Arnhold, Ivo J P : rechercher sur Z-Library

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1

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)

Leal, Andrea C., Montenegro, Luciana R., Saito, Renata F., Ribeiro, Tamaya C., Coutinho, Debora C., Mendonca, Berenice B., Arnhold, Ivo J. P., Jorge, Alexander A. L.

Journal:

Clinical Endocrinology

Année:

2013

Langue:

english

Fichier:

PDF, 498 KB

english, 2013

2

Three Novel Mutations in CYP21 Gene in Brazilian Patients with the Classical Form of 21-Hydroxylase Deficiency Due to a Founder Effect

Billerbeck, Ana Elisa C., Mendonca, Berenice B., Pinto, Emilia M., Madureira, Guiomar, Arnhold, Ivo J. P., Bachega, Tânia A. S. S.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2002

Langue:

english

Fichier:

PDF, 87 KB

english, 2002

3

Gonadotropin-Independent Precocious Puberty Due to Luteinizing Hormone Receptor Mutations in Brazilian Boys: A Novel Constitutively Activating Mutation in the First Transmembrane Helix 1

Latronico, Ana Claudia, Shinozaki, Hiromitsu, Guerra Jr., Gil, Pereira, Maria Adelaide A., Lemos Marini, Sofia Helena V., Baptista, Maria Tereza M., Arnhold, Ivo Jorge P., Fanelli, Francesca, Mendonca

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2000

Langue:

english

Fichier:

PDF, 878 KB

english, 2000

4

Tratamento da deficiência do hormônio de crescimento (GH) em crianças: comparação entre o uso de canetas versus frascos/seringas para a aplicação do GH

Marchisotti, Frederico G., Carvalho, Luciani R.S., Berger, Karina, Arnhold, Ivo J.P., Mendonça, Berenice B.

Journal:

Arquivos Brasileiros de Endocrinologia & Metabologia

Année:

2007

Fichier:

PDF, 58 KB

2007

5

Bases Genéticas dos Distúrbios de Crescimento

Marui, Suemi, Souza, Silvia Leão Corral, Carvalho, Luciani R. S. de, Jorge, Alexander A. de Lima, Mendonça, Berenice B. de, Arnhold, Ivo J. Prado

Journal:

Arquivos Brasileiros de Endocrinologia & Metabologia

Année:

2002

Fichier:

PDF, 115 KB

2002

6

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

Karla F.S. Melo, Ana Claudia Latronico, Elaine M.F. Costa, Ana Elisa C. Billerbeck, Berenice B. Mendonca, Ivo J.P. Arnhold

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 14 KB

english, 1999

7

Gonadal agenesis in XX and XY sisters: Evidence for the involvement of an autosomal gene

Berenice B. Mendonça, Ǎngela S. Barbosa, Ivo J. P. Arnhold, Ken McElreavey, Marc Fellous, Carlos A. Moreira-Filho

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 820 KB

english, 1994

8

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

Koichi Murono, Berenice B. Mendonca, Ivo J. P. Arnhold, Ana C. M. M. Rigon, Claude J. Migeon, Terry R. Brown

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 1008 KB

english, 1995

9

Clinical features of women with resistance to luteinizing hormone

Ivo J.P. Arnhold, Ana C. Latronico, Marcelo C. Batista, Carlos R. Izzo, Berenice B. Mendonca

Journal:

Clinical Endocrinology

Année:

1999

Langue:

english

Fichier:

PDF, 95 KB

english, 1999

10

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

Tânia A. S. S. Bachega, Ana E. C. Billerbeck, José A. M. Marcondes, Guiomar Madureira, Ivo J. P. Arnhold, Berenice B. Mendonca

Journal:

Clinical Endocrinology

Année:

2000

Langue:

english

Fichier:

PDF, 90 KB

english, 2000

11

The effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary–gonadal axis in both sexes

Ana Claudia Latronico, Teresa Selma S. Lins, Vinicius Nahime Brito, Ivo Jorge P. Arnhold, Berenice B. Mendonca

Journal:

Clinical Endocrinology

Année:

2000

Langue:

english

Fichier:

PDF, 81 KB

english, 2000

12

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

Ana Claudia Latronico, Ana Elisa C. Billerbeck, Emilia Modolo Pinto, Catarina Brazil d’Alva, Ivo Jorge P. Arnhold, Berenice B. Mendonca

Journal:

Clinical Endocrinology

Année:

2003

Langue:

english

Fichier:

PDF, 125 KB

english, 2003

13

Acromegalic features in growth hormore (GH)-deficient patients after long-term GH therapy

Luciani R. Carvalho, Maria Estela Justamante de Faria, Maria Geralda Farah Osorio, Vivian Estefan, Alexander Augusto Lima Jorge, Ivo Jorge Prado Arnhold, Berenice Bilharinho Mendonca

