نتائج البحث - "RESTA, NICOLETTA"

1

Academic Journal

Genomic profiling at a single center cracks the code in inborn errors of immunity

المؤلفون: Andriano, Alessandro, Desantis, Vanessa, Marasco, Carolina, Marzollo, Antonio, Bresolin, Silvia, Resta, Nicoletta, Di Marzo, Lucia, Pappagallo, Fabrizio, Mascolo, Antonella, Caradonna, Ingrid Catalina, D’Amore, Simona, Vacca, Angelo, Solimando, Antonio Giovanni

المصدر: Internal and Emergency Medicine ; ISSN 1828-0447 1970-9366

الاتاحة: https://doi.org/10.1007/s11739-025-03871-0
https://link.springer.com/content/pdf/10.1007/s11739-025-03871-0.pdf
https://link.springer.com/article/10.1007/s11739-025-03871-0/fulltext.html

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2

Academic Journal

Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience

المساهمون: Forleo, Cinzia, Carella, Maria Cristina, Basile, Paolo, Carulli, Eugenio, Dadamo, Michele Luca, Amati, Francesca, Loizzi, Francesco, Sorrentino, Sandro, Dentamaro, Ilaria, Dicorato, Marco Maria, Ricci, Stefano, Bagnulo, Rosanna, Iacoviello, Matteo, Santobuono, Vincenzo Ezio, Caiati, Carlo, Pepe, Martino, Desaphy, Jean-Francoi, Ciccone, Marco Matteo, Resta, Nicoletta, Guaricci, Andrea Igoren

مصطلحات موضوعية: LMNA-related cardiomyopathy, arrhythmic risk stratification, gene–phenotype correlation, implantable cardioverter defibrillator, non-missense mutation

Relation: info:eu-repo/semantics/altIdentifier/pmid/38927500; info:eu-repo/semantics/altIdentifier/wos/WOS:001254629300001; volume:12; issue:6; firstpage:1; lastpage:15; numberofpages:15; journal:BIOMEDICINES; https://hdl.handle.net/11586/491681

الاتاحة: https://hdl.handle.net/11586/491681
https://doi.org/10.3390/biomedicines12061293

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3

Academic Journal

Corrigendum to ‘Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes’ [Gene Dis (10) (2023), 1187–1189]

المؤلفون: Forte, Giovanna, Cariola, Filomena, Buonadonna, Antonia Lucia, Guglielmi, Anna Filomena, Manghisi, Andrea, De Marco, Katia, Grossi, Valentina, Fasano, Candida, Signorile, Martina Lepore, Sanese, Paola, Bagnulo, Rosanna, Resta, Nicoletta, Disciglio, Vittoria, Simone, Cristiano

المصدر: Genes & Diseases ; volume 11, issue 2, page 1084 ; ISSN 2352-3042

الاتاحة: https://doi.org/10.1016/j.gendis.2023.08.002
https://api.elsevier.com/content/article/PII:S2352304223003513?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352304223003513?httpAccept=text/plain

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4

Academic Journal

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth

المؤلفون: Gazzin, Andrea, Reynolds, Giuseppe, Massuras, Stefania, Luca, Maria, Coppo, Paola, Carli, Diana, Piglionica, Marilidia, Martino, Stefania, Bagnulo, Rosanna, Ferrero, Giovanni Battista, Resta, Nicoletta, Mussa, Alessandro

المصدر: Journal of Medical Genetics ; page jmg-2024-110364 ; ISSN 0022-2593 1468-6244

الاتاحة: https://doi.org/10.1136/jmg-2024-110364
https://syndication.highwire.org/content/doi/10.1136/jmg-2024-110364

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5

Academic Journal

ENIGMA CHEK2gether Project. A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

المؤلفون: Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K, Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J, Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S, Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D Gareth R, Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B, González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N A, Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E, Rosseel, Toon, Ruddy, Kathryn J, Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E, Trentham-Dietz, Amy, Vachon, Celine M, Volk, Alexander E, Weber-Lassalle, Nana, Weitzel, Jeffrey N, Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B, Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B M, Ngeow, Joanne, Momozawa, Yukihide, James, Paul A, Couch, Fergus J, Macurek, Libor, Kleibl, Zdenek

