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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
- A. Musio, A. Selicorni, L. Larizza
- BiologyNature Genetics
- 9 April 2006
TLDR
Rothmund-Thomson syndrome
- L. Larizza, G. Roversi, L. Volpi
- MedicineOrphanet journal of rare diseases
- 29 January 2010
TLDR
Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study.
- R. Cairoli, A. Beghini, E. Morra
- Biology, MedicineBlood
- 16 November 2004
TLDR
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
TLDR
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
- Maila Giannandrea, V. Bianchi, P. D’Adamo
- BiologyAmerican journal of human genetics
- 12 February 2010
C-kit mutations in core binding factor leukemias.
- A. Beghini, P. Peterlongo, C. Mecucci
- Biology, MedicineBlood
- 15 January 2000
TLDR
13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients
- L. Ballarati, E. Rossi, D. Giardino
- MedicineJournal of Medical Genetics
- 6 July 2006
TLDR
KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication.
- A. Beghini, C. Ripamonti, L. Larizza
- Biology, MedicineHaematologica
- 2004
TLDR
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
- L. Volpi, G. Roversi, L. Larizza
- Biology, MedicineAmerican journal of human genetics
- 8 January 2010
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