Detalhe da pesquisa
1.
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
J Med Genet
; 61(5): 411-419, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290824
2.
Capillary malformations in a child caused by a novel HRAS mutation.
Pediatr Dermatol
; 41(2): 289-291, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38018302
3.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436516
4.
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
Hum Reprod
; 38(3): 511-519, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36625546
5.
Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.
Int J Mol Sci
; 23(7)2022 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35409398
6.
Comprehensive targeted next-generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumor.
Genes Chromosomes Cancer
; 60(4): 239-249, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33258138
7.
Comprehensive immunomolecular profiling of endometrial carcinoma: A tertiary retrospective study.
Gynecol Oncol
; 162(3): 694-701, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34253388
8.
An update on congenital melanocytic nevus syndrome: A case report and literature review.
J Cutan Pathol
; 48(12): 1497-1503, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255877
9.
Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways.
Annu Rev Genomics Hum Genet
; 18: 115-142, 2017 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28859574
10.
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.
Genet Med
; 22(5): 889-897, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015538
11.
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Clin Genet
; 97(2): 264-275, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31573083
12.
NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation.
Acta Neuropathol
; 139(1): 157-174, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31664505
13.
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.
Nature
; 514(7521): 247-51, 2014 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25119042
14.
Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism.
Childs Nerv Syst
; 36(10): 2285-2295, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32601904
15.
Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.
Pediatr Dermatol
; 37(5): 890-895, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32662096
16.
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site.
Hum Mutat
; 40(10): 1760-1767, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31066482
17.
Gonadales und gonadosomatisches Neurofibromatose-Typ-1-Mosaik: ein Bericht über zwei Familien: Gonadal and gonadosomatic mosaicism in NF1: report of two families.
J Dtsch Dermatol Ges
; 22(3): 426-429, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38450814
18.
Gonadal and gonadosomatic mosaicism in NF1: report of two families.
J Dtsch Dermatol Ges
; 22(3): 426-428, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38185792
19.
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
Pediatr Dermatol
; 35(3): e186-e188, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29493003
20.
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
J Biol Chem
; 291(7): 3124-34, 2016 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26635368