Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Mirian Y, Nishi"'
Autor:
Jéssica Mallmann Erbes Schaefer Martins, Barbara Leitao Braga, Klevia Nunes Feitosa Sampaio, Tamires de Souza Garcia, Juliana Van de Sande Lee, Edson Cechinel, Genoir Simoni, Marilza Leal Nascimento, Paulo Cesar Alves da Silva, Maria C. V. Fragoso, Tania A. A. S. Bachega, Mirian Y. Nishi, Berenice B. Mendonca
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 68 (2024)
SUMMARY Beckwith-Wiedemann syndrome (BWS) is a common genetic congenital disease characterized by somatic overgrowth and its broad clinical spectrum includes pre- and post-natal macrosomia, macroglossia, visceromegaly, increased risk of neonatal hypo
Externí odkaz:
https://doaj.org/article/53542a5606084650927adb2dcee6a9e7
Autor:
Renata C Scalco, Ericka B Trarbach, Edoarda V A Albuquerque, Thais K Homma, Thais H Inoue-Lima, Mirian Y Nishi, Berenice B Mendonca, Alexander A L Jorge
Publikováno v:
Endocrine Connections, Vol 8, Iss 11, Pp 1513-1519 (2019)
Most patients with Turner syndrome (TS) need hormone replacement therapy because of hypergonadotropic hypogonadism; individual outcomes, however, are highly variable. Our objective was to assess the influence of five estrogen recept or 1 gene (ESR1)
Externí odkaz:
https://doaj.org/article/b9f192b6f04846c2b4f2a7d8a3c6d9d8
Autor:
Fernanda A. Correa, Marilena Nakaguma, João L. O. Madeira, Mirian Y. Nishi, Milena G. Abrão, Alexander A. L. Jorge, Luciani R. Carvalho, Ivo J. P. Arnhold, Berenice B. Mendonça
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 63, Iss 2, Pp 167-174 (2019)
ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized t
Externí odkaz:
https://doaj.org/article/e0e1cc0d95ea4c57a355fb956a500abd
Autor:
Monica M França, Mariana F A Funari, Antonio M Lerario, Mariza G Santos, Mirian Y Nishi, Sorahia Domenice, Daniela R Moraes, Everlayny F Costalonga, Gustavo A R Maciel, Andrea T Maciel-Guerra, Gil Guerra-Junior, Berenice B Mendonca
Publikováno v:
PLoS ONE, Vol 15, Iss 10, p e0240795 (2020)
Primary ovarian insufficiency (POI) is a heterogeneous disorder associated with several genes. The majority of cases are still unsolved. Our aim was to identify the molecular diagnosis of a Brazilian cohort with POI. Genetic analysis was performed us
Externí odkaz:
https://doaj.org/article/a57d126b46c242668dad6a4dabe87b88
Autor:
Amanda M. Narcizo, Lais C. Cardoso, Anna F.F. Benedetti, Alexander A.L. Jorge, Mariana F.A. Funari, Barbara L. Braga, Monica M. Franca, Luciana R. Montenegro, Antonio M. Lerario, Mirian Y. Nishi, Berenice B. Mendonca
Publikováno v:
Clinics, Volume: 77, Article number: 100132, Published: 09 DEC 2022
Objectives To analyze the efficiency of a multigenic targeted massively parallel sequencing panel related to endocrine disorders for molecular diagnosis of patients assisted in a tertiary hospital involved in the training of medical faculty. Material
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0cca1b8063c0d969ae7dba8887ec5fc
https://pubmed.ncbi.nlm.nih.gov/36288632
https://pubmed.ncbi.nlm.nih.gov/36288632
Autor:
Raiane P Crespo, Thais P Rocha, Luciana R Montenegro, Mirian Y Nishi, Alexander A L Jorge, Gustavo A R Maciel, Edmund Baracat, Ana Claudia Latronico, Berenice B Mendonca, Larissa G Gomes
Publikováno v:
Journal of the Endocrine Society. 6(9)
