Detalhe da pesquisa
1.
Immunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course.
J Investig Allergol Clin Immunol
; 33(4): 263-270, 2023 Jul 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35166674
2.
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Am J Hum Genet
; 103(5): 777-785, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30401459
3.
Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.
J Clin Immunol
; 41(5): 1064-1071, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33675005
4.
DDX5 and its associated lncRNA Rmrp modulate TH17 cell effector functions.
Nature
; 528(7583): 517-22, 2015 Dec 24.
Artigo
Inglês
| MEDLINE | ID: mdl-26675721
5.
'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.
J Med Genet
; 57(1): 18-22, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31413121
6.
Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.
Scand J Immunol
; 92(4): e12913, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-32506568
7.
Hair abnormality in Netherton syndrome observed under polarized light microscopy.
J Am Acad Dermatol
; 83(3): 847-853, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32029302
8.
Woolly hair nevus: case report and review of literature.
Dermatol Online J
; 26(1)2020 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-32155026
9.
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Am J Hum Genet
; 99(6): 1292-1304, 2016 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27866708
10.
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.
J Clin Immunol
; 39(1): 81-89, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30607663
11.
P63-related disorders: Dermatological characteristics in 22 patients.
Exp Dermatol
; 28(10): 1190-1195, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31585491
12.
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.
Am J Med Genet A
; 179(9): 1709-1717, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31250547
13.
Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females.
Am J Med Genet A
; 179(2): 190-195, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30561899
14.
Characteristic findings by phototrichogram in southern Chinese women with Female pattern hair loss.
Skin Res Technol
; 25(4): 447-455, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-30614573
15.
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.
Medicina (Kaunas)
; 55(3)2019 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-30934652
16.
Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia.
J Clin Immunol
; 43(6): 1139-1142, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37115363
17.
Decreased telomere length in children with cartilage-hair hypoplasia.
J Med Genet
; 54(5): 365-370, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27986801
18.
Cartilage hair hypoplasia with cutaneous lymphomatoid granulomatosis.
Clin Exp Dermatol
; 43(6): 713-717, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29744913
19.
Japanese siblings with cartilage-hair hypoplasia exhibiting different severity.
Pediatr Int
; 65(1): e15557, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37365876
20.
Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
J Allergy Clin Immunol
; 140(4): 1120-1129.e1, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28126377