Detalhe da pesquisa
1.
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Clin Genet
; 105(5): 581-583, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38379111
2.
Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS).
Genet Med
; 25(12): 100969, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37634128
3.
Anti-BP180 IgG antibody ELISA values correlate with adverse pregnancy outcomes in pemphigoid gestationis.
J Eur Acad Dermatol Venereol
; 37(6): 1207-1214, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36802102
4.
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Clin Genet
; 101(1): 32-47, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34240408
5.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445792
6.
Dermatoscopic and clinical features of congenital or congenital-type nail matrix nevi: A multicenter prospective cohort study by the International Dermoscopy Society.
J Am Acad Dermatol
; 87(3): 551-558, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104588
7.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1484-1491, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833411
8.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415748
9.
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
; 57(12): 808-819, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409512
10.
Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.
Biochem Biophys Res Commun
; 530(3): 520-526, 2020 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620236
11.
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Clin Genet
; 98(1): 19-31, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32291752
12.
Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation.
Pediatr Dermatol
; 37(6): 1128-1130, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32770747
13.
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Hum Mutat
; 40(12): 2430-2443, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31379041
14.
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Hum Mutat
; 40(12): 2318-2333, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31347739
15.
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.
Genet Med
; 21(7): 1657-1661, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30563986
16.
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.
Genet Med
; 21(5): 1189-1198, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30270358
17.
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Genet Med
; 21(9): 2025-2035, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723320
18.
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.
Br J Dermatol
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623710
19.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Circulation
; 136(11): 1037-1048, 2017 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28687708
20.
First-line rituximab combined with short-term prednisone versus prednisone alone for the treatment of pemphigus (Ritux 3): a prospective, multicentre, parallel-group, open-label randomised trial.
Lancet
; 389(10083): 2031-2040, 2017 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28342637