LANDI, ESTEFANÍA; KARABATAS, LILIANA; GÓMEZ, TOMÁS RODRÍGUEZ; 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

CORREA BRITO, LOURDES; GRINSPON, ROMINA P.; LOPEZ DACAL, JIMENA; SCAGLIA, PAULA; ESNAOLA AZCOITI, MARÍA; IZQUIERDO, AGUSTÍN; ROPELATO, MARÍA GABRIELA; REY, RODOLFO A.

Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development

Journal of Personalized Medicine; Lugar: Basilea; Año: 2023 vol. 13

CASTRO, SEBASTIÁN; BRUNELLO, FRANCO G.; SANSÓ, GABRIELA; SCAGLIA, PAULA; ESNAOLA AZCOITI, MARÍA; IZQUIERDO, AGUSTÍN; VILLEGAS, FLORENCIA; BERGADÁ, IGNACIO; ROPELATO, MARÍA GABRIELA; MARTÍ, MARCELO A.; REY, RODOLFO A.; GRINSPON, ROMINA P.

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

Frontiers in Pediatrics; Lugar: Lausanne; Año: 2022 vol. 10

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; Lugar: Basilea; Año: 2021 vol. 10

SANGUINETI, NORA; BRASLAVSKY, DEBORA; SCAGLIA, PAULA A.; KESELMAN, ANA; BALLERINI, MARIA G.; ROPELATO, MARIA G.; SUCO, SOFIA; VISHNOPOLSKA, SEBASTIAN; BERENSTEIN, ARIEL J.; JASPER, HÉCTOR; DOMENÉ, HORACIO M.; REY, RODOLFO A.; PÉREZ MILLÁN, MARIA I.; CAMPER, SALLY A.; BERGADÁ, IGNACIO

p.R209H GH1 variant challenges short stature assessment

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. 23 - 26

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

BRASLAVSKY, DÉBORA; SCAGLIA, PAULA; SANGUINETI, NORA; AZA-CARMONA, MIRIAM; BLANCO, JULIÁN NEVADO; BADIA, PABLO D. LAPUNZINA; FERNÁNDEZ, MARIÁ DEL C.; RUIZ, OLIVIA; CARMONA, ALEJANDRA; SZLAGO, MARINA; ARBERAS, CLAUDIA; CASSINELLI, HAMILTON; HEATH, KAREN; REY, RODOLFO; BERGADÁ, IGNACIO

Osteoporosis-pseudoglioma Syndrome: A pediatric case of primary osteoporosis Síndrome de osteoporosis-pseudoglioma: A propósito de un caso pediátrico de osteoporosis primaria

ARCHIVOS ARGENTINOS DE PEDIATRIA; Lugar: Buenos Aires; Año: 2020 vol. 118 p. 300 - 304

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

BORGES, MARIA DE FÁTIMA; DOMENÉ, HORACIO MARIO; SCAGLIA, PAULA ALEJANDRA; LARA, BEATRIZ HALLAL JORGE; PALHARES, HELOÍSA MARCELINA DA CUNHA; SANTOS, ANDRÉIA VASCONCELOS AGUIAR; GONÇALVES, AMANDA LACERDA FERREIRA; OLIVEIRA, MARÍLIA MATOS; MARQUI, ALESSANDRA BERNADETE TROVÓ DE

A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING

REVISTA PAULISTA DE PEDIATRIA; Lugar: San Pablo; Año: 2019

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

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

BALLERINI, MARÍA GABRIELA; BRASLAVSKY, DÉBORA; SCAGLIA, PAULA ALEJANDRA; KESELMAN, ANA; RODRÍGUEZ, MARÍA EUGENIA; MARTÍNEZ, ALICIA; FREIRE, ANALÍA VERÓNICA; DOMENÉ, HORACIO MARIO; JASPER, HÉCTOR GUILLERMO; BERGADÁ, IGNACIO; ROPELATO, MARÍA GABRIELA

Circulating IGF-I, IGFBP-3 and the IGF-I/IGFBP-3 Molar Ratio Concentration and Height Outcome in Prepubertal Short Children on rhGH Treatment over Two Years of Therapy

Hormone Research in Paediatrics; Año: 2017 vol. 88 p. 354 - 363

LUCIA CAMILA MARTUCCI; MARIANA LILIAN GUTIÉRREZ; LILIANA MARGARITA KARABATAS; PAULA ALEJANDRA SCAGLIA; RODOLFO ALBERTO REY; HORACIO MARIO DOMENÉ; HÉCTOR GUILLERMO JASPER; SABINA DOMENÉ

Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Lugar: Amsterdam; Año: 2016

HORACIO M. DOMENÉ; PAULA A. SCAGLIA; ALICIA S. MARTÍNEZ; ANA C. KESELMAN; LILIANA M. KARABATAS; VIVIANA R. PIPMAN; SONIA V. BENGOLEA; MARÍA C. GUIDA; MARÍA G. ROPELATO; MARÍA G. BALLERINI; EVA M. LESCANO; MIGUEL A. BLANCO; JUAN J. HEINRICH; RODOLFO A. REY; HÉCTOR G. JASPER

Heterozygous IGFALS gene variants in idiopathic short stature and normal children: Impact on height and the IGF system

Hormone Research in Paediatrics; Lugar: Basilea; Año: 2013 vol. 80 p. 413 - 423

MARÍA GABRIELA BALLERINI ; HORACIO MARIO DOMENÉ; PAULA SCAGLIA; ALICIA MARTÍNEZ; ANA KESELMAN; HÉCTOR GUILLERMO JASPER; MARÍA GABRIELA ROPELATO

Association of serum components of the GH-IGFs-IGFBPs system with GHR-exon 3 polymorphism in normal and idiopathic short stature children.

GROWTH HORMONE & IGF RESEARCH : OFFICIAL JOURNAL OF THE GROWTH HORMONE RESEARCH SOCIETY AND THE INTERNATIONAL IGF RESEARCH SOCIETY.; Año: 2013 vol. 23 p. 229 - 236

PAULA A. SCAGLIA; ALICIA S. MARTÍNEZ; EVA FEIGERLOVÁ; LILIANA BEZRODNIK; MARÍA ISABEL GAILLARD; DANIELA DI GIOVANNI; MARÍA GABRIELA BALLERINI; HÉCTOR G. JASPER; JUAN J. HEINRICH; PENG FANG; HORACIO M. DOMENÉ; RON G. ROSENFELD; VIVIAN HWA

A Novel Missense Mutation in the SH2 Domain of the STAT5B Gene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack of Pulmonary Disease

JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Año: 2012 vol. 97 p. 830 - 839

ANA KESELMAN; PAULA A. SCAGLIA; MARÍA SOLEDAD RODRÍGUEZ PRIETO ; MARÍA GABRIELA BALLERINI; MARIA EUGENIA RODRIGUEZ; MARÍA GABRIELA ROPELATO; IGNACIO BERGADA; HÉCTOR G. JASPER; HORACIO M. DOMENÉ

Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus.

ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA; Lugar: São Paulo,; Año: 2012 vol. 56 p. 558 - 563

PAULA A. SCAGLIA; ANA CHIESA; GABRIELA BASTIDA; PACIN MIRTA; HORACIO M. DOMENÉ; LAURA GRUÑEIRO-PAPENDIECK

Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene.

ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA; Lugar: São Paulo; Año: 2012 vol. 56 p. 513 - 518

MARÍA GABRIELA BALLERINI; ANA CHIESA; PAULA SCAGLIA; LAURA GRUÑEIRO-PAPENDIECK; JUAN JORGE HEINRICH; MARÍA GABRIELA ROPELATO

17a-Hydroxyprogesterone and Cortisol Serum Levels in Neonates and Young Children: Influence of Age, Gestational Age, Gender and Methodological Procedures

JOURNAL OF PEDIATRIC ENDOCRINOLOGY AND METABOLISM; Lugar: Londres; Año: 2010 vol. 23 p. 121 - 132

MARÍA G. BALLERINI; PAULA A. SCAGLIA; HORACIO M. DOMENÉ; ALICIA S. MARTÍNEZ; ANA C. KESELMAN; VIVIANA R. PIPMAN; SONIA V. BENGOLEA; HAMILTON CASSINELLI; LILIANA M. KARABATAS; MARÍA L. CALCAGNO; JUAN J. HEINRICH; HÉCTOR G. JASPER; MARÍA G. ROPELATO

Evaluación de los niveles séricos de la proteína de unión de alta afinidad de la hormona de crecimiento humana (GHBP) y del polimorfismo del exón 3 del gen del receptor de GH en niños con talla baja idiopática

REVISTA ARGENTINA DE ENDOCRINOLOGIA Y METABOLISMO; Lugar: Buenos Aires; Año: 2010 vol. 47 p. 3 - 12

DOMENÉ HM; SCAGLIA PA; JASPER HG

Deficiency of the insulin-like growth factor-binding protein acid-labile subunit (ALS) of the circulating ternary complex in children with short stature.

