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Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
- Published in:
- NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00603-z
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- Publication type:
- Article
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).
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- Cancers, 2024, v. 16, n. 5, p. 953, doi. 10.3390/cancers16050953
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- Publication type:
- Article
Gonadal and gonadosomatic mosaicism in NF1: report of two families.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 3, p. 426, doi. 10.1111/ddg.15302
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- Publication type:
- Article
Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosaik: ein Bericht über zwei Familien: Gonadal and gonadosomatic mosaicism in NF1: report of two families.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 3, p. 426, doi. 10.1111/ddg.15302_g
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- Publication type:
- Article
Capillary malformations in a child caused by a novel HRAS mutation.
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- Pediatric Dermatology, 2024, v. 41, n. 2, p. 289, doi. 10.1111/pde.15458
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- Publication type:
- Article
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families.
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- European Journal of Endocrinology, 2023, v. 189, n. 3, p. 402, doi. 10.1093/ejendo/lvad126
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- Publication type:
- Article
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
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- Human Reproduction, 2023, v. 38, n. 3, p. 511, doi. 10.1093/humrep/deac273
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- Publication type:
- Article
Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 4036, doi. 10.3390/ijms23074036
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- Publication type:
- Article
An update on congenital melanocytic nevus syndrome: A case report and literature review.
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- Journal of Cutaneous Pathology, 2021, v. 48, n. 12, p. 1497, doi. 10.1111/cup.14097
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- Publication type:
- Article
Multitumor Case Series of Germline BRCA1, BRCA2 and CHEK2-Mutated Patients Responding Favorably on Immune Checkpoint Inhibitors.
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- Current Oncology, 2021, v. 28, n. 5, p. 3227, doi. 10.3390/curroncol28050280
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- Publication type:
- Article
MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders.
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- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00458-2
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- Publication type:
- Article
Impaired instrumental learning in Spred1<sup>−/−</sup> mice, a model for a rare RASopathy.
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- Genes, Brain & Behavior, 2021, v. 20, n. 5, p. 1, doi. 10.1111/gbb.12727
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- Publication type:
- Article
Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumor.
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- Genes, Chromosomes & Cancer, 2021, v. 60, n. 4, p. 239, doi. 10.1002/gcc.22923
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- Publication type:
- Article
A PATIENT WITH NEONATAL CHOLESTASIS.
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- Journal of Mother & Child, 2020, v. 24, n. 4, p. 31, doi. 10.34763/jmotherandchild.20202404.d-20-00012
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- Publication type:
- Article
Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism.
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- Child's Nervous System, 2020, v. 36, n. 10, p. 2285, doi. 10.1007/s00381-020-04771-8
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- Publication type:
- Article
Keratinocytic epidermal nevi associated with localized fibro‐osseous lesions without hypophosphatemia.
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- Pediatric Dermatology, 2020, v. 37, n. 5, p. 890, doi. 10.1111/pde.14254
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- Publication type:
- Article
Congenital enlargement of toes.
- Published in:
- Pediatric Dermatology, 2020, v. 37, n. 5, p. 945, doi. 10.1111/pde.14309
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- Publication type:
- Article
Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules.
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- Clinical Genetics, 2020, v. 97, n. 2, p. 264, doi. 10.1111/cge.13649
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- Publication type:
- Article
NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation.
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- Acta Neuropathologica, 2020, v. 139, n. 1, p. 157, doi. 10.1007/s00401-019-02086-w
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- Publication type:
- Article
Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site.
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- Human Mutation, 2019, v. 40, n. 10, p. 1760, doi. 10.1002/humu.23783
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- Publication type:
- Article
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1–associated atypical neurofibromas.
- Published in:
- Neuro-Oncology, 2019, v. 21, n. 8, p. 981, doi. 10.1093/neuonc/noz028
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- Publication type:
- Article
The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors.
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- Neuro-Oncology, 2018, v. 20, n. 6, p. 818, doi. 10.1093/neuonc/noy013
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- Publication type:
- Article
Phosphatidylinositol‐4,5‐bisphosphate 3‐kinase catalytic subunit alpha (PIK3CA)‐related overgrowth spectrum: A brief report.
