User profiles for Maja Di Rocco
Maja Di RoccoMD, Giannina Gaslini INstitute, Genoa, Italy Verified email at ospedale-gaslini.ge.it Cited by 11362 |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
…, I Desguerre, K Devriendt, M Di Rocco… - American journal of …, 2015 - Wiley Online Library
Aicardi–Goutičres syndrome is an inflammatory disease occurring due to mutations in any
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
…, RJ Thompson, B Lo, OW Quarrell, M Di Rocco… - Nature …, 2004 - nature.com
ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized
by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal …
by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal …
[PDF][PDF] Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2
…, AM Childs, A Clarke, YJ Crow, M Di Rocco… - The American Journal of …, 2009 - cell.com
Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can
occur in otherwise healthy children after common viral infections such as influenza and …
occur in otherwise healthy children after common viral infections such as influenza and …
[HTML][HTML] A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency
…, P Deegan, M Di Rocco… - … England Journal of …, 2015 - Mass Medical Soc
Background Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks
down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial …
down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial …
Agenesis of the corpus callosum: clinical and genetic study in 63 young patients
…, MA Battaglia, AM Panarisi, M Di Rocco… - Pediatric …, 2006 - Elsevier
This study reports the clinical features of 63 patients with agenesis of the corpus callosum
who received in-depth genetic, clinical, and laboratory testing with the aim to contribute to a …
who received in-depth genetic, clinical, and laboratory testing with the aim to contribute to a …
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
Arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) is a multisystem disorder
associated with abnormalities in polarized liver and kidney cells. Mutations in VPS33B …
associated with abnormalities in polarized liver and kidney cells. Mutations in VPS33B …
Genotype–phenotype correlations and clinical diagnostic criteria in Wolf‐Hirschhorn syndrome
…, A Zappalŕ, A Battaglia, M Di Rocco… - American journal of …, 2000 - Wiley Online Library
We report on a clinical‐genetic study of 16 Wolf‐Hirschhorn syndrome (WHS) patients.
Hemizygosity of 4p16.3 was detected by conventional prometaphase chromosome analysis (11 …
Hemizygosity of 4p16.3 was detected by conventional prometaphase chromosome analysis (11 …
[HTML][HTML] GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1)
deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000–1…
deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000–1…
[PDF][PDF] Null leukemia inhibitory factor receptor (LIFR) mutations in Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome
…, D Scheffer, C Huber, LI Al-Gazali, M Di Rocco… - The American Journal of …, 2004 - cell.com
Stüve-Wiedemann syndrome (SWS) is a severe autosomal recessive condition characterized
by bowing of the long bones, with cortical thickening, flared metaphyses with coarsened …
by bowing of the long bones, with cortical thickening, flared metaphyses with coarsened …
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
…, W Le Goff, V Serre, A Afenjar, A Destrée, M Di Rocco… - Nature …, 2012 - nature.com
Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature,
short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive …
short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive …