Found: 71
Select item for more details and to access through your institution.
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
- Published in:
- Human Genetics, 2023, v. 142, n. 7, p. 849, doi. 10.1007/s00439-023-02555-z
- By:
- Publication type:
- Article
Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G.
- Published in:
- Disease Markers, 1999, v. 15, n. 1-3, p. 69, doi. 10.1155/1999/241046
- By:
- Publication type:
- Article
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1091, doi. 10.1002/ajmg.a.61125
- By:
- Publication type:
- Article
From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1098, doi. 10.1002/ajmg.a.61112
- By:
- Publication type:
- Article
Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 647, doi. 10.1002/ajmg.a.38058
- By:
- Publication type:
- Article
Report of a Patient with a Constitutional Missense Mutation in SMARCB1, Coffin-Siris Phenotype, and Schwannomatosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3186, doi. 10.1002/ajmg.a.37356
- By:
- Publication type:
- Article
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1741, doi. 10.1002/ajmg.a.37089
- By:
- Publication type:
- Article
Sex-discordant monochorionic twins with blood and tissue chimerism.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 872, doi. 10.1002/ajmg.a.37022
- By:
- Publication type:
- Article
Update from the 2013 international neurofibromatosis conference.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 2969, doi. 10.1002/ajmg.a.36754
- By:
- Publication type:
- Article
Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2105, doi. 10.1002/ajmg.a.36031
- By:
- Publication type:
- Article
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
- Published in:
- 2013
- By:
- Publication type:
- Other
Café-au-lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1195, doi. 10.1002/ajmg.a.35297
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Cloning and Characterization of Human WDR10, a Novel Gene Located at 3q21 Encoding a WD-Repeat Protein That Is Highly Expressed in Pituitary and Testis.
- Published in:
- DNA & Cell Biology, 2001, v. 20, n. 1, p. 41, doi. 10.1089/10445490150504684
- By:
- Publication type:
- Article
Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0129216
- By:
- Publication type:
- Article
Prognostic Significance and Gene Expression Profiles of p53 Mutations in Microsatellite-Stable Stage III Colorectal Adenocarcinomas.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0030020
- By:
- Publication type:
- Article
Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?
- Published in:
- Archives of Dermatological Research, 2006, v. 297, n. 10, p. 439, doi. 10.1007/s00403-006-0644-6
- 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
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
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.
- Published in:
- Human Genetics, 2004, v. 114, n. 3, p. 284, doi. 10.1007/s00439-003-1047-9
- By:
- Publication type:
- Article
Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 188, doi. 10.1007/s00439-003-0955-z
- By:
- Publication type:
- Article
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 51, doi. 10.1007/s004390000440
- By:
- Publication type:
- Article
Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene.
- Published in:
- Oncogene, 2002, v. 21, n. 26, p. 4171, doi. 10.1038/sj.onc.1205520
- By:
- Publication type:
- Article
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 618, doi. 10.1038/ejhg.2011.275
- By:
- Publication type:
- Article
Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 52, doi. 10.1038/sj.ejhg.5201281
- By:
- Publication type:
- Article
Hypomagnesemia due to two novel TRPM6 mutations.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 11/12, p. 1373, doi. 10.1515/jpem-2014-0394
- By:
- Publication type:
- Article
Complex splicing pattern generates great diversity in human NF1 transcripts.
- Published in:
- BMC Genomics, 2002, v. 3, p. 1
- By:
- Publication type:
- Article
Quantification of splice variants using real-time PCR.
- Published in:
- Nucleic Acids Research, 2001, v. 29, n. 13, p. e68, doi. 10.1093/nar/29.13.e68
- By:
- Publication type:
- Article
Error in a Study of the Clinical and Mutational Spectrum of Neurofibromatosis Type 1-like Syndrome.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Clinical and Mutational Spectrum of Neurofibromatosis Type 1--like Syndrome.
- Published in:
- JAMA: Journal of the American Medical Association, 2009, v. 302, n. 19, p. 2111, doi. 10.1001/jama.2009.1663
- By:
- Publication type:
- Article
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.
- Published in:
- Genome Biology, 2014, v. 15, n. 6, p. 1, doi. 10.1186/gb-2014-15-6-r80
- By:
- Publication type:
- Article
Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the Melanocytes.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Neurofibromatosis Type 1 Protein and Amyloid Precursor Protein Interact in Normal Human Melanocytes and Colocalize with Melanosomes.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 3, p. 653, doi. 10.1038/sj.jid.5700087
- By:
- Publication type:
- Article
Arg–Cys Substitution at Codon 1246 of the Human Myosin Va Gene is not Associated with Griscelli Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 114, n. 4, p. 731, doi. 10.1046/j.1523-1747.2000.00933.x
- 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
Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3518, doi. 10.1093/hmg/ddv103
- By:
- Publication type:
- Article
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.
- Published in:
- Genes, Chromosomes & Cancer, 2018, v. 57, n. 1, p. 19, doi. 10.1002/gcc.22503
- By:
- Publication type:
- Article
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.
- Published in:
- Genes, Chromosomes & Cancer, 2012, v. 51, n. 9, p. 819, doi. 10.1002/gcc.21966
- By:
- 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
- By:
- Publication type:
- Article
Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.
- Published in:
- Genes, Chromosomes & Cancer, 2003, v. 37, n. 3, p. 314, doi. 10.1002/gcc.10221
- By:
- Publication type:
- Article
Neurofibromatosis 2011: a report of the Children's Tumor Foundation Annual Meeting.
- Published in:
- 2012
- By:
- Publication type:
- Report
Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1.
- Published in:
- Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0163-y
- By:
- Publication type:
- Article
Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure.
- Published in:
- 1996
- By:
- Publication type:
- journal article
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1352, doi. 10.1002/ajmg.a.33894
- By:
- Publication type:
- Article
The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 11, p. 1, doi. 10.1371/journal.pgen.1002371
- By:
- Publication type:
- Article
Re‐evaluation of missense variant classifications in NF2.
- Published in:
- Human Mutation, 2022, v. 43, n. 5, p. 643, doi. 10.1002/humu.24370
- By:
- Publication type:
- Article
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 74, doi. 10.1002/humu.24294
- By:
- Publication type:
- Article
AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides.
- Published in:
- Human Mutation, 2020, v. 41, n. 6, p. 1145, doi. 10.1002/humu.24005
- By:
- Publication type:
- Article
panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 889, doi. 10.1002/humu.23237
- By:
- Publication type:
- Article