Detalhe da pesquisa
1.
Undergrowth Of First Toe In PiK3CA-Related Overgrowth Spectrum (PROS).
Ann Vasc Surg
; 88: 233-238, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35878698
2.
Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study.
Clin Genet
; 101(3): 296-306, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34850385
3.
KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib.
Clin Genet
; 100(4): 484-485, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34190333
4.
A six-attribute classification of genetic mosaicism.
Genet Med
; 22(11): 1743-1757, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32661356
5.
Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation.
Clin Genet
; 95(4): 516-519, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635911
6.
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Genet Med
; 20(8): 882-889, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29446767
7.
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Clin Genet
; 99(3): 481-483, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33226119
8.
Capillary malformation with segmental distribution and central atrophy: A series of 7 cases.
J Am Acad Dermatol
; 83(1): 213-214, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31541744
9.
Klinische Überlappung zwischen CLAPO-Syndrom und Megalenzephalie-Kapillarfehlbildungen-Polymikrogyrie-Syndrom.
J Dtsch Dermatol Ges
; 18(5): 480-484, 2020 May.
Artigo
em Alemão
| MEDLINE | ID: mdl-32413214
10.
Clinical overlap between CLAPO syndrome and macrocephaly-capillary malformation syndrome.
J Dtsch Dermatol Ges
; 18(5): 479-482, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413215
11.
Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies.
Genet Mol Biol
; 37(1 Suppl): 241-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24764758
12.
Lymphatic Malformations in Parkes Weber's Syndrome: Retrospective Review of 16 Cases in a Vascular Anomalies Center.
Eur J Pediatr Surg
; 34(1): 78-83, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595632
13.
Genetic Profile of Arteriovenous Anomalies of the Head and Neck: Implications in Progression and Therapeutic Approaches.
J Pediatr Surg
; 58(10): 2043-2049, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868957
14.
Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach.
Orphanet J Rare Dis
; 17(1): 189, 2022 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35526022
15.
Larotrectinib as an Effective Therapy in Congenital Infantile Fibrosarcoma: Report of Two Cases.
European J Pediatr Surg Rep
; 10(1): e76-e79, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761904
16.
Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR).
Atherosclerosis
; 311: 37-43, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32937241
17.
Congenital hepatic hemangiomas: Clinical, histologic, and genetic correlation.
J Pediatr Surg
; 55(10): 2170-2176, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32115227
18.
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.
J Exp Med
; 216(2): 407-418, 2019 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591517
19.
Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.
PLoS One
; 10(8): e0136812, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26317783