Detalles de la búsqueda
1.
Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability.
Br J Haematol
; 184(6): 974-981, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30585299
2.
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
Genes Chromosomes Cancer
; 56(1): 51-58, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27553422
3.
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Br J Haematol
; 185(3): 627-630, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30198570
4.
Bioarchaeological and paleogenomic profiling of the unusual Neolithic burial from Grotta di Pietra Sant'Angelo (Calabria, Italy).
Sci Rep
; 13(1): 11978, 2023 07 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-37488251
5.
Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review.
Genes (Basel)
; 14(11)2023 Nov 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38003028
6.
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome.
Haematologica
; 97(7): 1057-63, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22271888
7.
Autologous bone marrow-derived mesenchymal stromal cells in the treatment of fistulising Crohn's disease.
Gut
; 60(6): 788-98, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21257987
8.
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Genes (Basel)
; 13(8)2022 07 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-35893049
9.
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
Front Genet
; 13: 896749, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36035165
10.
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
Blood Cells Mol Dis
; 60: 33-5, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27519942
11.
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.
Mol Cytogenet
; 14(1): 54, 2021 Nov 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-34819134
12.
Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype.
Mol Cytogenet
; 13: 1, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-31908654
13.
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies.
Br J Haematol
; 145(2): 190-7, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19222471
14.
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
Br J Haematol
; 165(4): 573-5, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24484588
15.
Incidence of Shwachman-Diamond syndrome.
Pediatr Blood Cancer
; 59(7): 1334-5, 2012 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22887728
16.
Dietary treatment in adult-onset type II glycogenosis.
J Inherit Metab Dis
; 29(4): 590, 2006 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-16786256
17.
Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects.
Cancer Genet Cytogenet
; 148(2): 155-8, 2004 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-14734230
18.
Living-floors and structures from the Lower Paleolithic to the Bronze Age in Italy.
Coll Antropol
; 28(1): 63-88, 2004 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15636066
19.
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism.
Mol Syndromol
; 4(3): 119-24, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23653583
20.
Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies.
Cancer Genet Cytogenet
; 179(1): 79-81, 2007 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-17981220