An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
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E. Haan | D. Baralle | D. Evans | C. Lázaro | S. Huson | N. Thomas | N. Chuzhanova | B. Kerr | L. Messiaen | M. Upadhyaya | Hua Li | D. Viskochil | V. Riccardi | D. Stevenson | L. Side | A. Barnicoat | P. Turnpenny | M. Pierpont | D. Adams | E. Howard | E. Haan | S. Giovannini | J. Van Biervliet | Darius J. Adams | R. Hachen | C. Consoli | S. Griffiths | H. Li | P. Wallace | M. Davies | N. Thomas | D. Evans | J. V. Biervliet | D. Evans | D. Evans | D. Evans
[1] G. Mortier,et al. Comprehensive NF1 screening on cultured Schwann cells from neurofibromas , 2006, Human mutation.
[2] C. Stewart,et al. The laminopathies: the functional architecture of the nucleus and its contribution to disease. , 2006, Annual review of genomics and human genetics.
[3] S. Huson,et al. The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs) , 2006, Human mutation.
[4] S. Adam,et al. Nuclear lamins, diseases and aging. , 2006, Current opinion in cell biology.
[5] H. Kehrer-Sawatzki,et al. Spectrum of single‐ and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients , 2006, Genes, chromosomes & cancer.
[6] B. Neel,et al. Stops along the RAS pathway in human genetic disease , 2006, Nature Medicine.
[7] D. Stevenson,et al. Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype , 2006, Clinical genetics.
[8] I. D'Angelo,et al. A novel bipartite phospholipid‐binding module in the neurofibromatosis type 1 protein , 2006, EMBO reports.
[9] A. Battaglia,et al. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. , 2005, American journal of human genetics.
[10] Michael Krawczak,et al. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity , 2005, Human mutation.
[11] D. Horn,et al. Childhood overgrowth in patients with common NF1 microdeletions , 2005, European Journal of Human Genetics.
[12] L. Messiaen,et al. Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1. , 2005, Journal of medical genetics.
[13] A. Krainer,et al. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1 , 2004, Human mutation.
[14] P. Tarpey,et al. Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain , 2004, Journal of Medical Genetics.
[15] D. Gutmann,et al. Recent advances in neurofibromatosis type 1 , 2004, Current opinion in neurology.
[16] Christopher Potts,et al. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors , 2004, Human mutation.
[17] R. Tenconi,et al. Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2 , 2004, Journal of Medical Genetics.
[18] L. Kluwe,et al. Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors , 2003, Human mutation.
[19] D. Cooper,et al. Evaluation of genotype-phenotype correlations in neurofibromatosis type 1 , 2003, Journal of medical genetics.
[20] Jinhua Wang,et al. ESEfinder: a web resource to identify exonic splicing enhancers , 2003, Nucleic Acids Res..
[21] X. Estivill,et al. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients , 2003, Journal of medical genetics.
[22] D. Baralle,et al. Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS) , 2003, American journal of medical genetics. Part A.
[23] S. Pilotti,et al. Elevated risk for MPNST in NF1 microdeletion patients. , 2003, American journal of human genetics.
[24] D. Cooper,et al. Meta‐analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity , 2003, Human mutation.
[25] J. Friedman,et al. Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1) , 2002, Genetic epidemiology.
[26] D. Burns,et al. Neurofibromas in NF1: Schwann Cell Origin and Role of Tumor Environment , 2002, Science.
[27] M. Dorschner,et al. Recombination hotspot in NF1 microdeletion patients. , 2001, Human molecular genetics.
[28] T. Jacks,et al. NF1 Tumor Suppressor Gene Function Narrowing the GAP , 2001, Cell.
[29] X. Estivill,et al. Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. , 2000, Human molecular genetics.
[30] J. Friedman,et al. Growth in North American white children with neurofibromatosis 1 (NF1) , 2000, Journal of medical genetics.
[31] C. Romano,et al. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. , 2000, American journal of medical genetics.
[32] G Mortier,et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects , 2000, Human mutation.
[33] J. Szudek,et al. Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children , 2000, Pediatrics.
[34] P. Nürnberg,et al. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. , 2000, American journal of human genetics.
[35] X. Estivill,et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. , 2000, Human molecular genetics.
[36] Vladimir D. Gusev,et al. On the complexity measures of genetic sequences , 1999, Bioinform..
[37] V. Mautner,et al. Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety , 1999, Neuroradiology.
[38] R. Hughes. Neurofibromatosis type 1 from genotype to phenotype: M. Upadhyaya and D. N. Cooper BIOS Scientific Publishers (230 pages), ISBN 1-859-961 91-6, £67.50, Hardback , 1999, Human Genetics.
[39] R. Lehmann,et al. Two independent mutations in a family with neurofibromatosis type 1 (NF1). , 1999, American journal of medical genetics.
