Výsledky vyhledávání - "Nathalia Garcia Bianchi Pereira Ferreira"

Investigação molecular por exoma em pacientes consanguíneos com hipopituitarismo congênito

Autor: Nathalia Garcia Bianchi Pereira Ferreira

Publikováno v: Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USP

Objetivo: O hipopituitarismo congênito é a deficiência de um ou mais hormônios hipofisários, sendo muito comum a deficiência do hormônio de crescimento (GH). Pode também ser isolado ou estar associado à deficiência de outros hormônios da h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3b0538c175b658b00df7138ab2e6af2
https://doi.org/10.11606/d.5.2021.tde-28092021-105818

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Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

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)

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://explore.openaire.eu/search/publication?articleId=doi_dedup___::d878751145231698c34a43ca273f98f0

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Allelic Variants in Established Hypopituitarism Genes Expands Our Knowledge of Phenotypic Spectrum

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

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SAT-295 An Extremely Rare Novel Missense Variant C.912G≫A; P.M304I in SOX3 Gene Is Responsible for X-Linked GH Deficiency in a Brazilian Boy Without Mental Retardation

Autor: Luciani R. Carvalho, Berenice B. Mendonca, Anna Flavia Figueredo Benedetti, Nathalia Garcia Bianchi Pereira Ferreira, Ivo J.P. Arnhold, Juliana M Silva, Isabela Peixoto Biscotto

Publikováno v: Journal of the Endocrine Society

SOX3 (SRY-related HMG-box gene 3), located in the X chromosome, spans only one exon and is expressed in the infundibulum, diencephalon and hypothalamus. Alterations in SOX3, mainly deletions or insertions in the polyalanine tract, were associated wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46cfe0c859bca5b39ce3fa3d103697cf
http://europepmc.org/articles/PMC7207679

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SAT-LB58 Molecular Investigation of Recessive Inheritance by Exome Sequencing of Patients With Congenital Hypopituitarism

Autor: Berenice B. Mendonca, Jun Li, Alexander A. L. Jorge, Ivo J.P. Arnhold, Peter Gergics, Luciani R. Carvalho, Bilge A. Ozel, Renata Kertsz, Sally A. Camper, Anna Flavia Figueredo Benedetti, Qing Fang, Nathalia Garcia Bianchi Pereira Ferreira, Joao Luiz do Oliveira Madeira, Qianyi Ma, Isabela Peixoto Biscotto

Publikováno v: Journal of the Endocrine Society

Background: Growth hormone deficiency (GHD) occurs in ~ 1/8000 individuals, and 14% of the patients have mutations in five major candidate genes. However, over 30 genes have been implicated in hypopituitarism. WES (Whole Exome Sequencing) is a promis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb2263cc1dbff4cc42392742566cf2ee
http://europepmc.org/articles/PMC7208499

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SUN-723 CDH2 Gene Analysis in a Cohort of Patients with Congenital Hypopituitarism

Autor: Nathalia Garcia Bianchi Pereira Ferreira, Bruna Azevedo, Débora Delmonte Bissegatto, Renata Kertsz, Luciani R. Carvalho, Ivo J.P. Arnhold, Alexander A. L. Jorge, Anna Flavia Figueredo Benedetti, Berenice B. Mendonca, João L o m Madeira, Sally A. Camper

Publikováno v: Journal of the Endocrine Society

Introduction: Hypopituitarism is defined as a deficiency of one or more pituitary hormones. Pathogenic allelic variants in genes implicated in pituitary development were associated in 15% of the patients with congenital hypopituitarism (CH). To impro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fc6aa92cde59d52411740c6ec2c5d04
https://doi.org/10.1210/jendso/bvaa046.1223

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