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Ivo Arnhold

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Andrea C Leal; Berenice B Mendonca; Luciana R Montenegro; Tamaya C Ribeiro; Renata F Saito; Ivo J P Arnhold; Debora C Coutinho; Alexander A L Jorge
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).
Marcela M França; Alexander A L Jorge; Berenice B Mendonca; Aline P Otto; Luciani R Carvalho; Fernanda A Correa; Everlayny F Costalonga; Ivo J P Arnhold
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
Priscilla Cukier; Claudia Da Costa Leite; Luiz Roberto Kobuti Ferreira; Ana Claudia Latronico; Berenice Bilharinho Mendonca; Leandro Roberto Teles; Carla Cristina Adda; Ivo J P Arnhold; Natalie Banaskiwitz; Luiz Henrique Martins Castro; Vinicius Nahime Brito
The benign spectrum of hypothalamic hamartomas: infrequent epilepsy and normal cognition in patients presenting with central precocious puberty.

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2013: Andrea C Leal; Berenice B Mendonca; Luciana R Montenegro; Tamaya C Ribeiro; Renata F Saito; Ivo J P Arnhold; Debora C Coutinho; Alexander A L Jorge
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).
Clinical endocrinology 2013;78(4):558-63.
2013: Marcela M França; Alexander A L Jorge; Berenice B Mendonca; Aline P Otto; Luciani R Carvalho; Fernanda A Correa; Everlayny F Costalonga; Ivo J P Arnhold
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
Clinical endocrinology 2013;78(4):551-7.
2013: Priscilla Cukier; Claudia Da Costa Leite; Luiz Roberto Kobuti Ferreira; Ana Claudia Latronico; Berenice Bilharinho Mendonca; Leandro Roberto Teles; Carla Cristina Adda; Ivo J P Arnhold; Natalie Banaskiwitz; Luiz Henrique Martins Castro; Vinicius Nahime Brito
The benign spectrum of hypothalamic hamartomas: infrequent epilepsy and normal cognition in patients presenting with central precocious puberty.
Seizure : the journal of the British Epilepsy Association 2013;22(1):28-32.
2012: Alexsandra C Malaquias; Berenice B Mendonca; Alexandre C Pereira; Ivo J P Arnhold; Débora R Bertola; Amanda S Brasil; Alexander A L Jorge
Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.
American journal of medical genetics. Part A 2012;158A(11):2700-6.
2012: Ana Claudia Latronico; Ivo J P Arnhold
Inactivating mutations of the human luteinizing hormone receptor in both sexes.
Seminars in reproductive medicine 2012;30(5):382-6.
2012: Marcela M França; Ivo J P Arnhold
Clarification of intellectual abilities in patients with GLI2 mutations cited by Kevelam et al., 2012 Am J Med Genet Part A.
American journal of medical genetics. Part A 2012;158A(6):1519.
2012: Adriana F Braz; Everlayny F Costalonga; Sonir R Antonini; Ivo J P Arnhold; Alexsandra C Malaquias; Berenice B Mendonca; Luciana R Montenegro; Ester S Ramos; Ericka Barbosa Trarbach; Alexander A L Jorge
The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome.
The Journal of clinical endocrinology and metabolism 2012;97(4):E671-7.
2012: Luciana R Montenegro; Mirian Y Nishi; Helena P L Valassi; Ivo J P Arnhold; Debora C Coutinho; Andrea C Leal; Berenice B Mendonca; Alexander A L Jorge
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.
European journal of endocrinology / European Federation of Endocrine Societies 2012;166(3):543-50.
2012: Suemi Marui; Berenice B Mendonca; Mirian Y Nishi; Ericka Barbosa Trarbach; Margaret C S Boguszewski; Luiz de Lacerda Filho; Marcela M França; Hiroshi Inoue; Alexander A L Jorge; Manuel H Aguiar-Oliveira; Ivo J P Arnhold
GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.
Hormone research in pædiatrics 2012;78(3):165-72.
2011: Marcela M França; Alexander A L Jorge; Berenice B Mendonca; Kyriaki S Alatzoglou; Laura Audi; Antonio Carrascosa; Luciani R Carvalho; Mehul T Dattani; Ivo J P Arnhold
Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.
The Journal of clinical endocrinology and metabolism 2011;96(9):E1457-60.
2011: Patricia N Pugliese-Pires; Sandra M F Villares; Alan Kopin; Ana Claudia Latronico; Berenice B Mendonca; Ivo J P Arnhold; Thais Arthur; Jean-Philippe Fortin; Alexander A L Jorge
Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.
European journal of endocrinology / European Federation of Endocrine Societies 2011;165(2):233-41.
2011: Kyriaki S Alatzoglou; Daniel Kelberman; Christopher T Cowell; Rodger Palmer; Ivo J P Arnhold; Maria E Melo; Dirk Schnabel; Annette Grueters; Mehul T Dattani
Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.
