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1.
Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality.
J Allergy Clin Immunol;
146(2): 429-437, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32169379
2.
RP-HPLC-ESI-IT Mass Spectrometry Reveals Significant Variations of the Human Salivary Protein Profile Associated with Predominantly Antibody Deficiencies.
J Clin Immunol;
40(2): 329-339, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31916122
3.
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019).
J Clin Immunol;
40(7): 1026-1037, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32803625
4.
Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job's syndrome.
Allergy Asthma Clin Immunol;
19(1): 32, 2023 Apr 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-37081481
5.
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
J Allergy Clin Immunol;
125(2): 424-432.e8, 2010 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-20159255
6.
Metabolomic Characterization of Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS).
Front Neurosci;
15: 645267, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34121984
7.
Autosomal-dominant hyper-IgE syndrome is associated with appearance of infections early in life and/or neonatal rash: Evidence from the Italian cohort of 61 patients with elevated IgE.
J Allergy Clin Immunol Pract;
7(6): 2072-2075.e4, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30797078
8.
Genetics of SCID.
Ital J Pediatr;
36: 76, 2010 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21078154
9.
Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.
Mol Immunol;
46(10): 1935-41, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19410294
10.
Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study.
Clin Immunol;
126(2): 155-64, 2008 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-18037347
11.
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.
Br J Haematol;
119(3): 765-8, 2002 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-12437656
12.
Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis.
Lancet;
359(9309): 841-7, 2002 Mar 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-11897284
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