المؤلفون: Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna

المصدر: Human Mutation. 41(11):1979-1998

مصطلحات موضوعية: chromosomal inversions, nonallelic homologous recombination, nonhomologous end-joining, recombinant chromosomes, replication-based repair mechanisms, whole-genome sequencing

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-170533Test
https://liu.diva-portal.org/smash/get/diva2:1476992/FULLTEXT01.pdfTest

المؤلفون: Mazzonetto, Patricia C, Villela, Darine, Krepischi, Ana C V, Pierry, Paulo M, Bonaldi, Adriano, Almeida, Luiz Gustavo D, Paula, Marcelo G, Bürger, Matheus Carvalho, de Oliveira, Ana Gabriela, Fonseca, Gustavo G G, Giugliani, Roberto, Riegel-Giugliani, Mariluce, Bertola, Débora, Yamamoto, Guilherme Lopes, Passos-Bueno, Maria Rita, Campos, Gabriele da Silva, Machado, Ana Claudia Dantas, Mazzeu, Juliana F, Perrone, Eduardo, Zechi-Ceide, Roseli M, Kokitsu-Nakata, Nancy M, Vieira, Társis Paiva, Steiner, Carlos Eduardo, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Daniela Koeller Rodrigues, Boy, Raquel, de Pina-Neto, João Monteiro, Scapulatempo-Neto, Cristovam, Milanezi, Fernanda, Rosenberg, Carla

المصدر: Am J Med Genet A ; ISSN:1552-4833

مصطلحات موضوعية: CNV, copy number variants, cytogenetics, low‐pass whole genome sequencing, next generation sequencing (NGS), postnatal diagnosis, structural variant

العلاقة: https://doi.org/10.1002/ajmg.a.63802Test; https://pubmed.ncbi.nlm.nih.gov/38924610Test

الإتاحة: https://doi.org/10.1002/ajmg.a.63802Test
https://pubmed.ncbi.nlm.nih.gov/38924610Test

المؤلفون: Mazzonetto, Patricia C., Villela, Darine, da Costa, Silvia Souza, Krepischi, Ana C. V., Milanezi, Fernanda, Migliavacca, Michele P., Pierry, Paulo M., Bonaldi, Adriano, Almeida, Luiz Gustavo D., De Souza, Camila Alves, Kroll, José Eduardo, Paula, Marcelo G., Guarischi‐Sousa, Rodrigo, Scapulatempo‐Neto, Cristovam, Rosenberg, Carla

المصدر: Annals of Human Genetics; Mar2024, Vol. 88 Issue 2, p113-125, 13p

مصطلحات موضوعية: NUCLEOTIDE sequencing, WHOLE genome sequencing, DNA copy number variations, ROUTINE diagnostic tests, CYTOGENETICS, CHROMOSOMES

المؤلفون: Krepischi, Ana C. V., Villela, Darine, da Costa, Silvia Souza, Mazzonetto, Patricia C., Schauren, Juliana, Migliavacca, Michele P., Milanezi, Fernanda, Santos, Juliana G., Guida, Gustavo, Guarischi-Sousa, Rodrigo, Campana, Gustavo, Kok, Fernando, Schlesinger, David, Kitajima, Joao Paulo, Campagnari, Francine, Bertola, Debora R., Vianna-Morgante, Angela M., Pearson, Peter L., Rosenberg, Carla

المساهمون: Fundação de Amparo à Pesquisa do Estado de São Paulo

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-022-19274-6Test
https://www.nature.com/articles/s41598-022-19274-6.pdfTest
https://www.nature.com/articles/s41598-022-19274-6Test

المؤلفون: Andrade, Nathalia Liberatoscioli Menezes, Funari, Mariana Ferreira de Assis, Malaquias, Alexsandra Christianne, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia L R A, Scalco, Renata, Dantas, Naiara Castelo Branco, Rezende, Raissa C, Tiburcio, Angelica M F P, Souza, Micheline A R, Freire, Bruna L, Krepischi, Ana C V, Longui, Carlos Alberto, Lerario, Antonio Marcondes, Arnhold, Ivo J P, Jorge, Alexander A L, Vasques, Gabriela Andrade

