نتائج البحث - "CESARIO, CLAUDIA"

1

دورية أكاديمية

Assessment of geneâ€“disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

المساهمون: UCL - (SLuc) Centre de gÃ©nÃ©tique mÃ©dicale UCL, Radboud University Medical Center - Department of Pathology, CHU Caen Normandie - Service de GÃ©nÃ©tique, University of Helsinki - Laboratory of Genetics, Institut de Recerca Sant Joan de DÃ©u - Genomic Unit, Hospital Sant Joan de Deu - Department of Dermatology, Bambino GesÃ¹ Children Hospital and Research Institute - Laboratory of Medical Geneticsogy, Sorbonne UniversitÃ© - DÃ©partement de GÃ©nÃ©tique, Karolinska Institutet and Department of Clinical Genetics - Department of Molecular Medicine and Surgery, Copenhagen University Hospital - Rigshospitalet - Department of Genetics, Center of Diagnostics, Hospital Sant Joan de DÃ©u - Laboratory of Molecular Oncology, University of Helsinki - Department of Clinical Genetics, Oslo University Hospital - Department of Medical Genetics, Bambino GesÃ¹ Children Hospital and Research Institute - Laboratory of Medical Genetics, University Hospital Otto-Von-Guericke-University - Institute of Human Genetics, UCL - (SLuc) Centre de malformations vasculaires congÃ©nitales, UCL - SSS/DDUV/GEHU - GÃ©nÃ©tique, WEL Research Institute - WELBIO Department

المصدر: Orphanet Journal of Rare Diseases, Vol. 19, no.1, p. 213 (2024)

العلاقة: boreal:288618; http://hdl.handle.net/2078.1/288618Test; urn:ISSN:1750-1172; urn:EISSN:1750-1172

الإتاحة: https://doi.org/10.1186/s13023-024-03196-9Test
http://hdl.handle.net/2078.1/288618Test

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النص الكامل

2

دورية أكاديمية

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients

المؤلفون: Diociaiuti, Andrea, Corbeddu, Marialuisa, Rossi, Sabrina, Pisaneschi, Elisa, Cesario, Claudia, Condorelli, Angelo Giuseppe, Samela, Tonia, Giancristoforo, Simona, Angioni, Adriano, Zambruno, Giovanna, Novelli, Antonio, Alaggio, Rita, Abeni, Damiano, El Hachem, May

المصدر: Dermatology ; volume 240, issue 3, page 397-413 ; ISSN 1018-8665 1421-9832

الإتاحة: https://doi.org/10.1159/000536366Test
https://karger.com/drm/article-pdf/240/3/397/4240492/000536366.pdfTest

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3

دورية أكاديمية

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

المؤلفون: Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio

المساهمون: Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yanni, LeBlanc, Pontu, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio

مصطلحات موضوعية: Drosophila, SRSF1, epigenetic signature, haploinsufficiency, neurodevelopmental disorder, splicing

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37071997; info:eu-repo/semantics/altIdentifier/wos/WOS:001038185000001; volume:110; issue:5; firstpage:790; lastpage:808; numberofpages:19; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11585/964856Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153601944; https://www.sciencedirect.com/science/article/pii/S0002929723001003Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.03.016Test
https://hdl.handle.net/11585/964856Test
https://www.sciencedirect.com/science/article/pii/S0002929723001003Test

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4

دورية أكاديمية

Additional file 1 of Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA ...

مصطلحات موضوعية: Genetics, FOS Biological sciences

الإتاحة: https://doi.org/10.6084/m9.figshare.25884951.v110.6084/m9.figshare.2588495110.1097/00006534-198203000-0000210.1038/ng.27210.1093/hmg/ddp00210.1161/circresaha.121.31814510.1016/j.ajhg.2015.11.01110.1126/scitranslmed.aaf116410.1186/s13023-021-01929-810.1055/s-0037-160429610.1053/j.sempedsurg.2014.06.01410.1158/2159-8290.cd-17-032110.1002/humu.2364010.1038/s41436-021-01211-z10.1038/gim.2018.310.1016/j.jmoldx.2016.06.01010.1038/gim.2015.3010.1016/j.jmoldx.2016.10.00210.1038/s41591-019-0479-210.1093/hmg/ddab14410.15252/emmm.202012324Test
https://springernature.figshare.com/articles/journal_contribution/Additional_file_1_of_Assessment_of_gene_disease_associations_and_recommendations_for_genetic_testing_for_somatic_variants_in_vascular_anomalies_by_VASCERN-VASCA/25884951/1Test

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5

دورية أكاديمية

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

المؤلفون: van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael

المصدر: Genetics in Medicine ; volume 25, issue 2, page 100004 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.100004Test
https://api.elsevier.com/content/article/PII:S1098360022010711?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022010711?httpAccept=text/plainTest

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6

دورية أكاديمية

Surgical management of pediatric intracranial cerebral cavernous malformations: a 10-year single-center experience.

