I. Arnhold

发表

Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes

Piero Carninci, B. Ellsworth, S. Camper, 2010, Molecular and Cellular Endocrinology.

Low-dose oral clonidine: effective growth hormone releasing agent in children but not in adolescents.

W. Bloise, F. D'Abronzo, B. Mendonca, 1987, The Journal of pediatrics.

The phenotypic spectrum associated with OTX2 mutations in humans

Jun Z. Li, M. Maghnie, M. Dattani, 2021, European journal of endocrinology.

Diagnostic value of fluorometric assays in the evaluation of precocious puberty.

A. C. Thirone, A. Latronico, I. Arnhold, 1999, The Journal of clinical endocrinology and metabolism.

Genetic investigation of patients with tall stature.

A. Lerário, C. Rosenberg, R. Martin, 2019, European journal of endocrinology.

Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management.

J. D. Wilson, D. Russell, B. Mendonca, 1996, Medicine.

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.

Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone–Receptor Gene

C. Tsigos, G. Chrousos, M. Castro, 1996 .

Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid‐binding domain

C. Migeon, T. Brown, B. Mendonca, 1995, Human mutation.

Lack of reduction in body fat after treatment with insulin-like growth factor-I in two children with growth hormone gene deletions

A. Bianco, B. Mendonca, A. Carrilho, 2000, Journal of endocrinological investigation.

Long-Acting Gonadotropin-Releasing Hormone Agonists in the Differential Diagnosis of Male Precocious Puberty

A. Latronico, W. Bloise, S. Domenice, 1997, Journal of pediatric endocrinology & metabolism : JPEM.

Women with steroid 5 alpha-reductase 2 deficiency have normal concentrations of plasma 5 alpha-dihydroprogesterone during the luteal phase.

D. Russell, J. Wilson, A. Wallace, 1995, The Journal of clinical endocrinology and metabolism.

Management of ambiguous genitalia in pseudohermaphrodites: new perspectives on vaginal dilation.

B. B. Mendonça, I. Arnhold, F. A. Silva, 1997, Fertility and sterility.

Male pseudohermaphroditism due to 5 alpha reductase deficiency associated with gynecomastia.

W. Bloise, B. Mendonca, M. C. Batista, 1987, Revista do Hospital das Clinicas.

Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty.

I. Arnhold, W. Bloise, B. Mendonca, 1987, Journal of steroid biochemistry.

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.

Spironolactone-reversible rickets associated with 11 beta-hydroxysteroid dehydrogenase deficiency syndrome.

W. Bloise, C. Kater, B. Mendonca, 1986, The Journal of pediatrics.

Catch-Up Growth in Patients with Congenital or Acquired Growth Hormone Deficiency After GH Replacement: Clinical Features and Hypothalamic–Pituitary Imaging

B. Mendonca, C. Leite, L. Lucato, 2012 .

Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

C. Tsigos, G. Chrousos, M. Castro, 1996, The New England journal of medicine.

Prepubertal male pseudohermaphroditism due to 17-ketosteroid reductase deficiency: diagnostic value of a hCG test and lack of HLA association

I. Arnhold, W. Bloise, B. Mendonca, 1988, Journal of endocrinological investigation.

Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene.

A. Latronico, V. Brito, S. Domenice, 2001, The Journal of clinical endocrinology and metabolism.

Phenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II.

J. Varley, R. Fisher, R. Sutcliffe, 2000, Journal of molecular endocrinology.

Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche

W. Bloise, B. Mendonca, V. Estefan, 1991, Journal of endocrinological investigation.

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

A. Krepischi, A. Lerário, A. Jorge, 2015, Clinical endocrinology.

Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies

E. Baracat, B. Mendonca, V. Brito, 2017, Journal of the Endocrine Society.

Adrenal Nodules in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Regression after Adequate Hormonal Control

B. Mendonca, I. Arnhold, G. Madureira, 2001, Journal of pediatric endocrinology & metabolism : JPEM.

Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene.

A. Latronico, B. Mendonca, I. Arnhold, 1999, Fertility and sterility.

Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

F. Fanelli, A. Latronico, D. Segaloff, 2000, The Journal of clinical endocrinology and metabolism.

A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

A. Latronico, D. Segaloff, B. Mendonca, 1998, Molecular endocrinology.

A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

C. Tsigos, A. Latronico, B. Wajchenberg, 1995, The Journal of clinical endocrinology and metabolism.

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

E. Vilain, B. Mendonca, I. Arnhold, 2004, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

Clinical and molecular analysis of human reproductive disorders in Brazilian patients.

