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1.
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Brain
; 145(9): 3274-3287, 2022 09 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35769015
2.
Ectopic intracranial retinoblastoma in a 3.5-month-old infant without eye involvement and without evidence of heritability.
Pediatr Blood Cancer
; 66(5): e27599, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30604586
3.
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
Am J Hum Genet
; 96(5): 765-74, 2015 May 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25913037
4.
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Am J Hum Genet
; 95(6): 698-707, 2014 Dec 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-25434003
5.
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.
Am J Med Genet A
; 173(4): 1017-1037, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28168833
6.
Incidence of second cancers after radiotherapy and systemic chemotherapy in heritable retinoblastoma survivors: A report from the German reference center.
Pediatr Blood Cancer
; 64(1): 71-80, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27567086
7.
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Am J Hum Genet
; 90(2): 369-77, 2012 Feb 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-22305528
8.
Pediatric second primary malignancies after retinoblastoma treatment.
Pediatr Blood Cancer
; 62(10): 1799-804, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25970657
9.
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Genet Med
; 16(9): 720-4, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24603435
10.
Genetic testing in Tunisian families with heritable retinoblastoma using a low cost approach permits accurate risk prediction in relatives and reveals incomplete penetrance in adults.
Exp Eye Res
; 124: 48-55, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24810223
11.
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome.
Fam Cancer
; 22(2): 193-202, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35920959
12.
Release of Cell-Free Tumor DNA in the Plasma of Uveal Melanoma Patients Under Radiotherapy.
Invest Ophthalmol Vis Sci
; 64(13): 35, 2023 10 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-37862025
13.
Retinoblastoma tumorigenesis: genetic and epigenetic changes walk hand in hand.
Future Oncol
; 8(5): 525-8, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22646767
14.
Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
Eur J Pediatr
; 171(11): 1611-8, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22729243
15.
Loss at chromosome arm 16q in retinoblastoma: confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted region.
Genes Chromosomes Cancer
; 50(5): 327-37, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21305643
16.
EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation.
BMC Cancer
; 11: 380, 2011 Aug 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-21871071
17.
Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma.
Cancers (Basel)
; 13(7)2021 Mar 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-33807189
18.
Early detection of metastatic uveal melanoma by the analysis of tumor-specific mutations in cell-free plasma DNA.
Cancer Med
; 10(17): 5974-5982, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34291585
19.
Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria.
Cancers (Basel)
; 13(8)2021 Apr 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-33919815
20.
The impact of RB1 genotype on incidence of second tumours in heritable retinoblastoma.
Eur J Cancer
; 133: 47-55, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32434110