Detalhe da pesquisa
1.
Comprehensive Analysis of Hypermutation in Human Cancer.
Cell
; 171(5): 1042-1056.e10, 2017 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29056344
2.
Prevalence of lung cysts in adolescents and adults with a germline DICER1 pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/DICER1 Registry.
Thorax
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508719
3.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586540
4.
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.
Haematologica
; 109(2): 422-430, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584291
5.
NUT carcinoma in pediatric patients: Characteristics, therapeutic regimens, and outcomes of 11 cases registered with the German Registry for Rare Pediatric Tumors (STEP).
Pediatr Blood Cancer
; 71(3): e30821, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38148490
6.
Author Correction: The landscape of genomic alterations across childhood cancers.
Nature
; 559(7714): E10, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875405
7.
The landscape of genomic alterations across childhood cancers.
Nature
; 555(7696): 321-327, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29489754
8.
Health-related quality of life and fear of progression in individuals with Li-Fraumeni syndrome.
J Genet Couns
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38348940
9.
Second-line treatment of pediatric patients with relapsed rhabdomyosarcoma adapted to initial risk stratification: Data of the European Soft Tissue Sarcoma Registry (SoTiSaR).
Pediatr Blood Cancer
; 70(7): e30363, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066598
10.
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
J Med Genet
; 2022 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768194
11.
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Hum Mutat
; 43(10): 1454-1471, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790048
12.
Cancer incidence and surveillance strategies in individuals with RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 530-540, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36533693
13.
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
J Pediatr
; 230: 55-61.e4, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32971146
14.
Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis.
Acta Neuropathol
; 141(1): 85-100, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33216206
15.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J Med Genet
; 57(4): 269-273, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494577
16.
Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey.
Cancer
; 126(17): 4032-4041, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32557628
17.
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.
Br J Cancer
; 123(4): 619-623, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451468
18.
TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis.
Pediatr Blood Cancer
; 67(6): e28302, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32285995
19.
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
J Med Genet
; 56(2): 53-62, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30415209
20.
RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations.
Am J Respir Crit Care Med
; 209(10): 1266-1268, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38377348