LANDI, ESTEFANÍA; KARABATAS, LILIANA; RODRÍGUEZ GOMEZ, TOMÁS; SALATINO, LUCÍA; SCAGLIA, PAULA; RAMÍREZ, LAURA; KESELMAN, ANA; BRASLAVSKY, DÉBORA; SANGUINETI, NORA; PENNISI, PATRICIA; REY, RODOLFO A; BERGADÁ, IGNACIO; JASPER, HÉCTOR G; DOMENÉ, HORACIO M; PLAZAS, PAOLA V; DOMENÉ, SABINA

An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development

HUMAN MOLECULAR GENETICS; Año: 2023

DOMENÉ, SABINA; SCAGLIA, PAULA A.; GUTIÉRREZ, MARIANA L.; DOMENÉ, HORACIO M.

Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development

Cells; Año: 2021 vol. 10

FREIXAS, AGUSTÍN E. CARPANETO; MOGLIE, MARCELO J.; CASTAGNOLA, TAIS; SALATINO, LUCIA; DOMENE, SABINA; MARCOVICH, IRINA; GALLINO, SOFIA; WEDEMEYER, CAROLINA; GOUTMAN, JUAN D.; PLAZAS, PAOLA V.; ELGOYHEN, ANA BELÉN

Unraveling the molecular players at the cholinergic efferent synapse of the zebrafish lateral line

JOURNAL OF NEUROSCIENCE; Año: 2021 vol. 41 p. 47 - 60

RAMÍREZ, LAURA; SANGUINETI, NORA; SCAGLIA, PAULA; KESELMAN, ANA; BALLERINI, MARÍA GABRIELA; KARABATAS, LILIANA; LANDI, ESTEFANÍA; CASTRO, JULIA; DOMENÉ, SABINA; PENNISI, PATRICIA; JASPER, HÉCTOR; REY, RODOLFO A.; VÁZQUEZ, MARTÍN; DOMENÉ, HORACIO; BERGADÁ, IGNACIO; GUTIÉRREZ, MARIANA

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI)

GROWTH HORMONE & IGF RESEARCH : OFFICIAL JOURNAL OF THE GROWTH HORMONE RESEARCH SOCIETY AND THE INTERNATIONAL IGF RESEARCH SOCIETY.; Lugar: ESCOCIA; Año: 2020 vol. 50 p. 61 - 70

LANDI, ESTEFANÍA; KARABATAS, LILIANA; SCAGLIA, PAULA; PISCIOTTANO, FRANCISCO; GUTIÉRREZ, MARIANA; RAMÍREZ, LAURA; BERGADÁ, IGNACIO; REY, RODOLFO A.; JASPER, HÉCTOR GUILLERMO; DOMENÉ, HORACIO MARIO; PLAZAS, PAOLA VIVIANA; DOMENÉ, SABINA

Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development

GENERAL AND COMPARATIVE ENDOCRINOLOGY; Año: 2020 vol. 299

DOMENÉ, SABINA; DOMENÉ, HORACIO M.

The role of acid-labile subunit (ALS) in the modulation of GH-IGF-I action

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2020

KESELMAN, ANA CLAUDIA; MARTIN, AYELEN; SCAGLIA, PAULA ALEJANDRA; SANGUINETI, NORA MARÍA; ARMANDO, ROMINA; GUTIÉRREZ, MARIANA; BRASLAVSKY, DÉBORA; BALLERINI, MARÍA GABRIELA; ROPELATO, MARÍA GABRIELA; RAMIREZ, LAURA; LANDI, ESTEFANÍA; DOMENÉ, SABINA; CASTRO, JULIA F; CASSINELLI, HAMILTON; CASALI, BÁRBARA; DEL REY, GRACIELA; BARROS, ÁNGEL CAMPOS; NEVADO BLANCO, JULIÁN; DOMENÉ, HORACIO; JASPER, HÉCTOR; ARBERAS, CLAUDIA; REY, RODOLFO A; LAPUNZINA-BADÍA, PABLO; BERGADÁ, IGNACIO; PENNISI, PATRICIA A

