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

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GH Treatment in Children of Normal Height von Mendonca, Berenice B, Arnhold, Ivo J P

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Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature von Freire, Bruna L, Homma, Thais K, Funari, Mariana F A, Lerario, Antônio M, Vasques, Gabriela A, Malaquias, Alexsandra C, Arnhold, Ivo J P, Jorge, Alexander A L

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Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3 von Macedo, Delanie B, Abreu, Ana Paula, Reis, Ana Claudia S, Montenegro, Luciana R, Dauber, Andrew, Beneduzzi, Daiane, Cukier, Priscilla, Silveira, Leticia F. G, Teles, Milena G, Carroll, Rona S, Junior, Gil Guerra, Filho, Guilherme Guaragna, Gucev, Zoran, Arnhold, Ivo J. P, de Castro, Margaret, Moreira, Ayrton C, Martinelli, Carlos Eduardo, Hirschhorn, Joel N, Mendonca, Berenice B, Brito, Vinicius N, Antonini, Sonir R, Kaiser, Ursula B, Latronico, Ana Claudia

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The phenotypic spectrum associated with OTX2 mutations in humans von 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

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Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants von Nakaguma, Marilena, Jorge, Alexander A.L., Arnhold, Ivo J.P.

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Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development von Gomes, Nathalia Lisboa, Batista, Rafael Loch, Nishi, Mirian Y, Lerário, Antônio Marcondes, Silva, Thatiana E, de Moraes Narcizo, Amanda, Benedetti, Anna Flávia Figueredo, de Assis Funari, Mariana Ferreira, Faria Junior, José Antônio, Moraes, Daniela Rodrigues, Quintão, Lia Mesquita Lousada, Montenegro, Luciana Ribeiro, Ferrari, Maria Teresa Martins, Jorge, Alexander A, Arnhold, Ivo J P, Costa, Elaine Maria Frade, Domenice, Sorahia, Mendonca, Berenice Bilharinho

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Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly von 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

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46,XY disorders of sex development (DSD) von Mendonca, Berenice Bilharinho, Domenice, Sorahia, Arnhold, Ivo J. P., Costa, Elaine M. F.

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Steroid 5α-reductase 2 deficiency von Mendonca, Berenice B., Batista, Rafael Loch, Domenice, Sorahia, Costa, Elaine M.F., Arnhold, Ivo J.P., Russell, David W., Wilson, Jean D.

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Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development von Batista, Rafael Loch, Inácio, Marlene, Arnhold, Ivo Jorge Prado, Gomes, Nathália Lisboa, Faria, José Antônio Diniz, de Moraes, Daniela Rodrigues, Costa, Elaine Maria Frade, Domenice, Sorahia, Mendonça, Berenice Bilharinho

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Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders von Vasques, Gabriela A., Arnhold, Ivo J.P., Jorge, Alexander A.L.

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HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype von 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.

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Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways von Canton, Ana P M, Costa, Sílvia S, Rodrigues, Tatiane C, Bertola, Debora R, Malaquias, Alexsandra C, Correa, Fernanda A, Arnhold, Ivo J P, Rosenberg, Carla, Jorge, Alexander A L

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Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway von Malaquias, Alexsandra C., Brasil, Amanda S., Pereira, Alexandre C., Arnhold, Ivo J.P., Mendonca, Berenice B., Bertola, Debora R., Jorge, Alexander A.L.

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High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency von Gergics, Peter, Smith, Cathy, Bando, Hironori, Jorge, Alexander A.L., Rockstroh-Lippold, Denise, Vishnopolska, Sebastian A., Castinetti, Frederic, Maksutova, Mariam, Carvalho, Luciani Renata Silveira, Hoppmann, Julia, Martínez Mayer, Julián, Albarel, Frédérique, Braslavsky, Debora, Keselman, Ana, Bergadá, Ignacio, Martí, Marcelo A., Saveanu, Alexandru, Barlier, Anne, Abou Jamra, Rami, Guo, Michael H., Dauber, Andrew, Nakaguma, Marilena, Mendonca, Berenice B., Jayakody, Sajini N., Ozel, A. Bilge, Fang, Qing, Ma, Qianyi, Li, Jun Z., Brue, Thierry, Pérez Millán, María Ines, Arnhold, Ivo J.P., Pfaeffle, Roland, Kitzman, Jacob O., Camper, Sally A.

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Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing von Homma, Thais Kataoka, Freire, Bruna Lucheze, Honjo Kawahira, Rachel Sayuri, Dauber, Andrew, Funari, Mariana Ferreira de Assis, Lerario, Antônio Marcondes, Nishi, Mirian Yumie, Albuquerque, Edoarda Vasco de, Vasques, Gabriela de Andrade, Collett-Solberg, Paulo Ferrez, Miura Sugayama, Sofia Mizuho, Bertola, Debora Romeo, Kim, Chong Ae, Arnhold, Ivo Jorge Prado, Malaquias, Alexsandra Christianne, Jorge, Alexander Augusto de Lima

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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 von Jorge, Alexander A. L., Marchisotti, Frederico G., Montenegro, Luciana R., Carvalho, Luciani R., Mendonca, Berenice B., Arnhold, Ivo J. P.

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Role of GLI2 in hypopituitarism phenotype von Arnhold, Ivo J P, França, Marcela M, Carvalho, Luciani R, Mendonca, Berenice B, Jorge, Alexander A L

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Androgen insensitivity syndrome: a review von Batista, Rafael Loch, Costa, Elaine M. Frade, Rodrigues, Andresa de Santi, Gomes, Nathalia Lisboa, Faria, José Antonio, Nishi, Mirian Y., Arnhold, Ivo Jorge Prado, Domenice, Sorahia, Mendonca, Berenice Bilharinho de

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