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1.
The role of clonal hematopoiesis as driver of therapy-related myeloid neoplasms after autologous stem cell transplantation.
Ann Hematol
; 101(6): 1227-1237, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35380239
2.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
J Allergy Clin Immunol
; 143(6): 2317-2321.e12, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30822429
3.
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
J Allergy Clin Immunol
; 132(3): 656-664.e17, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23830146
4.
Progressive severe B cell and NK cell deficiency with T cell senescence in adult CD40L deficiency.
Clin Immunol
; 190: 11-14, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29476811
5.
Immunoglobulin M levels inversely correlate with CD40 ligand promoter methylation in patients with primary biliary cirrhosis.
Hepatology
; 55(1): 153-60, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21898485
6.
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
Am J Med Genet A
; 161A(10): 2614-9, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23950054
7.
Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene.
Brain Sci
; 13(8)2023 Aug 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37626534
8.
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.
Blood
; 116(26): 5867-74, 2010 Dec 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-20702779
9.
p85α is an intrinsic regulator of human natural killer cell effector functions.
J Allergy Clin Immunol
; 138(2): 605-608.e3, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27016802
10.
Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene.
Stem Cell Res
; 54: 102430, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34182252
11.
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.
Clin Immunol
; 159(1): 33-6, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25939554
12.
Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.
J Allergy Clin Immunol
; 133(5): 1462-5, 1465.e1-5, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24373355
13.
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
Stem Cell Res
; 42: 101660, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31794943
14.
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene.
Stem Cell Res
; 49: 102007, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33010677
15.
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients.
Clin Pharmacol Ther
; 108(2): 358-367, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32243572
16.
Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?
Dermatol Ther (Heidelb)
; 10(1): 213-220, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-31691923
17.
Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients.
J Clin Med
; 9(10)2020 Oct 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-33080915
18.
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.
Stem Cell Res
; 35: 101393, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30711802
19.
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.
Stem Cell Res
; 41: 101623, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31698194
20.
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.
Stem Cell Res
; 41: 101620, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31678772