Zobrazeno 1 - 10 of 40 pro vyhledávání: '"MESH: Germ-Line Mutation"'
1
Screening of BRCA1/2 variants in Mauritanian breast cancer patients
Autor: Brahim, Selma Mohamed, Zein, Ekht Elbenina, Bonnet, Crystel, Hamed, Cheikh Tijani, Salame, Malak, Zein, Mohamed Vall, Khyatti, Meriem, Tolba, Ahmedou, Houmeida, Ahmed
Publikováno v: BMC Cancer
BMC Cancer, 2022, 22 (1), pp.802. ⟨10.1186/s12885-022-09903-8⟩
Background and study aim Carrying a pathogenic BRCA1/2 variant increases greatly young women’s risk of developing breast cancer (BC). This study aimed to provide the first genetic data on BC in Mauritania. Methods Using NGS based screening; we sear
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eb0742c36793b4f4918e3ff4fcbdd8a
https://pubmed.ncbi.nlm.nih.gov/35858847
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2
Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience
Autor: Pondrom, Morgane, Bougeard, Gaëlle, Karanian, Marie, Bonneau-Lagacherie, Jacynthe, Boulanger, Cecile, Boutroux, Hélène, Briandet, Claire, Chevreau, Christine, Corradini, Nadège, Coze, Carole, Defachelles, Anne Sophie, Galmiche-Roland, Louise, Orbach, Daniel, Piguet, Christophe, Scoazec, Jean Yves, Vérité, Cécile, Willems, Marjolaine, Frebourg, Thierry, Minard, Véronique, Brugières, Laurence, Bonneau‐Lagacherie, Jacynthe, Galmiche‐Roland, Louise
Publikováno v: Pediatric Blood and Cancer
Pediatric Blood and Cancer, Wiley, 2020, 67 (9), pp.e28486. ⟨10.1002/pbc.28486⟩
Objective To describe the clinical characteristics and outcome of patients with Li-Fraumeni-associated rhabdomyosarcoma (RMS). Method Retrospective analysis of data from 31 French patients with RMS diagnosed before the age of 20 years associated with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc8907056d28f73f9cbfe780a4fdf9c5
https://doi.org/10.1002/pbc.28486
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3
Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins
Autor: M Mahmoudi, Samir Boubaker, Amira Jaballah-Gabteni, Haifa Tounsi, Mousaddak Azzouz, Hamza Dallali, Hamza Yaiche, Sahar Elouej, Maria Kabbage, Ines Ben Ayed, Lamine Hamzaoui, Mouna Medhioub, Sonia Abdelhak, Afifa Maaloul, Yosr Hamdi, Nadia Ben Jemii, Najla Mezghani
Publikováno v: Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-13 (2019)
Journal of Translational Medicine
Journal of Translational Medicine, BioMed Central, 2019, 17 (1), pp.212. ⟨10.1186/s12967-019-1961-9⟩
Background Lynch syndrome (LS) is a highly penetrant inherited cancer predisposition syndrome, characterized by autosomal dominant inheritance and germline mutations in DNA mismatch repair genes. Despite several genetic variations that have been iden
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3714aec0aaa66ec377220ed5bbeb7de9
https://doi.org/10.1186/s12967-019-1961-9
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4
Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome
Autor: Najla Mekki, S. Ben Becher, N. Matoussi, Mohamed-Ridha Barbouche, Meriem Ben-Ali, Nourhen Agrebi, Beya Larguèche, Imen Ben-Mustapha, M. Ben-Ahmed, N Dhouib, Mohamed Bejaoui
Publikováno v: Clinical Immunology
Clinical Immunology, Elsevier, 2017, 183, pp.17-23. ⟨10.1016/j.clim.2017.06.009⟩
International audience; Autoimmune lymphoproliferative syndrome (ALPS) is a prototypic disorder of impaired apoptosis characterized by autoimmune features and lymphoproliferation. Heterozygous germline or somatic FAS mutations associated with preserv
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db713ca08b2e05cd368cd3ffdac40428
https://hal-riip.archives-ouvertes.fr/pasteur-01553307
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5
Mosaicism and prenatal diagnosis options: insights from retinoblastoma
Autor: Isabelle Aerts, Marion Gauthier-Villars, Catherine Dehainault, Lisa Golmard, Julien Tarabeux, Dominique Stoppa-Lyonnet, Nathalie Cassoux, Gaël A Millot, Claude Houdayer, Agathe Charpin, Anthony Laugé
Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩
European Journal of Human Genetics, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩
International audience; In sporadic cases, a post-zygotic mutational event signifies a somatic mosaicism in the affected child only, which implies that these mutations affect only a portion of the body. Therefore siblings do not need follow-up. On th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bfa59d7772742c0907ce9b2f971b0cb
https://hal-pasteur.archives-ouvertes.fr/pasteur-03105162
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6
Implications of SDHB genetic testing in patients with sporadic pheochromocytoma