Journal:

Clinical Endocrinology

Année:

2003

Langue:

english

Fichier:

PDF, 76 KB

english, 2003

14

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

Alexander A. L. Jorge, Silvia C. A. L. Souza, Ivo J. P. Arnhold, Berenice B. Mendonca

Journal:

Clinical Endocrinology

Année:

2004

Langue:

english

Fichier:

PDF, 112 KB

english, 2004

15

A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin-independent precocious puberty

Catarina B. D’Alva, Vinicius N. Brito, Heloisa M. C. Palhares, Filomena M. Carvalho, Ivo J. P. Arnhold, Berenice B. Mendonca, Ana Claudia Latronico

Journal:

Clinical Endocrinology

Année:

2006

Langue:

english

Fichier:

PDF, 92 KB

english, 2006

16

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

Alexander A. L. Jorge, Silvia C. Souza, Miriam Y. Nishi, Ana E. Billerbeck, Débora C. C. Libório, Chong A. Kim, Ivo J. P. Arnhold, Berenice B. Mendonca

Journal:

Clinical Endocrinology

Année:

2007

Langue:

english

Fichier:

PDF, 267 KB

english, 2007

17

Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe

Maria Edna Melo, Suemi Marui, Luciani Renata Carvalho, Ivo Jorge Prado Arnhold, Claudia Costa Leite, Berenice Bilharinho Mendonça, Mirta Knoepfelmacher

Journal:

Clinical Endocrinology

Année:

2007

Langue:

english

Fichier:

PDF, 126 KB

english, 2007

18

Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature

Marcos T. K. Toyoshima, Luciana A. Castroneves, Everlayny F. Costalonga, Berenice B. Mendonca, Ivo J. P. Arnhold, Alexander A. L. Jorge

Journal:

Clinical Endocrinology

Année:

2007

Langue:

english

Fichier:

PDF, 146 KB

english, 2007

19

46,XY disorders of sex development (DSD)

Berenice Bilharinho Mendonca, Sorahia Domenice, Ivo J. P. Arnhold, Elaine M. F. Costa

Journal:

Clinical Endocrinology

Année:

2009

Langue:

english

Fichier:

PDF, 493 KB

english, 2009

20

Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole

Madson Queiroz Almeida, Vinicius Nahime Brito, Thereza Selma S. Lins, Gil Guerra-Junior, Margaret De Castro, Sonir Roberto Antonini, Ivo Jorge Prado Arnhold, Berenice Bilharinho Mendonca, Ana Claudia

Journal:

Clinical Endocrinology

Année:

2008

Langue:

english

Fichier:

PDF, 127 KB

english, 2008

21

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

Lize V. Ferreira, Silvia C. A. L. Souza, Luciana R. Montenegro, Alexsandra C. Malaquias, Ivo J. P. Arnhold, Berenice B. Mendonca, Alexander A. L. Jorge

Journal:

Clinical Endocrinology

Année:

2008

Langue:

english

Fichier:

PDF, 110 KB

english, 2008

22

Clarification of intellectual abilities in patients with GLI2 mutations cited by kevelam et al., 2012 Am J med genet part A

Marcela M. França, Ivo J.P. Arnhold

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 48 KB

english, 2012

23

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway

Alexsandra C. Malaquias, Amanda S. Brasil, Alexandre C. Pereira, Ivo J.P. Arnhold, Berenice B. Mendonca, Debora R. Bertola, Alexander A.L. Jorge

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 371 KB

english, 2012

24

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

Berenice B. Mendonca, Walter Bloise, Ivo Jorge Prado Arnhold, Marcelo Cidade Batista, Sergio Pereira De Almeida Toledo, Maria Cristina F. Drummond, Wilian Nicolau, Emilio Mattar

Journal:

Journal of Steroid Biochemistry

Année:

1987

Langue:

english

Fichier:

PDF, 702 KB

english, 1987

25

Usefulness of MLPA in the detection of SHOX deletions

Mariana F.A. Funari, Alexander A.L. Jorge, Silvia C.A.L. Souza, Ana E.C. Billerbeck, Ivo J.P. Arnhold, Berenice B. Mendonca, Mirian Y. Nishi

Journal:

European Journal of Medical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 381 KB

english, 2010

26

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

Frederico Guimarães Marchisotti, Alexander Augusto Lima Jorge, Luciana Ribeiro Montenegro, Karina Berger, Luciani Renata Silveira de Carvalho, Berenice Bilharinho Mendonca, Ivo Jorge Prado Arnhold

Journal:

Growth Hormone & IGF Research

Année:

2009

Langue:

english

Fichier:

