Alexander A L Jorge

Alexander A L Jorge

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Alexander A L Jorge

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Response to Letter to the Editor: "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy".

J Clin Endocrinol Metab 2019 Nov;104(11):5118-5119

Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1210/jc.2019-01428DOI Listing
November 2019

Targeted sequencing identifies novel variants in common and rare MODY genes.

Mol Genet Genomic Med 2019 Oct 8:e962. Epub 2019 Oct 8.

Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.1002/mgg3.962DOI Listing
October 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

[PROVISIONAL] Growth Hormone Insensitivity (Laron syndrome): report of a new family and review of Brazilian patients.

Genet Mol Biol 2019 Aug 12. Epub 2019 Aug 12.

Hospital das Clínicas, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Minas Gerais, Brazil.

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

DLK1 Is a Novel Link Between Reproduction and Metabolism.

J Clin Endocrinol Metab 2019 Jun;104(6):2112-2120

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

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http://dx.doi.org/10.1210/jc.2018-02010DOI Listing
June 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

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.

Arch Endocrinol Metab 2019 May;63(2):167-174

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.

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http://dx.doi.org/10.20945/2359-3997000000139DOI Listing
May 2019

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
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

Growth hormone therapy in children; research and practice - A review.

Growth Horm IGF Res 2019 02 26;44:20-32. Epub 2018 Dec 26.

New York University Winthrop Hospital, 101 Mineola Boulevard, Mineola, NY 11201, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10966374183008
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http://dx.doi.org/10.1016/j.ghir.2018.12.004DOI Listing
February 2019

IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children.

J Pediatr Endocrinol Metab 2019 Feb;32(2):173-179

Unidade de Endocrinologia Genetica (LIM/25), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Faculdade de Medicina da USP (LIM-25), Av. Dr. Arnaldo, 455 5° andar sala 5340, CEP 01246-903 Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.1515/jpem-2018-0435DOI Listing
February 2019

Genetic causes of isolated short stature.

Arch Endocrinol Metab 2019 Feb;63(1):70-78

Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brasil.

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http://dx.doi.org/10.20945/2359-3997000000105DOI Listing
February 2019

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.

Neuroendocrinology 2018 15;107(2):127-132. Epub 2018 May 15.

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/10.1159/000490059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363361PMC
January 2019

Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.

Genet Med 2019 01 30;21(1):260. Epub 2018 Jun 30.

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/10.1038/s41436-018-0041-5DOI Listing
January 2019

Novel SUZ12 mutations in Weaver-like syndrome.

Clin Genet 2018 11 6;94(5):461-466. Epub 2018 Aug 6.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://doi.wiley.com/10.1111/cge.13415
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http://dx.doi.org/10.1111/cge.13415DOI Listing
November 2018

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.

Horm Res Paediatr 2018 9;89(1):13-21. Epub 2017 Nov 9.

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/10.1159/000481777DOI Listing
October 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

Genetic short stature.

Growth Horm IGF Res 2018 02 6;38:29-33. Epub 2017 Dec 6.

Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ghir.2017.12.003DOI Listing
February 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

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

Arch Endocrinol Metab 2017 Dec;61(6):633-636

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 (HCFMUSP), São Paulo, SP Brasil.

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http://dx.doi.org/10.1590/2359-3997000000311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806044PMC
December 2017

MANAGEMENT OF ENDOCRINE DISEASE: Diagnostic and therapeutic approach of tall stature.

Eur J Endocrinol 2017 Jun 8;176(6):R339-R353. Epub 2017 Mar 8.

Unidade de Endocrinologia GenéticaLaboratório de Endocrinologia Celular e Molecular (LIM/25), Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1530/EJE-16-1054DOI Listing
June 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

Partial correction of the dwarf phenotype by non-viral transfer of the growth hormone gene in mice: Treatment age is critical.

Growth Horm IGF Res 2016 Feb 2;26:1-7. Epub 2015 Dec 2.

Biotechnology Center, Instituto de Pesquisas Energéticas e Nucleares (IPEN-CNEN), Cidade Universitária, São Paulo, SP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ghir.2015.12.001DOI Listing
February 2016

Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly.

Pituitary 2015 Oct;18(5):666-73

Neuroendocrine Unit, Hospital das Clinicas, University of São Paulo Medical School, Av Dr Eneas de Carvalho Aguiar, 155, PAMB, 8 andar, São Paulo, SP, CEP: 05403-010, Brazil,

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http://dx.doi.org/10.1007/s11102-014-0629-yDOI Listing
October 2015

STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.

Eur J Endocrinol 2015 Sep 1;173(3):291-6. Epub 2015 Jun 1.

Unidade de Endocrinologia GeneticaLaboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Avenida Dr Arnaldo, 455 5° Andar Sala 5340, 01246-903 Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyCincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USACentro de Investigaciones Endocrinológicas 'Dr César Bergadá' (CEDIE)CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425EFD Buenos Aires, ArgentinaEndocrine ServiceHospital de Pediatria Garrahan, Ciudad Autonoma de Buenos Aires Pozos 1881, 1245 Buenos Aires, ArgentinaDivision of EndocrinologyDepartment of Medicine, Leiden University Medical Center, 2300 RC Leiden, The NetherlandsUniversidade do Extremo Sul Catarinense88806-000 Criciúma, Santa Catarina, BrazilDepartment of PediatricsLeiden University Medical Center, 2300 RC Leiden, The NetherlandsDepartment of PediatricsOregon Health and Science University, Portland, Oregon 97239, USA

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http://dx.doi.org/10.1530/EJE-15-0398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898761PMC
September 2015

Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center.

Pituitary 2015 Aug;18(4):561-7

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42 do Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo (HC da FMUSP), Disciplina de Endocrinologia, Universidade de Sao Paulo, São Paulo, 05403-900, Brazil.

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http://dx.doi.org/10.1007/s11102-014-0610-9DOI Listing
August 2015

Role of the natriuretic peptide system in normal growth and growth disorders.

Horm Res Paediatr 2014 3;82(4):222-9. Epub 2014 Sep 3.

Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM-25, Universidade de São Paulo, São Paulo, Brazil.

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https://www.karger.com/Article/FullText/365049
Publisher Site
http://dx.doi.org/10.1159/000365049DOI Listing
June 2015

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.

Endocr Connect 2015 Jun 10;4(2):100-7. Epub 2015 Mar 10.

Unidade de Endocrinologia do DesenvolvimentoLaboratório de Hormônios e Genética Molecular LIM42Unidade de Endocrinologia GenéticaLaboratório de Endocrinologia Celular e Molecular LIM25, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, Av. Dr. Eneas de Carvalho Aguiar, 255, 05403-000 São Paulo, BrazilCentre Hospitalier Universitaire Vaudois (CHUV)Faculté de Biologie et Médecine de l'Univesité de Lausanne, Lausanne, SwitzerlandDivision of EndocrinologyDiabetes, and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1530/EC-15-0015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401104PMC
June 2015

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

J Med Genet 2015 Jun 20;52(6):413-21. Epub 2015 Mar 20.

Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo, São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1136/jmedgenet-2015-103018DOI Listing
June 2015

Role of GLI2 in hypopituitarism phenotype.

J Mol Endocrinol 2015 Jun 15;54(3):R141-50. Epub 2015 Apr 15.

Divisão de EndocrinologiaUnidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Hospital das Clinicas da FMUSP, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Avenida Eneas de Carvalho Aguiar, 155, Prédio dos Ambulatórios, 8° andar, Bloco 3, CEP 05403-900 Sao Paulo, BrazilUnidade de Endocrinologia GeneticaLaboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, 01246-903 Sao Paulo, Brazil.

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http://dx.doi.org/10.1530/JME-15-0009DOI Listing
June 2015

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.

Am J Med Genet A 2015 Apr 3;167A(4):894-901. Epub 2015 Mar 3.

Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.36954DOI Listing
April 2015

Further evidence of the importance of RIT1 in Noonan syndrome.

Am J Med Genet A 2014 Nov 13;164A(11):2952-7. Epub 2014 Aug 13.

Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo/SP, Brazil; Instituto de Biociências, Universidade de São Paulo, São Paulo/SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.36722DOI Listing
November 2014

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

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.

Growth Horm IGF Res 2014 Oct 30;24(5):180-6. Epub 2014 Jul 30.

Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, 01246-903 Sao Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ghir.2014.07.001DOI Listing
October 2014

Genetic predictors of long-term response to growth hormone (GH) therapy in children with GH deficiency and Turner syndrome: the influence of a SOCS2 polymorphism.

J Clin Endocrinol Metab 2014 Sep 6;99(9):E1808-13. Epub 2014 Jun 6.

Unidade de Endocrinologia Genetica (A.F.B., E.B.T., R.C.S., A.C.M., A.A.L.J.), Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina, Universidade de Sao Paulo, 01246-903 Sao Paulo, Brazil; Unidade de Endocrinologia do Desenvolvimento (A.F.B., E.F.C., R.C.S., A.C.M., B.C.M., I.J.P.A., A.A.L.J.), Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de Sao Paulo, 05403-900 Sao Paulo, Brazil; Departamento de Pediatria (G.G.-J.), Universidade Estadual de Campinas, 13083-100 Campinas, Brazil; and Departamento de Puericultura e Pediatria (S.R.R.A.), Faculdade de Medicina de Ribeirao Preto, Universidade de São Paulo, 14040-900 Ribeirao Preto, Brazil.

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http://dx.doi.org/10.1210/jc.2014-1744DOI Listing
September 2014

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

Fertil Steril 2014 Sep 10;102(3):838-846.e2. Epub 2014 Jul 10.

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

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http://dx.doi.org/10.1016/j.fertnstert.2014.05.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149947PMC
September 2014

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

Eur J Endocrinol 2014 Aug 30;171(2):253-62. Epub 2014 May 30.

Unidade de Endocrinologia GeneticaLaboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Av. Dr. Arnaldo, 455 5° Andar Sala 5340, CEP 01246-903 Sao Paulo, BrazilDepartamento de Genetica e Biologia EvolutivaInstituto de Biociencias da Universidade de Sao Paulo, 05508-900 Sao Paulo, BrazilUnidade de GeneticaInstituto da Crianca, Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, BrazilUnidade de Endocrinologia do DesenvolvimentoLaboratorio de Hormonios e Genetica Molecular LIM/42 do Hospital das Clinicas, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, 05403-900 Sao Paulo, Brazil

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http://dx.doi.org/10.1530/EJE-14-0232DOI Listing
August 2014

Tegumentary manifestations of Noonan and Noonan-related syndromes.

Clinics (Sao Paulo) 2013 ;68(8):1079-83

Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São PauloSP, Brazil.

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http://dx.doi.org/10.6061/clinics/2013(08)03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3752636PMC
May 2014

The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Am J Med Genet A 2014 May 24;164A(5):1204-8. Epub 2014 Mar 24.

Laboratório de Imunohematologia e Hematologia Forense (LIM40), Departamento de Medicina Legal, Ética Médica e Medicina Social e do Trabalho, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://repositorio.uchile.cl/bitstream/handle/2250/129559/Th
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http://doi.wiley.com/10.1002/ajmg.a.36444
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36444DOI Listing
May 2014

A novel homologous model for gene therapy of dwarfism by non-viral transfer of the mouse growth hormone gene into immunocompetent dwarf mice.

Curr Gene Ther 2014 Feb;14(1):44-51

Biotechnology Center, IPENCNEN, Avenida Professor Lineu Prestes 2242, Cidade Universitaria, 05508- 000, Sao Paulo, SP, Brazil.

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February 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

[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].

Arq Bras Endocrinol Metabol 2013 Jul;57(5):333-8

Unidade de Endocrinologia Genética, LIM-25, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil

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http://dx.doi.org/10.1590/s0004-27302013000500001DOI Listing
July 2013

Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age.

Clinics (Sao Paulo) 2013 Jun;68(6):785-91

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormonios e Genetica Molecular LIM/42, São Paulo/SP, Brazil.

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http://dx.doi.org/10.6061/clinics/2013(06)10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674288PMC
June 2013

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.

Horm Res Paediatr 2012 10;78(3):165-72. Epub 2012 Oct 10.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular, São Paulo, Brazil.

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http://dx.doi.org/10.1159/000342760DOI Listing
May 2013

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

Clin Endocrinol (Oxf) 2013 Apr;78(4):551-7

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, Sao Paulo, Brazil.

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http://dx.doi.org/10.1111/cen.12044DOI Listing
April 2013

Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp).

Clin Endocrinol (Oxf) 2013 Apr;78(4):558-63

Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil

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http://dx.doi.org/10.1111/cen.12048DOI Listing
April 2013

Growth responses following a single intra-muscular hGH plasmid administration compared to daily injections of hGH in dwarf mice.

Curr Gene Ther 2012 Dec;12(6):437-43

Biotechnology Department, National Nuclear Energy Commission (IPEN-CNEN), Cidade Universitaria, São Paulo, SP, Brazil.

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December 2012

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.

Am J Med Genet A 2012 Nov 6;158A(11):2700-6. Epub 2012 Aug 6.

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

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http://dx.doi.org/10.1002/ajmg.a.35519DOI Listing
November 2012

Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.

Arq Bras Endocrinol Metabol 2012 Nov;56(8):519-24

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

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http://www.scielo.br/pdf/abem/v56n8/10.pdf
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http://dx.doi.org/10.1590/s0004-27302012000800010DOI Listing
November 2012

Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Clinics (Sao Paulo) 2011 ;66(8):1361-6

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3161212PMC
http://dx.doi.org/10.1590/s1807-59322011000800009DOI Listing
June 2012

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.

Am J Med Genet A 2012 May 9;158A(5):1077-82. Epub 2012 Apr 9.

Genetics Unit, Instituto da Criança - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo - SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.35290DOI Listing
May 2012

The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome.

J Clin Endocrinol Metab 2012 Apr 25;97(4):E671-7. Epub 2012 Jan 25.

Faculdade de Medicina da Universidade de Sao Paulo, (LIM-25), Avenida Dr. Arnaldo, 455 5 degree andar sala 5340, CEP 01246-903 São Paulo-SP, Brazil.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2011-2521DOI Listing
April 2012

Frequency of genetic polymorphisms of PXR gene in the Brazilian population.

Clinics (Sao Paulo) 2011 ;66(6):1041-4

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129971PMC
http://dx.doi.org/10.1590/s1807-59322011000600020DOI Listing
March 2012

Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11.

Eur J Endocrinol 2012 Mar 14;166(3):543-50. Epub 2011 Dec 14.

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Faculdade de Medicina da USP, LIM-25, Disciplina de Endocrinologia, Hospital das Clinicas, São Paulo, Brazil.

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http://dx.doi.org/10.1530/EJE-11-0964DOI Listing
March 2012

Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.

J Clin Endocrinol Metab 2011 Sep 29;96(9):E1457-60. Epub 2011 Jun 29.

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular, LIM/42, Disciplina de Endocrinologia, Hospital das Clinicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-900, Brazil.

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http://dx.doi.org/10.1210/jc.2011-0170DOI Listing
September 2011

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

Eur J Endocrinol 2011 Aug 6;165(2):233-41. Epub 2011 Jun 6.

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genética Molecular (LIM/42), Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo 05403-000, Brazil.

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http://dx.doi.org/10.1530/EJE-11-0168DOI Listing
August 2011

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

Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.

Pediatr Endocrinol Rev 2010 Dec;8(2):79-85

Faculdade de Medicina da Universidade de Sao Paulo, São Paulo, SP, Brazil.

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December 2010

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

J Clin Endocrinol Metab 2010 Nov 4;95(11):E384-91. Epub 2010 Aug 4.

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 São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1210/jc.2010-1050DOI Listing
November 2010

Bringing endocrine basic science and physician investigators together.

Arq Bras Endocrinol Metabol 2010 Nov;54(8):671-2

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http://dx.doi.org/10.1590/s0004-27302010000800001DOI Listing
November 2010

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

Arq Bras Endocrinol Metabol 2010 Nov;54(8):717-22

Genetics Unit, Children’s Institute, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-27302010000800009DOI Listing
November 2010

A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings.

Eur J Endocrinol 2010 Aug 10;163(2):349-55. Epub 2010 Jun 10.

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

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http://dx.doi.org/10.1530/EJE-10-0272DOI Listing
August 2010

Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.

J Clin Endocrinol Metab 2010 Mar 15;95(3):1458-62. Epub 2010 Jan 15.

Unidade de Endocrinologia do Desenvolvimento e Laboratório de Hormônios e Genética Molecular (Laboratório de Investigação Médica 42), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155, 20 andar Bloco 6, 05403-900 São Paulo, SP, Brasil.

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http://dx.doi.org/10.1210/jc.2009-2040DOI Listing
March 2010

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

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

Horm Res 2009 4;71(4):185-93. Epub 2009 Mar 4.

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1159/000201106DOI Listing
June 2009

Abnormal growth in noonan syndrome: the challenge of optimal therapy.

Pediatr Endocrinol Rev 2009 Jun;6 Suppl 4:523-8

Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK.

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June 2009

Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment.

Horm Res 2009 Apr 29;71 Suppl 2:55-63. Epub 2009 Apr 29.

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. or

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http://dx.doi.org/10.1159/000192438DOI Listing
April 2009

The -202 A allele of insulin-like growth factor binding protein-3 (IGFBP3) promoter polymorphism is associated with higher IGFBP-3 serum levels and better growth response to growth hormone treatment in patients with severe growth hormone deficiency.

J Clin Endocrinol Metab 2009 Feb 4;94(2):588-95. Epub 2008 Nov 4.

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Faculdade de Medicina da Universidade de Sao Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1210/jc.2008-1608DOI Listing
February 2009

[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].

Arq Bras Endocrinol Metabol 2008 Nov;52(8):1264-71

Hospital Agamenon Magalhães, Sistema Unico de Saúde, Universidade de Pernambuco, Recife, PE, Brasil.

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http://dx.doi.org/10.1590/s0004-27302008000800010DOI Listing
November 2008

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

Clin Endocrinol (Oxf) 2008 Sep 10;69(3):426-31. Epub 2008 Mar 10.

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil.

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http://dx.doi.org/10.1111/j.1365-2265.2008.03234.xDOI Listing
September 2008

[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

[Noonan syndrome: from phenotype to growth hormone therapy].

Arq Bras Endocrinol Metabol 2008 Jul;52(5):800-8

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/s0004-27302008000500012DOI Listing
July 2008

[Mathematical models for predicting growth responses to growth hormone replacement therapy].

Arq Bras Endocrinol Metabol 2008 Jul;52(5):839-49

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

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http://dx.doi.org/10.1590/s0004-27302008000500016DOI Listing
July 2008

Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment.

J Clin Endocrinol Metab 2007 Dec 25;92(12):4889-92. Epub 2007 Sep 25.

Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia do Desenvolvimento, 05403-900 Sao Paulo, Brazil.

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http://dx.doi.org/10.1210/jc.2007-1661DOI Listing
December 2007

Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature.

Clin Endocrinol (Oxf) 2007 Oct 7;67(4):500-4. Epub 2007 Jun 7.

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, Brazil.

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http://dx.doi.org/10.1111/j.1365-2265.2007.02915.xDOI Listing
October 2007

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

Arq Bras Endocrinol Metabol 2007 Apr;51(3):450-6

Laboratório de Hormônios e Genética Molecular, Disciplina de Endocrinologia do Departamento de Clínica Médica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, SP, Brasil.

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http://dx.doi.org/10.1590/s0004-27302007000300014DOI Listing
April 2007

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.

Clin Endocrinol (Oxf) 2007 Jan;66(1):130-5

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Hospital das Clinicas, SP, Brazil.

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http://dx.doi.org/10.1111/j.1365-2265.2006.02698.xDOI Listing
January 2007

Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency.

J Clin Endocrinol Metab 2006 Mar 15;91(3):1076-80. Epub 2005 Nov 15.

Hospital das Clinicas, Laboratorio de Hormonios, Avenida Dr Eneas de Carvalho Aguiar 155 PAMB, 2 andar Bloco 6, 05403-900, São Paulo, Brazil.

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http://dx.doi.org/10.1210/jc.2005-2005DOI Listing
March 2006

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

J Clin Endocrinol Metab 2005 Sep 14;90(9):5156-60. Epub 2005 Jun 14.

Hospital das Clinicas, Labaratorio de Hormonios, Avenue Dr. Eneas de Carvalho Aguiar 155 PAMB, 2 Andar Bloco 6, 05403-900 Sao Paulo, Brazil.

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http://dx.doi.org/10.1210/jc.2004-2559DOI Listing
September 2005

The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.

Clin Endocrinol (Oxf) 2004 Jan;60(1):36-40

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Hospital das Clinicas, Sao Paulo, Brazil.

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http://dx.doi.org/10.1111/j.1365-2265.2004.01930.xDOI Listing
January 2004

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

J Clin Endocrinol Metab 2002 Nov;87(11):5076-84

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Av. Eneas de Carvalho Aguiar 155, PAMB 2 Andar Bloco 6, 01065-970 São Paulo, Brazil.

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http://dx.doi.org/10.1210/jc.2001-011936DOI Listing
November 2002