IRIS
MINELLI, ANTONELLA
 Distribuzione geografica
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Continente #
EU - Europa 15
NA - Nord America 5
AS - Asia 3
Totale 23
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Nazione #
IT - Italia 15
US - Stati Uniti d'America 5
PS - Palestinian Territory 2
IL - Israele 1
Totale 23
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Città #
Pavia 13
Dallas 3
Ramallah 2
Boardman 1
Milan 1
Ness Ziona 1
Totale 21
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Nome #
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome, file 2b9ee37a-9c27-4621-b22b-3e00cd34a83c 7
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, file e1f104fc-8dc5-8c6e-e053-1005fe0aa0dd 3
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations, file 09fd0607-9a10-4897-9b9b-1f8977b6d35e 1
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, file abfadbba-42a1-411e-b4d4-7d15599e738d 1
Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies., file e1f104fa-0baf-8c6e-e053-1005fe0aa0dd 1
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies, file e1f104fa-0c20-8c6e-e053-1005fe0aa0dd 1
Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR., file e1f104fa-0e0f-8c6e-e053-1005fe0aa0dd 1
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects., file e1f104fa-0f6e-8c6e-e053-1005fe0aa0dd 1
Incidence of Shwachman-Diamond Syndrome in Italy., file e1f104fa-2b10-8c6e-e053-1005fe0aa0dd 1
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome., file e1f104fb-0268-8c6e-e053-1005fe0aa0dd 1
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients, file e1f104fb-0779-8c6e-e053-1005fe0aa0dd 1
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT), file e1f104fb-082d-8c6e-e053-1005fe0aa0dd 1
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene, file e1f104fb-1f51-8c6e-e053-1005fe0aa0dd 1
D8S7 is consistently deleted in inverted duplication of the short arm of chromosome 8 ( inv dup 8p), file e1f104fb-26ca-8c6e-e053-1005fe0aa0dd 1
Shwachman-Diamond syndrome: diagnosis, pathogenesis and prognosis, file e1f104fb-eba5-8c6e-e053-1005fe0aa0dd 1
Totale 23
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Categoria #
all - tutte 137
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 137
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201 1 0 0 0 0 0 0 0 0 0 0 0
2020/20211 1 0 0 0 0 0 0 0 0 0 0 0
2022/202313 0 1 0 3 2 6 0 0 1 0 0 0
Totale 23