PDF, 167 KB

english, 2009

27

Long-Term Surgical Outcome of Masculinizing Genitoplasty in a Large Cohort of Patients With Disorders of Sex Development (DSD)

Maria Helena Sircili, Frederico Arnaldo Queiroz E Silva, Elaine M.F. Costa, Vinicius Brito, Ivo Jp Arnhold, Francisco Tibor Dénes, Marlene Inacio, Berenice Bilharinho Mendonca

Journal:

Journal of Pediatric Urology

Année:

2010

Langue:

english

Fichier:

PDF, 40 KB

english, 2010

28

Effects of acute and chronic zinc administration on growth velocity in patients with hypopituitarism

Vivian Estefan, Berenice B. Mendonça, Ivo J.P. Arnhold, Wilian Nicolau, José Brandão-Neto

Journal:

Nutrition Research

Année:

1998

Langue:

english

Fichier:

PDF, 915 KB

english, 1998

29

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly

França, Marcela M., Jorge, Alexander A. L., Carvalho, Luciani R. S., Costalonga, Everlayny F., Otto, Aline P., Correa, Fernanda A., Mendonca, Berenice B., Arnhold, Ivo J. P.

Journal:

Clinical Endocrinology

Année:

2013

Langue:

english

Fichier:

PDF, 557 KB

english, 2013

30

Management of ambiguous genitalia in pseudohermaphrodites: New perspectives on vaginal dilation

Elaine Maria Frade Costa, Berenice Bilharinho Mendonca, Marlene Inácio, Ivo Jorge Prado Arnhold, Frederico Antonio Queiroz Silva, Orlando Lodovici

Journal:

Fertility and Sterility

Année:

1997

Langue:

english

Fichier:

PDF, 486 KB

english, 1997

31

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

Ivo Jorge Prado Arnhold, Ana Claudia Latronico, Marcelo Cidade Batista, Filomena Marino Carvalho, George Panagiotis Chrousos, Berenice Bilharinho Mendonça

Journal:

Fertility and Sterility

Année:

1997

Langue:

english

Fichier:

PDF, 416 KB

english, 1997

32

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

Ivo Jorge Prado Arnhold, Ana Claudia Latronico, Marcelo Cidade Batista, Berenice Bilharinho Mendonca

Journal:

Fertility and Sterility

Année:

1999

Langue:

english

Fichier:

PDF, 61 KB

english, 1999

33

Male pseudohermaphroditism resulting from Leydig cell hypoplasia

Ivo J.P. Arnhold, Berenice B. Mendonça, Walter Bloise, Sérgio P.A. Toledo

Journal:

The Journal of Pediatrics

Année:

1985

Langue:

english

Fichier:

PDF, 103 KB

english, 1985

34

Spironolactone-reversible rickets associated with 11β-hydroxysteroid dehydrogenase deficiency syndrome

Marcelo C. Batista, Berenice B. Mendonça, Cláudio E. Kater, Ivo J.P. Arnhold, Antonino Rocha, Wilian Nicolau, Walter Bloise

Journal:

The Journal of Pediatrics

Année:

1986

Langue:

english

Fichier:

PDF, 920 KB

english, 1986

35

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

Marcelo C. Batista, J.P. Ivo Arnhold, Berenice B. Mendonça, Francisco H. D'Abronzo, Walter Bloise, Wilian Nicolau

Journal:

The Journal of Pediatrics

Année:

1987

Langue:

english

Fichier:

PDF, 377 KB

english, 1987

36

Sleep characteristics of adolescents: A longitudinal study

Miriam M.M. Andrade, Ana A. Benedito-Silva, Sorahia Domenice, Ivo J.P. Arnhold, Luiz Menna-Barreto

Journal:

Journal of Adolescent Health

Année:

1993

Langue:

english

Fichier:

PDF, 500 KB

english, 1993

37

Growth Hormone Receptor Exon 3 Isoforms and Their Implication in Growth Disorders and Treatment

Jorge, Alexander A.L., Arnhold, Ivo J.P.

Journal:

Hormone Research

Année:

2009

Langue:

english

Fichier:

PDF, 266 KB

english, 2009

38

46,XY disorders of sex development (DSD)

Mendonca, Berenice Bilharinho, Domenice, Sorahia, Arnhold, Ivo J. P., Costa, Elaine M. F.

