Servizio di Colture Cellulari e Citogenetica

Pubblicazioni Scientifiche

• 2012 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype

• 2013 JOURNAL OF INHERITED METABOLIC DISORDERS REPORTS

  Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy

• 2014 Molecular Genetics & Genomic Medicine

  Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation

• 2014 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

  Phenylbutyrate increases PDHC activity in cells harboring a variety of defects

• 2014 EUROPEAN JOURNAL OF HUMAN GENETICS

  SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

• 2013 ONCOTARGET

  Phenylbutyrate increases activity of pyruvate dehydrogenase complex.

• 2012 EUROPEAN JOURNAL OF MEDICAL GENETICS

  Focal congenital lipoatrophy and vascular malformation: A mild form of inverse Klippel-Trenaunay syndrome?

• 2013 STEM CELLS AND DEVELOPMENT

  MePR: A Novel Human Mesenchymal Progenitor Model with Characteristics of Pluripotency

• 2013 OSTEOPOROSIS INT

  Next-generation sequencing for disorders of low and high bone mineral density

• 2013 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease

• 2013 HUMAN GENE THERAPY

  Transgene expression up to 7 years in nonhuman primates following hepatic transduction with helper-dependent adenoviral vectors

• 2015 JOURNAL OF INHERITED METABOLIC DISEASE

  Differential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetate

• 2014 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Giant Breast Tumors in a Patient With Beckwith-Wiedemann Syndrome

• 2012 AMERICAN JOURNAL OF HUMAN GENETICS

  DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution