Publications by authors named "Maria G Obregon"

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Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.
Mariana Del Pino, Victoria Huckstadt, Francisca Diaz-Gonzalez, Maria Gabriela Obregon, Karen E Heath

Am J Med Genet A· August 2023

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DGAT1 mutation in two sisters with failure to thrive: a case report.
M Agustina Valentini, Valeria A Fedrizzi, Andrea G Krochik, Silvina Abbate, Mariela Ferrari

Arch Argent Pediatr· February 2023

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Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.
Silvia Caino, Marisa Angelica Cubilla, Romina Alba, María Gabriela Obregón, Virginia Fano

Genes (Basel)· November 2022

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Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome.
Josefina Chinton, Victoria Huckstadt, Maria Eugenia Foncuberta, Maria Mercedes Perez, Mara Cecilia Bonetto, María Gabriela Obregon

Am J Med Genet A· August 2022

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Osteochondromatosis: clinical variability and factors related to quality of life in children and adults.
Silvia Caino, Romina Alba, Silvina Bevilacqua, Mariana Roizen, María G Obregón

Arch Argent Pediatr· June 2022

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Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
Roxana Marino, Natalia Perez Garrido, Pablo Ramirez, Guillermo Notaristéfano, Angélica Moresco

J Clin Endocrinol Metab· June 2021

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Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.
Mariana Amina Loos, Gimena Gomez, Lía Mayorga, Roberto Horacio Caraballo, Hernán Diego Eiroa, María Gabriela Obregon

Mol Genet Metab Rep· June 2021

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Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
Victoria Huckstadt, Josefina Chinton, Abel Gomez, María Gabriela Obregon, Luis Pablo Gravina

Am J Med Genet A· April 2021

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Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Marcela D Mena, Angélica A Moresco, Sofía H Vidal, Diana Aguilar-Cortes, María G Obregon

Front Genet· March 2021

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Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.
Boris Rebolledo-Jaramillo, Maria Gabriela Obregon, Victoria Huckstadt, Abel Gomez, Gabriela M Repetto

Genes (Basel)· January 2021

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Rubinstein-Taybi syndrome in diverse populations.
Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, Yonit A Addissie, Bryan Malonga, María Gabriela Obregon

Am J Med Genet A· December 2020

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Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
Fanny Kortüm, Marcello Niceta, Monia Magliozzi, Katja Dumic Kubat, Stephen P Robertson, Maria Gabriela Obregon

Eur J Med Genet· September 2020

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Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.
Rosario Ramos Mejía, Miriam Aza-Carmona, Mariana Del Pino, Karen E Heath, Virginia Fano, Maria Gabriela Obregon

J Pediatr Genet· March 2020

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Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Josefina Chinton, Victoria Huckstadt, Mafalda Mucciolo, Francesca Lepri, Antonio Novelli, María Gabriela Obregon

Am J Med Genet A· February 2020

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Turner syndrome in diverse populations.
Paul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, Kelly L Jones, Sarah K Savage, María Gabriela Obregon

Am J Med Genet A· February 2020

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SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.
Mariana Del Pino, Miriam Aza-Carmona, David Medino-Martín, Abel Gomez, Karen E Heath, María Gabriela Obregon

J Pediatr Genet· September 2019

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Williams-Beuren syndrome in diverse populations.
Paul Kruszka, Antonio R Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, María Gabriela Obregon

Am J Med Genet A· May 2018

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[Pai syndrome: Two new cases with unusual manifestations].
Victoria Huckstadt, María E Heis Mendoza, Angélica Moresco, María G Obregon

Arch Argent Pediatr· April 2018

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Noonan syndrome in diverse populations.
Paul Kruszka, Antonio R Porras, Yonit A Addissie, Angélica Moresco, Sofia Medrano, María G Obregon

Am J Med Genet A· September 2017

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22q11.2 deletion syndrome in diverse populations.
Paul Kruszka, Yonit A Addissie, Daniel E McGinn, Antonio R Porras, Elijah Biggs, María Gabriela Obregon

Am J Med Genet A· April 2017

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Down syndrome in diverse populations.
Paul Kruszka, Antonio R Porras, Andrew K Sobering, Felicia A Ikolo, Samantha La Qua, María Gabriela Obregon

Am J Med Genet A· January 2017

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A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
Shahida Moosa, Virginia Fano, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele

Am J Med Genet A· September 2016

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Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
Shahida Moosa, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele, Peter Nürnberg

Am J Med Genet A· May 2016

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[Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia].
Rosario Ramos Mejía, Mariana del Pino, María G Obregón, Virginia Fano

Arch Argent Pediatr· December 2015

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[Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma].
Adrián Collia, Alejandra Antacle, María José Veloso, María Gabriela Obregón

Arch Argent Pediatr· August 2012

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