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Severe Pre- and Postnatal Growth Retardation in a Child Harboring a Novel Homozygous IGF1 Gene Mutation | ESPE2018
Keselman Ana Claudia; Scaglia Paula Alejandra; Ayelen Martin; Romina Armando; Sanguineti Nora Maria; Mariana Gutierrez; Debora B
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p143.htm
Published: 2018-08-28

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Monogenic and Digenic Gene Mutations are Present in Children with Idiopathic Short Stature (ISS) | ESPE2018
Nora Maria Sanguineti; Laura Ramirez; Ana Claudia Keselman; Paula Alejandra Scaglia; Maria Gabriela Ropelato; Maria Gabriela Bal
http://abstracts.eurospe.org/hrp/0089/hrp0089fc4.1.htm
Published: 2018-08-28

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Functional in vitro Characterization of Two Novel Germinal STAT3 Mutations Associated with Short Stature, Immunodeficiency and Autoimmune Disease | ESPE2016
Mariana Gutierrez; Paula Scaglia; Ana Keselman; Lucia Martucci; Liliana Karabatas; Sabina Domene; Miguel Blanco; Nora Sanguinett
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p596.htm
Published: 2016-08-19

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In Vitro Functional Characterization Of IGFALS Gene Variants Found In ALS Deficient or Idiopathic Short Stature (ISS) Children | ESPE2015
Lucia Martucci; Paula Scaglia; Liliana Karabatas; Rodolfo Rey; Horacio Domene; Sabina Domene; Hector Jasper
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-480.htm
Published: 2015-08-26

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Recurrent IGFALS Gene Mutations p.E35Gfs*17 and p.(L409F; A475V): Hot Spot or Founder Effect? | ESPE2015
Paula Scaglia; Andrea Sala; Ignacio Bergada; Debora Braslavsky; Ana Keselman; Angela Espinola-Castro; Sabina Domene; Hector Jasp
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-463.htm
Published: 2015-08-26

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Severe IGF1 Deficiency and Multi-Organ Autoimmune Disease Associated with Novel Germline STAT3 Mutations | ESPE2015
Paula Scaglia; Ana Keselman; Mariana Gutierrez; Sabina Domene; Miguel Blanco; Nora Sanguinetti; Liliana Bezrodnik; Giovanni Dani
http://abstracts.eurospe.org/hrp/0084/hrp0084p1-93.htm
Published: 2015-08-26

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A New Syndrome Associated with Mutations in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2) Causing Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density in two Unrelated Families | ESPE2015
Andrew Dauber; Maria T Munoz-Calvo; Vicente Barrios; Vardhini Desikan; Jesus Pozo; Radhika Muzumdar; Gabriel A Martos-Moreno; Fe
http://abstracts.eurospe.org/hrp/0084/hrp0084ha2.htm
Published: 2015-08-26

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ALS Deficiency due to a Novel and Two Already Described IGFALS Gene Mutations in an Unusual Non Consanguineous Family: Two Compound Heterozygous (Father and Son) and Two Heterozygous Carriers (Brother and Mother) | ESPE2014
Paula Scaglia; Ana Keselman; Lucia Martucci; Liliana Karabatas; Maria Gabriela Ballerini; Sabina Domene; Acosta Johanna; Hector
http://abstracts.eurospe.org/hrp/0082/hrp0082p2-d1-412.htm
Published: 2014-08-28

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GHR Gene Variants within Coding and Intronic Regions in Children with Idiopathic Short Stature | ESPE2014
Maria Gabriela Ballerini; Paula Scaglia; Alicia Martinez; Ana Keselman; Debora Braslavsky; Ignacio Bergada; Hector Guillermo Jas
http://abstracts.eurospe.org/hrp/0082/hrp0082p2-d1-410.htm
Published: 2014-08-28

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TSH Receptor Gene Variants in Pediatric Patients with Non Autoimmune Hyperthyrotropinemia | ESPE2014
Paula Scaglia; Ana Keselman; Laura Gruneiro Papendieck; Patricia Papendieck; Ignacio Bergada; Horacio Domene; Ana Chiesa
http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d1-233.htm
Published: 2014-08-28

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