المؤلفون: Lima, Ariadne R, Ferreira, Barbara M, Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J, Dawood, Moez, Lins, Tulio C, Chiabai, Marcela A, Beusekom, Ellen, Cordoba, Mara S, Rosa, Erica CC Caldas, Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M, Jorge, Alexander AL, Kim, Chong A, Honjo, Rachel, Bertola, Débora R, Dandalo‐Girardi, Raissa M, Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C, Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N, Muzny, Donna M, Regattieri, Neysa AP, Pogue, Robert, Pereira, Rinaldo W, Otto, Paulo A, Gibbs, Richard A, Ali, Bassam R, Bokhoven, Hans, Brunner, Han G, Sutton, V Reid, Lupski, James R, Vianna‐Morgante, Angela M, Carvalho, Claudia MB, Mazzeu, Juliana F

المصدر: Human Mutation. 43(7)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Pediatric, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Craniofacial Abnormalities, Dwarfism, Genes, Recessive, Humans, Limb Deformities, Congenital, Male, Phenotype, Receptor Tyrosine Kinase-like Orphan Receptors, Urogenital Abnormalities, chromosome microarray analysis, craniofacial morphology, exonic deletion, HPO terms, next-generation sequencing, quantitative phenotyping cluster heatmap, skeletal dysplasia, WNT pathway, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8bd0s4d7

المؤلفون: Otto, Paulo A.

المصدر: Genetics and Molecular Biology. January 2021 44(3)

مصطلحات موضوعية: Sex-ratio (s.r.), evolutionary stable s.r., extraordinary s.r., population genetic models

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000400602

المؤلفون: Silva, Monize V. R., de Castro, Mateus V., Passos-Bueno, Maria Rita, Otto, Paulo A., Naslavsky, Michel S., Zatz, Mayana

المساهمون: The Sao Paulo Research Foundation, National Council for Scientific and Technological Development, JBS S.A

المصدر: Discover Mental Health ; volume 2, issue 1 ; ISSN 2731-4383

الاتاحة: http://dx.doi.org/10.1007/s44192-022-00004-3
https://link.springer.com/content/pdf/10.1007/s44192-022-00004-3.pdf
https://link.springer.com/article/10.1007/s44192-022-00004-3/fulltext.html

المؤلفون: Tolezano, Giovanna Cantini, Bastos, Giovanna Civitate, da Costa, Silvia Souza, Scliar, Marília de Oliveira, de Souza, Carolina Fischinger Moura, Van Der Linden Jr, Hélio, Fernandes, Walter Luiz Magalhães, Otto, Paulo Alberto, Vianna-Morgante, Angela M., Haddad, Luciana Amaral, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Kim, Chong Ae, Rosenberg, Carla, Jorge, Alexander Augusto de Lima, Bertola, Débora Romeo, Krepischi, Ana Cristina Victorino

المصدر: Molecular Neurobiology; Aug2024, Vol. 61 Issue 8, p5230-5247, 18p

المؤلفون: Otto, Paulo A., Lemes, Renan B., Farias, Allysson A., Weller, Mathias, Lima, Shirley O. A., Albino, Victor Alves, Marques-Alves, Yanna K., Pardono, Eliete, Bocangel, Magnolia A. P., Santos, Silvana

المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-020-72366-z
https://www.nature.com/articles/s41598-020-72366-z.pdf
https://www.nature.com/articles/s41598-020-72366-z

المؤلفون: Souza, Lucas Santos, Almeida, Camila Freitas, Yamamoto, Guilherme Lopes, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, da Costa, Silvia Souza, Anequini, Isabela Pessa, do Carmo, Silvana Amanda, Wang, Jaqueline Yu Ting, Scliar, Marília de Oliveira, Castelli, Erick C., Otto, Paulo Alberto, Zanoteli, Edmar, Vainzof, Mariz

المصدر: Neurology Genetics ; volume 6, issue 5 ; ISSN 2376-7839

الاتاحة: http://dx.doi.org/10.1212/nxg.0000000000000513
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000000513