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency

EUROPEAN JOURNAL OF ENDOCRINOLOGY; Año: 2019 vol. 181 p. 43 - 53

GUTIÉRREZ, MARIANA; SCAGLIA, PAULA; KESELMAN, ANA; MARTUCCI, LUCÍA; KARABATAS, LILIANA; DOMENÉ, SABINA; MARTIN, AYELEN; PENNISI, PATRICIA; BLANCO, MIGUEL; SANGUINETI, NORA; BEZRODNIK, LILIANA; DI GIOVANNI, DANIELA; CALDIROLA, MARÍA SOLEDAD; AZCOITI, MARÍA ESNAOLA; GAILLARD, MARÍA ISABEL; DENSON, LEE A.; ZHANG, KEJIAN; HUSAMI, AMMAR; YAYAH JONES, NANA-HAWA; HWA, VIVIAN; REVALE, SANTIAGO; VÁZQUEZ, MARTÍN; JASPER, HÉCTOR; KUMAR, ASHISH; DOMENÉ, HORACIO

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2018 p. 1 - 12

DOMENE, SABINA; DOMENE, HORACIO

Genetic Mutations in the GH/IGF Axis.

Pediatric Endocrinology Reviews; Año: 2018

SCAGLIA, PAULA A.; KESELMAN, ANA C.; BRASLAVSKY, DÉBORA; MARTUCCI, LUCÍA C.; KARABATAS, LILIANA M.; DOMENÉ, SABINA; GUTIÉRREZ, MARIANA L.; BALLERINI, MARÍA G.; ROPELATO, MARÍA G.; SPINOLA-CASTRO, ANGELA; SIVIERO-MIACHON, ADRIANA A.; TARTUCI, JULIANA SAITO; RODRÍGUEZ AZRAK, SOL; REY, RODOLFO A.; JASPER, HÉCTOR G.; BERGADÁ, IGNACIO; DOMENÉ, HORACIO M.

Characterization of Four Latin-American Families Confirms Previous Findings and Reveals Novel Features of Acid-labile Subunit (ALS) Deficiency

CLINICAL ENDOCRINOLOGY; Año: 2017

MARTUCCI, LUCIA; GUTIERREZ, MARIANA; KARABATAS, LILIANA; SCAGLIA, PAULA; REY, RODOLFO; DOMENE, HORACIO; JASPER, HECTOR; DOMENE, SABINA

Assessment of Pathogenicity of natural IGFALS gene variants by in silico bioinformatic tools and in vitro functional studies

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2016 vol. 429 p. 19 - 28

DOMENÉ SABINA; VIVIANA BUMASCHNY; FLAVIO JUNQUEIRA; FRANCHINI, LUCIA; SOFIA NASIF; MALCOLM LOW; MARCELO RUBINSTEIN

Enhancer turnover and conserved regulatory function in vertebrate evolution

PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES; Lugar: Londres; Año: 2013 vol. 368 p. 1 - 13

BAE, GU; DOMENE, SABINA; ROESSLER, ERICH; SCHACHTER, KAREN; KANG, JONG-SUN; MUENKE, MAXIMILIAN; KRAUSS, ROBERT S

Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.

AMERICAN JOURNAL OF HUMAN GENETICS; Lugar: Massachussets; Año: 2011 vol. 89 p. 231 - 240

SABINA DOMENE; HORIA STANESCU; DEEANN WALLIS; BRADFORD TINLOY; DANIEL E. PINEDA; ROBERT KLETA; MAURICIO ARCOS-BURGOS; ERICH ROESSLER; MAXIMILIAN MUENKE

Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS; Lugar: New York; Año: 2011 vol. 156 p. 11 - 18

MAURICIO ARCOS-BURGOS; MAHIM JAIN; MARIA TERESA ACOSTA; SHARON SHIVELY; HORIA STANESCU; DEEANN WALLIS; SABINA DOMENÉ; JORGE IVAN VÉLEZ; JAYAPRAKASH D. KARKERA; JOAN BALOG; KATE BERG; ROBERT KLETA; WILLIAM A. GAHL; ERICH ROESSLER; ROBERT LONG; JIE LIE; DAVID PINEDA; ANA C. LONDOÑO; JUAN DAVID PALACIO; ANDRES ARBELAEZ; FRANCISCO LOPERA; JOSEPHINE ELIA; HAKON HAKONARSON; STEFAN JOHANSSON; PER M. KNAPPSKOG; JAN HAAVIK; MARTHA RIBASES; BRU CORMAND; MONICA BAYES; MIQUEL CASAS; TONI RAMOS; AMAIA HERVAS; BRION S. MAHER; CHRISTIANE SEITZ; CHRISTINE M. FREITAG; HAUKUR PALMASON; JOBST MEYER; MARCEL ROMANOS; SUSANNE WALITZA; UWE HEMMINGER; ANDREAS WARNKE; JASMIN ROMANOS; TOBIAS RENNER; CHRISTIAN JACOB; KLAUS-PETER LESCH; V. FARAONE; JAMES SWANSON; ALEXANDER VORTMEYER; JOAN E. BAILEY-WILSON; F. XAVIER CASTELLANOS; MAXIMILIAN MUENKE

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.

