Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Serdar Kasakyan"'
Autor:
Yeranuhi Hovhannisyan, Onnik Agbulut, Serdar Kasakyan, Denise Paulin, Zhigang Xue, Zhenlin Li
Publikováno v:
American Journal of Physiology-Cell Physiology
American Journal of Physiology-Cell Physiology, American Physiological Society, 2020, 318 (4), pp.C709-C718. ⟨10.1152/ajpcell.00485.2019⟩
American Journal of Physiology-Cell Physiology, 2020, 318 (4), pp.C709-C718. ⟨10.1152/ajpcell.00485.2019⟩
American Journal of Physiology-Cell Physiology, American Physiological Society, 2020, 318 (4), pp.C709-C718. ⟨10.1152/ajpcell.00485.2019⟩
American Journal of Physiology-Cell Physiology, 2020, 318 (4), pp.C709-C718. ⟨10.1152/ajpcell.00485.2019⟩
This review analyzes data concerning patients with cardiomyopathies or skeletal myopathies associated with a variation in the intermediate filament (IF) synemin gene ( SYNM), also referred to as desmuslin ( DMN). Molecular studies demonstrate that sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2ee2779ea1b628687eef577fa9aacdb
https://hal.archives-ouvertes.fr/hal-02988850
https://hal.archives-ouvertes.fr/hal-02988850
WOS: 000388199100026
PubMed ID: 27531620
Here we summarize the clinical and molecular findings in a 68-year-old female with dysmorphic features, mild-to-moderate intellectual disability, and behavioral findings suggesting autism spectrum di
PubMed ID: 27531620
Here we summarize the clinical and molecular findings in a 68-year-old female with dysmorphic features, mild-to-moderate intellectual disability, and behavioral findings suggesting autism spectrum di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75855e94bd9f45b6976c56a725605e74
https://hdl.handle.net/20.500.12415/1541
https://hdl.handle.net/20.500.12415/1541
Autor:
Petronella Hupuczi, Lucia Haakova, P. De la Fuente, Hana Viskova, Triantafyllos Tafas, Andrée Delahaye, Mark I. Evans, Paul Thornton, Joseph P. Bruner, Nikolaos A. Papadopulos, Omer Kandemir, Hélio Antonio Guimarães Filho, J.M. Puente, Sebastião Marques Zanforlin Filho, István Sziller, James Tepperberg, N. Scott Adzick, Jan Kvasnicka, Edgar Biemer, Matthias Foehn, Gábor Viktor Szabó, Brigitte Benzacken, George E. Davis, Mark P. Johnson, William H. Peranteau, Jean-Philippe Wolf, Arupa Ganguly, Serdar Şen, G.A. Rau, Luciano Marcondes Machado Nardozza, Evangelos Paraskevaidis, Julia Henke, Serdar Kasakyan, B. Hollwitz, R. Hass, Cyril Eboué, Zsanett Szigeti, J. Schauer, Michael Sharp, Ömer Faruk Demir, Laszlo Kovacs, Ulrike Schillinger, Charles A. Stanley, Susanne Klotz, I. Staboulidou, Lori J. Howell, Catherine Delorme-Vincent, Noel Tulipan, Moncef Benkhalifa, Andreas Raith, Ioanna Bouba, Ioannis Georgiou, Stéphanie Aicardi, D. Escribano, Patrick Bailleul, Antonio Fernandes Moron, Eva Pipiras, Elisabeth Hatzi, Petros Tsipouras, Corinne Jeanne-Pasquier, Edward Araujo Júnior, Z. Zizka, J. Arbués, Michel Dreyfus, Michael W. Kilpatrick, Leandros Lazaros, Louise Devisme, A. Galindo, Bahar Başkan, M. Klimek, Barbara Rigó, Zoltán Papp, Raymund E. Horch, Laura Steinmuller, Tomas Fait, Michel Herlicoviez, Pavel Calda, Claudio Rodrigues Pires, A. Scharf, Luc Durin, Müberra Koçak
Publikováno v:
Fetal Diagnosis and Therapy. 21:553-556
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21e0b9ae3b8bc632327929e84b8a2f78
https://doi.org/10.1159/000097507
https://doi.org/10.1159/000097507
Autor:
Valerie Mairovitz, Moncef Benkhalifa, Marie-Cécile Aubry, Serdar Kasakyan, Gérard Tachdjian, Sophie Brisset, Evelyne Gautier, Aurore Coulomb L'Herminé
Publikováno v:
Prenatal Diagnosis. 26:206-213
Objectives Increased nuchal translucency (NT) during the first trimester of pregnancy is a useful marker to detect chromosomal abnormalities. Here, we report a prenatal case with molecular cytogenetic characterisation of an abnormal derivative chromo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a95faa8da3657231db6c5fbb2c0508
https://doi.org/10.1002/pd.1379
https://doi.org/10.1002/pd.1379
Autor:
