Detalhe da pesquisa
1.
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
J Med Genet
; 61(6): 595-604, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408845
2.
RNF213-associated urticarial lesions with hypercytokinemia.
J Allergy Clin Immunol
; 150(6): 1545-1555, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35780935
3.
Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.
Rheumatology (Oxford)
; 62(1): 473-479, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35640127
4.
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
Eur Respir J
; 56(6)2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32855221
5.
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
Am J Hum Genet
; 99(2): 489-500, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486783
6.
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.
Hum Mol Genet
; 25(8): 1457-67, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26792177
7.
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
Am J Hum Genet
; 97(1): 153-62, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073779
8.
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.
Eur Respir J
; 49(5)2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28495692
9.
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
Hum Mutat
; 37(8): 776-85, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120127
10.
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Am J Hum Genet
; 93(3): 561-70, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993197
11.
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
Am J Hum Genet
; 91(5): 958-64, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122589
12.
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.
Eur J Hum Genet
; 31(9): 1083-1087, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37380697
13.
A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.
Elife
; 122023 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342083
14.
De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.
Arthritis Rheumatol
; 75(3): 468-474, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36122175
15.
Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder.
Arthritis Rheum
; 62(4): 1176-85, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20131254
16.
Review and update of mutations causing Waardenburg syndrome.
Hum Mutat
; 31(4): 391-406, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20127975
17.
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Am J Hum Genet
; 81(6): 1169-85, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17999358
18.
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
Eur J Hum Genet
; 16(6): 680-7, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18197200
19.
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
Hum Mutat
; 28(4): 313-21, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17203459
20.
Mowat-Wilson syndrome in a Moroccan consanguineous family.
Indian J Hum Genet
; 13(3): 122-4, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21957361