Found: 45
Select item for more details and to access through your institution.
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.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 11, p. 1611, doi. 10.1007/s00431-012-1776-7
- By:
- Publication type:
- Article
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
- Published in:
- Brain: A Journal of Neurology, 2022, v. 145, n. 9, p. 3274, doi. 10.1093/brain/awac164
- By:
- Publication type:
- Article
Trilateral Retinoblastoma in a Patient With Peutz- Jeghers Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1096, doi. 10.1002/ajmg.a.35748
- By:
- Publication type:
- Article
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
- Published in:
- Nature Genetics, 2013, v. 45, n. 8, p. 933, doi. 10.1038/ng.2674
- By:
- Publication type:
- Article
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 1, p. 20, doi. 10.1038/ng.724
- By:
- Publication type:
- Article
Imprinting of RB1 (the new kid on the block).
- Published in:
- Briefings in Functional Genomics, 2010, v. 9, n. 4, p. 347, doi. 10.1093/bfgp/elq014
- By:
- Publication type:
- Article
The Origin of the <i>RB1</i> Imprint.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0081502
- By:
- Publication type:
- Article
Human <i>PPP1R26P1</i> Functions as <i>cis</i>-Repressive Element in Mouse <i>Rb1</i>.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074159
- By:
- Publication type:
- Article
Psychosocial impact of prognostic genetic testing in the care of uveal melanoma patients: protocol of a controlled prospective clinical observational study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization.
- Published in:
- Human Genetics, 2001, v. 108, n. 2, p. 98, doi. 10.1007/s004390000450
- By:
- Publication type:
- Article
Loss of heterozygosity of the retinoblastoma (RB1) gene in lipomas from a retinoblastoma patient.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Gains and overexpression identify DEK and E2F3 as targets of chromosome 6p gains in retinoblastoma.
- Published in:
- Oncogene, 2005, v. 24, n. 42, p. 6441, doi. 10.1038/sj.onc.1208792
- By:
- Publication type:
- Article
RB1 -Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation.
- Published in:
- Cancers, 2022, v. 14, n. 9, p. N.PAG, doi. 10.3390/cancers14092166
- By:
- Publication type:
- Article
Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma.
- Published in:
- Cancers, 2021, v. 13, n. 7, p. 1605, doi. 10.3390/cancers13071605
- By:
- Publication type:
- Article
GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma.
- Published in:
- Cancers, 2019, v. 11, n. 7, p. 1031, doi. 10.3390/cancers11071031
- By:
- Publication type:
- Article
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 947, doi. 10.1038/ejhg.2011.58
- By:
- Publication type:
- Article
Clinical utility gene card for: Retinoblastoma.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.200
- By:
- Publication type:
- Article
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 690, doi. 10.1038/sj.ejhg.5200694
- By:
- Publication type:
- Article
13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping.
- Published in:
- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00500-7
- By:
- Publication type:
- Article
Early detection of metastatic uveal melanoma by the analysis of tumor‐specific mutations in cell‐free plasma DNA.
- Published in:
- Cancer Medicine, 2021, v. 10, n. 17, p. 5974, doi. 10.1002/cam4.4153
- By:
- Publication type:
- Article
A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA): analysis of the retinoblastoma locus.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 16, p. e125, doi. 10.1093/nar/gnh122
- By:
- Publication type:
- Article
Detection of homozygous deletions in tumors by hybridization of representational difference analysis (RDA) products to chromosome-specific YAC clone arrays.
- Published in:
- Nucleic Acids Research, 1999, v. 27, n. 21, p. e30, doi. 10.1093/nar/27.21.e30
- By:
- Publication type:
- Article
Deciphering the evolutionary origin of the RB1 imprint.
- Published in:
- 2013
- By:
- Publication type:
- Conference Paper/Materials
Author Correction: A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06596-6
- By:
- Publication type:
- Article
Psychosocial impact of prognostic genetic testing in uveal melanoma patients: a controlled prospective clinical observational study.