المساهمون: Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K, Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J, Boddicker, Nichola, Brunet, Joan, Burnside, Elizabeth S, Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, Depersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D Gareth R, Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B, González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, Jame, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, Jame, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, Mcinerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N A, Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E, Rosseel, Toon, Ruddy, Kathryn J, Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E, Trentham-Dietz, Amy, Vachon, Celine M, Volk, Alexander E, Weber-Lassalle, Nana, Weitzel, Jeffrey N, Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakouli, Yao, Song, Zampiga, Valentina, Zethoven, Magnu, Zhang, Ze Wen, Zima, Toma, Spurdle, Amanda B, Vega, Ana, Rossing, Maria

مصطلحات موضوعية: chek2, breast cancer, germline missense variants

Relation: info:eu-repo/semantics/altIdentifier/pmid/37449874; info:eu-repo/semantics/altIdentifier/wos/WOS:001053492300001; volume:29; issue:16; firstpage:1; lastpage:14; numberofpages:14; journal:CLINICAL CANCER RESEARCH; https://hdl.handle.net/11573/1685106

الاتاحة: https://hdl.handle.net/11573/1685106
https://doi.org/10.1158/1078-0432.CCR-23-0212

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6

Academic Journal

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer

المساهمون: Turchiano, Antonella, Piglionica, Marilidia, Martino, Stefania, Bagnulo, Rosanna, Garganese, Antonella, De Luisi, Annunziata, Chirulli, Stefania, Iacoviello, Matteo, Stasi, Michele, Tabaku, Ornella, Meneleo, Eleonora, Capurso, Martina, Crocetta, Silvia, Lattarulo, Simone, Krylovska, Yevheniia, Lastella, Patrizia, Forleo, Cinzia, Stella, Alessandro, Bukvic, Nenad, Simone, Cristiano, Resta, Nicoletta

مصطلحات موضوعية: ATM, CHEK2, PALB2, RAD51C, RAD51D, breast cancer, moderate-penetrance genes

Relation: info:eu-repo/semantics/altIdentifier/pmid/37628581; info:eu-repo/semantics/altIdentifier/wos/WOS:001057126100001; volume:14; issue:8; firstpage:1530; journal:GENES; https://hdl.handle.net/11586/465013

الاتاحة: https://hdl.handle.net/11586/465013
https://doi.org/10.3390/genes14081530

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7

Academic Journal

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth

المؤلفون: Luca, Maria, Piglionica, Marilidia, Bagnulo, Rosanna, Cardaropoli, Simona, Carli, Diana, Turchiano, Antonella, Coppo, Paola, Pantaleo, Antonino, Iacoviello, Matteo, Ferrero, Giovanni Battista, Mussa, Alessandro, Resta, Nicoletta

المصدر: Genes, Chromosomes and Cancer ; volume 62, issue 12, page 703-709 ; ISSN 1045-2257 1098-2264

الاتاحة: http://dx.doi.org/10.1002/gcc.23188
https://onlinelibrary.wiley.com/doi/pdf/10.1002/gcc.23188

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8

Academic Journal

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes

المؤلفون: Forte, Giovanna, Cariola, Filomena, Buonadonna, Antonia Lucia, Guglielmi, Anna Filomena, Manghisi, Andrea, De Marco, Katia, Grossi, Valentina, Fasano, Candida, Lepore Signorile, Martina, Sanese, Paola, Bagnulo, Rosanna, Resta, Nicoletta, Disciglio, Vittoria, Simone, Cristiano

المساهمون: Ministero della Salute, Governo Italiano Ministero dell'Istruzione dell'Università e della Ricerca, Associazione Italiana per la Ricerca sul Cancro, Airc Italian Foundation for Cancer Research

المصدر: Genes & Diseases ; volume 10, issue 4, page 1187-1189 ; ISSN 2352-3042

الاتاحة: http://dx.doi.org/10.1016/j.gendis.2022.11.017
https://api.elsevier.com/content/article/PII:S235230422200318X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S235230422200318X?httpAccept=text/plain

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9

Academic Journal

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies

المؤلفون: Mussa, Alessandro, Turchiano, Antonella, Cardaropoli, Simona, Coppo, Paola, Pantaleo, Antonino, Bagnulo, Rosanna, Ranieri, Carlotta, Iacoviello, Matteo, Garganese, Antonella, Stella, Alessandro, Vallero, Stefano Gabriele, Bertin, Daniele, Santoro, Federica, Carli, Diana, Ferrero, Giovanni Battista, Resta, Nicoletta

