Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Luciana Ribeiro Montenegro"'
Autor:
Antonio Marcondes Lerario, Dipika R. Mohan, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Amanda de Moraes Narcizo, Anna Flavia Figueredo Benedetti, Sueli Mieko Oba-Shinjo, Aurélio José Vitorino, Rogério Alexandre Scripnic Xavier dos Santos, Alexander Augusto de Lima Jorge, Luiz Fernando Onuchic, Suely Kazue Nagahashi Marie, Berenice Bilharinho Mendonca
Publikováno v:
Clinics, Vol 75 (2020)
OBJECTIVES: High-throughput sequencing of genomes, exomes, and disease-focused gene panels is becoming increasingly common for molecular diagnostics. However, identifying a single clinically relevant pathogenic variant among thousands of genetic poly
Externí odkaz:
https://doaj.org/article/a3a74911a39240788ce158a7327501af
Autor:
Marilena Nakaguma, Nathalia Garcia Bianchi Pereira Ferreira, Anna Flavia Figueredo Benedetti, Mariana Cotarelli Madi, Juliana Moreira Silva, Jun Z. Li, Qianyi Ma, Ayse Bilge Ozel, Qing Fang, Amanda de Moraes Narcizo, Laís Cavalca Cardoso, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Ivo Jorge Prado Arnhold, Alexander Augusto de Lima Jorge, Berenice Bilharinho de Mendonca, Sally Ann Camper, Luciani R. Carvalho
Publikováno v:
Genes, Vol 12, Iss 8, p 1128 (2021)
We report four allelic variants (three novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, GH1 c.171delT (p.Phe 57Leufs*43), was found in a male patie
Externí odkaz:
https://doaj.org/article/d8ff6882d7414dcfa0681cf8c0025a8a
Autor:
Luciana Ribeiro Montenegro
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.
Introdução: Crianças nascidas pequenas para a idade gestacional (PIG) apresentam maior risco de permanecerem com baixa estatura na vida adulta. Os fatores de crescimento insulino-símile tipo 1 e 2 (IGF-1 e IGF-2) são os principais fatores endóc
Autor:
Helena Panteliou Lima-Valassi, Luciana Ribeiro Montenegro, Berenice B. Mendonca, Madson Q. Almeida, Maria Candida Barisson Villares Fragoso, Chin Jia Lin, Antonio M. Lerario
Publikováno v:
Hormone and Metabolic Research. 53:124-131
3-Hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) is the rate-limiting enzyme of the mevalonate pathway, which generates cholesterol and non-sterol compounds such as isoprenoid, which are involved in key steps of tumorigenesis such as cell grow
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
Autor:
Raquel Corripio, José I Labarta, Lourdes Travieso-Suárez, Ana Pinheiro Machado Canton, Leandro Soriano-Guillén, Jesús Argente, Maira Piovesan, Vinicius Nahime Brito, Ana Claudia Latronico, Carlos Eduardo Seraphim, Vicente Barrios, Luciana Ribeiro Montenegro, Álvaro Martín-Rivada
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 105:3165-3172
Background Central precocious puberty (CPP) has been associated with loss-of-function mutations in 2 paternally expressed genes (MKRN3 and DLK1). Rare defects in the DLk1 were also associated with poor metabolic phenotype at adulthood. Objective Our
Autor:
Thijs van der Wal, Yujin Hoshida, Luciana Ribeiro Montenegro, Vera Kim, M. Y. Nishi, Suzane Kioko Ono, Flair José Carrilho
Publikováno v:
Pharmacogenomics
Background & aim: Genetic variability in drug absorption, distribution, metabolism and excretion (ADME) genes contributes to the high heterogeneity of drug responses. The present study investigated polymorphisms of ADME genes frequencies and compared
Autor:
M. Gryngarten, Seraphim Ce, Ortiz-Cabrera Nv, Macedo Db, Ana Paula Abreu, Cunha M, A. C. Latronico, Piovesan Mr, Travieso-Suarez L, Carolina Ramos, V. N. Brito, Soriano-Guillen L, Argente J, de Castro Leal A, Labarta Ji, Antonini, Ursula B. Kaiser, Luciana Ribeiro Montenegro, B. B. Mendonca, Arcari Aj, Escribano Munoz A, Canton Apm, Corripio R, Guimaraes A, Gagliardi Pc, Benedetti Aff
Publikováno v:
Yearbook of Paediatric Endocrinology.
Autor:
Juliana Moreira Silva, Amanda de Moraes Narcizo, Anna Flavia Figueredo Benedetti, Alexander A. L. Jorge, Luciani R. Carvalho, Nathalia Garcia Bianchi Pereira Ferreira, Ivo J.P. Arnhold, Qing Fang, Mariana Cotarelli Madi, Mirian Yumie Nishi, Berenice B. Mendonca, Marilena Nakaguma, Ayse Bilge Ozel, Luciana Ribeiro Montenegro, Lais Cavalca Cardoso, Mariana F A Funari, Sally A. Camper, Jun Li, Qianyi Ma
Publikováno v:
Genes
Volume 12
Issue 8
Genes, Vol 12, Iss 1128, p 1128 (2021)
Volume 12
Issue 8
Genes, Vol 12, Iss 1128, p 1128 (2021)
We report four allelic variants (three novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, GH1 c.171delT (p.Phe 57Leufs*43), was found in a male patie
Autor:
Qianyi Ma, Sally A. Camper, Lais Cavalca Cardoso, Mirian Yumie Nishi, Alexander A. L. Jorge, Ivo J.P. Arnhold, Luciani R. Carvalho, Amanda de Moraes Narcizo, A. Blige Ozel, Berenice B. Mendonca, Qing Fang, Mariana Cotarelli Madi, Nathalia Garcia Bianchi Pereira Ferreira, Juliana Moreira Silva, Luciana Ribeiro Montenegro, Marilena Nakaguma, Mariana F A Funari, Anna Flavia Figueredo Benedetti, Jun Li
We report four allelic variants (3 novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, GH1 c.171delT (p. Phe 57Leufs * 43), was found in a male patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f641a78b3a2cdb23782768da47966b86