Search Results - "Forclaz, Verónica"

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum by da Silva, Thatiana Evilen, Gomes, Nathalia Lisboa, Lerário, Antonio Marcondes, Keegan, Catherine Elizabeth, Nishi, Mirian Yumi, Carvalho, Filomena Marino, Vilain, Eric, Barseghyan, Hayk, Martinez-Aguayo, Alejandro, Forclaz, María Verónica, Papazian, Regina, Pedroso de Paula, Leila Cristina, Costa, Eduardo Corrêa, Carvalho, Luciani Renata, Jorge, Alexander Augusto Lima, Elias, Felipe Martins, Mitchell, Rod, Costa, Elaine Maria Frade, Mendonca, Berenice Bilharinho, Domenice, Sorahia

“…46,XY Gonadal dysgenesis (GD) is a heterogeneous group of disorders with a wide phenotypic spectrum, including embryonic testicular regression syndrome (ETRS)…”
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SUN-345 Use of Anti-FGF23 Monoclonal Antibody in the Treatment of Children and Adolescents with X-Linked Hypophosphatemic Rickets by Cassinelli, Hamilton Raul, Brenzoni, Luciana, Alconcher, Laura, Forclaz, Veronica, D′Amato, Silvia, Rozenfeld, Paula, Bergada, Ignacio

“…Background: X-linked hypophosphataemia is the most common heritable form of rickets in children, disorder caused by mutations in PHEX, leading to elevated…”
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The C105fs114X is the prevalent thyrotropin beta-subunit gene mutation in Argentinean patients with congenital central hypothyroidism by Domené, Horacio M, Gruñeiro-Papendieck, Laura, Chiesa, Ana, Iorcansky, Sonia, Herzovich, Viviana C, Papazian, Regina, Forclaz, Verónica, Prieto, Laura, Sansó, Gabriela, Scaglia, Paula, Bre, Mónica, Chamoux, Alfredo, Heinrich, Juan J

“…Congenital isolated thyrotropin (TSH) deficiency is an unusual condition characterized by low levels of thyroid hormones and TSH, usually presenting early…”
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RF17 | PMON23 Argentinian multicentric genetic study of pituitary hormonal deficiencies using a custom panel based on single molecule molecular inversion probes by Alonso, Guillermo, Cau, Carolina Arias, Belgorosky, Alicia, Benzrihen, G, Bergada, Ignacio, Braslavsky, Debora, Camper, Sally, Ciaccio, Marta, D'Amato, S, Palma, Isabel D, Figueroa, Veronica, Forclaz, Veronica, Keselman, Ana, Kitzman, Jacob, Gil, Susana Mallea, Central, Hospital Militar, Argentina, Buenos Aires, Marino, Roxana, Marti, Marcelo, Miras, Mirta, Garrido, Natalia Perez, Ramirez, Pablo, Vishnopolska, Sebastian, Camilletti, Maria Andrea, Mayer, Julian Martinez, Murriello, Augusto Chaves, Felker, Gonzalo Chirino, Perez-Millan, Maria

“…Hypopituitarism with deficiency of one or more pituitary hormones (combined pituitary hormone deficiency or CPHD) can vary in severity and age at presentation…”
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THU159 Identifying Causative Genes For Pituitary Hormone Deficiencies by Mayer, Julian Martinez, Hackbartt, Martina, Garcia, Lucia Iglesias, Vishnopolska, Sebastian, Zaiat, Jonathan, Perticarari, Catalina, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana, Ramirez, Pablo, Garrido, Natalia Perez, Ciaccio, Marta, Di Palma, María Isabel, Belgorosky, Alicia, Forclaz, Veronica, Benzrihen, Maria Gabriela, D´Amato, Silvia, Rojas, Gabriela Patricia, Miras, Mirta, Alejandra, Paez Nuñez, Castro, Laura, Alonso, Guillermo Francisco, Gil, Susana Mallea, Ballarino, Carolina, Latorre Villacorta, Laura Viviana, Figueroa, Verónica, Morin, Analia, Guntsche, Zelmira, Lee, Hane, Lee, Eugene, Song, Yongjun, Hyun, Seong-In, Marti, Marcelo, Perez-Millan, Maria Ines

