Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.

[1]  H. Kehrer-Sawatzki,et al.  High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. , 2004, American journal of human genetics.

[2]  J. Lupski,et al.  Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. , 2004, American journal of human genetics.

[3]  R. Tenconi,et al.  Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions , 2004, Human Genetics.

[4]  P. Huppke,et al.  Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome , 2004, Human mutation.

[5]  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.

[6]  H. Kehrer-Sawatzki,et al.  Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region , 2003, Journal of medical genetics.

[7]  Michael Krawczak,et al.  Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination‐associated motifs , 2003, Human mutation.

[8]  P. Nurnberg,et al.  High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis , 2003, Journal of medical genetics.

[9]  I. Bièche,et al.  Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast‐ovarian cancer family , 2003, Human mutation.

[10]  S. Pilotti,et al.  Elevated risk for MPNST in NF1 microdeletion patients. , 2003, American journal of human genetics.

[11]  L. Shaffer,et al.  Genome architecture catalyzes nonrecurrent chromosomal rearrangements. , 2003, American journal of human genetics.

[12]  T. Shaikh,et al.  The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats. , 2003, American journal of human genetics.

[13]  M. Nachman,et al.  Variation in recombination rate across the genome: evidence and implications. , 2002, Current opinion in genetics & development.

[14]  L. Shaffer,et al.  Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. , 2002, American journal of human genetics.

[15]  F. Vidal,et al.  First Molecular Characterization of an Unequal Homologous Alu-mediated Recombination Event Responsible for Hemophilia , 2002, Thrombosis and Haemostasis.

[16]  E. Remold-O’Donnell,et al.  An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome , 2002, Human Genetics.

[17]  A. Bentivegna,et al.  Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region , 2002, Human Genetics.

[18]  M. Vidaud,et al.  Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) gene , 2001, Human mutation.

[19]  J. Ortenberg,et al.  Genotype analysis of the NF1 gene in the French Canadians from the Québec population. , 2001, American journal of medical genetics.

[20]  H. Hameister,et al.  Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. , 2001, American journal of human genetics.

[21]  M. Dorschner,et al.  Recombination hotspot in NF1 microdeletion patients. , 2001, Human molecular genetics.

[22]  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.

[23]  T. Fojo,et al.  Alu‐associated interstitial deletions and chromosomal re‐arrangement in 2 human multidrug‐resistant cell lines , 2000, International journal of cancer.

[24]  R. Tenconi,et al.  Neurofibromatosis type 1 growth charts. , 1999, American journal of medical genetics.

[25]  F. Speleman,et al.  Analysis of 1;17 translocation breakpoints in neuroblastoma: implications for mapping of neuroblastoma genes. , 1997, European journal of cancer.

[26]  R. Fodde,et al.  The involvement of Alu repeats in recombination events at the α-globin gene cluster: characterization of two α°-thalassaemia deletion breakpoints , 1997, Human Genetics.

[27]  J. Chae,et al.  Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia , 1997, Human Genetics.

[28]  H. Kehrer-Sawatzki,et al.  The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions , 1997, Human Genetics.

[29]  L. Kearney,et al.  Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. , 1996, Human molecular genetics.

[30]  X. Estivill,et al.  Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. , 1995, American journal of human genetics.

[31]  R. Fahsold,et al.  Familial reciprocal translocation t(17;19) (q11.2;q13.2) associated with neurofibromatosis type 1, including one patient with non-Hodgkin lymphoma and an additional t(14;20) in B lymphocytes , 1995, Human Genetics.

[32]  R. Heim,et al.  Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. , 1995, Human molecular genetics.

[33]  N. Gregersen,et al.  One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. , 1995, Nucleic acids research.

[34]  D. Ward,et al.  Structural analysis of alpha-satellite DNA and centromere proteins using extended chromatin and chromosomes. , 1994, Human molecular genetics.

[35]  M. Botto,et al.  Homozygous hereditary C3 deficiency due to a partial gene deletion. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[36]  Thomas W. Glover,et al.  A de novo Alu insertion results in neurofibromatosis type 1 , 1991, Nature.

[37]  P. O'Connell,et al.  Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus , 1990, Cell.

[38]  R. Tenconi,et al.  NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. , 2000, American journal of human genetics.

[39]  M. Weaver,et al.  NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. , 2000, Human molecular genetics.

[40]  L. Larizza,et al.  A rapid and simple method for the generation of locus-specific probes for fish analysis , 1999 .