Servizio di Colture Cellulari e Citogenetica

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF HUMAN GENETICS

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

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Giant Breast Tumors in a Patient With Beckwith-Wiedemann Syndrome

• ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

  Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects

• EUROPEAN JOURNAL OF HUMAN GENETICS

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

• EUROPEAN JOURNAL OF MEDICAL GENETICS

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

• HUMAN GENE THERAPY

  Transgene Expression up to 7 Years in Nonhuman Primates Following Hepatic Transduction with Helper-Dependent Adenoviral Vectors

• JOURNAL OF INHERITED METABOLIC DISEASE

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

• ONCOTARGET

  Phenylbutyrate increases activity of pyruvate dehydrogenase complex.

• OSTEOPOROSIS INTERNATIONAL

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

• STEM CELLS AND DEVELOPMENT

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