المؤلفون: CALLONI, TOMMASO, CARAI, ANDREA, LIOI, FRANCESCO, CAVALIERE, MARILOU, DE BENEDICTIS, ALESSANDRO, ROSSI, SABRINA, RANDI, FRANCO, ESPAGNET, MARIA C. ROSSI, TRIVISANO, MARINA, CESARIO, CLAUDIA, PISANESCHI, ELISA, MARASI, ALESSANDRA, SAVIOLI, ALESSANDRA, GIUSSANI, CARLO G., MARRAS, CARLO E.

المصدر: Journal of Neurosurgical Sciences; Jun2024, Vol. 68 Issue 3, p278-286, 9p

7

دورية أكاديمية

Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

المصدر: Orphanet Journal of Rare Diseases; 5/22/2024, Vol. 19 Issue 1, p1-14, 14p

مصطلحات موضوعية: GENETIC testing, ARNOLD-Chiari deformity, PHYSICIANS, MOSAICISM, HUMAN abnormalities, HISTOPATHOLOGY, POSTHARVEST diseases

النص الكامل

8

دورية أكاديمية

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism

المساهمون: Niceta, Marcello, Ciolfi, Andrea, Ferilli, Marco, Pedace, Lucia, Cappelletti, Camilla, Nardini, Claudia, Hildonen, Mathi, Chiriatti, Luigi, Miele, Evelina, Dentici, Maria Lisa, Gnazzo, Maria, Cesario, Claudia, Pisaneschi, Elisa, Baban, Anwar, Novelli, Antonio, Maitz, Silvia, Selicorni, Angelo, Squeo, Gabriella Maria, Merla, Giuseppe, Dallapiccola, Bruno, Tumer, Zeynep, Digilio, Maria Cristina, Priolo, Manuela, Tartaglia, Marco

العلاقة: journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11588/957939Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85188530138

الإتاحة: https://doi.org/10.1038/s41431-024-01597-9Test
https://hdl.handle.net/11588/957939Test

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9

دورية أكاديمية

Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome

المؤلفون: Carli, Diana, Cardaropoli, Simona, Tessaris, Daniele, Coppo, Paola, La Selva, Roberta, Cesario, Claudia, Lepri, Francesca Romana, Pullano, Verdiana, Palumbo, Martina, Ramenghi, Ugo, Brusco, Alfredo, Medico, Enzo, De Sanctis, Luisa, Ferrero, Giovanni Battista, Mussa, Alessandro

المساهمون: Carli, Diana, Cardaropoli, Simona, Tessaris, Daniele, Coppo, Paola, La Selva, Roberta, Cesario, Claudia, Lepri, Francesca Romana, Pullano, Verdiana, Palumbo, Martina, Ramenghi, Ugo, Brusco, Alfredo, Medico, Enzo, De Sanctis, Luisa, Ferrero, Giovanni Battista, Mussa, Alessandro

مصطلحات موضوعية: MEK inhibitor, RASopathie, Schimmelpenning-Feuerstein-Mims syndrome, cutaneous skeletal hypophosphatemia syndrome, trametinib

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35999193; info:eu-repo/semantics/altIdentifier/wos/WOS:000855014100001; firstpage:1; lastpage:7; numberofpages:7; journal:GENES, CHROMOSOMES & CANCER; https://hdl.handle.net/2318/1875480Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85138314511

الإتاحة: https://doi.org/10.1002/gcc.23092Test
https://hdl.handle.net/2318/1875480Test

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10

دورية أكاديمية

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

المؤلفون: van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O'Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

المصدر: van der Sluijs , P J , Joosten , M , Alby , C , Attié-Bitach , T , Gilmore , K , Dubourg , C , Fradin , M , Wang , T , Kurtz-Nelson , E C , Ahlers , K P , Arts , P , Barnett , C P , Ashfaq , M , Baban , A , van den Born , M , Borrie , S , Busa , T , Byrne , A , Carriero , M , Cesario , C , Chong , K , Cueto-González , A M , Dempsey , ....

العلاقة: https://pure.eur.nl/en/publications/2accdc59-2152-4691-8b7a-11dd29e7a796Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.04.010Test
https://pure.eur.nl/en/publications/2accdc59-2152-4691-8b7a-11dd29e7a796Test
http://www.scopus.com/inward/record.url?scp=85130377668&partnerID=8YFLogxKTest

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