- Published in:
- BMC Psychology, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40359-020-0371-3
- By:
- Publication type:
- Article
Loss of heterozygosity of 1p in uveal melanomas with monosomy 3.
- Published in:
- International Journal of Cancer, 2005, v. 116, n. 6, p. 909, doi. 10.1002/ijc.21086
- By:
- Publication type:
- Article
Genomic gains on chromosome 1q in retinoblastoma: Consequences on gene expression and association with clinical manifestation.
- Published in:
- International Journal of Cancer, 2005, v. 116, n. 4, p. 555, doi. 10.1002/ijc.21051
- By:
- Publication type:
- Article
Interdisziplinäre Diagnostik und Therapie von intraokularen Tumoren.
- Published in:
- Deutsches Ärzteblatt International, 2018, v. 115, n. 7, p. 1, doi. 10.3238/arztebl.2018.0106
- By:
- Publication type:
- Article
Comparing efficacy and side effects of two systemic chemotherapy regimens for eye‐preserving therapy in children with retinoblastoma.
- Published in:
- Pediatric Blood & Cancer, 2022, v. 69, n. 2, p. 1, doi. 10.1002/pbc.29362
- By:
- Publication type:
- Article
Retinoblastoma with late metastatic spread-a case report.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Ectopic intracranial retinoblastoma in a 3.5‐month‐old infant without eye involvement and without evidence of heritability.
- Published in:
- Pediatric Blood & Cancer, 2019, v. 66, n. 5, p. N.PAG, doi. 10.1002/pbc.27599
- By:
- Publication type:
- Article
Ectopic intracranial retinoblastoma in a 3.5-month-old infant without eye involvement and without evidence of heritability.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Incidence of second cancers after radiotherapy and systemic chemotherapy in heritable retinoblastoma survivors: A report from the German reference center.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Pediatric second primary malignancies after retinoblastoma treatment.
- Published in:
- Pediatric Blood & Cancer, 2015, v. 62, n. 10, p. 1799, doi. 10.1002/pbc.25576
- By:
- Publication type:
- Article
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome.
- Published in:
- Familial Cancer, 2023, v. 22, n. 2, p. 193, doi. 10.1007/s10689-022-00310-3
- By:
- Publication type:
- Article
Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma.
- Published in:
- Familial Cancer, 2009, v. 8, n. 1, p. 55, doi. 10.1007/s10689-008-9198-4
- By:
- Publication type:
- Article
Loss at chromosome arm 16q in retinoblastoma: Confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted region.
- Published in:
- Genes, Chromosomes & Cancer, 2011, v. 50, n. 5, p. 327, doi. 10.1002/gcc.20857
- By:
- Publication type:
- Article
Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization.
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 43, n. 3, p. 294, doi. 10.1002/gcc.20186
- By:
- Publication type:
- Article
Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 2, p. 243, doi. 10.1007/s00401-019-02101-0
- By:
- Publication type:
- Article
Neurotrophin receptor expression in human primary retinoblastomas and retinoblastoma cell lines.
- Published in:
- Pediatric Blood & Cancer, 2008, v. 50, n. 2, p. 218, doi. 10.1002/pbc.21369
- By:
- Publication type:
- Article
The Human Retinoblastoma Gene Is Imprinted.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 12, p. 1, doi. 10.1371/journal.pgen.1000790
- By:
- Publication type:
- Article
Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.
- Published in:
- Human Mutation, 2008, v. 29, n. 4, p. 475, doi. 10.1002/humu.20664
- By:
- Publication type:
- Article
RB1 gene mutations in retinoblastoma.
- Published in:
- Human Mutation, 1999, v. 14, n. 4, p. 283, doi. 10.1002/(SICI)1098-1004(199910)14:4<283::AID-HUMU2>3.0.CO;2-J
- By:
- Publication type:
- Article
EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation.
- Published in:
- 2011
- By:
- Publication type:
- journal article