Detalhe da pesquisa
1.
Gastrointestinal stromal tumours: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up.
Ann Oncol
; 33(1): 20-33, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34560242
2.
Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?
Clin Genet
; 91(4): 529-535, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-27716896
3.
Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up.
Ann Oncol
; 32(12): 1520-1536, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34500044
4.
Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-upâ.
Ann Oncol
; 32(11): 1348-1365, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34303806
5.
Clinical implementation of NIPT - technical and biological challenges.
Clin Genet
; 89(5): 523-30, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25867715
6.
Risk-reducing mastectomy in BRCA carriers: survival is not the issue.
Breast Cancer Res Treat
; 179(1): 251-252, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31541380
7.
Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.
Clin Genet
; 87(4): 378-82, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24697860
8.
Role of visual evoked potentials in the assessment and management of optic pathway gliomas in children.
Doc Ophthalmol
; 127(3): 177-90, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23884797
9.
Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group.
J Intellect Disabil Res
; 57(9): 874-86, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23095048
10.
Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis.
Nat Genet
; 3(2): 122-6, 1993 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-8499945
11.
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Nat Genet
; 18(2): 171-3, 1998 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-9462749
12.
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
Nat Genet
; 23(1): 94-8, 1999 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-10471507
13.
Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
Br J Cancer
; 106(8): 1460-3, 2012 Apr 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22415235
14.
Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.
Breast Cancer Res Treat
; 133(1): 393-8, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22370629
15.
PGD for a complex chromosomal rearrangement by array comparative genomic hybridization.
Hum Reprod
; 26(4): 941-9, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21292638
16.
Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions.
Hum Reprod
; 24(6): 1522-8, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19278970
17.
Clinical and molecular aspects of RAS related disorders.
J Med Genet
; 45(11): 695-703, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18550698
18.
BRCA1/2 predictive testing and gender: uptake, motivation and psychological characteristics.
Genet Couns
; 20(4): 293-305, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-20162864
19.
Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report.
Ophthalmic Genet
; 39(2): 247-250, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29161159
20.
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
Science
; 362(6419): 1177-1182, 2018 12 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30442762