Journal:

Clinical Endocrinology

Année:

2009

Langue:

english

Fichier:

PDF, 485 KB

english, 2009

39

Molecular and Gene Network Analysis of Thyroid Transcription Factor 1 (TTF1) and Enhanced at Puberty (EAP1) Genes in Patients with GnRH-Dependent Pubertal Disorders

Cukier, Priscilla, Wright, Hollis, Rulfs, Tomke, Silveira, Leticia Ferreira Gontijo, Teles, Milena Gurgel, Mendonca, Berenice Bilharinho, Arnhold, Ivo J.P., Heger, Sabine, Latronico, Ana Claudia, Ojed

Journal:

Hormone Research in Paediatrics

Année:

2013

Langue:

english

Fichier:

PDF, 365 KB

english, 2013

40

Heterozygous Mutations in Natriuretic Peptide Receptor-B ( NPR2 ) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

Vasques, Gabriela A., Amano, Naoko, Docko, Ana J., Funari, Mariana F. A., Quedas, Elisangela P. S., Nishi, Mirian Y., Arnhold, Ivo J. P., Hasegawa, Tomonobu, Jorge, Alexander A. L.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 971 KB

english, 2013

41

Long-Term Surgical Outcome of Masculinizing Genitoplasty in Large Cohort of Patients With Disorders of Sex Development

Sircili, Maria Helena Palma, de Queiroz e Silva, Frederico Arnaldo, Costa, Elaine M.F., Brito, Vinicius N., Arnhold, Ivo J.P., Dénes, Francisco Tibor, Inacio, Marlene, de Mendonca, Berenice Bilharinho

Journal:

The Journal of Urology

Année:

2010

Langue:

english

Fichier:

PDF, 803 KB

english, 2010

42

The benign spectrum of hypothalamic hamartomas: Infrequent epilepsy and normal cognition in patients presenting with central precocious puberty

Cukier, Priscilla, Castro, Luiz Henrique Martins, Banaskiwitz, Natalie, Teles, Leandro Roberto, Ferreira, Luiz Roberto Kobuti, Adda, Carla Cristina, da Costa Leite, Claudia, Arnhold, Ivo J.P., Mendonc

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 330 KB

english, 2013

43

Premature thelarche in girls after growth hormone therapy

Carvalho, Luciani R.S., Mimura, Lidia Y., Arnhold, Ivo J.P., Mendonca, Berenice B.

Journal:

The Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 43 KB

english, 2001

44

SHORT AND LONG-TERM SURGICAL OUTCOME OF MASCULINIZING GENITOPLASTY IN A LARGE COHORT OF PATIENTS WITH DISORDERS OF SEX DEVELOPMENT (DSD)

Denes, Francisco T, Sircili, Maria, Silva, Frederico, Costa, Elaine M.F., Brito, Vinicius N, Arnhold, Ivo J.P., Mendonca, Berenice B, Srougi, Miguel

Journal:

The Journal of Urology

Année:

2009

Langue:

english

Fichier:

PDF, 46 KB

english, 2009

45

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort

Lido, Andria C.V., França, Marcela M., Correa, Fernanda A., Otto, Aline P., Carvalho, Luciani R., Quedas, Elisangela P.S., Nishi, Mirian Y., Mendonca, Berenice B., Arnhold, Ivo J.P., Jorge, Alexander

Journal:

Growth Hormone & IGF Research

Année:

2014

Langue:

english

Fichier:

PDF, 999 KB

english, 2014

46

Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre

Cassia Amaral, Rita, Inacio, Marlene, Brito, Vinicius N., Bachega, Tania A. S. S., Oliveira, Ari A., Domenice, Sorahia, Denes, Francisco T., Sircili, Maria Helena, Arnhold, Ivo J. P., Madureira, Guiom

Journal:

Clinical Endocrinology

Année:

2015

Langue:

english

Fichier:

PDF, 209 KB

english, 2015

47

Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders

Vasques, Gabriela A., Arnhold, Ivo J.P., Jorge, Alexander A.L.

Journal:

Hormone Research in Paediatrics

Année:

2014

Langue:

english

Fichier:

PDF, 884 KB

english, 2014

48

Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene

Melo, Karla F. S., Mendonca, Berenice B., Billerbeck, Ana Elisa C., Costa, Elaine M. F., Inácio, Marlene, Silva, Frederico A. Q., Leal, Angela M. O., Latronico, Ana C., Arnhold, Ivo J. P.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2003

Langue:

english

Fichier:

PDF, 127 KB

english, 2003

49

Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism

Braz, Adriana F., Costalonga, Everlayny F., Trarbach, Ericka B., Scalco, Renata C., Malaquias, Alexsandra C., Guerra-Junior, Gil, Antonini, Sonir R. R., Mendonca, Berenice B., Arnhold, Ivo J. P., Jorg

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 684 KB

english, 2014

50

Inactivating Mutations of Luteinizing Hormone β-Subunit or Luteinizing Hormone Receptor Cause Oligo-Amenorrhea and Infertility in Women

Arnhold, Ivo Jorge, Lofrano-Porto, Adriana, Latronico, Ana Claudia

Journal:

Hormone Research

Année:

2009

Langue:

english

Fichier:

PDF, 316 KB

english, 2009