Publications by authors named "Maria Baffico"

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SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators.
Silvia Vannelli, Maria Baffico, Raffaele Buganza, Francesca Verna, Giulia Vinci

Ital J Pediatr· November 2020

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Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.
David J Bunyan, Maria Baffico, Lucia Capone, Silvia Vannelli, Lorenzo Iughetti

Am J Med Genet A· April 2016

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Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia.
Chiara Barone, Giovanni Bartoloni, A Maria Baffico, Elisa Pappalardo, Isabella Mura

Congenit Anom (Kyoto)· August 2014

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Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Valeria Faà, Federica Incani, Alessandra Meloni, Denise Corda, Maddalena Masala, A Maria Baffico

J Biol Chem· October 2009

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Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.
Federica Natacci, Maria Baffico, Ugo Cavallari, Maria Francesca Bedeschi, Isabella Mura

Am J Med Genet A· March 2008

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Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.
Alfredo Nazzaro, Matteo Della Monica, Fortunato Lonardo, Arturo Di Blasi, Maria Baffico

Prenat Diagn· November 2004

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Hb Trento: an elongated C-terminal beta chain due to a new frameshift mutation [beta144 (-A)].
Giovanni Ivaldi, Onorata David, Maria Baffico, Daniela Leone, Maurizia Baldi

Hemoglobin· February 2003

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Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes.
Amnon Cohen, Roberta Mulas, Marco Seri, Alberto Gaiero, Graziella Fichera, Maria Baffico

Am J Med Genet· January 2002

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