Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Débora R. Bertola"'
Autor:
Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100132- (2022)
Summary: Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial and intrafamili
Externí odkaz:
https://doaj.org/article/335675b4b479443ca3e74cb451032f99
Autor:
Aline D. Costa-Riquetto, Lucas S. Santana, Lílian A. Caetano, Antônio M. Lerário, Joya E. M. Correia-Deur, Débora R. Bertola, Chong A. Kim, Márcia Nery, Alexander A. L. Jorge, Milena G. Teles
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 64, Iss 5, Pp 559-566 (2020)
ABSTRACT Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated indiv
Externí odkaz:
https://doaj.org/article/f40995cb8582482dbd7b0a71bbb797e7
Autor:
Beatriz D. S. F. Bonamichi, Stella L. M. Santiago, Débora R. Bertola, Chong A. Kim, Nivaldo Alonso, Berenice B. Mendonca, Tania A. S. S. Bachega, Larissa G. Gomes
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 60, Iss 5, Pp 500-504 (2016)
SUMMARY P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH)
Externí odkaz:
https://doaj.org/article/df86afc9d68f45c9ab37d97e9ef92f6a
Publikováno v:
Clinics, Vol 62, Iss 4, Pp 531-534 (2007)
Externí odkaz:
https://doaj.org/article/d83eb1976108419183c8681d528edb4b
Autor:
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga
Publikováno v:
American Journal of Medical Genetics Part A. 191:1164-1209
ispartof: AMERICAN JOURNAL OF MEDICAL GENETICS PART A status: Published online
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5b2aee4ca9842fa7a86142459840bbe
https://doi.org/10.1002/ajmg.a.63132
https://doi.org/10.1002/ajmg.a.63132
Autor:
Taccyanna M. Ali, Bianca D. W. Linnenkamp, Guilherme L. Yamamoto, Rachel S. Honjo, Hamilton Cabral de Menezes Filho, Chong Ae Kim, Débora R. Bertola
Publikováno v:
American Journal of Medical Genetics Part A. 188:1545-1549
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1341abc479d310c30ad08d5810615297
https://doi.org/10.1002/ajmg.a.62651
https://doi.org/10.1002/ajmg.a.62651
Autor:
Rie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, Veronica Eun Hue Kim, Isabel Furquim, Rachel Sayuri Honjo, Matheus Augusto Araujo Castro, Lucas Vieira Lacerda Pires, Hiromi Aoi, Kazuhiro Iwama, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Débora R. Bertola, Chong Ae Kim, Naomichi Matsumoto
Publikováno v:
Genomics. 114(5)
Recent studies suggest that transcript isoforms significantly overlap (approximately 60%) between brain tissue and Epstein-Barr virus-transformed lymphoblastoid cell lines (LCLs). Interestingly, 14 cohesion-related genes with variants that cause Corn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7e8d8a4488dada6ca6e8da16a45a08
https://pubmed.ncbi.nlm.nih.gov/36041635
https://pubmed.ncbi.nlm.nih.gov/36041635
Autor:
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz‐Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna‐Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Publikováno v:
Human Mutation. 43
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15fd5514ce85befcf36271a353fe1db8
https://doi.org/10.1002/humu.24420
https://doi.org/10.1002/humu.24420
Autor:
Ana C. V. Krepischi, Darine Villela, Silvia Souza da Costa, Patricia C. Mazzonetto, Juliana Schauren, Michele P. Migliavacca, Fernanda Milanezi, Juliana G. Santos, Gustavo Guida, Rodrigo Guarischi-Sousa, Gustavo Campana, Fernando Kok, David Schlesinger, Joao Paulo Kitajima, Francine Campagnari, Debora R. Bertola, Angela M. Vianna-Morgante, Peter L. Pearson, Carla Rosenberg
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Chromosomal microarray analysis (CMA) has been recommended and practiced routinely since 2010 both in the USA and Europe as the first-tier cytogenetic test for patients with unexplained neurodevelopmental delay/intellectual disability, autis
Externí odkaz:
https://doaj.org/article/e717f34c0e7c4ec6bad7b53048b5a30f
Autor:
Débora R. Bertola, Jorge David A. Carneiro, Élbio Antônio D'Amico, Chong A. Kim, Lilian Maria José Albano, Sofia M.M. Sugayama, Claudette H. Gonzalez
Publikováno v:
Revista do Hospital das Clínicas, Vol 58, Iss 1, Pp 5-8 (2003)
OBJECTIVE: Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::b596216b83ec61461da07dfdcc865450
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812003000100002
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812003000100002