The Journal of clinical endocrinology and metabolism 2011;96(4):E685-90.
2011: Ivo J P Arnhold; Elaine Maria Frade Costa; Debora Danilovic; Sorahia Domenice; Marlene Inacio; Karla Melo; Berenice B Mendonca
46,XY disorders of sex development (46,XY DSD) due to androgen receptor defects: androgen insensitivity syndrome.
Advances in experimental medicine and biology 2011;707():59-61.
2011: Marlene Inacio; Ari Alves Oliveira-Junior; Maria Helena P Sircili; Francisco D Tibor; Ivo J P Arnhold; Vinicius Nahime Brito; Elaine Maria Frade Costa; Sorahia Domenice; Berenice B Mendonca
46,XY DSD due to 17β-HSD3 deficiency and 5α-reductase type 2 deficiency.
Advances in experimental medicine and biology 2011;707():9-14.
2010: Marcela M França; Alexander A L Jorge; Luciani R Carvalho; Everlayny F Costalonga; Gabriela A Vasques; Claudia C Leite; Berenice B Mendonca; Ivo J P Arnhold
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
The Journal of clinical endocrinology and metabolism 2010;95(11):E384-91.
2010: Maria Helena Palma Sircili; Frederico Arnaldo de Queiroz e Silva; Elaine Maria Frade Costa; Vinicius N Brito; Ivo J P Arnhold; Francisco T Dénes; Marlene Inacio; Berenice Bilharinho de Mendonca
Long-term surgical outcome of masculinizing genitoplasty in large cohort of patients with disorders of sex development.
The Journal of urology 2010;184(3):1122-7.
2010: Mariana F A Funari; Alexander A L Jorge; Silvia C Souza; Ana E C Billerbeck; Ivo J P Arnhold; Berenice B Mendonca; Mirian Y Nishi
Usefulness of MLPA in the detection of SHOX deletions.
European journal of medical genetics 2010;53(5):234-8.
2010: Patricia N Pugliese-Pires; Carlos A Tonelli; Jose M Dora; Paulo C A Silva; Mauro Czepielewski; Genoir Simoni; Ivo J P Arnhold; Alexander A L Jorge
A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings.
European journal of endocrinology / European Federation of Endocrine Societies 2010;163(2):349-55.
2010: L G Silveira; S D Noel; A P Silveira-Neto; A P Abreu; Vinicius Nahime Brito; M G Santos; Suzy Bianco; Wendy Kuohung; S Xu; M Gryngarten; M E Escobar; Ivo J P Arnhold; Berenice B Mendonca; Ursula B Kaiser; Ana Claudia Latronico
Mutations of the KISS1 gene in disorders of puberty.
The Journal of clinical endocrinology and metabolism 2010;95(5):2276-80.
2010: Renata C Scalco; Suzana S J Melo; Patricia N Pugliese-Pires; Mariana F A Funari; Mirian Y Nishi; Ivo J P Arnhold; Berenice B Mendonca; Alexander A L Jorge
Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.
The Journal of clinical endocrinology and metabolism 2010;95(1):328-32.
2009: Alexander A L Jorge; Ivo J P Arnhold
Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment.
Hormone research 2009;71 Suppl 2():55-63.
2009: Frederico G Marchisotti; Alexander A L Jorge; Luciana Ribeiro Montenegro; Karina Berger; Luciani Renata Silveira de Carvalho; Berenice B Mendonca; Ivo J P Arnhold
Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2009;19(2):179-86.
2009: Everlayny Fiorot Costalonga; Sonir R Antonini; Gil Guerra-Junior; Berenice B Mendonca; Ivo J P Arnhold; Alexander A L Jorge
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.
The Journal of clinical endocrinology and metabolism 2009;94(2):588-95.
2009: Berenice B Mendonca; Sorahia Domenice; Ivo J P Arnhold; Elaine Maria Frade Costa
46,XY disorders of sex development (DSD).
Clinical endocrinology 2009;70(2):173-87.
2009: Alexander A L Jorge; Alexsandra C Malaquias; Ivo J P Arnhold; Berenice B Mendonca
Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.
Hormone research 2009;71(4):185-93.
2009: Maria Estela Justamante de Faria; Luciani R Carvalho; Shirley M Rossetto; Terezinha Sampaio Amaral; Karina Berger; Ivo J P Arnhold; Berenice B Mendonca
Analysis of craniofacial and extremity growth in patients with growth hormone deficiency during growth hormone therapy.
Hormone research 2009;71(3):173-7.
2009: Ivo J P Arnhold; Adriana Lofrano-Porto; Ana Claudia Latronico
Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women.
Hormone research 2009;71(2):75-82.
2008: Mariana F A Funari; Alexander A L Jorge; Emilia Pinto; Ivo J P Arnhold; Berenice B Mendonca; Mirian Y Nishi
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA).
Arquivos brasileiros de endocrinologia e metabologia 2008;52(8):1382-7.
