RESEARCH ARTICLE Chromosome Abnormalities Investigated by Non-Invasive Prenatal Testing Account for Approximately 50% of Fetal Unbalances Associated With Relevant Clinical Phenotypes Francesca Romana Grati,1* Andrea Barlocco,1 Beatrice Grimi,1 Silvia Milani,1 Giuditta Frascoli,1 Anna Maria Di Meco,1 Rosaria Liuti,1 Anna Trotta,1 Sara Chinetti,1 Francesca Dulcetti,1 Anna Maria Ruggeri,1 Simona De Toffol,1 Maurizio Clementi,2 Federico Maggi,1 and [...]
Archivio per gennaio, 2010
- Chromosome Abnormalities Investigated by Non-Invasive Prenatal Testing Account for Approximately 50% of Fetal Unbalances Associated With Relevant Clinical Phenotypes
sabato, gennaio 23rd, 2010- Quantitative Fluorescence-Polymerase Chain Reaction Assay for the Detection of the Duplication of the Charcot Marie Tooth Disease Type 1A Critical Region
lunedì, gennaio 18th, 2010ORIGINAL ARTICLES Quantitative Fluorescence-Polymerase Chain Reaction Assay for the Detection of the Duplication of the Charcot Marie Tooth Disease Type 1A Critical Region Simona De Toffol,1 Emilia Bellone,2 Francesca Dulcetti,1 Anna Maria Ruggeri,1 Pietro Paolo Maggio,3 Maria Rosaria Pulimeno,4 Paola Mandich,2 Federico Maggi,1 Giuseppe Simoni,1 and Francesca Romana Grati1 Charcot Marie tooth (CMT) syndrome is [...]
- Prenatal diagnosis of del(4)(q27q31.23), due to a maternal balanced complex chromosome rearrangement, characterized by array-CGH
lunedì, gennaio 4th, 2010PRENATAL DIAGNOSIS Prenat Diagn 2010; 30: 280–283. Published online 4 January 2010 in Wiley InterScience (www.interscience.wiley.com) DOI: 10.1002/pd.2439 RESEARCH LETTER Prenatal diagnosis of del(4)(q27q31.23), due to a maternal balanced complex chromosome rearrangement, characterized by array-CGH Francesca Malvestiti1* , Simona De Toffol1, Sara Chinetti1, Beatrice Grimi1, Giancarlo Favero2, Alessandro Borsatti3, Federico Maggi1, Giuseppe Simoni1 and Francesca [...]
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