Autor: MAIGNAN, AURELIE, Guerin, Carole, Julliard, Valentin, Paladino, Nunzia-Cinzia, Kim, Edward, Roche, Philippe, Castinetti, Frederic, Essamet, Wassim, Mancini, Julien, Imperiale, Alessio, Clifton-Bligh, Roderick, Romanet, Pauline, Barlier, Anne, Pacak, Karel, Sebag, Frédéric, Taieb, David, Maignan, Aurélie
Publikováno v: Langenbecks Arch Surg
Langenbeck's Archives of Surgery
Langenbeck's Archives of Surgery, Springer Verlag, 2017, 402 (5), pp.787-798. ⟨10.1007/s00423-017-1564-y⟩
Langenbeck's Archives of Surgery, 2017, 402 (5), pp.787-798. ⟨10.1007/s00423-017-1564-y⟩
International audience; PURPOSE: Succinate dehydrogenase B (SDHB) associated pheochromocytomas (PHEOs) are associated with a higher risk of tumor aggressiveness and malignancy. The aim of the present study was to evaluate (1) the frequency of germlin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d2be27d58ec7ee776147cd1e1b1ff99
https://pubmed.ncbi.nlm.nih.gov/28229225
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7
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation
Autor: Carine Bonnard, Mohamed Denguezli, Ali Saad, François Malecaze, John E. Connolly, Seth L. Masters, Hazel Tye, Moez Gribaa, John A. McGrath, Kim S. Robinson, Ons Mamaï, Vincent Soler, Aristotle Lau, Reshmaa Balaji, Ildikó Szeverényi, Atsushi Otsuka, Masashi Akiyama, Pierre Fournié, Richard Hopkins, Keya Roy, Patricia J. Ahl, Sebastian Hiller, Lorenzo Sborgi, Lobna Boussofara, L. A. Jones, Roxana Ioana Nedelcu, Kenji Kabashima, Salma Samir Omar, Takuya Takeichi, E. Birgitte Lane, Franklin L. Zhong, Paul J. Baker, Bruno Reversade, Lukáš Lacina
Publikováno v: Cell
Cell, Elsevier, 2016, 167 (1), pp.187-202.e17. ⟨10.1016/j.cell.2016.09.001⟩
Cell, 167(1), 187-+. Cell Press
Cell, 2016, 167 (1), pp.187-202.e17. ⟨10.1016/j.cell.2016.09.001⟩
International audience; Inflammasome complexes function as key innate immune effectors that trigger inflammation in response to pathogen- and danger-associated signals. Here, we report that germline mutations in the inflammasome sensor NLRP1 cause tw
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e4463444006fe6db979bfa8173593c7
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03158675
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8
Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome
Autor: Ulrike Zabel, Thomas Wieland, Martin J. Lohse, Fabio R. Faucz, Annalisa Vetro, Andrea Osswald, Guillaume Assié, Cristina L. Ronchi, Thomas Schwarzmayr, Susanne Diener, Caroline Kisker, Bruno Allolio, Tim M. Strom, Silviu Sbiera, Olivia Barreau, Martin Reincke, Delphine Vezzosi, Felix Beuschlein, Jérôme Bertherat, Orsetta Zuffardi, Antonella Forlino, Thomas Meitinger, Martin Fassnacht, Katrin Schaak, Eva Szarek, Constantine A. Stratakis, Anett Schmittfull, Paraskevi Salpea, Davide Calebiro, Marthe Rizk-Rabin
Publikováno v: New England Journal of Medicine
New England Journal of Medicine, Massachusetts Medical Society, 2014, 370 (11), pp.1019-1028. ⟨10.1056/NEJMoa1310359⟩
New England Journal of Medicine, Massachusetts Medical Society, 2014, 370 (11), pp.1019-28. 〈10.1056/NEJMoa1310359〉
New England Journal of Medicine, Massachusetts Medical Society, 2014, 370 (11), pp.1019-28. ⟨10.1056/NEJMoa1310359⟩
New England Journal of Medicine, 2014, 370 (11), pp.1019-28. ⟨10.1056/NEJMoa1310359⟩
International audience; BACKGROUND: Corticotropin-independent Cushing's syndrome is caused by tumors or hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol-producing adrenal adenomas is not well understood. METHODS: We performed
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aefd92b522a983c9b7b564fa4686b280
https://hal.archives-ouvertes.fr/hal-02376099
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9
Familial solitary chondrosarcoma resulting from germline EXT2 mutation
Autor: Heddar, Abdelkader, Fermey, Pierre, Coutant, Sophie, Angot, Émilie, Sabourin, Jean-Christophe, Michelin, Paul, Parodi, Nathalie, Charbonnier, Francoise, Vezain, Myriam, Bougeard, Gaëlle, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tournier, Isabelle
Publikováno v: Genes, Chromosomes and Cancer
Genes, Chromosomes and Cancer, Wiley, 2017, 56 (2), pp.128-134. ⟨10.1002/gcc.22419⟩
International audience; Germline mutations of EXT2, encoding Exostosin Glycosyltransferase 2, are associated with multiple osteochondromas (MO), an autosomal dominant disease characterized by the development of multiple peripheral cartilaginous benig
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e25eee7a69f78d394dd5add2a0219850
https://pubmed.ncbi.nlm.nih.gov/27636706
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