2008: Regina M Martin; Paulo S L Oliveira; Elaine Maria Frade Costa; Ivo J P Arnhold; Berenice B Mendonca
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling.
Arquivos brasileiros de endocrinologia e metabologia 2008;52(8):1317-20.
2008: Erik Trovão Diniz; Alexander A L Jorge; Ivo J P Arnhold; Arlan Rosenbloom; Francisco Bandeira
[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].
Arquivos brasileiros de endocrinologia e metabologia 2008;52(8):1264-71.
2008: Lize V Ferreira; Silvia C Souza; Luciana R Montenegro; Alexsandra C Malaquias; Ivo J P Arnhold; Berenice B Mendonca; Alexander A L Jorge
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
Clinical endocrinology 2008;69(3):426-31.
2008: Everlayny F Costalonga; Alexander A L Jorge; Berenice B Mendonça; Ivo J P Arnhold
[Mathematical models for predicting growth responses to growth hormone replacement therapy].
Arquivos brasileiros de endocrinologia e metabologia 2008;52(5):839-49.
2008: Alexsandra C Malaquias; Lize V Ferreira; Silvia C Souza; Ivo J P Arnhold; Berenice B Mendonça; Alexander A L Jorge
[Noonan syndrome: from phenotype to growth hormone therapy].
Arquivos brasileiros de endocrinologia e metabologia 2008;52(5):800-8.
2008: Alexander A L Jorge; Mirian Y Nishi; Mariana F A Funari; Silvia C Souza; Ivo J P Arnhold; Berenice B Mendonça
[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].
Arquivos brasileiros de endocrinologia e metabologia 2008;52(5):765-73.
2008: Manuela Giuliani Marcondes Rocha; Frederico Guimarães Marchisotti; Maria Geralda Farah Osório; Suemi Marui; Luciani R Carvalho; Alexander A L Jorge; Berenice B Mendonca; Ivo J P Arnhold
High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment.
Journal of pediatric endocrinology & metabolism : JPEM 2008;21(7):673-80.
2008: Vinicius Nahime Brito; Ana Claudia Latronico; Priscilla Cukier; Milena Gurgel Teles; Letícia F G Silveira; Ivo J P Arnhold; Berenice B Mendonca
Factors determining normal adult height in girls with gonadotropin-dependent precocious puberty treated with depot gonadotropin-releasing hormone analogs.
The Journal of clinical endocrinology and metabolism 2008;93(7):2662-9.
2008: Madson Queiroz Almeida; Vinicius Nahime Brito; Theresa S Soares Lins; Gil Guerra-Junior; Margaret de Castro; Sonir R Antonini; Ivo J P Arnhold; Berenice B Mendonca; Ana Claudia Latronico
Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole.
Clinical endocrinology 2008;69(1):93-8.
2008: Vinicius Nahime Brito; Ana Claudia Latronico; Ivo J P Arnhold; Berenice B Mendonça
Update on the etiology, diagnosis and therapeutic management of sexual precocity.
Arquivos brasileiros de endocrinologia e metabologia 2008;52(1):18-31.
2007: Debora C Coutinho; Rocio R D Coletta; Elaine Maria Frade Costa; Paulo R Pachi; Margaret C S Boguszewski; Durval Damiani; Berenice B Mendonca; Ivo J P Arnhold; Alexander A L Jorge
Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment.
The Journal of clinical endocrinology and metabolism 2007;92(12):4889-92.
2007: Frederico G Marchisotti; Luciani R Carvalho; Karina Berger; Ivo J P Arnhold; Berenice B Mendonça
[Growth hormone (GH) deficiency treatment in children: comparison between uses of pen versus bottles/syringes on GH administration].
Arquivos brasileiros de endocrinologia e metabologia 2007;51(7):1093-6.
2007: Alexander A L Jorge; Ivo J P Arnhold
Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature.
Journal of medical genetics 2007;44(10):e90; author reply e91.
2007: Marcos T K Toyoshima; Luciana A Castroneves; Everlayny F Costalonga; Berenice B Mendonca; Ivo J P Arnhold; Alexander A L Jorge
Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature.
Clinical endocrinology 2007;67(4):500-4.
2007: Lize V Ferreira; Silvia A L Souza; Luciana R Montenegro; Ivo J P Arnhold; Titania Pasqualini; Juan Jorge Heinrich; Ana Claudia Keselman; Berenice B Mendonça; Alexander A L Jorge
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].
Arquivos brasileiros de endocrinologia e metabologia 2007;51(3):450-6.
2007: D L S Danilovic; P H S Correa; Elaine Maria Frade Costa; Karla F S Melo; Berenice B Mendonca; Ivo J P Arnhold
Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2007;18(3):369-74.
2007: Alexander A L Jorge; Silvia C Souza; Miriam Y Nishi; Ana Elisa C Billerbeck; Débora C C Libório; Chong A Kim; Ivo J P Arnhold; Berenice B Mendonca
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
Clinical endocrinology 2007;66(1):130-5.
