Detalhe da pesquisa
1.
Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.
J Clin Immunol
; 41(5): 1064-1071, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675005
2.
'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.
J Med Genet
; 57(1): 18-22, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31413121
3.
Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.
Scand J Immunol
; 92(4): e12913, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506568
4.
Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.
J Clin Immunol
; 44(5): 115, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676846
5.
Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females.
Am J Med Genet A
; 179(2): 190-195, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561899
6.
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions.
Acta Derm Venereol
; 99(9): 789-796, 2019 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31037311
7.
Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.
Orphanet J Rare Dis
; 19(1): 169, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38637854
8.
Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia.
J Allergy Clin Immunol Glob
; 3(1): 100190, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38187867
9.
Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study.
Orphanet J Rare Dis
; 18(1): 147, 2023 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308912
10.
Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form.
Front Immunol
; 13: 1004694, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36211439
11.
Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19.
Nat Med
; 28(5): 1050-1062, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35177862
12.
Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study.
Orphanet J Rare Dis
; 15(1): 326, 2020 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33213509
13.
The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia.
Front Immunol
; 11: 2020, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32849667
14.
A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.
Front Immunol
; 10: 1581, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31379817
15.
The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2.
Sci Rep
; 9(1): 13758, 2019 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31551465
16.
Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.
Orphanet J Rare Dis
; 13(1): 207, 2018 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30445974
17.
Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases.
J Pediatr Adolesc Gynecol
; 31(4): 422-425, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29462708
18.
A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.
Front Immunol
; 9: 2468, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30410491
19.
Treatment of giardiasis in children: Randomized trial of rectal metronidazole versus oral tinidazole.
J Infect
; 81(5): 816-846, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32882314
20.
Outcome of children with ESBL-E. coli acute pyelonephritis treated with cephalosporins.
J Infect
; 77(1): 75-81, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29746942