المصدر: Endocrine Connections ; volume 11, issue 12 ; ISSN 2049-3614

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Internal Medicine

الإتاحة: https://doi.org/10.1530/ec-22-0214Test
https://ec.bioscientifica.com/view/journals/ec/11/12/EC-22-0214.xmlTest
https://ec.bioscientifica.com/downloadpdf/journals/ec/11/12/EC-22-0214.xmlTest

المؤلفون: Grochowski, Christopher M., Krepischi, Ana C. V., Eisfeldt, Jesper, Du, Haowei, Bertola, Debora R., Oliveira, Danyllo, Costa, Silvia S., Lupski, James R., Lindstrand, Anna, Carvalho, Claudia M. B.

المساهمون: National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke

المصدر: Frontiers in Genetics ; volume 12 ; ISSN 1664-8021

الإتاحة: https://doi.org/10.3389/fgene.2021.708348Test

المؤلفون: Quintero Escobar, Melissa, Costa, Tássia Brena Barroso Carneiro, Martins, Lucas G., Costa, Silvia S., vanHelvoort Lengert, André, Boldrini, Érica, Morini da Silva, Sandra Regina, Lopes, Luiz Fernando, Vidal, Daniel Onofre, Krepischi, Ana C. V., Maschietto, Mariana, Tasic, Ljubica

المساهمون: Fundação de Amparo à Pesquisa do Estado de São Paulo, Conselho Nacional de Desenvolvimento Científico e Tecnológico, Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

المصدر: Frontiers in Oncology ; volume 10 ; ISSN 2234-943X

مصطلحات موضوعية: Cancer Research, Oncology

الإتاحة: https://doi.org/10.3389/fonc.2020.506959Test

المؤلفون: Mazzonetto, Patricia C., Villela, Darine, da Costa, Silvia Souza, Krepischi, Ana C. V., Milanezi, Fernanda, Migliavacca, Michele P., Pierry, Paulo M., Bonaldi, Adriano, Almeida, Luiz Gustavo D., De Souza, Camila Alves, Kroll, José Eduardo, Paula, Marcelo G., Guarischi‐Sousa, Rodrigo, Scapulatempo‐Neto, Cristovam, Rosenberg, Carla

المساهمون: Fundação de Amparo à Pesquisa do Estado de São Paulo

المصدر: Annals of Human Genetics ; volume 88, issue 2, page 113-125 ; ISSN 0003-4800 1469-1809

الإتاحة: https://doi.org/10.1111/ahg.12532Test

المؤلفون: Chaves, Luiza D., Carvalho, Laura M. L., Tolezano, Giovanna C., Pires, Sara F., Costa, Silvia S., de Scliar, Marília O., Giuliani, Liane de R., Bertola, Debora R., Santos-Rebouças, Cíntia B., Seo, Go Hun, Otto, Paulo A., Rosenberg, Carla, Vianna-Morgante, Angela M., Krepischi, Ana C. V.

المساهمون: Fundação de Amparo à Pesquisa do Estado de São Paulo, Conselho Nacional de Desenvolvimento Científico e Tecnológico, Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

المصدر: Molecular Neurobiology ; volume 60, issue 7, page 3758-3769 ; ISSN 0893-7648 1559-1182

مصطلحات موضوعية: Neuroscience (miscellaneous), Cellular and Molecular Neuroscience, Neurology

الإتاحة: https://doi.org/10.1007/s12035-023-03311-0Test

المؤلفون: Andrade, Pamela V., Santos, Joilson M., Teixeira, Anne C. B., Sogari, Vanessa F., Almeida, Michelle S., Callegari, Fabiano M., Krepischi, Ana C. V., Oliveira, Acary S. B., Vainzof, Mariz, Silva, Helga C. A.

المصدر: Genes; Jul2023, Vol. 14 Issue 7, p1360, 10p

مصطلحات موضوعية: MALIGNANT hyperthermia, DERMATOMYOSITIS, SOFT tissue tumors, DUCHENNE muscular dystrophy, RHABDOMYOSARCOMA, GERM cells