2007: Maria Edna Melo; Suemi Marui; Luciani R Carvalho; Ivo J P Arnhold; Claudia C Leite; Berenice B Mendonça; Mirta Knoepfelmacher
Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe.
Clinical endocrinology 2007;66(1):95-102.
2006: Ana Claudia Latronico; Ivo J P Arnhold
Inactivating mutations of LH and FSH receptors--from genotype to phenotype.
Pediatric endocrinology reviews : PER 2006;4(1):28-31.
2006: Catarina Brasil d'Alva; Vinicius Nahime Brito; Heloisa M C Palhares; Filomena Marino Carvalho; Ivo J P Arnhold; Berenice B Mendonca; Ana Claudia Latronico
A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin-independent precocious puberty.
Clinical endocrinology 2006;65(3):408-10.
2006: Milena Garcia Abrão; Maristela V Leite; Luciani R Carvalho; Ana Elisa C Billerbeck; Mirian Y Nishi; A S Barbosa; Regina M Martin; Ivo J P Arnhold; Berenice B Mendonca
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.
Clinical endocrinology 2006;65(3):294-300.
2006: Vinicius Nahime Brito; Berenice B Mendonca; Laura M F F Guilhoto; Karina Cocco Monteiro Freitas; Ivo J P Arnhold; Ana Claudia Latronico
Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities.
The Journal of clinical endocrinology and metabolism 2006;91(6):2432-6.
2006: Milena Teles; Vinicius Nahime Brito; Ivo J P Arnhold; Berenice B Mendonca; Ana Claudia Latronico
Preclinical diagnosis of testotoxicosis in a boy with an activating mutation of the luteinizing hormone receptor.
Journal of pediatric endocrinology & metabolism : JPEM 2006;19(4):541-4.
2006: Alexander A L Jorge; Frederico G Marchisotti; Luciana R Montenegro; Luciani R Carvalho; Berenice B Mendonca; Ivo J P Arnhold
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.
The Journal of clinical endocrinology and metabolism 2006;91(3):1076-80.
2006: Martin O Savage; Fernando Cassorla; Peter D Gluckman; Annette Grueters-Kieslich; Palany Raghupathy; Martin Silink; Paul Czernichow; Francesco Chiarelli; Alan D Rogol; Patricia A Crock; Chris T Cowell; Kenji Fujieda; Ivo J P Arnhold
Global inequalities in paediatric endocrine practice: statement of minimal acceptable care. Statement from the international societies for paediatric endocrinology.
Hormone research 2006;65(3):111-3.
2005: Karina Berger; Ana Elisa Correia Billerbeck; Elaine Maria Frade Costa; Luciani Silveira Carvalho; Ivo J P Arnhold; Berenice B Mendonca
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.
Clinics (São Paulo, Brazil) 2005;60(6):461-4.
2005: Lize V Ferreira; Silvia A L Souza; Ivo J P Arnhold; Berenice B Mendonca; Alexander A L Jorge
PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.
The Journal of clinical endocrinology and metabolism 2005;90(9):5156-60.
2005: Alexander A L Jorge; Hamilton C de Menezes Filho; Theresa S Soares Lins; Dulce Rondina Guedes; Durval Damiani; Nuvarte Setian; Ivo J P Arnhold; Berenice B Mendonça
[Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity].
Arquivos brasileiros de endocrinologia e metabologia 2005;49(3):384-9.
2005: Rafaela V Corrêa; João C Wey; Ana Elisa C Billerbeck; Karla F S Melo; Berenice B Mendonça; Marta V Wey; Ivo J P Arnhold
[Complete form of androgen insensitivity syndrome in Brazilian patients due to P766A mutation in the androgen receptor].
Arquivos brasileiros de endocrinologia e metabologia 2005;49(1):98-102.
2005: Karla F S Melo; Berenice B Mendonça; Ana Elisa C Billerbeck; Elaine Maria Frade Costa; Ana Claudia Latronico; Ivo J P Arnhold
[Androgen insensitivity syndrome: clinical, hormonal and molecular analysis of 33 cases].
Arquivos brasileiros de endocrinologia e metabologia 2005;49(1):87-97.
2005: Ana Claudia Latronico; Elaine Maria Frade Costa; Berenice B Mendonça; Ivo J P Arnhold
[Leydig cell hypoplasia].
Arquivos brasileiros de endocrinologia e metabologia 2005;49(1):83-6.
2004: Vinicius Nahime Brito; Ana Claudia Latronico; Ivo J P Arnhold; Berenice B Mendonca
A single luteinizing hormone determination 2 hours after depot leuprolide is useful for therapy monitoring of gonadotropin-dependent precocious puberty in girls.
The Journal of clinical endocrinology and metabolism 2004;89(9):4338-42.
2004: Sorahia Domenice; R V Corrêa; Elaine Maria Frade Costa; Mirian Y Nishi; E Vilain; Ivo J P Arnhold; Berenice B Mendonca
Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2004;37(1):145-50.
