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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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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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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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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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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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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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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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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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... von 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.

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Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism von Alatzoglou, Kyriaki S, Kelberman, Daniel, Cowell, Christopher T, Palmer, Rodger, Arnhold, Ivo J. P, Melo, Maria E, Schnabel, Dirk, Grueters, Annette, Dattani, Mehul T

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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) von 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.

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

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SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability von Jorge, Alexander A. L., Souza, Silvia C., Nishi, Miriam Y., Billerbeck, Ana E., Libório, Débora C. C., Kim, Chong A., Arnhold, Ivo J. P., Mendonca, Berenice B.

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

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Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery von Correa, Fernanda A., Nakaguma, Marilena, Madeira, João L. O., Nishi, Mirian Y., Abrão, Milena G., Jorge, Alexander A. L., Carvalho, Luciani R., Arnhold, Ivo J. P., Mendonça, Berenice B.

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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... von Costalonga, Everlayny Fiorot, Antonini, Sonir R., Guerra-Junior, Gil, Mendonca, Berenice Bilharinho, Arnhold, Ivo J. P., Jorge, Alexander A. L.

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Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing von Correa, Fernanda A., França, Marcela M., Fang, Qing, Ma, Qianyi, Bachega, Tania A., Rodrigues, Andresa, Ozel, Bilge A., Li, Jun Z., Mendonca, Berenice B., Jorge, Alexander A. L., Carvalho, Luciani R., Camper, Sally A., Arnhold, Ivo J. P

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Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty von Pugliese-Pires, Patricia N, Fortin, Jean-Philippe, Arthur, Thais, Latronico, Ana Claudia, Mendonca, Berenice B, Villares, Sandra Mara F, Arnhold, Ivo J P, Kopin, Alan S, Jorge, Alexander A L

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Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency von Scalco, Renata C, Melo, Suzana S. J, Pugliese-Pires, Patricia N, Funari, Mariana F. A, Nishi, Mirian Y, Arnhold, Ivo J. P, Mendonca, Berenice B, Jorge, Alexander A. L

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The Interactive Effect of GHR-Exon 3 and −202 A/C IGFBP3 Polymorphisms on rhGH Responsiveness and Treatment Outcomes in Patients with Turner Syndrome von Braz, Adriana F, Costalonga, Everlayny F, Montenegro, Luciana R, Trarbach, Ericka B, Antonini, Sonir R. R, Malaquias, Alexsandra C, Ramos, Ester S, Mendonca, Berenice B, Arnhold, Ivo J. P, Jorge, Alexander A. L

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