A. Billerbeck

发表

Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method.

B. Mendonca, S. Domenice, M. Nishi, 2002, American journal of medical genetics.

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

E. Pinto, C. Longui, B. Mendonca, 2013, Clinics.

Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency.

L. Degroot, M. Knobel, G. Medeiros-Neto, 1991, Journal of Clinical Endocrinology and Metabolism.

A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.

Xuebo Liu, A. Abell, A. Latronico, 1998, The Journal of clinical endocrinology and metabolism.

[Androgen insensitivity syndrome: clinical, hormonal and molecular analysis of 33 cases].

A. Latronico, B. Mendonca, I. Arnhold, 2005, Arquivos brasileiros de endocrinologia e metabologia.

Familial hyperestrogenism in both sexes: clinical, hormonal, and molecular studies of two siblings.

D. Russell, A. Latronico, B. Mendonca, 2003, The Journal of clinical endocrinology and metabolism.

21-Hydroxylase deficiency in Brazil.

C. Longui, I. Arnhold, B. Mendonca, 2000, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

Low Frequency of CYP21B Deletions in Brazilian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

C. Longui, B. Mendonca, I. Arnhold, 1999, Human Heredity.

Clinical, pathological, and molecular studies of two families with lodide organification defect

H. Targovnik, G. Medeiros-Neto, R. Camargo, 1997 .

Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.

A. Latronico, B. Mendonca, I. Arnhold, 2003, The Journal of clinical endocrinology and metabolism.

Parentage testing on blood crusts from firearms projectiles by DNA typing settles and insurance fraud case.

D. Muñoz, E. Iwamura, A. Billerbeck, 2000, Journal of forensic sciences.

Deletion mapping of chromosome 17 in benign and malignant adrenocortical tumors associated with the Arg337His mutation of the p53 tumor suppressor protein.

E. Pinto, A. Latronico, M. Fragoso, 2005, The Journal of clinical endocrinology and metabolism.

A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome

A. Latronico, B. Mendonca, I. Arnhold, 1999, Human mutation.

Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors.

E. Pinto, A. Latronico, S. Domenice, 2004, Arquivos brasileiros de endocrinologia e metabologia.

Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism

B. Mendonca, A. Billerbeck, L. Carvalho, 2012 .

Could the Leukocyte X Chromosome Inactivation Pattern Be Extrapolated to Hair Bulbs?

B. Mendonca, V. Brito, A. Billerbeck, 2010, Hormone Research in Paediatrics.

Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male‐limited precocious puberty

E. Pinto, A. Latronico, B. Mendonca, 2003, Clinical endocrinology.

Clinical and molecular genetics studies in Pendred's syndrome.

J. Kalil, G. Medeiros-Neto, H. Cavaliere, 1994, Thyroid : official journal of the American Thyroid Association.

Molecular analysis of sex determination in sex-reversed and true hermaphroditism.

J. Kalil, H. Targovnik, C. Bergadá, 1996, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

Frequency of the allelic variant (Trp8Arg/Ile15Thr) of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism.

B. Mendonca, I. Arnhold, A. Billerbeck, 2005, Clinics.

[Complete form of androgen insensitivity syndrome in Brazilian patients due to P766A mutation in the androgen receptor].

B. Mendonca, I. Arnhold, A. Billerbeck, 2005, Arquivos brasileiros de endocrinologia e metabologia.

A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.

W. Rainey, K. Parker, B. Mendonca, 2004, The Journal of clinical endocrinology and metabolism.

Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absence of SRY sequence in gonadal tissue.

A. Latronico, F. Carvalho, S. Domenice, 2001, Medical science monitor : international medical journal of experimental and clinical research.

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

H. Kuperman, D. Damiani, B. Mendonca, 2016, European journal of endocrinology.

A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.

O. Monte, I. Arnhold, M. Nishi, 1999, The Journal of clinical endocrinology and metabolism.

Post-mortem forensic identity testing: application of PCR to the identification of fire victim.

E. Iwamura, A. Billerbeck, J. A. Soares-Vieira, 2000, Sao Paulo medical journal = Revista paulista de medicina.

Nongenetic male pseudohermaphroditism and reduced prenatal growth.