Pediatric Endocrinology Reviews; Lugar: Netanya, Israel ; Año: 2010 vol. 7 p. 339 - 346

HORACIO M. DOMENÉ; VIVIAN HWA; JESÚS ARGENTE; JAN M. WIT; CECILIA CAMACHO-HÜBNER; HÉCTOR G. JASPER; JESÚS POZO; HERMINE A. VAN DUYVENVOORDE; SHOSHANA YAKAR; OLGA V. FOFANOVA-GAMBETTI; RON G. ROSENFELD; ON BEHALF OF THE INTERNATIONAL ALS COLLABORATIVE GROUP.; THE INTERNATIONAL ALS COLLABORATIVE GROUP ARE PAULA A. SCAGLIA AND SONIA V. BENGOLEA (BUENOS AIRES, ARGENTINA).......

Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences

HORMONE RESEARCH; Lugar: Basilea; Año: 2009 vol. 72 p. 129 - 141

M.G. BALLERINI; H. DOMENÉ; P. SCAGLIA; S.V. BENGOLEA; V. PIPMAN; A. MARTÍNEZ; A. KESELMAN; J.J. HEINRICH; H.G. JASPER; M.G. ROPELATO

Indices de insulinosensibilidad e insulinorresistencia en niños y adolescentes normales?

Revista Hospital de Niños Buenos Aires; Lugar: Buenos Aires; Año: 2008 vol. 50 p. 179 - 187

FREIRE A; CHIESA A; DOMENÉ H; SCAGLIA P; VAINSTEIN E; GRUÑEIRO DE PAPENDIECK L.

Hipotiroidismo congénito central por mutación en el gen bTSH. Una patología no detectada por la pesquisa neonatal.

Revista Hospital de Niños de Buenos Aires; Año: 2008 p. 79 - 83

DOMENÉ HM; SCAGLIA PA; LTEIF A; MAHMUD FH; KIRMANI S; FRYSTYK J; BEDECARRÁS P; GUTIÉRREZ M; JASPER HG

Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.

JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Año: 2007 vol. 92 p. 4444 - 4450

DOMENÉ HM; MARTÍNEZ AS; FRYSTYK J; BENGOLEA SV; ROPELATO MG; SCAGLIA PA; CHEN JW; HEUCK C; WOLTHERS OD; HEINRICH JJ; JASPER HG

Normal growth spurt and final height despite low levels of all forms of circulating insulin-like growth factor-I in a patient with acid-labile subunit deficiency.

HORMONE RESEARCH; Lugar: Basilea, Suiza; Año: 2007 vol. 67 p. 243 - 249

DOMENÉ HM; BENGOLEA SV; MARTÍNEZ AS; ROPELATO MG; PENNISI P; SCAGLIA P; HEINRICH JJ; JASPER HG

Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.

NEW ENGLAND JOURNAL OF MEDICINE; Lugar: Massachusetts ; Año: 2004 vol. 350 p. 570 - 577

DOMENÉ HM; GRUÑEIRO-PAPENDIECK L; CHIESA A; IORCANSKY S; HERZOVICH VC; PAPAZIAN R; FORCLAZ V; PRIETO L; SANSÓ G; SCAGLIA P; BRE M; CHAMOUX A; HEINRICH JJ

The C105fs114X is the prevalent thyrotropin beta-subunit gene mutation in Argentinean patients with congenital central hypothyroidism.

HORMONE RESEARCH; Lugar: Basilea, Suiza; Año: 2004 vol. 61 p. 41 - 46

Y. PIROSANTO; P. SCAGLIA; V. GALERA; S. AYUSO; N. FERNÁNDEZ; E. OSINDE

“Valores de referencia de enzimas séricas en una población pediátrica”.

Revista del Hospital de Niños de Buenos Aires; Lugar: Buenos Aires; Año: 2002 vol. 44 p. 48 - 53

PUYO AM; VEGA GW; PELLEGRINO DE IRALDI A; ALBORNOZ LE; ROSÓN MI; SCAGLIA P; CELENTANO MM; CORAZZA JP; PALUMBO EL; FERNÁNDEZ BE; DE LA RIVA IJ

Atrial natriuretic factor in two kidney--two clip renovascular hypertension in the rat

MEDICINA (BUENOS AIRES); Lugar: Buenos Aires; Año: 1998 vol. 52 p. 165 - 170