Detalhe da pesquisa
1.
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?
Br J Haematol
; 190(1): 93-104, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32080838
2.
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.
J Hum Genet
; 64(11): 1083-1090, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501477
3.
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.
Br J Haematol
; 172(5): 782-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763766
4.
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
Br J Haematol
; 185(5): 994-998, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30460677
5.
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.
Am J Hematol
; 89(10): 985-91, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25042156
6.
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.
Pediatr Blood Cancer
; 61(7): 1319-21, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24453067
7.
Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia.
Haematologica
; 103(12): e607-e609, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30213830
8.
Implications of an Underlying Beckwith-Wiedemann Syndrome for Wilms Tumor Treatment Strategies.
Cancers (Basel)
; 15(4)2023 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831633
9.
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.
Haematologica
; 97(12): 1813-7, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22689679
10.
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
Am J Med Genet A
; 155A(11): 2746-9, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990121
11.
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Hum Mutat
; 31(12): 1269-79, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20960466
12.
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Haematologica
; 95(2): 206-13, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19773262
13.
Remittent hyperammonemia in congenital portosystemic shunt.
Eur J Pediatr
; 169(3): 369-72, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19618212
14.
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
BMC Genomics
; 10: 442, 2009 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19765279
15.
HDR syndrome: a novel "de novo" mutation in GATA3 gene.
Am J Med Genet A
; 149A(4): 770-5, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19248180
16.
Reduction of CFU-GM and circulating hematopoietic progenitors in a subgroup of children with chronic neutropenia associated with severe infections and delayed recovery.
PLoS One
; 14(3): e0213782, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30870474
17.
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.
Hum Mutat
; 29(11): E263-70, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18781615
18.
RPS19 mutations in patients with Diamond-Blackfan anemia.
Hum Mutat
; 29(7): 911-20, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18412286
19.
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
Arch Neurol
; 65(1): 125-31, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18195150
20.
Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia.
Blood
; 118(2): 473-4, 2011 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-21757629