[40] Y. Shim. Gene Structure and Function , 1998 .
[41] D. Grobbee,et al. Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital. , 1998, Journal of medical genetics.
[42] A. Dachman,et al. CT imaging in adults with neurofibromatosis‐1 , 1998, Neurology.
[43] D. Cooper,et al. Neurofibromatosis Type 1:: From Genotype to Phenotype , 1998 .
[44] D. Cooper,et al. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay , 1998, Human Genetics.
[45] J. Carey,et al. Neurofibromatosis-Noonan syndrome. , 1998, American journal of medical genetics.
[46] M. Weaver,et al. Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata. , 1997, American journal of medical genetics.
[47] J. Tonsgard,et al. Do NF1 gene deletions result in a characteristic phenotype? , 1997, American journal of medical genetics.
[48] A. Crawford,et al. Thoracic tumors in children with neurofibromatosis-1. , 1997, American journal of medical genetics.
[49] J. Friedman,et al. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. , 1997, American journal of medical genetics.
[50] M. Pöyhönen,et al. Hereditary spinal neurofibromatosis: a rare form of NF1? , 1997, Journal of medical genetics.
[51] David Haussler,et al. Improved splice site detection in Genie , 1997, RECOMB '97.
[52] W. Kabsch,et al. Crystal structure of the GTPase-activating domain of human p120GAP and implications for the interaction with Ras , 1996, Nature.
[53] D. Cooper,et al. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene , 1996, Human Genetics.
[54] Peter G. Korning,et al. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. , 1996, Nucleic acids research.
[55] H. Saya,et al. Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP‐dependent protein kinase , 1996, FEBS letters.
[56] D. Evans,et al. Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis , 1996, Clinical genetics.
[57] B. Korf,et al. Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations. , 1995, American journal of medical genetics.
[58] D. Abeliovich,et al. Familial café au lait spots: a variant of neurofibromatosis type 1. , 1995, Journal of medical genetics.
[59] W. Burke,et al. Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. , 1994, American journal of human genetics.
[60] P. Harper,et al. Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels. , 1993, Human molecular genetics.
[61] D. Easton,et al. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. , 1993, American journal of human genetics.
[62] M. Tassabehji,et al. Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. , 1993, American journal of human genetics.
[63] H. Brunner,et al. Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots. , 1993, American journal of medical genetics.
[64] D. Lilley. Understanding DNA: The molecule and how it works , 1993 .
[65] J. Charrow,et al. Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage. , 1993, American journal of medical genetics.
[66] J. Farnham,et al. Analysis of mutations at the neurofibromatosis 1 (NF1) locus. , 1992, Human molecular genetics.
[67] B. Cohen. Neurofibromatosis: Phenotype, Natural History, and Pathogenesis, 2nd Ed. , 1992 .
[68] V. Riccardi,et al. Neurofibromatosis: Phenotype, Natural History and Pathogenesis , 1992 .
[69] F. Collins,et al. Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients , 1992, Nature.
[70] M. Boguski,et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. , 1991, Genomics.
[71] J. Allanson,et al. Watson syndrome: is it a subtype of type 1 neurofibromatosis? , 1991, Journal of medical genetics.
[72] P. O’Connell,et al. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21 , 1990, Cell.
[73] S. Huson,et al. Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales , 1988 .
[74] Taylor,et al. Model for the participation of quasi-palindromic DNA sequences in frameshift mutation. , 1982, Proceedings of the National Academy of Sciences of the United States of America.
[75] V. M. Riccardi,et al. Von Recklinghausen neurofibromatosis. , 1981, The New England journal of medicine.
[76] M. Upadhyaya,et al. Molecular diagnosis of neurofibromatosis type 1: 2 years experience , 2006, Familial Cancer.
[77] K. Khosrotehrani,et al. Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients , 2005, American journal of medical genetics. Part A.
[78] D. Cooper,et al. Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1 , 2002, Human Genetics.
[79] J M Friedman,et al. NF1 gene and neurofibromatosis 1. , 2000, American journal of epidemiology.
[80] M. Weaver,et al. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. , 2000, Human molecular genetics.
[81] B. R. Korf,et al. Plexiform neurofibromas. , 1999, American journal of medical genetics.
[82] D. Cooper,et al. The mutational spectrum in neurofibromatosis type 1 and its underlying mechanisms , 1998 .
[83] C. V. van Asperen,et al. Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype‐phenotype correlations in neurofibromatosis type 1? , 1997, Human mutation.
[84] C. Calladine,et al. Understanding DNA: The Molecule & How It Works , 1992 .
[85] S. Huson. Clinical and genetic studies of von Recklinghausen neurofibromatosis. , 1989 .
[86] M. Inouye,et al. Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday. , 1966, Cold Spring Harbor symposia on quantitative biology.
[87] D. Grobbee,et al. Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF 1 in children A 6 years and clinically suspected of having NF1 , 2022 .