المؤلفون: 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

المصدر: Genes, Vol 12, Iss 8, p 1128 (2021)

مصطلحات موضوعية: GH1, SOX3, TGIF1, hypopituitarism, allelic variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/8/1128; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/d8ff6882d7414dcfa0681cf8c0025a8a

المؤلفون: Nathalia Garcia Bianchi Pereira Ferreira

المساهمون: Luciani Renata Silveira de Carvalho, Rafael Loch Batista, Heraldo Mendes Garmes, Manuel Herminio de Aguiar Oliveira

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

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

المؤلفون: 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

المصدر: Genes
Volume 12
Issue 8
Genes, Vol 12, Iss 1128, p 1128 (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, 030209 endocrinology & metabolism, Hypopituitarism, Biology, QH426-470, Article, 03 medical and health sciences, 0302 clinical medicine, Holoprosencephaly, Anterior pituitary, medicine, Genetics, TGIF1, Missense mutation, Humans, Allele, Child, Genetics (clinical), Alleles, Homeodomain Proteins, GH1, Human Growth Hormone, SOXB1 Transcription Factors, Infant, Aplasia, medicine.disease, Penetrance, Magnetic Resonance Imaging, Pedigree, Repressor Proteins, 030104 developmental biology, medicine.anatomical_structure, Phenotype, allelic variants, hypopituitarism, Child, Preschool, Mutation, IGHD, SOX3, Female

وصف الملف: application/pdf

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

المؤلفون: 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

مصطلحات موضوعية: Genetics, allergology, medicine, Hypopituitarism, Allele, Biology, medicine.disease, Phenotype, Gene

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f641a78b3a2cdb23782768da47966b86

المؤلفون: 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

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Neuroendocrinology and Pituitary, Endocrinology, Diabetes and Metabolism, Internal medicine, medicine, Missense mutation, Biology, Hypothalamic-Pituitary Development and Function, Gene, GH Deficiency, AcademicSubjects/MED00250

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

المؤلفون: 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

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Genetics, Neuroendocrinology and Pituitary, Recessive inheritance, business.industry, Endocrinology, Diabetes and Metabolism, Medicine, Congenital hypopituitarism, Hypothalamic-Pituitary Development and Function, business, medicine.disease, Exome sequencing, AcademicSubjects/MED00250

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

المؤلفون: 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

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Cohort, Genetics and Development and Non-Steroid Hormone Signaling I, Medicine, Congenital hypopituitarism, business, medicine.disease, Gene, AcademicSubjects/MED00250, Genetics and Development (including Gene Regulation)

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