المؤلفون: Bertani-Torres, William, Lezirovitz, Karina, Alencar-Coutinho, Danillo, Pardono, Eliete, da Costa, Silvia Souza, Antunes, Larissa do Nascimento, de Oliveira, Judite, Otto, Paulo Alberto, Pingault, Véronique, Mingroni-Netto, Regina Célia

المصدر: Audiology Research; Feb2024, Vol. 14 Issue 1, p9-25, 17p

مصطلحات موضوعية: NUCLEOTIDE sequencing, HIRSCHSPRUNG'S disease, SYNDROMES, SOX transcription factors, EYE abnormalities

المؤلفون: Raices, Julia, Otto, Paulo, Vibranovski, Maria

المصدر: Raices J, Otto P, Vibranovski M. Haploid selection drives new gene male germline expression. Genome Research . 2019;29(7):1115-1122. doi: 10.1101/gr.238824.118

مصطلحات موضوعية: ddc:576

Relation: info:eu-repo/semantics/altIdentifier/wos/000473730600007; https://research-explorer.ista.ac.at/record/6658; https://research-explorer.ista.ac.at/download/6658/6670

الاتاحة: https://research-explorer.ista.ac.at/record/6658
https://research-explorer.ista.ac.at/download/6658/6670

المؤلفون: Raices, Julia B., Otto, Paulo A., Vibranovski, Maria D.

مصطلحات موضوعية: RESEARCH

وصف الملف: text/html

Relation: http://genome.cshlp.org/cgi/content/short/29/7/1115; http://dx.doi.org/10.1101/gr.238824.118

الاتاحة: http://genome.cshlp.org/cgi/content/short/29/7/1115
https://doi.org/10.1101/gr.238824.118

المؤلفون: Albertani, Felipe, Martuscelli, Paulo, Yamashita, Carlos, Otto, Paulo A., Wajntal, Anita

المصدر: Ornitología Neotropical

وصف الملف: application/pdf

Relation: https://digitalcommons.usf.edu/ornitologia_neotropical/vol11/iss4/3; https://digitalcommons.usf.edu/context/ornitologia_neotropical/article/1203/viewcontent/p0307_p0314.pdf

الاتاحة: https://digitalcommons.usf.edu/ornitologia_neotropical/vol11/iss4/3
https://digitalcommons.usf.edu/context/ornitologia_neotropical/article/1203/viewcontent/p0307_p0314.pdf

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

الاتاحة: http://dx.doi.org/10.1007/s12035-023-03311-0
https://link.springer.com/content/pdf/10.1007/s12035-023-03311-0.pdf
https://link.springer.com/article/10.1007/s12035-023-03311-0/fulltext.html

المؤلفون: D'Angelo, Carla Sustek, Varela, Monica Castro, Emilio de Castro, Claudia Irene, Otto, Paulo Alberto, Alvarez Perez, Ana Beatriz UNIFESP, Lourenco, Charles Marques, Kim, Chong Ae, Bertola, Debora Romeo, Kok, Fernando, Garcia-Alonso, Luis UNIFESP, Koiffmann, Celia Priszkulnik

مصطلحات موضوعية: Chromosomal microarray analysis (CMA), Copy number variations (CNVs), Body mass index (BMI), Intellectual and developmental disabilities (IDDs), Prader-Willi syndrome (PWS), Syndromic obesity

جغرافية الموضوع: London

وصف الملف: application/pdf

Relation: Molecular Cytogenetics; http://dx.doi.org/10.1186/s13039-018-0363-7; Molecular Cytogenetics. London, v. 11, p. -, 2018.; https://repositorio.unifesp.br/handle/11600/54142; WOS000424131800001.pdf; WOS:000424131800001

الاتاحة: https://repositorio.unifesp.br/handle/11600/54142
https://doi.org/10.1186/s13039-018-0363-7

المؤلفون: Santos, Alexsandro dos, Campagnari, Francine, Victorino Krepischi, Ana Cristina, Ribeiro Camara, Maria de Lourdes, Arruda Brasil, Rita de Cassia E. de, Vieira, Ligia, Vianna-Morgante, Angela M., Otto, Paulo A., Pearson, Peter L., Rosenberg, Carla

المساهمون: Universidade Estadual Paulista (UNESP)