“…Disclosure: J. Martinez Mayer: None. M. Hackbartt: None. L. Iglesias Garcia: None. S. Vishnopolska: None. J. Zaiat: None. C. Perticarari: None. D.G…”
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Identification of FOXA2 and PNPLA6 Among Other Genes, as a Potential Risk for Pituitary Hormone Deficiency by Camilletti, Maria Andrea, Vishnopolska, Sebastian, Mercogliano, María Florencia, Mortensen, Amanda Helen, Murriello, Augusto Chaves, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana Marcela, Ramirez, Pablo, Garrido, Natalia Perez, Ciaccio, Marta, Di Palma, María Isabel, Belgorosky, Alicia, Forclaz, Veronica, Benzrihen, Maria Gabriela, D’Amato, Silvia, Marti, Marcelo, Kitzman, Jacob, Camper, Sally Ann, Perez-Millan, Maria Ines

“…Pituitary hormone deficiency or hypopituitarism is characterized by a malformed or underdeveloped pituitary gland resulting in an impaired pituitary hormone…”
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THU238 Experience In Transition From Pediatric To Adult Care In Chronic Endocrinological Pathology by Tormo, Silvina, Kastelic, María Sofía, Forclaz, Maria Veronica, Varela, Silvana Anabella, Giacoia, Evangelina

“…Disclosure: S. Tormo: None. M.S. Kastelic: None. M.V. Forclaz: None. S.A. Varela: None. E. Giacoia: None. Introduction: Advances in medicine in recent decades…”
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Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes by Martinez-Mayer, Julian, Vishnopolska, Sebastian, Perticarari, Catalina, Iglesias Garcia, Lucia, Hackbartt, Martina, Martinez, Marcela, Zaiat, Jonathan, Jacome-Alvarado, Andrea, Braslavsky, Debora, Keselman, Ana, Bergadá, Ignacio, Marino, Roxana, Ramírez, Pablo, Pérez Garrido, Natalia, Ciaccio, Marta, Di Palma, Maria Isabel, Belgorosky, Alicia, Forclaz, Maria Veronica, Benzrihen, Gabriela, D'Amato, Silvia, Cirigliano, Maria Lujan, Miras, Mirta, Paez Nuñez, Alejandra, Castro, Laura, Mallea-Gil, Maria Susana, Ballarino, Carolina, Latorre-Villacorta, Laura, Casiello, Ana Clara, Hernandez, Claudia, Figueroa, Veronica, Alonso, Guillermo, Morin, Analia, Guntsche, Zelmira, Lee, Hane, Lee, Eugene, Song, Yongjun, Marti, Marcelo Adrian, Perez-Millan, Maria Ines

“…Abstract Context The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary dysfunction is associated with a spectrum of phenotypes,…”
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7389 Novel Candidate Genes for Congenital Hypopituitarism Revealed by Whole Exome Sequencing by Mayer, Julián Jorge Martínez, Vishnopolska, Sebastian, Catalina, Perticarari, García, Lucía Iglesias, Hackbartt, Martina, Alvarado, Andrea Jacome, Martinez, Marcela, Zaiat, Jonathan, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana Marcela, Garrido, Natacia Perez, Ciaccio, Marta, Di Palma, María Isabel, Belgorosky, Alicia, Forclaz, Maria Veronica, Benzrihen, Maria Gabriela, D’Amato, Silvia, Rojas, Gabriela Patricia, Miras, Mirta, Alonso, Guillermo Francisco, Nuñez, Alejandra Paez, Castro, Laura Cecilia, Gil, Susana Mallea, Ballarino, Carolina, Villacorta, Laura Viviana Latorre, Figueroa, Verónica, Morin, Analia, Guntsche, Zelmira, Lee, Hane, Lee, Eugene, Song, Yongjun, Marti, Marcelo, Perez-Millan, Maria Ines

“…Disclosure: J.J. Martínez Mayer: None. S. Vishnopolska: None. P. Catalina: None. L. Iglesias García: None. M. Hackbartt: None. A. Jacome Alvarado: None. M…”
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