A. Latronico, S. Domenice, B. B. Mendonça, 2004, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

Normal expression of the serologically defined H-Y antigen in Leydig cell hypoplasia.

W. Bloise, C. Moreira-Filho, B. Mendonca, 1988, The Journal of urology.

Serum Inhibin Levels Before and After Gonadotropin Stimulation in Cryptorchid Boys Under Age 4 Years

C. Longui, W. Bloise, B. Mendonca, 1998, Journal of pediatric endocrinology & metabolism : JPEM.

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.

Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.

G. Bédécarrats, U. Kaiser, A. Latronico, 2001, The Journal of clinical endocrinology and metabolism.

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

Karolina Kot, J. Parks, M. Lemos, 2015, European Journal of Human Genetics.

17Beta-hydroxysteroid dehydrogenase 3 deficiency in women.

D. Russell, J. Wilson, W. Bloise, 1999, The Journal of clinical endocrinology and metabolism.

Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.

A. Latronico, I. Arnhold, B. Mendonca, 1999, The Journal of clinical endocrinology and metabolism.

The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.

J. Cogan, J. Phillips, J D Cogan, 1998, The Journal of clinical endocrinology and metabolism.

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Michael H. Guo, J. Kitzman, Jun Z. Li, 2021, medRxiv.

Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels.

A. Latronico, B. Mendonca, D. Macedo, 2018, Human reproduction.

Cushing's syndrome due to ectopic ACTH secretion by bilateral pheochromocytomas in multiple endocrine neoplasia type 2A.

B. Mendonca, I. Arnhold, W. Nicolau, 1988, The New England journal of medicine.

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

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

Additional Considerations to the Ethics of Growth Promotion and Challenges to Human Growth Hormone (hGH)-for-Height Therapy

D. Sandberg, I. Arnhold, 2017, Hormone Research in Paediatrics.

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations

A. Jorge, B. Mendonca, M. Nishi, 2017, Clinical endocrinology.

Premature thelarche in girls after growth hormone therapy.

B. Mendonca, L. Carvalho, I. Arnhold, 2001, The Journal of pediatrics.

Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.

P. Kopp, A. Latronico, S. Marui, 2000, The Journal of clinical endocrinology and metabolism.

Clinical and molecular characterization of Brazilian patients with growth hormone gene deletions.

J. Cogan, J. Phillips, B. Mendonca, 1998, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

Origin of an ovarian steroid cell tumor causing isosexual pseudoprecocious puberty demonstrated by the expression of adrenal steroidogenic enzymes and adrenocorticotropin receptor.

F M Carvalho, A. Latronico, A. Jorge, 2000, The Journal of clinical endocrinology and metabolism.

46,XY disorders of sex development (46,XY DSD) due to androgen receptor defects: androgen insensitivity syndrome.

B. Mendonca, S. Domenice, D. Danilovic, 2011, Advances in Experimental Medicine and Biology.

Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene

B. Mendonca, I. Arnhold, D. Danilovic, 2007, Osteoporosis International.

Insulin-like Growth Factor-I Treatment in Two Children with Growth Hormone Gene Deletions

B. Mendonca, I. Arnhold, M. Osorio, 1999, Journal of pediatric endocrinology & metabolism : JPEM.

Sleep / wake cycle in adolescents

A. Benedito‐Silva, I. Arnhold, L. Barreto, 1991 .

Ovarian resistance to luteinizing hormone: a novel cause of amenorrhea and infertility.

G. Chrousos, A. Latronico, F. Carvalho, 1997, Fertility and Sterility.

Sleep characteristics of adolescents: a longitudinal study.

L Menna-Barreto, A. Benedito‐Silva, I. Arnhold, 1993, The Journal of adolescent health : official publication of the Society for Adolescent Medicine.

Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature.

A. Jorge, I. Arnhold, 2007, Journal of medical genetics.

Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

Jun Z. Li, S. Camper, B. Mendonca, 2023, Endocrine connections.

Leydig cell hypoplasia causing male pseudohermaphroditism: case report and review of the literature.

W. Bloise, S. Toledo, H. Bisi, 1987, Revista do Hospital das Clínicas.

Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females.

R. Sutcliffe, W. Bloise, B. Wajchenberg, 1994, Journal of molecular endocrinology.