Detalhe da pesquisa
1.
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Hum Mol Genet
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676400
2.
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.
J Med Genet
; 60(1): 84-90, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916230
3.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266292
4.
Intralesional corticosteroids and diathermy ablation for the management of anogenital granulomatosis: a retrospective cohort study.
Clin Exp Dermatol
; 47(9): 1679-1685, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35546092
5.
An interesting case of thigh cellulitis: The streptococcal sex syndrome.
Australas J Dermatol
; 63(4): 493-494, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36222445
6.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1315-1324, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864021
7.
Systematic Review of Magnetic Resonance Lymphangiography From a Technical Perspective.
J Magn Reson Imaging
; 53(6): 1766-1790, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33625795
8.
Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis.
J Med Genet
; 57(10): 653-659, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409509
9.
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon.
Int J Mol Sci
; 19(8)2018 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30071673
10.
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1376-1377, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040196
11.
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.
Circ Res
; 112(6): 956-60, 2013 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23410910
12.
Magnetic resonance lymphangiography: Establishing normal.
J Vasc Surg Venous Lymphat Disord
; : 101870, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513796
13.
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Hum Mutat
; 34(1): 23-31, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23074044
14.
A Genetic Approach to the Classification of Primary Lymphoedema and Lymphatic Malformations.
Eur J Vasc Endovasc Surg
; 56(4): 465-466, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055909
15.
Intralymphatic granulomas in lymphoedema secondary to anogenital granulomatosis.
Australas J Dermatol
; 54(3): e59-61, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22780576
16.
Chromoblastomycosis Treated With Posaconazole and Adjunctive Imiquimod: Lending Innate Immunity a Helping Hand.
Open Forum Infect Dis
; 10(4): ofad124, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37035498
17.
Profound and selective lymphopaenia in primary lymphatic anomaly patients demonstrates the significance of lymphatic-lymphocyte interactions.
Front Immunol
; 14: 1279077, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38022535
18.
Erythematous capillary-lymphatic malformations mimicking blood vascular anomalies.
JCI Insight
; 8(20)2023 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37698920
19.
Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition.
Front Genet
; 13: 1001105, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36238151
20.
Image registration and subtraction in dynamic magnetic resonance lymphangiography (MRL) of the legs.
BJR Case Rep
; 8(4): 20210237, 2022 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36451913