2004: Ana Claudia Latronico; Elaine Maria Frade Costa; Sorahia Domenice; R V Correa; Maria Beatriz Kohek; Ivo J P Arnhold; Berenice B Mendonca
Clinical and molecular analysis of human reproductive disorders in Brazilian patients.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2004;37(1):137-44.
2004: Alexander A L Jorge; Silvia C Souza; Ivo J P Arnhold; Berenice B Mendonca
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.
Clinical endocrinology 2004;60(1):36-40.
2003: Luciani R Carvalho; Maria Estela Justamante de Faria; Maria Geralda Farah Osorio; Vivian Estefan; Alexander A L Jorge; Ivo J P Arnhold; Berenice B Mendonca
Acromegalic features in growth hormone (GH)-deficient patients after long-term GH therapy.
Clinical endocrinology 2003;59(6):788-92.
2003: Luciani R Carvalho; Kathryn S Woods; Berenice B Mendonca; Nathalie Marcal; Andrea L Zamparini; Stefano Stifani; Joshua M Brickman; Ivo J P Arnhold; Mehul T Dattani
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.
The Journal of clinical investigation 2003;112(8):1192-201.
2003: Ana Claudia Latronico; Ana Elisa C Billerbeck; Emilia Pinto; Catarina Brazil D'Alva; Ivo J P Arnhold; Berenice B Mendonca
Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty.
Clinical endocrinology 2003;59(4):533-4.
2003: Karla F S Melo; Berenice B Mendonca; Ana Elisa C Billerbeck; Elaine Maria Frade Costa; Marlene Inácio; Frederico A Q Silva; Angela M O Leal; Ana Claudia Latronico; Ivo J P Arnhold
Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.
The Journal of clinical endocrinology and metabolism 2003;88(7):3241-50.
2003: Eveline G P Silva; Natasha Slhessarenko; Ivo J P Arnhold; Marcelo C Batista; Vivian Estefan; Maria Geralda Farah Osorio; Suemi Marui; Berenice B Mendonca
GH values after clonidine stimulation measured by immunofluorometric assay in normal prepubertal children and GH-deficient patients.
Hormone research 2003;59(5):229-33.
2002: Maria Geralda Farah Osorio; Suemi Marui; Alexander A L Jorge; Ana Claudia Latronico; Leonard S S Lo; Claudia C Leite; Vivian Estefan; Berenice B Mendonca; Ivo J P Arnhold
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.
The Journal of clinical endocrinology and metabolism 2002;87(11):5076-84.
2002: Ana Elisa C Billerbeck; Berenice B Mendonca; Emilia Pinto; Guiomar Madureira; Ivo J P Arnhold; Tânia A S S Bachega
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.
The Journal of clinical endocrinology and metabolism 2002;87(9):4314-7.
2002: Karla F S Melo; Regina M Martin; Elaine Maria Frade Costa; Filomena Marino Carvalho; Alexander A L Jorge; Ivo J P Arnhold; Berenice B Mendonca
An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.
The Journal of clinical endocrinology and metabolism 2002;87(6):2500-5.
2002: Berenice B Mendonca; Maristela V Leite; Margaret de Castro; Tomoshige Kino; L L K Elias; Tânia A S S Bachega; Ivo J P Arnhold; George Chrousos; Ana Claudia Latronico
Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.
The Journal of clinical endocrinology and metabolism 2002;87(4):1805-9.
2002: Tânia A S S Bachega; Enecy M L Brenlha; Ana Elisa C Billerbeck; José A M Marcondes; Guiomar Madureira; Ivo J P Arnhold; Berenice B Mendonca
Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations.
The Journal of clinical endocrinology and metabolism 2002;87(2):786-90.
2002: Alexander A L Jorge; Silvia C Souza; Ivo J P Arnhold; Berenice B Mendonca
Poor reproducibility of IGF-I and IGF binding protein-3 generation test in children with short stature and normal coding region of the GH receptor gene.
The Journal of clinical endocrinology and metabolism 2002;87(2):469-72.
2001: Sorahia Domenice; Ana Claudia Latronico; Vinicius Nahime Brito; Ivo J P Arnhold; F Kok; Berenice B Mendonca
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.
The Journal of clinical endocrinology and metabolism 2001;86(9):4068-71.
2001: Elaine Maria Frade Costa; Gregoy Y Bedecarrats; Berenice B Mendonca; Ivo J P Arnhold; Ursula B Kaiser; Ana Claudia Latronico
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
The Journal of clinical endocrinology and metabolism 2001;86(6):2680-6.
2001: LR Giacaglia; Berenice B Mendonca; Guiomar Madureira; Karla F S Melo; C A Suslik; Ivo J P Arnhold; Tânia A S S Bachega
Adrenal nodules in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: regression after adequate hormonal control.