MOLECULAR PSYCHIATRY; Lugar: Londres; Año: 2010 vol. 15 p. 1053 - 1066

VIVIANA VARELA; LEONARDO RIZZO; SABINA DOMENE; OSCAR D BRUNO; MARIANA TELLECHEA; CARINA M RIVOLTA; HECTOR M TARGOVNIK

Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case-control study.

ENDOCRINE; Lugar: New York City; Año: 2010 vol. 38 p. 320 - 327

FELICITAS LACBAWAN; BENJAMIN D SOLOMON; ERICH ROESSLER; KENIA EL-JAICK; SABINA DOMENE; JORGE I VELEZ; NAN ZHOU; DONALD HADLEY; JOAN Z BALOG; ROBERT LONG; ALAN FRYER; WENDY SMITH; SAID OMAR; SCOTT D MCLEAN; KATE CLARKSON; ANGIE LICHTY; NANCY J CLEGG; MAURICIO R DELGADO; ERICH LEVEY; ELAINE STASHINKO; LORRAINE POTOCKI; MARGOT I VANALLEN; JILL CLAYTON-SMITH; DIAN DONNAI; DIANNA W BIANCHI; PETUR B JULIUSSON; PAL RASMUS NJOSTAD; ABELTJE POSTRA; RAOUL C M HENNEKAM; MARIE-JOSE H VAN DEN BOOGAARD; ARIE VAN HAERINGEN; AIMEE PAULUSSEN; JOS HERBERGS; CONSTANCE T R M SCHRANDER-STUMPEL; ANDREAS R JANECKE; DAVID CHITAYAT; JIN HAHN; DONNA M MCDONALD-MCGINN; ELAINE H ZACKAI; WILLIAM B DOBYNS; MAXIMILIAN MUENKE

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

JOURNAL OF MEDICAL GENETICS; Lugar: London; Año: 2009 vol. 46 p. 389 - 398

BENJAMIN D SOLOMON; FELICITAS LACBAWAN; MAHIM JAIN; SABINA DOMENE; ERICH ROESSLER; CYNTHIA MOORE; WILLIAM B DOBYNS; MAXIMILIAN MUENKE

A novel SIX3 mutation segregates with holoprosencephaly in a large family.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; Lugar: salt Lake City; Año: 2009 vol. 149A p. 919 - 925

DOMENE SABINA; ERICH ROESSLER; KENIA B EL-JAICK; MIRIT SNIR; JAMIE L BROWN; JORGE I VELEZ; SHERI BALE; FELICITAS LACBAWAN; MAXIMILIAN MUENKE; BENJAMIN FELDMAN

Mutations in the human SIX3 gene in holoprosencephaly are loss-of-function.

HUMAN MOLECULAR GENETICS; Lugar: Oxford; Año: 2008 vol. 17 p. 3919 - 3928

GUTNISKY J. VIVIANA; MOYA M. CHRISTIAN; RIVOLTA M. CARINA; DOMENÉ SABINA; VARELA VIVIANA; TONIOLO V. JUSSARA; MEDEIROS-NETO GERALDO; TARGOVNIK M. HECTOR

Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis

JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Lugar: New York, New York, USA; Año: 2004 vol. 89 p. 646 - 657

CARINA M. RIVOLTA; SEBASTIAN A. ESPERANTE; LAURA GRUNEIRO-PAPENDIECK; ANA CHIESA; CHRISTIAN M. MOYA; SABINA DOMENE; VIVIANA VARELA; HECTOR M. TARGOVNIK

Five Novel Inactivating Mutations in the Human Thyroid Peroxidase Gene Responsible for Congenital Goiter and Iodide Organification Defect

HUMAN MUTATION; Lugar: New Jersey; Año: 2003 vol. 22 p. 259 - 263