sarkisian, Tamara
Published in Rheumatology international (01.11.2024)

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Reproductive disorders in homozygotes and heterozygotes patients with familial Mediterranean fever patients and controls

Reproductive disorders in homozygotes and heterozygotes patients with familial Mediterranean fever patients and controls

by Sotskiy, Pavel, Sotskaya, Olga, Sarkisian, Tamara, Hayrapetyan, Hasmik, Ben-Chetrit, Eldad, Safaryan, Marina
Published in Clinical and experimental rheumatology (01.10.2024)

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Serum amyloid A1 genotype associates with adult-onset familial Mediterranean fever in patients homozygous for mutation M694V

Serum amyloid A1 genotype associates with adult-onset familial Mediterranean fever in patients homozygous for mutation M694V

by Kriegshäuser, Gernot, Hayrapetyan, Hasmik, Atoyan, Stepan, Oberkanins, Christian, Sarkisian, Tamara
Published in Rheumatology (Oxford, England) (05.01.2021)

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Reply to: Addressing key missing variables in reproductive health studies in familial Mediterranean fever

Reply to: Addressing key missing variables in reproductive health studies in familial Mediterranean fever

by Sotskiy, Pavel, Sotskaya, Olga, Sarkisian, Tamara, Hayrapetyan, Hasmik, Safaryan, Marina, Ben-Chetrit, Eldad
Published in Clinical and experimental rheumatology (01.10.2024)

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Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever

Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever

by Kriegshäuser, Gernot, Enko, Dietmar, Hayrapetyan, Hasmik, Atoyan, Stepan, Oberkanins, Christian, Sarkisian, Tamara
Published in Genetics in medicine (01.12.2018)

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Infertility Causes and Pregnancy Outcome in Patients with Familial Mediterranean Fever and Controls

Infertility Causes and Pregnancy Outcome in Patients with Familial Mediterranean Fever and Controls

by Sotskiy, Pavel Olegovich, Sotskaya, Olga Leontevna, Hayrapetyan, Hasmik Sureni, Sarkisian, Tamara Fadei, Yeghiazaryan, Anna Rafaelovna, Atoyan, Stepan Armenovich, Ben-Chetrit, Eldad
Published in Journal of rheumatology (01.04.2021)

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Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa

Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa

by Pironon, Nathalie, Gasparyan, Artyom, Yubero, María Joao, Duchatelet, Sabine, Hovhannesyan, Kristina, Leclerc-Mercier, Stephanie, Kostandyan, Natella, Palisson, Francis, Sarkisian, Tamara, Titeux, Matthias, Fuentes, Ignacia, Hovnanian, Alain
Published in European journal of human genetics : EJHG (05.12.2024)

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Association between serum amyloid A1 genotype and age of onset restricts to M694 homozygote familial Mediterranean fever patients in Armenia

Association between serum amyloid A1 genotype and age of onset restricts to M694 homozygote familial Mediterranean fever patients in Armenia

by Kriegshäuser, Gernot, Hayrapetyan, Hasmik, Atoyan, Stepan, Oberkanins, Christian, Sarkisian, Tamara
Published in Clinical and experimental rheumatology (01.09.2021)

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Country as the primary risk factor for renal amyloidosis in familial mediterranean fever

Country as the primary risk factor for renal amyloidosis in familial mediterranean fever

by Touitou, Isabelle, Sarkisian, Tamara, Medlej‐Hashim, Myrna, Tunca, Mehmet, Livneh, Avi, Cattan, Daniel, Yalçinkaya, Fatos, Özen, Seza, Majeed, Hassan, Ozdogan, Huri, Kastner, Daniel, Booth, David, Ben‐Chetrit, Eldad, Pugnère, Denis, Michelon, Cécile, Séguret, Fabienne, Gershoni‐Baruch, Ruth
Published in Arthritis and rheumatism (01.05.2007)

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