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- Pediatric Dermatology, 2018, v. 35, n. 3, p. e186, doi. 10.1111/pde.13441
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- Publication type:
- Article
Erratum to: Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.
- Published in:
- 2017
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- Publication type:
- journal article
Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.
- Published in:
- 2016
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- Publication type:
- journal article
Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation.
- Published in:
- 2015
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- Publication type:
- Case Study
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.
- Published in:
- Nature, 2014, v. 514, n. 7521, p. 247, doi. 10.1038/nature13561
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- Publication type:
- Article
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.
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- Genome Biology, 2014, v. 15, n. 6, p. 1, doi. 10.1186/gb-2014-15-6-r80
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- Publication type:
- Article
Legius Syndrome, an Update. Molecular Pathology of Mutations in SPRED1.
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- Keio Journal of Medicine, 2013, v. 62, n. 4, p. 107, doi. 10.2302/kjm.2013-0002-RE
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- Publication type:
- Article
Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a <i>Drosophila</i> Model for Intellectual Disability.
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- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0081791
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- Publication type:
- Article
EPCAM germline and somatic rearrangements in lynch syndrome: identification of a novel 3′ EPCAM deletion.
- Published in:
- Genes, Chromosomes & Cancer, 2013, v. 52, n. 9, p. 845, doi. 10.1002/gcc.22080
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- Publication type:
- Article
Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.
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- Genes, Chromosomes & Cancer, 2013, v. 52, n. 7, p. 656, doi. 10.1002/gcc.22061
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- Publication type:
- Article
Review and update of SPRED1 mutations causing legius syndrome.
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- Human Mutation, 2012, v. 33, n. 11, p. 1538, doi. 10.1002/humu.22152
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- Publication type:
- Article
Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma.
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- Genes, Chromosomes & Cancer, 2012, v. 51, n. 9, p. 852, doi. 10.1002/gcc.21969
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- Publication type:
- Article
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 618, doi. 10.1038/ejhg.2011.275
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- Publication type:
- Article
Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.
- Published in:
- Genes, Chromosomes & Cancer, 2012, v. 51, n. 5, p. 429, doi. 10.1002/gcc.21928
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- Publication type:
- Article
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.
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- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 411, doi. 10.1038/ejhg.2011.207
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- Publication type:
- Article
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors.
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- Genes, Chromosomes & Cancer, 2011, v. 50, n. 12, p. 1021, doi. 10.1002/gcc.20921
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- Publication type:
- Article
Legius syndrome in fourteen families.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. E1985, doi. 10.1002/humu.21404
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- Publication type:
- Article
Clinical and Mutational Spectrum of Neurofibromatosis Type 1--like Syndrome.
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- JAMA: Journal of the American Medical Association, 2009, v. 302, n. 19, p. 2111, doi. 10.1001/jama.2009.1663
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- Publication type:
- Article
Spred1 Is Required for Synaptic Plasticity and Hippocampus- Dependent Learning.
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- Journal of Neuroscience, 2008, v. 28, n. 53, p. 14443, doi. 10.1523/JNEUROSCI.4698-08.2008
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- Publication type:
- Article
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.
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- European Journal of Human Genetics, 2008, v. 16, n. 5, p. 572, doi. 10.1038/sj.ejhg.5202002
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- Publication type:
- Article
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1120, doi. 10.1038/ng2113
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- Publication type:
- Article
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.
- Published in:
- Nature Genetics, 2006, v. 38, n. 12, p. 1419, doi. 10.1038/ng1920
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- Publication type:
- Article
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non‐microdeletion patients.
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 10, p. 893, doi. 10.1002/gcc.20353
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- Publication type:
- Article
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.
- Published in:
- Human Mutation, 2006, v. 27, n. 10, p. 1030, doi. 10.1002/humu.20389
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- Publication type:
- Article
Recombination hotspot in NF1 microdeletion patients.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 13, p. 1387, doi. 10.1093/hmg/10.13.1387
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- Publication type:
- Article
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 387, doi. 10.1002/(SICI)1098-1004(199911)14:5<387::AID-HUMU4>3.0.CO;2-4
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- Publication type:
- Article