Search Results - "Arnhold, Ivo JP"

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

“…Context: Based on the stature observed in relatives of patients with acromesomelic dysplasia, type Maroteaux, homozygous for mutations in natriuretic peptide…”
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The phenotypic spectrum associated with OTX2 mutations in humans by Gregory, Louise C, Gergics, Peter, Nakaguma, Marilena, Bando, Hironori, Patti, Giuseppa, McCabe, Mark J, Fang, Qing, Ma, Qianyi, Ozel, Ayse Bilge, Li, Jun Z, Poina, Michele Moreira, Jorge, Alexander A L, Benedetti, Anna F Figueredo, Lerario, Antonio M, Arnhold, Ivo J P, Mendonca, Berenice B, Maghnie, Mohamad, Camper, Sally A, Carvalho, Luciani R S, Dattani, Mehul T

“…Objective The transcription factor OTX2is implicated in ocular, craniofacial, and pituitary development. Design We aimed to establish the contribution of OTX2…”
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HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype by Fang, Qing, Benedetti, Anna Flavia Figueredo, Ma, Qianyi, Gregory, Louise, Li, Jun Z., Dattani, Mehul, Sadeghi-Nejad, Abdollah, Arnhold, Ivo J.P., Mendonca, Berenice Bilharinho, Camper, Sally A., Carvalho, Luciani R.

“…Summary Introduction Mutations in the transcription factor HESX1 can cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency…”
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Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations by Dusatkova, Petra, Pfäffle, Roland, Brown, Milton R, Akulevich, Natallia, Arnhold, Ivo J P, Kalina, Maria A, Kot, Karolina, Krzisnik, Ciril, Lemos, Manuel C, Malikova, Jana, Navardauskaite, Ruta, Obermannova, Barbora, Pribilincova, Zuzana, Sallai, Agnes, Stipancic, Gordana, Verkauskiene, Rasa, Cinek, Ondrej, Blum, Werner F, Parks, John S, Austerlitz, Frederic, Lebl, Jan

“…Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined…”
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Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly by França, Marcela M, Jorge, Alexander A. L, Carvalho, Luciani R. S, Costalonga, Everlayny F, Vasques, Gabriela A, Leite, Claudia C, Mendonca, Berenice B, Arnhold, Ivo J. P

“…Context: GLI2 is a transcription factor downstream in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. GLI2 mutations…”
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Reprint of “Steroid 5a-reductase 2 deficiency” by Mendonca, Berenice B, Batista, Rafael Loch, Domenice, Sorahia, Costa, Elaine MF, Arnhold, Ivo JP, Russell, David W, Wilson, Jean D

“…Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of 5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a…”
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Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations by Madeira, Joao LO, Nishi, Mirian Y, Nakaguma, Marilena, Benedetti, Anna F, Biscotto, Isabela Peixoto, Fernandes, Thamiris, Pequeno, Thiago, Figueiredo, Thalita, Franca, Marcela M, Correa, Fernanda A, Otto, Aline P, Abrão, Milena, Miras, Mirta B, Santos, Silvana, Jorge, Alexander AL, Costalonga, Everlayny F, Mendonca, Berenice B, Arnhold, Ivo JP, Carvalho, Luciani R

“…Summary Background Mutations in PROP1, HESX1 and LHX3 are associated with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe…”
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Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes by Correa, Fernanda A., Jorge, Alexander AL, Nakaguma, Marilena, Canton, Ana PM, Costa, Silvia S, Funari, Mariana F, Lerario, Antonio M, Franca, Marcela M, Carvalho, Luciani R, Krepischi, Ana CV, Arnhold, Ivo JP, Rosenberg, Carla, Mendonca, Berenice B

“…Summary Objectives The aetiology of congenital hypopituitarism (CH) is unknown in most patients. Rare copy number variants (CNVs) have been implicated as the…”
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Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP 1 alterations with three novel mutations by Madeira, Joao LO, Nishi, Mirian Y, Nakaguma, Marilena, Benedetti, Anna F, Biscotto, Isabela Peixoto, Fernandes, Thamiris, Pequeno, Thiago, Figueiredo, Thalita, Franca, Marcela M, Correa, Fernanda A, Otto, Aline P, Abrão, Milena, Miras, Mirta B, Santos, Silvana, Jorge, Alexander AL, Costalonga, Everlayny F, Mendonca, Berenice B, Arnhold, Ivo JP, Carvalho, Luciani R

“…Summary Background Mutations in PROP 1 , HESX 1 and LHX 3 are associated with combined pituitary hormone deficiency ( CPHD ) and orthotopic posterior pituitary…”
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Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway by Malaquias, Alexsandra C., Brasil, Amanda S., Pereira, Alexandre C., Arnhold, Ivo J.P., Mendonca, Berenice B., Bertola, Debora R., Jorge, Alexander A.L.

