相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。NF1 Exon 22 Analysis of Individuals With the Clinical Diagnosis of Neurofibromatosis Type 1
Talia M. Muram-Zborovski et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Monozygotic Twins Discordant for Neurofibromatosis 1
Lee Kaplan et al.
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Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
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Somatic gene mutation and human disease other than cancer: An update
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Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region
Hildegard Kehrer-Sawatzki et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient
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EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Somatic mutation analysis in NF1 cafe au lait spots reveals two NF1 hits in the melanocytes
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Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?
H. Kehrer-Sawatzki et al.
JOURNAL OF MEDICAL GENETICS (2008)
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination
Katharina Steinmann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
A. De Luca et al.
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Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1
Ophelia Maertens et al.
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Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion
Thomas De Raedt et al.
NATURE GENETICS (2006)
Spectrum of single- and multiexon NFI copy number changes in a cohort of 1,100 unselected NFI patients
K Wimmer et al.
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Connective tissue dysplasia in five new patients with NF1 microdeletions:: further expansion of phenotype and review of the literature -: art. no. e8
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Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1
C Consoli et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2005)
Prevalence of neurofibromatosis 1 in German children at elementary school enrollment
M Lammert et al.
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High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
H Kehrer-Sawatzki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion
SH Forbes et al.
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Genomic organization and evolution of the NF1 microdeletion region
T De Raedt et al.
GENOMICS (2004)
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2
M Venturin et al.
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Segmental neurofibromatosis follows Blaschko's lines or dermatomes depending on the cell line affected: Case report and literature review
F Redlick et al.
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Screening 500 unselected neuroflibromatosis 1 patients for deletions of the NF1 gene
L Kluwe et al.
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Segmental neurofibromatosis in childhood
R Listernick et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations
E Petek et al.
JOURNAL OF MEDICAL GENETICS (2003)
Mechanisms and consequences of somatic mosaicism in humans
H Youssoufian et al.
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Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
DE Jenne et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Recombination hotspot in NF1 microdeletion patients
C López-Correa et al.
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Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): No longer neurofibromatosis type 5 (NF5)
M Ruggieri
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
The clinical and diagnostic implications of mosaicism in the neurofibromatoses
M Ruggieri et al.
NEUROLOGY (2001)
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
S Tinschert et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Unequal meiotic crossover:: A frequent cause of NF1 microdeletions
CL Correa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Buccal swabs but not mouthwash samples can be used to obtain pretransplant DNA fingerprints from recipients of allogeneic bone marrow transplants
C Thiede et al.
BONE MARROW TRANSPLANTATION (2000)
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
MO Dorschner et al.
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