المساهمون: Mussa, Alessandro, Turchiano, Antonella, Cardaropoli, Simona, Coppo, Paola, Pantaleo, Antonino, Bagnulo, Rosanna, Ranieri, Carlotta, Iacoviello, Matteo, Garganese, Antonella, Stella, Alessandro, Vallero, Stefano Gabriele, Bertin, Daniele, Santoro, Federica, Carli, Diana, Ferrero, Giovanni Battista, Resta, Nicoletta

مصطلحات موضوعية: FGFR1, PTPN11, RASopathie, astrocytoma, mosaicism, overgrowth, Class I Phosphatidylinositol 3-Kinase, Genotype, Human, Mutation, Phenotype, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Vascular Malformations

Relation: info:eu-repo/semantics/altIdentifier/pmid/35778969; info:eu-repo/semantics/altIdentifier/wos/WOS:000825988300001; volume:61; issue:11; firstpage:689; lastpage:695; numberofpages:7; journal:GENES, CHROMOSOMES & CANCER; http://hdl.handle.net/2318/1875559; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85134246533

الاتاحة: http://hdl.handle.net/2318/1875559
https://doi.org/10.1002/gcc.23086

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10

Academic Journal

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers

المساهمون: Turchiano, Antonella, Loconte, Daria Carmela, De Nola, Rosalba, Arezzo, Francesca, Chiarello, Giulia, Pantaleo, Antonino, Iacoviello, Matteo, Bagnulo, Rosanna, De Luisi, Annunziata, Perrelli, Sonia, Martino, Stefania, Ranieri, Carlotta, Garganese, Antonella, Stella, Alessandro, Forleo, Cinzia, Loizzi, Vera, Marinaccio, Marco, Cicinelli, Ettore, Cormio, Gennaro, Resta, Nicoletta

مصطلحات موضوعية: BRCA1/2, HHR gene, PARPi, ovarian cancer, target resequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/35053526; info:eu-repo/semantics/altIdentifier/wos/WOS:000746969400001; volume:14; issue:2; firstpage:365; journal:CANCERS; https://hdl.handle.net/11586/382009

الاتاحة: https://hdl.handle.net/11586/382009
https://doi.org/10.3390/cancers14020365

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11

Academic Journal

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

المؤلفون: Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith

المساهمون: Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klau, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanisla, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulu, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Loui, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith

مصطلحات موضوعية: genomic, human genetic, nervous system malformation, neuromuscular diseases

Relation: info:eu-repo/semantics/altIdentifier/pmid/33820833; info:eu-repo/semantics/altIdentifier/wos/WOS:000728680900001; volume:59; firstpage:559; lastpage:567; numberofpages:9; journal:JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11586/366326

الاتاحة: https://hdl.handle.net/11586/366326
https://doi.org/10.1136/jmedgenet-2020-107595

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12

Academic Journal

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

المصدر: International Journal of Molecular Sciences; Sep2024, Vol. 25 Issue 17, p9637, 11p

مصطلحات موضوعية: RNA sequencing, WHOLE genome sequencing, RNA analysis, TANDEM mass spectrometry, INBORN errors of metabolism

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13

Electronic Resource

Molecular dynamics simulations of precursor derived Si-C-N ceramics

المؤلفون: Resta, Nicoletta

مصطلحات موضوعية: Molekulardynamik. Amorpher Zustand. Kristallisation.

الاتاحة: http://www.bsz-bw.de/cgi-bin/xvms.cgi?SWB11878655

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14

Academic Journal

Homozygous Phospholamban Mutation Causing Dilated Cardiomyopathy in a Young Man: From Cardiogenic Shock to Tennis Tournaments

المؤلفون: Mazzone, Federica, Giovannico, Lorenzo, Fischetti, Giuseppe, Parigino, Domenico, Guaricci, Andrea Igoren, Forleo, Cinzia, Padalino, Massimo, Resta, Nicoletta, Ciccone, Marco Matteo, Bottio, Tomaso

المساهمون: Mazzone, Federica, Giovannico, Lorenzo, Fischetti, Giuseppe, Parigino, Domenico, Guaricci, Andrea Igoren, Forleo, Cinzia, Padalino, Massimo, Resta, Nicoletta, Ciccone, Marco Matteo, Bottio, Tomaso