“…Noonan syndrome (NS) and Noonan‐like syndromes (NLS) are autosomal dominant disorders caused by heterozygous mutations in genes of the RAS/MAPK pathway. The…”
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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 by Jorge, Alexander A. L., Marchisotti, Frederico G., Montenegro, Luciana R., Carvalho, Luciani R., Mendonca, Berenice B., Arnhold, Ivo J. P.

“…Context: A polymorphism in GHR gene, the presence or absence of exon 3, has been shown to influence the 1- and 2-yr growth responses to human recombinant GH…”
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Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center by Otto, Aline P., França, Marcela M., Correa, Fernanda A., Costalonga, Everlayny F., Leite, Claudia C., Mendonca, Berenice B., Arnhold, Ivo J. P., Carvalho, Luciani R. S., Jorge, Alexander A. L.

“…Background Children initially diagnosed with isolated GH deficiency (IGHD) have a variable rate to progress to combined pituitary hormone deficiency (CPHD)…”
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Molecular and gene network analysis of thyroid transcription factor 1 (TTF1) and enhanced at puberty (EAP1) genes in patients with GnRH-dependent pubertal disorders by 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, Ojeda, Sergio R, Brito, Vinicius Nahime

“…TTF1 and EAP1 are transcription factors that modulate gonadotropin-releasing hormone expression. We investigated the contribution of TTF1 and EAP1 genes to…”
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The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World? by Gonçalves, Fernanda T., Fridman, Cintia, Pinto, Emília M., Guevara-Aguirre, Jaime, Shevah, Orit, Rosembloom, Arlan L., Hwa, Vivian, Cassorla, Fernando, Rosenfeld, Ron G., Lins, Theresa S.S., Damiani, Durval, Arnhold, Ivo J.P., Laron, Zvi, Jorge, Alexander A.L.

“…Laron syndrome (LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) gene. The most frequent GHR mutation is E180splice…”
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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) by 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.

“…Summary Background Insulin‐like growth factor 1 insensitivity caused by IGF1R mutations has been previously identified as one of the causes of growth…”
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Clarification of intellectual abilities in patients with GLI2 mutations cited by kevelam et al., 2012 Am J med genet part A by França, Marcela M., Arnhold, Ivo J.P.

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GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects by Marui, Suemi, Trarbach, Ericka B, Boguszewski, Margaret C S, França, Marcela M, Jorge, Alexander A L, Inoue, Hiroshi, Nishi, Mirian Y, de Lacerda Filho, Luiz, Aguiar-Oliveira, Manuel H, Mendonca, Berenice B, Arnhold, Ivo J P

“…Mutations in GH-releasing hormone receptor gene (GHRHR) are emerging as the most common cause of autosomal recessive isolated GH deficiency (IGHD). To search…”
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Polymorphisms Identified in the Upstream Core Polyadenylation Signal of IGF1 Gene Exon 6 Do Not Cause Pre- and Postnatal Growth Impairment by Coutinho, Debora C., Coletta, Rocio R. D., Costa, Elaine M. F., Pachi, Paulo R., Boguszewski, Margaret C. S., Damiani, Durval, Mendonca, Berenice B., Arnhold, Ivo J. P., Jorge, Alexander A. L.

“…Background: Few children born small for gestational age (SGA) with IGF1 mutations have been reported. One of these patients presented a mutation at 3′…”
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Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone–Receptor Gene by Latronico, Ana C, Anasti, James, Arnhold, Ivo J.P, Rapaport, Robert, Mendonca, Berenice B, Bloise, Walter, Castro, Margaret, Tsigos, Constantine, Chrousos, George P

“…In normal males, luteinizing hormone (LH) regulates the function of Leydig cells and, hence, male sexual differentiation, pubertal androgenization, male sexual…”
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Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients by Ferreira, Lize V., Souza, Silvia C. A. L., Montenegro, Luciana R., Malaquias, Alexsandra C., Arnhold, Ivo J. P., Mendonca, Berenice B., Jorge, Alexander A. L.

“…Summary Background  Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children…”
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