Elisabeth Hatzi, Michael Sharp, Michel Herlicoviez, Andreas Raith, Ömer Faruk Demir, Moncef Benkhalifa, Omer Kandemir, Edward Araujo Júnior, Z. Zizka, Ioannis Georgiou, Gábor Viktor Szabó, Petros Tsipouras, Triantafyllos Tafas, Barbara Rigó, Susanne Klotz, Zoltán Papp, Pavel Calda, Stéphanie Aicardi, Laura Steinmuller, Serdar Şen, Michael W. Kilpatrick, A. Galindo, Luciano Marcondes Machado Nardozza, Eva Pipiras, N. Scott Adzick, Matthias Foehn, Catherine Delorme-Vincent, Noel Tulipan, Joseph P. Bruner, D. Escribano, István Sziller, Bahar Başkan, Ioanna Bouba, George E. Davis, Tomas Fait, Leandros Lazaros, Müberra Koçak, Arupa Ganguly, Jean-Philippe Wolf, Claudio Rodrigues Pires, Cyril Eboué, Jan Kvasnicka, Louise Devisme, J. Schauer, A. Scharf, Hélio Antonio Guimarães Filho, J.M. Puente, Luc Durin, Corinne Jeanne-Pasquier, Laszlo Kovacs, Julia Henke, Nikolaos A. Papadopulos, P. De la Fuente, B. Hollwitz, J. Arbués, Zsanett Szigeti, Ulrike Schillinger, Michel Dreyfus, M. Klimek, Patrick Bailleul, Serdar Kasakyan, Antonio Fernandes Moron, G.A. Rau, Raymund E. Horch, Petronella Hupuczi, I. Staboulidou, Hana Viskova, Andrée Delahaye, Brigitte Benzacken, Sebastião Marques Zanforlin Filho, Evangelos Paraskevaidis, Charles A. Stanley, Paul Thornton, Lucia Haakova, James Tepperberg, Edgar Biemer, Lori J. Howell, Mark I. Evans, Mark P. Johnson, William H. Peranteau, R. Hass
Publikováno v:
Fetal Diagnosis and Therapy. 21:557-560
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b2c07702268b7241d5901e5844d7e50
https://doi.org/10.1159/000097508
https://doi.org/10.1159/000097508
Autor:
Catherine Delorme-Vincent, Eva Pipiras, Brigitte Benzacken, Moncef Benkhalifa, Serdar Kasakyan, Andrée Delahaye, Jean-Philippe Wolf, Louise Devisme
Publikováno v:
Fetal Diagnosis and Therapy. 21:485-488
Objective and Methods: We report a girl presenting with a polymalformation syndrome. Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80ea038b4272fb2a14c91a4c79f5eee8
https://doi.org/10.1159/000095658
https://doi.org/10.1159/000095658
Autor:
Timur Gurgan, Serdar Kasakyan, M. Mohammed, Patrice Clement, M. Baldi, Moncef Benkhalifa, Gérard Tachdjian, Aygul Demirol, Francesco Fiorentino, Mazin B. Qumsiyeh
Publikováno v:
Prenatal Diagnosis. 25:894-900
Objectives Cytogenetic analysis of spontaneous abortion samples can be limited by culture failure. Failure to grow in vitro has traditionally been suspected to be due to in vivo death of tissue associated with spontaneous abortion (SAB) or simply tec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f240ae282c45c9908569a1610252ffa4
https://doi.org/10.1002/pd.1230
https://doi.org/10.1002/pd.1230
Autor:
Brigitte Benzacken, Marion Gérard-Blanluet, Martine Sinico, Jean-Philippe Wolf, A. Vergnaud, S. Serero, Férechté Encha-Razavi, Andrée Delahaye, Moncef Benkhalifa, Claudine Touboul, Serdar Kasakyan, S. Kanafani, Eva Pipiras
Publikováno v:
Fetal diagnosis and therapy. 22(4)
Objective: We describe the analysis of an apparently balanced inherited reciprocal translocation in a fetus presenting with multiple congenital abnormalities, characterize the structural chromosome rearrangement, and report an unexpected additional i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5553e381b3a73a42ed24f4227fca8a4
https://pubmed.ncbi.nlm.nih.gov/17361086
https://pubmed.ncbi.nlm.nih.gov/17361086
De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH
Autor:
Serdar Kasakyan, Mazin Quimsiyeh, Gérard Tachdjian, Laurence Lohmann, Azeddine Aboura, Yves Menezo, Moncef Benkhalifa
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 1, Iss 1, p 27 (2008)
Molecular Cytogenetics, Vol 1, Iss 1, p 27 (2008)
Background In routine Assisted Reproductive Technology (ART) men with severe oligozoospermia or azoospermia should be informed about the risk of de novo congenital or chromosomal abnormalities in ICSI program. Also the benefits of preimplantation or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d749c5a6488461bfa5907eb05360a112