Mariana F Funari

Mariana F A Funari

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Mariana F Funari

Mariana F A Funari

Publications by authors named "Mariana F A Funari"

24Publications

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1PubMed Central Citations

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.

Horm Res Paediatr 2019 27;91(4):252-261. Epub 2019 May 27.

Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil.

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http://dx.doi.org/10.1159/000500264DOI Listing
January 2020

Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients.

Genet Mol Biol 2020 20;42(4):e20180197. Epub 2020 Jan 20.

Universidade Federal de Minas Gerais, Faculdade de Medicina, Hospital das Clínicas, Divisão de Endocrinologia Infantil e do Adolescente, Belo Horizonte, MG, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2018-0197DOI Listing
January 2020

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

Horm Res Paediatr 2019 12;92(2):115-123. Epub 2019 Nov 12.

Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil,

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http://dx.doi.org/10.1159/000503782DOI Listing
November 2019

Evaluation of SHOX defects in the era of next-generation sequencing.

Clin Genet 2019 Sep 4;96(3):261-265. Epub 2019 Jul 4.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1111/cge.13587DOI Listing
September 2019

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.

J Clin Endocrinol Metab 2019 Jul;104(7):2827-2841

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1210/jc.2018-02485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543511PMC
July 2019

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.

J Clin Endocrinol Metab 2019 Jun;104(6):2023-2030

Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo CEP, Brazil.

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http://dx.doi.org/10.1210/jc.2018-01971DOI Listing
June 2019

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.

Endocr Connect 2019 May;8(5):590-595

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.

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http://dx.doi.org/10.1530/EC-19-0085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510710PMC
May 2019

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.

Eur J Med Genet 2019 Mar 10;62(3):186-189. Epub 2018 Jul 10.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil; Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.008DOI Listing
March 2019

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.

Sex Dev 2017 8;11(3):137-142. Epub 2017 Jun 8.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, São Paulo, Brazil.

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http://dx.doi.org/10.1159/000477193DOI Listing
April 2018

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

Eur J Med Genet 2018 Mar 10;61(3):130-133. Epub 2017 Nov 10.

Unidade de Endocrinologia Genética (LIM25) e Laboratório de Endocrinologia Celular e Molecular, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.11.003DOI Listing
March 2018

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

Genet Med 2018 01 28;20(1):91-97. Epub 2017 Jun 28.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1038/gim.2017.66DOI Listing
January 2018

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

Endocrine 2017 Dec 24;58(3):442-447. Epub 2017 Oct 24.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1007/s12020-017-1459-2DOI Listing
December 2017

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

Horm Res Paediatr 2016 2;86(5):342-348. Epub 2016 Jun 2.

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000446476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135661PMC
April 2017

The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis.

Horm Res Paediatr 2013 26;80(6):449-56. Epub 2013 Nov 26.

Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil.

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http://dx.doi.org/10.1159/000355411DOI Listing
October 2014

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.

J Clin Endocrinol Metab 2013 Oct 3;98(10):E1636-44. Epub 2013 Sep 3.

MD, PhD, Faculdade de Medicina da Universidade de Sao Paulo (LIM-25), Avenida Dr Arnaldo, 455 5° Andar Sala 5340, CEP 01246-903 Sao Paulo SP, Brazil.

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http://dx.doi.org/10.1210/jc.2013-2142DOI Listing
October 2013

Usefulness of MLPA in the detection of SHOX deletions.

Eur J Med Genet 2010 Sep-Oct;53(5):234-8. Epub 2010 Jun 9.

Unidade de Endocrinologia do Desenvolvimento, Hospital das Clinicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.ejmg.2010.06.001DOI Listing
January 2011

Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.

J Clin Endocrinol Metab 2010 Jan 19;95(1):328-32. Epub 2009 Nov 19.

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.

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http://dx.doi.org/10.1210/jc.2009-1577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805492PMC
January 2010

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].

Arq Bras Endocrinol Metabol 2008 Jul;52(5):765-73

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Faculdade de Medicina, Universidade de São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-27302008000500008DOI Listing
July 2008