Journal of pediatric endocrinology & metabolism : JPEM 2001;14(4):415-9.
2001: Luciani R Carvalho; L Y Mimura; Ivo J P Arnhold; Berenice B Mendonca
Premature thelarche in girls after growth hormone therapy.
The Journal of pediatrics 2001;138(3):448-9.
2000: Ana Claudia Latronico; Hiromitsu Shinozaki; G Guerra; M A Pereira; Sofia H V Lemos-Marini; Maria Tereza M Baptista; Ivo J P Arnhold; Francesca Fanelli; Berenice B Mendonca; Deborah L Segaloff
Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.
The Journal of clinical endocrinology and metabolism 2000;85(12):4799-805.
2000: Ana Claudia Latronico; Theresa S Soares Lins; Vinicius Nahime Brito; Ivo J P Arnhold; Berenice B Mendonca
The effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary-gonadal axis in both sexes.
Clinical endocrinology 2000;53(5):609-13.
2000: Tânia A S S Bachega; Ana Elisa C Billerbeck; Guiomar Madureira; José A M Marcondes; Carlos Longui; Maristela V Leite; Ivo J P Arnhold; Berenice B Mendonça
21-Hydroxylase deficiency in Brazil.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2000;33(10):1211-6.
2000: Berenice B Mendonca; M Inacio; Ivo J P Arnhold; Elaine Maria Frade Costa; W Bloise; R M Martin; Francisco T Denes; Frederico A Q Silva; A S Andersson; A Lindqvist; J D Wilson
Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management.
Medicine 2000;79(5):299-309.
2000: Maria Geralda Farah Osorio; P Kopp; Suemi Marui; Ana Claudia Latronico; Berenice B Mendonca; Ivo J P Arnhold
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.
The Journal of clinical endocrinology and metabolism 2000;85(8):2779-85.
2000: Tânia A S S Bachega; Ana Elisa C Billerbeck; José A M Marcondes; Guiomar Madureira; Ivo J P Arnhold; Berenice B Mendonca
Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Clinical endocrinology 2000;52(5):601-7.
2000: Ivo J P Arnhold; SB Oliveira; Maria Geralda Farah Osorio; A J Carrilho; W Nicolau; Antonio Bianco; Berenice B Mendonca
Lack of reduction in body fat after treatment with insulin-like growth factor-I in two children with growth hormone gene deletions.
Journal of endocrinological investigation 2000;23(4):258-62.
2000: C J Lin; Alexander A L Jorge; Ana Claudia Latronico; Suemi Marui; Maria Candida B Villares Fragoso; Regina M Martin; Filomena Marino Carvalho; Ivo J P Arnhold; Berenice B Mendonca
Origin of an ovarian steroid cell tumor causing isosexual pseudoprecocious puberty demonstrated by the expression of adrenal steroidogenic enzymes and adrenocorticotropin receptor.
The Journal of clinical endocrinology and metabolism 2000;85(3):1211-4.
2000: Suemi Marui; M Castro; Ana Claudia Latronico; L L K Elias; Ivo J P Arnhold; Ayrton C Moreira; Berenice B Mendonca
Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls.
Clinical endocrinology 2000;52(1):67-75.
1999: Ivo J P Arnhold; Ana Claudia Latronico; M C Batista; C R Izzo; B B Mendonca
Clinical features of women with resistance to luteinizing hormone.
Clinical endocrinology 1999;51(6):701-7.
1999: Vinicius Nahime Brito; MC Batista; M F Borges; Ana Claudia Latronico; Maria Beatriz Kohek; A C Thirone; B H Jorge; Ivo J P Arnhold; Berenice B Mendonca
Diagnostic value of fluorometric assays in the evaluation of precocious puberty.
The Journal of clinical endocrinology and metabolism 1999;84(10):3539-44.
1999: Karla F S Melo; Ana Claudia Latronico; Elaine Maria Frade Costa; Ana Elisa C Billerbeck; Berenice B Mendonca; Ivo J P Arnhold
A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome.
Human mutation 1999;14(4):353.
1999: Ana Elisa C Billerbeck; Tânia A S S Bachega; E T Frazatto; Mirian Y Nishi; A C Goldberg; M L Marin; Guiomar Madureira; Osmar Monte; Ivo J P Arnhold; Berenice B Mendonca
A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism 1999;84(8):2870-2.
1999: Ivo J P Arnhold; SB Oliveira; Maria Geralda Farah Osorio; Berenice B Mendonca
Insulin-like growth factor-I treatment in two children with growth hormone gene deletions.
Journal of pediatric endocrinology & metabolism : JPEM 1999;12(4):499-506.
1999: Ivo J P Arnhold; Ana Claudia Latronico; M C Batista; Berenice B Mendonca
Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene.
Fertility and sterility 1999;71(4):597-601.
1999: V N de Brito; Ana Claudia Latronico; Ivo J P Arnhold; Leonard S S Lo; Sorahia Domenice; M C Albano; Maria Candida B Villares Fragoso; Berenice B Mendonca
Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot.
