Search Results - "Santacroce, Rossana"

The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene by Querques, Giuseppe, Zerbib, Jennyfer, Santacroce, Rossana, Margaglione, Maurizio, Delphin, Nathalie, Querques, Lea, Rozet, Jean-Michel, Kaplan, Josseline, Souied, Eric H

“…To describe the morphologic and functional characteristics of subclinical Best vitelliform macular dystrophy (VMD) in subjects with mutation in the BEST1 gene…”
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Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene by Querques, Giuseppe, Zerbib, Jennyfer, Santacroce, Rossana, Margaglione, Maurizio, Delphin, Nathalie, Rozet, Jean-Michel, Kaplan, Josseline, Martinelli, Domenico, Delle Noci, Nicola, Soubrane, Gisèle, Souied, Eric H

“…To analyze functional and clinical data of Best vitelliform macular dystrophy (VMD) patients with mutations in the BEST1 gene. Best VMD patients with BEST1…”
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C0268 Higher risk of idiopathic small for gestational age newborns in Italian women carrying the annexin A5 M2 haplotype by Luca Tiscia, Giovanni, Colaizzo, Donatella, Favuzzi, Giovanni, D'Andrea, Giovanna, Vergura, Patrizia, Santacroce, Rossana, Margaglione, Maurizio, Grandone, Elvira

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Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) by Schirinzi, Annalisa, Centra, Marta, Prattichizzo, Clelia, Gigante, Maddalena, De Fabritiis, Marco, Giancaspro, Vincenzo, Petrarulo, Francesco, Santacroce, Rossana, Margaglione, Maurizio, Gesualdo, Loreto, Ranieri, Elena

“…Fabry disease is an under-recognized X-linked lysosomal disorder, due to α-galactosidase A deficiency. Most of the mutations in the GLA gene are detectable…”
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