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Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Distinct sequence features underlie microdeletions and gross deletions in the human genome.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 328, doi. 10.1002/humu.24314
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- Publication type:
- Article
Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1226, doi. 10.1002/humu.24022
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- Publication type:
- Article
Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1711, doi. 10.1002/humu.23319
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- Publication type:
- Article
Neurofibromatosis Type 1 Without Neurofibromas: Genotype-Phenotype Correlations in NF1.
- Published in:
- 2015
- By:
- Publication type:
- Other
Identification of Large NF1 Duplications Reciprocal to NAHR-Mediated Type-1 NF1 Deletions.
- Published in:
- Human Mutation, 2014, v. 35, n. 12, p. 1469, doi. 10.1002/humu.22692
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- Publication type:
- Article
Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination.
- Published in:
- Human Mutation, 2014, v. 35, n. 2, p. 215, doi. 10.1002/humu.22473
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- Publication type:
- Article
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1599, doi. 10.1002/humu.22171
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- Publication type:
- Article
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/−) stem cells.
- Published in:
- Human Mutation, 2012, v. 33, n. 3, p. 541, doi. 10.1002/humu.22013
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- Publication type:
- Article
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.
- Published in:
- Human Mutation, 2012, v. 33, n. 2, p. 372, doi. 10.1002/humu.21644
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- Publication type:
- Article
On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1075, doi. 10.1002/humu.21557
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- Publication type:
- Article
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 620, doi. 10.1002/humu.21483
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- Publication type:
- Article
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2134, doi. 10.1002/humu.21476
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- Publication type:
- Article
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 213, doi. 10.1002/humu.21418
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- Publication type:
- Article
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. 78, doi. 10.1002/humu.21387
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- Publication type:
- Article
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1286, doi. 10.1002/humu.21389
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- Publication type:
- Article
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. 1163, doi. 10.1002/humu.21340
- By:
- Publication type:
- Article
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 742, doi. 10.1002/humu.21254
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- Publication type:
- Article
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 631, doi. 10.1002/humu.21260
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- Publication type:
- Article
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 552, doi. 10.1002/humu.21223
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- Publication type:
- Article
Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 325, doi. 10.1002/humu.21191
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- Publication type:
- Article
A gene conversion hotspot in the human growth hormone ( GH1) gene promoter.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 239, doi. 10.1002/humu.20850
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- Publication type:
- Article
Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 99, doi. 10.1002/humu.20420
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- Publication type:
- Article
Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee ( Pan troglodytes).
- Published in:
- Human Mutation, 2005, v. 25, n. 1, p. 45, doi. 10.1002/humu.20116
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- Publication type:
- Article
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
Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages.
- Published in:
- Chromosome Research, 2009, v. 17, n. 6, p. 811
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- Publication type:
- Article
Molecular mechanisms of chromosomal rearrangement during primate evolution.
- Published in:
- Chromosome Research, 2008, v. 16, n. 1, p. 41, doi. 10.1007/s10577-007-1207-1
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- Publication type:
- Article
Clinical characterization of children and adolescents with NF1 microdeletions.
- Published in:
- Child's Nervous System, 2020, v. 36, n. 10, p. 2297, doi. 10.1007/s00381-020-04717-0
- By:
- Publication type:
- Article
SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrome.
- Published in:
- Medizinische Genetik, 2017, v. 29, n. 3, p. 296, doi. 10.1007/s11825-017-0160-4
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- Publication type:
- Article
Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.
- Published in:
- Genes, Chromosomes & Cancer, 2003, v. 37, n. 2, p. 111, doi. 10.1002/gcc.10206
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- Publication type:
- Article
Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution.
- Published in:
- BMC Evolutionary Biology, 2009, v. 9, p. 1, doi. 10.1186/1471-2148-9-84
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- Publication type:
- Article
Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).
- Published in:
- Acta Neuropathologica, 2002, v. 104, n. 3, p. 231, doi. 10.1007/s00401-002-0552-6
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- Publication type:
- Article
Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11)-case report and review of the literature.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 10, p. 954, doi. 10.1002/pd.1252
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- Publication type:
- Article
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1202, doi. 10.1002/ajmg.a.37560
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- Publication type:
- Article
Preface.
- Published in:
- Cytogenetic & Genome Research, 2009, v. 123, n. 1-4, p. 5, doi. 10.1159/000184686
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- Publication type:
- Article
Das NF1‐Mikrodeletions‐Syndrom: Die frühzeitige genetische Diagnose erleichtert den Umgang mit einer klinisch definierten Erkrankung.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 3, p. 273, doi. 10.1111/ddg.14707_g
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- Publication type:
- Article
The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 3, p. 273, doi. 10.1111/ddg.14707
- By:
- Publication type:
- Article
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.
- Published in:
- Human Genetics, 2023, v. 142, n. 2, p. 245, doi. 10.1007/s00439-022-02500-6
- By:
- Publication type:
- Article
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 177, doi. 10.1007/s00439-021-02410-z
- By:
- Publication type:
- Article
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.
- Published in:
- Human Genetics, 2021, v. 140, n. 12, p. 1635, doi. 10.1007/s00439-021-02363-3
- By:
- Publication type:
- Article
Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.
- Published in:
- Human Genetics, 2019, v. 138, n. 1, p. 73, doi. 10.1007/s00439-018-1961-5
- By:
- Publication type:
- Article
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
- Published in:
- Human Genetics, 2018, v. 137, n. 6/7, p. 543, doi. 10.1007/s00439-018-1909-9
- By:
- Publication type:
- Article
Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.
- Published in:
- Human Genetics, 2018, v. 137, n. 6/7, p. 511, doi. 10.1007/s00439-018-1904-1
- By:
- Publication type:
- Article
Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.
- Published in:
- Human Genetics, 2018, v. 137, n. 5, p. 365, doi. 10.1007/s00439-018-1888-x
- By:
- Publication type:
- Article
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
- Published in:
- Human Genetics, 2017, v. 136, n. 4, p. 349, doi. 10.1007/s00439-017-1766-y
- By:
- Publication type:
- Article
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
- Published in:
- Human Genetics, 2017, v. 136, n. 2, p. 129, doi. 10.1007/s00439-016-1753-8
- By:
- Publication type:
- Article
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
- Published in:
- Human Genetics, 2016, v. 135, n. 5, p. 469, doi. 10.1007/s00439-016-1646-x
- By:
- Publication type:
- Article
Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 627, doi. 10.1002/mgg3.412
- By:
- Publication type:
- Article
Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 484, doi. 10.1093/hmg/ddv487
- By:
- Publication type:
- Article