Archives of disease in childhood 1999;80(3):231-4.
1999: Berenice B Mendonca; Maria Geralda Farah Osorio; Ana Claudia Latronico; Vivian Estefan; Leonard S S Lo; Ivo J P Arnhold
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.
The Journal of clinical endocrinology and metabolism 1999;84(3):942-5.
1999: Berenice B Mendonca; Ivo J P Arnhold; W Bloise; A S Andersson; D W Russell; J D Wilson
17Beta-hydroxysteroid dehydrogenase 3 deficiency in women.
The Journal of clinical endocrinology and metabolism 1999;84(2):802-4.
1999: Tânia A S S Bachega; Ana Elisa C Billerbeck; Guiomar Madureira; Ivo J P Arnhold; Maria Aparecida Medeiros; José A M Marcondes; Carlos Longui; W Nicolau; W Bloise; Berenice B Mendonca
Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency.
Human heredity 1999;49(1):9-14.
1998: Tânia A S S Bachega; Ana Elisa C Billerbeck; Guiomar Madureira; José A M Marcondes; Carlos Longui; Maristela V Leite; Ivo J P Arnhold; Berenice B Mendonca
Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism 1998;83(12):4416-9.
1998: Carlos Longui; Ivo J P Arnhold; Berenice B Mendonca; A F D'Osvaldo; W Bloise
Serum inhibin levels before and after gonadotropin stimulation in cryptorchid boys under age 4 years.
Journal of pediatric endocrinology & metabolism : JPEM 1998;11(6):687-92.
1998: Ivo J P Arnhold; Marcia Nery; Milton R. Brown; ty voss; TC VanderHeyden; ME Adess; David L Hurley; Bernardo L Wajchenberg; John Parks
Clinical and molecular characterization of a Brazilian patient with Pit-1 deficiency.
Journal of pediatric endocrinology & metabolism : JPEM 1998;11(5):623-30.
1998: Joy D Cogan; W Wu; John A Phillips; Ivo J P Arnhold; A Agapito; O V Fofanova; Maria Geralda Farah Osorio; I Bircan; A Moreno; Berenice B Mendonca
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.
The Journal of clinical endocrinology and metabolism 1998;83(9):3346-9.
1998: Ana Claudia Latronico; Amy N Abell; Ivo J P Arnhold; Xiaoming Liu; Theresa S Soares Lins; Vinicius Nahime Brito; Ana Elisa C Billerbeck; Deborah L Segaloff; Berenice B Mendonca
A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.
The Journal of clinical endocrinology and metabolism 1998;83(7):2435-40.
1998: Ivo J P Arnhold; Maria Geralda Farah Osorio; SB Oliveira; Vivian Estefan; T Kamijo; MR Krishnamani; Joy D Cogan; J A Phillips; Berenice B Mendonca
Clinical and molecular characterization of Brazilian patients with growth hormone gene deletions.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 1998;31(4):491-7.
1998: Ana Claudia Latronico; Y Chai; Ivo J P Arnhold; X Liu; B B Mendonca; Deborah L Segaloff
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.
Molecular endocrinology (Baltimore, Md.) 1998;12(3):442-50.
1997: M C Albano; Ana Claudia Latronico; Ivo J P Arnhold; Sorahia Domenice; W Bloise; Berenice B Mendonca
Long-acting gonadotropin-releasing hormone agonists in the differential diagnosis of male precocious puberty.
Journal of pediatric endocrinology & metabolism : JPEM 1997;10(5):499-503.
1997: Ivo J P Arnhold; Ana Claudia Latronico; MC Batista; Filomena Marino Carvalho; George Chrousos; Berenice B Mendonça
Ovarian resistance to luteinizing hormone: a novel cause of amenorrhea and infertility.
Fertility and sterility 1997;67(2):394-7.
1997: Elaine Maria Frade Costa; Berenice B Mendonca; M Inácio; Ivo J P Arnhold; Frederico A Q Silva; O Lodovici
Management of ambiguous genitalia in pseudohermaphrodites: new perspectives on vaginal dilation.
Fertility and sterility 1997;67(2):229-32.
1996: Berenice B Mendonca; M Inacio; E M Costa; Ivo J P Arnhold; F A Silva; W Nicolau; W Bloise; D W Russel; J D Wilson
Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management.
Medicine 1996;75(2):64-76.
1996: Ana Claudia Latronico; James N Anasti; Ivo J P Arnhold; R Rapaport; Berenice B Mendonca; W Bloise; M Castro; Constantine Tsigos; George Chrousos
Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.
The New England journal of medicine 1996;334(8):507-12.
1995: L Milewich; Berenice B Mendonca; Ivo J P Arnhold; A M Wallace; M D Donaldson; Jean D Wilson; David W Russell
Women with steroid 5 alpha-reductase 2 deficiency have normal concentrations of plasma 5 alpha-dihydroprogesterone during the luteal phase.