F. de Zegher, B. Mendonca, A. Billerbeck, 2001, The New England journal of medicine.

Analysis of DNA in Minute Volumes of Blood From Stains and Crusts

D. Muñoz, A. Billerbeck, J. A. Soares-Vieira, 2001, The American journal of forensic medicine and pathology.

Defective organification of iodide causing hereditary goitrous hypothyroidism.

H. Targovnik, G. Medeiros-Neto, B. Wajchenberg, 1993, Thyroid : official journal of the American Thyroid Association.

Usefulness of MLPA in the detection of SHOX deletions.

B. Mendonca, I. Arnhold, A. Jorge, 2010, European journal of medical genetics.

Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.

E. Pinto, B. Mendonca, I. Arnhold, 2002, The Journal of clinical endocrinology and metabolism.

Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.

B. Mendonca, A. Barbosa, A. Billerbeck, 2007, The Journal of clinical endocrinology and metabolism.

Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency.

B. Mendonca, Priscilla Cukier, A. Billerbeck, 2004, Revista do Hospital das Clinicas.

Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations.

B. Mendonca, I. Arnhold, A. Billerbeck, 2002, The Journal of clinical endocrinology and metabolism.

Influence of different genotypes on 17‐hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21‐hydroxylase deficiency

B. Mendonca, I. Arnhold, A. Billerbeck, 2000, Clinical endocrinology.

Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency.

C. Longui, I. Arnhold, B. Mendonca, 1998, The Journal of clinical endocrinology and metabolism.

X 21-Hydroxylase deficiency in Brazil

C. Longui, I. Arnhold, B. Mendonca, 2022 .

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

C. Kim, B. Mendonca, I. Arnhold, 2006, Clinical endocrinology.

Detection of Leptospira DNA in Patients with Aseptic Meningitis by PCR

E. C. Romero, E. Camargo, A. Billerbeck, 1998, Journal of Clinical Microbiology.

Allele and genotype frequencies for D1S80 locus in a Brazilian population sample.

P. Otto, D. Muñoz, E. Iwamura, 2000, Journal of forensic sciences.

A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis.

G. Cerrone, H. Targovnik, G. Medeiros-Neto, 1995, The Journal of clinical endocrinology and metabolism.

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion

R. M. Martin, A. Billerbeck, L. Carvalho, 2006, Clinical endocrinology.

Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome

D. Damiani, N. Setian, M. Fellous, 1990, Human Genetics.

Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage.

B. Mendonca, S. Domenice, M. Nishi, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Population Genetics of Nine Short Tandem Repeat Loci: Allele Frequency Distribution in a Brazilian Population Sample

E. Pinto, P. Otto, E. Iwamura, 2002, The American journal of forensic medicine and pathology.

Reply to correspondence from Hall—“Detection of Y-specific sequences in patients with Turner syndrome”

B. Mendonca, S. Domenice, M. Nishi, 2002 .

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

E. Pinto, C. Longui, B. Mendonca, 2007, Clinical endocrinology.

Substitutions in the CYP21A2 promoter explain the simple‐virilizing form of 21‐hydroxylase deficiency in patients harbouring a P30L mutation

B. Mendonca, A. Billerbeck, G. Madureira, 2005, Clinical endocrinology.

[Androgen insensitivity syndrome: clinical, hormonal and molecular analysis of 33 cases].

A. Latronico, B. Mendonca, I. Arnhold, 2005, Arquivos brasileiros de endocrinologia e metabologia.

Brazilian Population Data on the Polymerase Chain Reaction-Based Loci LDLR, GYPA, HBGG, D7S8, and Gc

P. Otto, E. Iwamura, A. Billerbeck, 2003, The American journal of forensic medicine and pathology.

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

H. Kuperman, D. Damiani, B. Mendonca, 2016, European journal of endocrinology.

[Standardization of DNA extraction with NaCl from oral mucosa cells: application in PROP1 gene study].

M. Nishi, S. Marui, B. Mendonca, 2005, Arquivos brasileiros de endocrinologia e metabologia.