Context Polycystic ovary syndrome (PCOS) etiology remains to be elucidated, but familial clustering and twin studies have shown a strong heritable component. Objective The purpose of this study was to identify rare genetic variants that are associate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de633c83d8163dd98b6d1d779d18c88
https://pubmed.ncbi.nlm.nih.gov/35898701
https://pubmed.ncbi.nlm.nih.gov/35898701
Autor:
Nathalia Lisboa Gomes, Rafael Loch Batista, Mirian Y Nishi, Antônio Marcondes Lerário, Thatiana E Silva, Amanda de Moraes Narcizo, Anna Flávia Figueredo Benedetti, Mariana Ferreira de Assis Funari, José Antônio Faria Junior, Daniela Rodrigues Moraes, Lia Mesquita Lousada Quintão, Luciana Ribeiro Montenegro, Maria Teresa Martins Ferrari, Alexander A Jorge, Ivo J P Arnhold, Elaine Maria Frade Costa, Sorahia Domenice, Berenice Bilharinho Mendonca
Publikováno v:
The Journal of clinical endocrinology and metabolism. 107(5)
Context Massively parallel sequencing (MPS) technologies have emerged as a first-tier approach for diagnosing several pediatric genetic syndromes. However, MPS has not been systematically integrated into the diagnostic workflow along with clinical/bi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47f3fa3672563f496f4634f939d0bc8c
https://pubmed.ncbi.nlm.nih.gov/35254448
https://pubmed.ncbi.nlm.nih.gov/35254448
Autor:
null Mariana F.A. Funari, null Juliana S. de Barros, null Lucas S. Santana, null Antonio M. Lerario, null Bruna L. Freire, null Thais K. Homma, null Gabriela A. Vasques, null Berenice B. Mendonca, null Mirian Y. Nishi, null Alexander A.L. Jorge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e62ffb79f4c74b96b68a895ef1ebe4d
https://doi.org/10.1111/cge.13587/v3/response1
https://doi.org/10.1111/cge.13587/v3/response1
Autor:
Antonio Lerario, Thais Kataoka Homma, Mirian Y. Nishi, Gabriela A Vasques, Bruna L Freire, Lucas Santos de Santana, Berenice B Mendonca, Mariana F A Funari, Alexander Jorge, Juliana Sobral de Barros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17cacb8201b2b259501eeaf7077eca16
https://doi.org/10.1111/cge.13587/v2/response1
https://doi.org/10.1111/cge.13587/v2/response1
Autor:
Filomena Marino Carvalho, Catherine E. Keegan, Luciani R. Carvalho, Hayk Barseghyan, Rod T. Mitchell, Leila Cristina Pedroso de Paula, Regina Papazian, Eric Vilain, Thatiana Evilen da Silva, Eduardo Corrêa Costa, Elaine Maria Frade Costa, Felipe Martins Elias, Sorahia Domenice, Nathalia Lisboa Gomes, Mirian Y. Nishi, Alexander A. L. Jorge, Berenice B. Mendonca, Alejandro Martinez-Aguayo, Maria Veronica Forclaz, Antonio M. Lerario
Publikováno v:
Evilen Da Silva, T, Gomes, N L, Lerário, A M, Keegan, C E, Nishi, M Y, Carvalho, F M, Vilain, E, Barseghyanm, H, Martinez-aguayo, A, Forclaz, M V, Papazian, R, Pedroso De Paula, L C, Costa, E C, Carvalho, L R, Jorge, A A, Elias, F, Mitchell, R, Frade Costa, E M, Mendonca, B B & Domenice, S 2019, ' Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum ', Journal of Clinical Endocrinology & Metabolism . https://doi.org/10.1210/jc.2019-00984
Context46,XY Gonadal dysgenesis (GD) is a heterogeneous group of disorders with a wide phenotypic spectrum, including embryonic testicular regression syndrome (ETRS).ObjectiveTo report a gene for 46,XY GD etiology, especially for ETRS.DesignScreening
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc0e74f845bd52fbf150f50d266351d
https://pubmed.ncbi.nlm.nih.gov/31287541
https://pubmed.ncbi.nlm.nih.gov/31287541