The Journal of clinical endocrinology and metabolism 1995;80(11):3136-9.
1995: Ana Claudia Latronico; James N Anasti; Ivo J P Arnhold; Berenice B Mendonça; Sorahia Domenice; M C Albano; Keith Zachman; B L Wajchenberg; Constantine Tsigos
A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.
The Journal of clinical endocrinology and metabolism 1995;80(8):2490-4.
1995: K Murono; Berenice B Mendonca; Ivo J P Arnhold; A C Rigon; Claude J Migeon; Terry R Brown
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
Human mutation 1995;6(2):152-62.
1994: Berenice B Mendonça; A S Barbosa; Ivo J P Arnhold; Ken McElreavey; Marc Fellous; Carlos A Moreira-Filho
Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene.
American journal of medical genetics 1994;52(1):39-43.
1994: Berenice B Mendonça; A J Russell; M Vasconcelos-Leite; Ivo J P Arnhold; W Bloise; Bernardo L Wajchenberg; W Nicolau; R G Sutcliffe; A M Wallace
Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females.
Journal of molecular endocrinology 1994;12(1):119-22.
1993: M M Andrade; A A Benedito-Silva; Sorahia Domenice; Ivo J P Arnhold; L Menna-Barreto
Sleep characteristics of adolescents: a longitudinal study.
The Journal of adolescent health : official publication of the Society for Adolescent Medicine 1993;14(5):401-6.
1991: M V Leite; Berenice B Mendonça; Ivo J P Arnhold; Vivian Estefan; C Nunes; W Nicolau; W Bloise
Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche.
Journal of endocrinological investigation 1991;14(1):11-5.
1988: Berenice B Mendonça; Ivo J P Arnhold; W Nicolau; V A Avancini; W Boise
Cushing's syndrome due to ectopic ACTH secretion by bilateral pheochromocytomas in multiple endocrine neoplasia type 2A.
The New England journal of medicine 1988;319(24):1610-1.
1988: Ivo J P Arnhold; Berenice B Mendonça; Helio Bisi; F O Russo; W Nicolau; W Bloise; Carlos A Moreira-Filho
Normal expression of the serologically defined H-Y antigen in Leydig cell hypoplasia.
The Journal of urology 1988;140(6):1549-52.
1988: Ivo J P Arnhold; Berenice B Mendonça; J A Diaz; C Nogueira; M C Batista; Guiomar Madureira; D Oliveira; W Nicolau; W Bloise
Prepubertal male pseudohermaphroditism due to 17-ketosteroid reductase deficiency: diagnostic value of a hCG test and lack of HLA association.
Journal of endocrinological investigation 1988;11(4):319-22.
1987: Berenice B Mendonca; W Bloise; Ivo J P Arnhold; M C Batista; sergio toledo; M C Drummond; W Nicolau; E Mattar
Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty.
Journal of steroid biochemistry 1987;28(6):669-75.
1987: M C Batista; Ivo J P Arnhold; Berenice B Mendonça; F H D'Abronzo; W Bloise; W Nicolau
Low-dose oral clonidine: effective growth hormone releasing agent in children but not in adolescents.
The Journal of pediatrics 1987;111(4):564-7.
1987: Ivo J P Arnhold; B B de Mendonça; sergio toledo; Guiomar Madureira; W Nicolau; Helio Bisi; W Bloise
Leydig cell hypoplasia causing male pseudohermaphroditism: case report and review of the literature.
Revista do Hospital das Clínicas 1987;42(5):227-32.
1987: Berenice B Mendonça; M C Batista; Ivo J P Arnhold; W Nicolau; Guiomar Madureira; V S Lando; Maria Beatriz Kohek; D G Carvalho; W Bloise
Male pseudohermaphroditism due to 5 alpha reductase deficiency associated with gynecomastia.
Revista do Hospital das Clínicas 1987;42(2):66-8.
1987: P H Saldanha; Ivo J P Arnhold; Berenice B Mendonça; W Bloise; sergio toledo
A clinico-genetic investigation of Leydig cell hypoplasia.
American journal of medical genetics 1987;26(2):337-44.
1986: M C Batista; Berenice B Mendonça; C E Kater; Ivo J P Arnhold; A Rocha; W Nicolau; W Bloise
Spironolactone-reversible rickets associated with 11 beta-hydroxysteroid dehydrogenase deficiency syndrome.
The Journal of pediatrics 1986;109(6):989-93.
1985: Ivo J P Arnhold; Berenice B Mendonça; W Bloise; sergio toledo
Male pseudohermaphroditism resulting from Leydig cell hypoplasia.
The Journal of pediatrics 1985;106(6):1057.
1985: sergio toledo; Ivo J P Arnhold; W Luthold; E M Russo; P H Saldanha
Leydig cell hypoplasia determining familial hypergonadotropic hypogonadism.
Progress in clinical and biological research 1985;200():311-4.