Zobrazeno 1 - 10 of 56 pro vyhledávání: '"Mariana F. A. Funari"'
1
Akademický článek
Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect
Autor: Renata C. Scalco, Fernanda T. Gonçalves, Hadassa C. Santos, Mari M. S. G. Cardena, Carlos A. Tonelli, Mariana F. A. Funari, Rosana M. Aracava, Alexandre C. Pereira, Cintia Fridman, Alexander A. L. Jorge
Publikováno v: Genetics and Molecular Biology, Vol 40, Iss 2, Pp 436-441 (2017)
ABSTRACT Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of t
Externí odkaz: https://doaj.org/article/d662dc41a14d4187960452232e373408
Zobrazit plný text záznamu
2
Akademický článek
Mieloma Múltiplo: 50 casos diagnosticados por citometria de fluxo Multiple Myeloma: 50 cases diagnosed by flow cytometry
Autor: Mariana F. A. Funari, João C. C. Guerra, Eurípides Ferreira, Jacyr Pasternak, Cleide L. Borovik, Ruth H. Kanayama, Sônia T. Nozawa, Cláudio E. A. Mendes, Ana C. M. Brito, Marcelo H. W. Faulhaber, Nydia S. Bacal
Publikováno v: Revista Brasileira de Hematologia e Hemoterapia, Vol 27, Iss 1, Pp 31-36 (2005)
O Mieloma Mútiplo é uma doença de evolução heterogênea, na qual a maioria dos pacientes recai muito precocemente após o tratamento. Nesse contexto, o objetivo principal deste trabalho é relatar diferentes estratégias de análise do mieloma p
Externí odkaz: https://doaj.org/article/dd8e002423ea4341bd045626a45ef71b
Zobrazit plný text záznamu
5
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study
Autor: Naiara C B, Dantas, Mariana F A, Funari, Gabriela A, Vasques, Nathalia L M, Andrade, Raíssa C, Rezende, Vinicius, Brito, Renata C, Scalco, Ivo J P, Arnhold, Berenice B, Mendonca, Alexander A L, Jorge
Publikováno v: Hormone research in paediatrics. 95(3)
Isolated SHOX haploinsufficiency is a common monogenic cause of short stature. Few studies compare untreated and rhGH-treated patients up to adult height (AH). Our study highlights a growth pattern from childhood to AH in patients with SHOX haploinsu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::22178de1ca960b8a75d58929d5ac7a78
https://pubmed.ncbi.nlm.nih.gov/35764066
Zobrazit plný text záznamu
6
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
Zobrazit plný text záznamu
7
Evaluation of SHOX defects in the era of next‐generation sequencing
Autor: Gabriela A Vasques, Mirian Yumie Nishi, Berenice B. Mendonca, Bruna L Freire, Lucas Santos de Santana, Alexander A. L. Jorge, Antonio M. Lerario, Juliana Sobral de Barros, Mariana F A Funari, Thais Kataoka Homma
Publikováno v: Clinical Genetics. 96:261-265
Short stature homeobox (SHOX) haploinsufficiency is a frequent cause of short stature. Despite advances in sequencing technologies, the identification of SHOX mutations continues to be performed using standard methods, including multiplex ligation-de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c61234085c72e4a193241c22fffb77b
https://doi.org/10.1111/cge.13587
Zobrazit plný text záznamu
8
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
Autor: Luciani R. Carvalho, Mariana F A Funari, Fernanda A. Correa, Marilena Nakaguma, Lucas Santos de Santana, Ivo J.P. Arnhold, Antonio M. Lerario, Ricardo V Perez, Martha K.P. Huayllas, Berenice B. Mendonca, Mirta Miras, Anna Flavia Figueredo Benedetti, Alexander A. L. Jorge
Publikováno v: Endocrine Connections, Vol 8, Iss 5, Pp 590-595 (2019)
Endocrine Connections
Aim Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The clinical and genetic heterogeneity of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f369e7021748b915b027973a88fc6dad
https://ec.bioscientifica.com/view/journals/ec/8/5/EC-19-0085.xml
Zobrazit plný text záznamu
9
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency
Autor: Sorahia Domenice, Mirian Yumie Nishi, Berenice B. Mendonca, Antonio M. Lerario, Xingfa Han, David Garcia-Galiano, Eveline Gadelha Pereira Fontenele, Carol F. Elias, Alexander A. L. Jorge, Mariana F A Funari, Monica M. França
Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 104:2827-2841
CONTEXT: Primary ovarian insufficiency (POI) is a cause of female infertility. However, the genetic etiology of this disorder remains unknown in most patients with POI. OBJECTIVE: To investigate the genetic etiology of idiopathic POI. PATIENTS AND ME
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07440a7fa505d32cda68194f235a5a71
https://doi.org/10.1210/jc.2018-02485
Zobrazit plný text záznamu
10
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
Autor: Rachel Sayuri Honjo, Alexander A. L. Jorge, Fernanda Viana Silva, Débora Romeo Bertola, Guilherme L. Yamamoto, Mariana F A Funari, Renata Maria de Noronha, Chong Ae Kim, Suzana Nesi-França, Michelle Bianchi de Moraes, Elisangela P S Quedas, Alexsandra C. Malaquias, Thaiana T O Souza, Thais Kataoka Homma, Julienne A. R. Carvalho
Publikováno v: Hormone Research in Paediatrics. 91:252-261
Objectives: The aim of this study was to evaluate the response to recombinant human growth hormone (rhGH) treatment in patients with Noonan syndrome (NS). Materials and Methods: Forty-two patients (35 PTPN11+) were treated with rhGH, and 17 were foll
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e3409797e7de6ec1b9617e470fc7e5c4
https://doi.org/10.1159/000500264
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje