Ericka Barbosa Trarbach

Summary

Publications

  1. ncbi request reprint Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients
    Ericka B Trarbach
    Laboratorio de Genetica Humana, Centro de Biologia Molecular e Engenharia Genética CBMEG, UNICAMP, Campinas, 13083970, Sao Paulo, Brazil
    J Endocrinol 187:361-8. 2005
  2. ncbi request reprint Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia
    Ericka Barbosa Trarbach
    Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Disciplina de Endocrinologia e Metabologia, Av Dr Eneas de Carvalho Aguiar, 155 2o andar Bloco 6, 05403 900 Sao Paulo, Brazil
    J Clin Endocrinol Metab 91:4006-12. 2006
  3. doi request reprint Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1
    Ericka Barbosa Trarbach
    Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42 da Disciplina de Endocrinologia do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil
    Clin Endocrinol (Oxf) 72:371-6. 2010
  4. doi request reprint Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome
    Ana Paula Abreu
    Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Disciplina de Endocrinologia e Metabologia, 05403 900 Sao Paulo, Brasil
    J Clin Endocrinol Metab 93:4113-8. 2008
  5. pmc Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism
    Daiane Beneduzzi
    Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Avenida Doutor Eneas de Carvalho Aguiar 155, 2 andar, Bloco 6, CEP 05403 900 São Paulo, Sao Paulo, Brazil
    Eur J Endocrinol 165:145-50. 2011
  6. doi request reprint Genetics basis for GnRH-dependent pubertal disorders in humans
    Leticia Ferreira Gontijo Silveira
    Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42 da Disciplina de Endocrinologia do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil
    Mol Cell Endocrinol 324:30-8. 2010
  7. pmc Genotype analysis of the human endostatin variant p.D104N in benign and malignant adrenocortical tumors
    Beatriz Marinho de Paula Mariani
    Faculdade de Medicina, Universidade de Sao Paulo, Unidade de Suprarrenal, Brazil
    Clinics (Sao Paulo) 67:95-8. 2012
  8. ncbi request reprint Genetic insights into human isolated gonadotropin deficiency
    Ericka Barbosa Trarbach
    Developmental Endocrinology Unit, Hormone and Molecular Genetic Laboratory LIM 42, Clinical Hospital, Sao Paulo University Medical School, Sao Paulo 05403 900, Brazil
    Pituitary 10:381-91. 2007

Collaborators

Detail Information

Publications8

  1. ncbi request reprint Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients
    Ericka B Trarbach
    Laboratorio de Genetica Humana, Centro de Biologia Molecular e Engenharia Genética CBMEG, UNICAMP, Campinas, 13083970, Sao Paulo, Brazil
    J Endocrinol 187:361-8. 2005
    ..NELF and EBF2 genes have been considered good candidates for HH and a large number of patients need to be studied to assess their contribution to reproductive function...
  2. ncbi request reprint Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia
    Ericka Barbosa Trarbach
    Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Disciplina de Endocrinologia e Metabologia, Av Dr Eneas de Carvalho Aguiar, 155 2o andar Bloco 6, 05403 900 Sao Paulo, Brazil
    J Clin Endocrinol Metab 91:4006-12. 2006
    ..To date, loss-of-function mutations in the genes encoding anosmin-1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1) have been described in the X-linked and autosomal dominant forms of this syndrome, respectively...
  3. doi request reprint Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1
    Ericka Barbosa Trarbach
    Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42 da Disciplina de Endocrinologia do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil
    Clin Endocrinol (Oxf) 72:371-6. 2010
    ..Therefore, it remains to be determined whether patients without detected point mutation carried a heterozygous deletion of one or more exons...
  4. doi request reprint Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome
    Ana Paula Abreu
    Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Disciplina de Endocrinologia e Metabologia, 05403 900 Sao Paulo, Brasil
    J Clin Endocrinol Metab 93:4113-8. 2008
    ..Physiological activation of the prokineticin pathway has a critical role in olfactory bulb morphogenesis and GnRH secretion in mice...
  5. pmc Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism
    Daiane Beneduzzi
    Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Avenida Doutor Eneas de Carvalho Aguiar 155, 2 andar, Bloco 6, CEP 05403 900 São Paulo, Sao Paulo, Brazil
    Eur J Endocrinol 165:145-50. 2011
    ..In humans, necdin plays a potential role in the hypogonadotropic hypogonadism phenotype in patients with Prader-Willi syndrome...
  6. doi request reprint Genetics basis for GnRH-dependent pubertal disorders in humans
    Leticia Ferreira Gontijo Silveira
    Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42 da Disciplina de Endocrinologia do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil
    Mol Cell Endocrinol 324:30-8. 2010
    ..These discoveries have yielded significant insights into the current knowledge of this important life transition...
  7. pmc Genotype analysis of the human endostatin variant p.D104N in benign and malignant adrenocortical tumors
    Beatriz Marinho de Paula Mariani
    Faculdade de Medicina, Universidade de Sao Paulo, Unidade de Suprarrenal, Brazil
    Clinics (Sao Paulo) 67:95-8. 2012
    ..The purpose of this study was to genotype the p.D104N variant in a cohort of pediatric and adult patients with adrenocortical tumors and to determine its possible association with the biological behavior of adrenocortical tumors...
  8. ncbi request reprint Genetic insights into human isolated gonadotropin deficiency
    Ericka Barbosa Trarbach
    Developmental Endocrinology Unit, Hormone and Molecular Genetic Laboratory LIM 42, Clinical Hospital, Sao Paulo University Medical School, Sao Paulo 05403 900, Brazil
    Pituitary 10:381-91. 2007
    ..Finally, mutations of the beta sub-units of LH and FSH have been described in patients with selective gonadotropin deficiency. We review the role of these distinct genetic factors in human isolated hypogonadotropic hypogonadism...