Detalhe da pesquisa
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
2.
Multiple tumors due to mosaic genome-wide paternal uniparental disomy.
Pediatr Blood Cancer
; 66(6): e27715, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30882989
3.
Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review.
Pediatr Blood Cancer
; 65(1)2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28834056
4.
Facial asymmetry in head and neck rhabdomyosarcoma survivors.
Pediatr Blood Cancer
; 64(10)2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28423221
5.
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
J Med Genet
; 53(1): 43-52, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26475046
6.
3D morphometry aids facial analysis of individuals with a childhood cancer.
Am J Med Genet A
; 170(11): 2905-2915, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27480448
7.
Brain tumors and syndromes in children.
Neuropediatrics
; 45(3): 137-61, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24535705
8.
No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.
J Pediatr Surg
; 59(3): 459-463, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37989646
9.
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.
JAMA Netw Open
; 6(2): e2254157, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36735256
10.
Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.
Am J Med Genet A
; 173(8): 2293-2295, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544518
11.
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
Am J Med Genet A
; 158A(7): 1719-23, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22628360
12.
3D analysis of facial morphology in Dutch children with cancer.
Comput Methods Programs Biomed
; 205: 106093, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33882417
13.
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.
Fam Cancer
; 20(4): 263-271, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686467
14.
Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation.
Eur J Cancer
; 80: 48-54, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544908
15.
Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study.
BMJ Open
; 7(1): e013237, 2017 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28110285
16.
Face shape differs in phylogenetically related populations.
Eur J Hum Genet
; 22(11): 1268-71, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24398794
17.
The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients.
Eur J Cancer
; 49(15): 3247-54, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23855994
18.
Differentiated thyroid carcinoma after 131I-MIBG treatment for neuroblastoma during childhood: description of the first two cases.
Thyroid
; 22(6): 643-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22524499
19.