مصطلحات موضوعية: telomere capture, UPD, mosaicism, SNP microarray

وصف الملف: 191-198

Relation: Chromosome Research; 1,425; http://dx.doi.org/10.1007/s10577-018-9578-z; Chromosome Research. Dordrecht: Springer, v. 26, n. 3, p. 191-198, 2018.; http://hdl.handle.net/11449/160547; WOS:000443303700007; WOS000443303700007.pdf

الاتاحة: http://hdl.handle.net/11449/160547
https://doi.org/10.1007/s10577-018-9578-z

المؤلفون: Carneiro,Thaise, Krepischi,Ana, Souza da Costa,Silvia, Tojal da Silva,Israel, Vianna-Morgante,Angela, Valieris,Renan, Ezquina,Suzana, Bertola,Debora, Otto,Paulo, Rosenberg,Carla

مصطلحات موضوعية: The Application of Clinical Genetics

وصف الملف: text/html

Relation: https://www.dovepress.com/utility-of-trio-based-exome-sequencing-in-the-elucidation-of-the-genet-peer-reviewed-fulltext-article-TACG

الاتاحة: https://www.dovepress.com/utility-of-trio-based-exome-sequencing-in-the-elucidation-of-the-genet-peer-reviewed-fulltext-article-TACG

المؤلفون: Malvezzi, João VM, H Magalhaes, Ingrid, S Costa, Silvia, Otto, Paulo A, Rosenberg, Carla, Bertola, Debora R, LM Fernandes, Walter, Vianna-Morgante, Angela M, Krepischi, Ana CV

المصدر: Human Genome Variation ; volume 5, issue 1 ; ISSN 2054-345X

الاتاحة: http://dx.doi.org/10.1038/hgv.2018.10
https://www.nature.com/articles/hgv201810.pdf
https://www.nature.com/articles/hgv201810
http://www.nature.com/articles/hgv201810

المؤلفون: Lemes, Renan B., Nunes, Kelly, Carnavalli, Juliana E. P., Kimura, Lilian, Mingroni-Netto, Regina C., Meyer, Diogo, Otto, Paulo A.

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

المصدر: PLOS ONE ; volume 13, issue 4, page e0196360 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0196360
http://dx.plos.org/10.1371/journal.pone.0196360

المؤلفون: Carneiro, Thaise, Krepischi, Ana, Souza da Costa, Silvia, Tojal da Silva, Israel, Vianna-Morgante, Angela, Valieris, Renan, Ezquina, Suzana, Bertola, Debora, Otto, Paulo, Rosenberg, Carla

المصدر: The Application of Clinical Genetics ; volume Volume 11, page 93-98 ; ISSN 1178-704X

الاتاحة: http://dx.doi.org/10.2147/tacg.s165799
https://www.dovepress.com/getfile.php?fileID=43830

المؤلفون: Bocángel, Magnolia Astrid Pretell, Melo, Uirá Souto, Alves, Leandro Ucela, Pardono, Eliete, Lourenço, Naila Cristina Vilaça, Marcolino, Humberto Vicente Cezar, Otto, Paulo Alberto, Mingroni-Netto, Regina Célia

المساهمون: FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo), CNPq (Conselho Nacional de Desenvolvimento Científico e Tecnológico), CAPES (Coordenação de Aperfeiçoamento Profissional de Nível Superior)

المصدر: European Journal of Medical Genetics ; volume 61, issue 6, page 348-354 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2018.01.012
https://api.elsevier.com/content/article/PII:S1769721217305414?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721217305414?httpAccept=text/plain

المؤلفون: Otto, Paulo A.

المصدر: Genetics and Molecular Biology, Volume: 45, Issue: 4, Article number: e20220211, Published: 17 OCT 2022

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______608::7b866dbba169584567fc3ea0f768e118
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000500201&lng=en&tlng=en

المؤلفون: Alves, Leandro Ucela, Pardono, Eliete, Otto, Paulo A., Mingroni Netto, Regina Célia

المصدر: Genetics and Molecular Biology. March 2015 38(1)

مصطلحات موضوعية: EEC syndrome, TP63-mutations, p63-associated disorders, SHFM

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100037