مصطلحات موضوعية: Cardiomiopthy, Genetic

Relation: info:eu-repo/semantics/altIdentifier/pmid/39585194; volume:38; issue:11; firstpage:1; lastpage:2; numberofpages:2; journal:CLINICAL TRANSPLANTATION; https://hdl.handle.net/11586/522461

الاتاحة: https://hdl.handle.net/11586/522461
https://doi.org/10.1111/ctr.70031

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15

Academic Journal

First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele

المؤلفون: Diana, Anna, Polizzi, Angela Maria, De Luisi, Annunziata, Pantaleo, Maria Giuseppina, Leonetti, Giuseppina, Simonetti, Simonetta, Bukvic, Nenad, Iacoviello, Matteo, Bucci, Roberta, Gentile, Mattia, Resta, Nicoletta

المساهمون: Diana, Anna, Polizzi, Angela Maria, De Luisi, Annunziata, Pantaleo, Maria Giuseppina, Leonetti, Giuseppina, Simonetti, Simonetta, Bukvic, Nenad, Iacoviello, Matteo, Bucci, Roberta, Gentile, Mattia, Resta, Nicoletta

مصطلحات موضوعية: copy number variations

Relation: info:eu-repo/semantics/altIdentifier/pmid/38320874; journal:JOURNAL OF CYSTIC FIBROSIS; https://hdl.handle.net/11586/465009; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85184030613

الاتاحة: https://hdl.handle.net/11586/465009
https://doi.org/10.1016/j.jcf.2024.01.013

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16

Academic Journal

Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

المؤلفون: Beltrami, Benedetta, Cerasani, Jacopo, Consales, Alessandra, Villa, Roberta, Resta, Nicoletta, Loconte, Daria Carmela, Boito, Simona, Caschera, Luca, Bassi, Laura, Colombo, Lorenzo, Iascone, Maria, Bedeschi, Maria Francesca

المصدر: Clinical Case Reports ; volume 10, issue 8 ; ISSN 2050-0904 2050-0904

الاتاحة: http://dx.doi.org/10.1002/ccr3.6256
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6256
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ccr3.6256

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17

Academic Journal

Intraabdominal sporadic desmoid tumors and inflammation: an updated literature review and presentation and insights on pathogenesis of synchronous sporadic mesenteric desmoid tumors occurring after surgery for necrotizing pancreatitis

المؤلفون: Prete, Francesco, Rotelli, MariaTeresa, Stella, Alessandro, Calculli, Giovanna, Sgaramella, Lucia Ilaria, Amati, Antonio, Resta, Nicoletta, Testini, Mario, Gurrado, Angela

المساهمون: Università degli Studi di Bari Aldo Moro

المصدر: Clinical and Experimental Medicine ; volume 23, issue 3, page 607-617 ; ISSN 1591-9528

الاتاحة: http://dx.doi.org/10.1007/s10238-022-00849-6
https://link.springer.com/content/pdf/10.1007/s10238-022-00849-6.pdf
https://link.springer.com/article/10.1007/s10238-022-00849-6/fulltext.html

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18

Academic Journal

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome

المؤلفون: Forde, Karina, Resta, Nicoletta, Ranieri, Carlotta, Rea, David, Kubassova, Olga, Hinton, Mark, Andrews, Katrina A, Semple, Robert, Irvine, Alan D, Dvorakova, Veronika

المساهمون: Forde, Karina, Resta, Nicoletta, Ranieri, Carlotta, Rea, David, Kubassova, Olga, Hinton, Mark, Andrews, Katrina A, Semple, Robert, Irvine, Alan D, Dvorakova, Veronika

مصطلحات موضوعية: AKT inhibitor, Miransertib, Next generation sequencing (NGS), PIK3CA-related overgrowth spectrum (PROS), Targeted treatment

Relation: info:eu-repo/semantics/altIdentifier/pmid/33639990; info:eu-repo/semantics/altIdentifier/wos/WOS:000624601700006; volume:16; issue:1; firstpage:1; lastpage:7; numberofpages:7; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11586/360537

الاتاحة: https://hdl.handle.net/11586/360537
https://doi.org/10.1186/s13023-021-01745-0

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