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Ana Elisa C. Billerbeck

Observed names: A Billerbeck, A E Billerbeck, A E C Billerbeck, A E L Billerbeck, A. E. Billerbeck, A. E. C. Billerbeck, A.E.C. Billerbeck, ANA ELISA C. BILLERBECK, ANA ELISA CORREIA BILLERBECK, ANA-ELISA CORREA BILLERBECK, Ana E. Billerbeck, Ana E. C. Billerbeck, Ana E.C. Billerbeck, Ana Elisa Billerbeck, Ana Elisa C Billerbeck, Ana Elisa Correia Billerbeck, AnaElisaC. Billerbeck
Observed institutions: Howard Hughes Medical Institute, Universidade de São Paulo, Universidad de Buenos Aires, University of Chicago, Hospital de Clínicas "José de San Martín", Hospital Universitário da Universidade de São Paulo, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Hospital General de Niños Ricardo Gutierrez, Instituto do Coração - HCFMUSP
OpenAlex ID: A5113544182
Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
2003 · Karla F. S. Melo, Berenice B. Mendonca, et al. · The Journal of Clinical Endocrinology & Metabolism · 190
Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors
2004 · Emilia M. Pinto, Ana Elisa C. Billerbeck, et al. · Arquivos Brasileiros de Endocrinologia & Metabologia · 154
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A Microdeletion in the Ligand Binding Domain of Human Steroidogenic Factor 1 Causes XY Sex Reversal without Adrenal Insufficiency
2004 · Rafaela V. Correa, Sorahia Domenice, et al. · The Journal of Clinical Endocrinology & Metabolism · 151
SHOX mutations in idiopathic short stature and Leri‐Weill dyschondrosteosis: frequency and phenotypic variability
2006 · Alexander A. L. Jorge, Silvia C. Souza, et al. · Clinical Endocrinology · 111
Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency1
1998 · Tânia A. S. S. Bachega, Ana Elisa C. Billerbeck, et al. · The Journal of Clinical Endocrinology & Metabolism · 106
A Unique Constitutively Activating Mutation in Third Transmembrane Helix of Luteinizing Hormone Receptor Causes Sporadic Male Gonadotropin-Independent Precocious Puberty
1998 · A. C. Latronico, A. N. Abell, et al. · The Journal of Clinical Endocrinology & Metabolism · 100
Influence of different genotypes on 17‐hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21‐hydroxylase deficiency
2000 · Tânia A. S. S. Bachega, Ana E. C. Billerbeck, et al. · Clinical Endocrinology · 89
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Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction
2016 · Daniel F de Carvalho, Mirela C Miranda, et al. · European Journal of Endocrinology · 75
Detection of Y‐specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method
2002 · Mirian Y. Nishi, Sorahia Domenice, et al. · American Journal of Medical Genetics · 72
Detection of Leptospira DNA in Patients with Aseptic Meningitis by PCR
1998 · Eliete C. Romero, Ana E. C. Billerbeck, et al. · Journal of Clinical Microbiology · 72
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Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency
2007 · Rogério S. Araújo, Berenice B. Mendonca, et al. · The Journal of Clinical Endocrinology & Metabolism · 69
A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives
1998 · Sorahia Domenice, Miriam Yumie Nishi, et al. · Human Genetics · 68
Three Novel Mutations in CYP21 Gene in Brazilian Patients with the Classical Form of 21-Hydroxylase Deficiency Due to a Founder Effect
2002 · Ana Elisa C. Billerbeck, Berenice B. Mendonca, et al. · The Journal of Clinical Endocrinology & Metabolism · 65
A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis
1995 · H M Targovnik, J Vono, et al. · The Journal of Clinical Endocrinology & Metabolism · 63
Familial Hyperestrogenism in Both Sexes: Clinical, Hormonal, and Molecular Studies of Two Siblings
2003 · Regina M. Martin, Chin J. Lin, et al. · The Journal of Clinical Endocrinology & Metabolism · 58
Variable ACTH-Stimulated 17-Hydroxyprogesterone Values in 21-Hydroxylase Deficiency Carriers Are Not Related to the Different CYP21 Gene Mutations
2002 · Tânia A. S. S. Bachega, Enecy M. L. Brenlha, et al. · The Journal of Clinical Endocrinology & Metabolism · 49
The degree of external genitalia virilization in girls with 21‐hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene
2007 · Rosana O. Rocha, Ana Elisa C. Billerbeck, et al. · Clinical Endocrinology · 44
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A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency
1999 · Ana Elisa C. Billerbeck, Tânia A. S. S. Bachega, et al. · The Journal of Clinical Endocrinology & Metabolism · 44
Deletion Mapping of Chromosome 17 in Benign and Malignant Adrenocortical Tumors Associated with the Arg337His Mutation of the p53 Tumor Suppressor Protein
2005 · Emilia M Pinto, Ana Elisa C. Billerbeck, et al. · The Journal of Clinical Endocrinology & Metabolism · 42
Substitutions in the CYP21A2 promoter explain the simple‐virilizing form of 21‐hydroxylase deficiency in patients harbouring a P30L mutation
2005 · Rogério S. Araujo, Ana Elisa C. Billerbeck, et al. · Clinical Endocrinology · 42
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Low Frequency of CYP21B Deletions in Brazilian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
1999 · Tânia A.S.S. Bachega, Ana Elisa C. Billerbeck, et al. · Human Heredity · 37
Genetic Linkage Studies of Thyroid Peroxidase (TPO) Gene in Families with TPO Deficiency*
1991 · AMPICA MANGKLABRUKS, ANA-ELISA CORREA BILLERBECK, et al. · The Journal of Clinical Endocrinology & Metabolism · 37
Defective Organification of Iodide Causing Hereditary Goitrous Hypothyroidism
1993 · GERALDO A. MEDEIROS-NETO, ANA ELISA C. BILLERBECK, et al. · Thyroid · 36
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion
2006 · M. G. Abrão, M. V. Leite, et al. · Clinical Endocrinology · 35
Padronização da técnica de extração de DNA de células de mucosa oral com NaCl: aplicação no estudo do gene PROP1
2005 · Milena Garcia Abrão, Ana Elisa C. Billerbeck, et al. · Arquivos Brasileiros de Endocrinologia & Metabologia · 30
Works count: 87
Citation count: 2,139
H-index: 26
I10-index: 38
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