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

United States: Endocrine Society

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Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

Franca, Monica M ; Han, Xingfa ; Funari, Mariana F A ; Lerario, Antonio M ; Nishi, Mirian Y ; Fontenele, Eveline G P ; Domenice, Sorahia ; Jorge, Alexander A L ; Garcia-Galiano, David ; Elias, Carol F ; Mendonca, Berenice B

Washington, DC: Endocrine Society

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Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature

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

Washington, DC: Endocrine Society

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Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability

Dantas, Naiara C B ; Funari, Mariana F A ; Lerário, Antonio M ; Andrade, Nathalia L M ; Rezende, Raíssa C ; Cellin, Laurana P ; Alves, Crésio ; Crisostomo, Lindiane G ; Arnhold, Ivo J P ; Mendonca, Berenice ; Scalco, Renata C ; 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

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

Bethesda, MD: Endocrine Society

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Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development

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

United States: Oxford University Press

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Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

Gordon, Adam S ; Tabor, Holly K ; Johnson, Andrew D ; Snively, Beverly M ; Assimes, Themistocles L ; Auer, Paul L ; Ioannidis, John P A ; Peters, Ulrike ; Robinson, Jennifer G ; Sucheston, Lara E ; Wang, Danxin ; Sotoodehnia, Nona ; Rotter, Jerome I ; Psaty, Bruce M ; Jackson, Rebecca D ; Herrington, David M ; O'Donnell, Christopher J ; Reiner, Alexander P ; Rich, Stephen S ; Rieder, Mark J ; Bamshad, Michael J ; Nickerson, Deborah A

England: Oxford University Press

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Multigene Sequencing AnalysisofChildrenBornSmall for Gestational Age With Isolated Short Stature

Freire, Bruna L ; Homma, Thais K ; Funari, Mariana F. A ; Lerario, Antonio M ; Vasques, Gabriela A ; Malaquias, Alexsandra C ; Arnhold, Ivo J. P ; Jorge, Alexander A. L

Oxford University Press

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GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs

Michienzi, S. ; Cherman, N. ; Holmbeck, K. ; Funari, A. ; Collins, M. T. ; Bianco, P. ; Robey, P. G. ; Riminucci, M.

Oxford: Oxford Publishing Limited(England)

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