Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

[1]  D. Le Paslier,et al.  Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis. , 1995, Journal of medical genetics.

[2]  C. Broeckhoven,et al.  Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene , 1994, Human Genetics.

[3]  K. Silander,et al.  DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP). , 1994, Journal of neurology, neurosurgery, and psychiatry.

[4]  F. Gabreëls,et al.  Prevalence of the 1.5‐Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies , 1994, Annals of neurology.

[5]  C. van Broeckhoven,et al.  Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. , 1994, Journal of medical genetics.

[6]  J. Weber,et al.  Comparison of fluorescence-based semi-automated genotyping of multiple microsatellite loci with autoradiographic techniques. , 1994, Genomics.

[7]  Cécile Fizames,et al.  The 1993–94 Généthon human genetic linkage map , 1994, Nature Genetics.

[8]  C. van Broeckhoven,et al.  Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies , 1994, Annals of neurology.

[9]  S. Sakoda,et al.  Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot‐Marie‐Tooth disease type 1A , 1994, Annals of neurology.

[10]  F. Leblhuber,et al.  A sporadic form of hereditary neuropathy with liability to pressure palsies , 1994, Neurology.

[11]  C. van Broeckhoven,et al.  Peripheral myelin protein‐22 expression in charcot‐marie‐tooth disease type 1a sural nerve biopsies , 1994, Journal of neuroscience research.

[12]  F. Baas,et al.  A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies , 1994, Nature Genetics.

[13]  C. van Broeckhoven,et al.  Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. , 1994, Human molecular genetics.

[14]  E. Mariman,et al.  Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies , 1994, Human Genetics.

[15]  V. Ionasescu,et al.  Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. , 1994, Human molecular genetics.

[16]  J. Lupski,et al.  Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. , 1994, Human molecular genetics.

[17]  K. Fischbeck,et al.  Connexin mutations in X-linked Charcot-Marie-Tooth disease. , 1993, Science.

[18]  F. Baas,et al.  Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A. , 1993, Human molecular genetics.

[19]  C. van Broeckhoven,et al.  Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. , 1993, Human molecular genetics.

[20]  V. Ionasescu,et al.  Screening of dominantly inherited Charcot–Marie–Tooth neuropathies , 1993, Muscle & nerve.

[21]  J. Lupski,et al.  Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. , 1993, American journal of human genetics.

[22]  B. Trask,et al.  Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A , 1993, Nature genetics.

[23]  F. Baas,et al.  Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1B , 1993, Nature Genetics.

[24]  E. Mansfield,et al.  Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by multicolor in situ hybridization. , 1993, American journal of medical genetics.

[25]  K. Hayasaka,et al.  Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. , 1993, Human molecular genetics.

[26]  N. Shimizu,et al.  Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene , 1993, Nature Genetics.

[27]  Y. Fukushima,et al.  Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1. , 1993, Biochemical and biophysical research communications.

[28]  E. Mariman,et al.  Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1 , 1993, Human Genetics.

[29]  D. Le Paslier,et al.  Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome. , 1993, Human molecular genetics.

[30]  J. Lupski,et al.  Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. , 1993, The New England journal of medicine.

[31]  C. Disteche,et al.  DNA deletion associated with hereditary neuropathy with liability to pressure palsies , 1993, Cell.

[32]  A. C. Chinault,et al.  Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit , 1992, Nature Genetics.

[33]  F. Baas,et al.  Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A , 1992, Nature Genetics.

[34]  A. C. Chinault,et al.  A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region. , 1992, Human molecular genetics.

[35]  B. Trask,et al.  The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A , 1992, Nature Genetics.

[36]  D. Housman,et al.  The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A , 1992, Nature Genetics.

[37]  T. Bird,et al.  Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A , 1992, Nature Genetics.

[38]  P. De Jonghe,et al.  The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication , 1992, Nature Genetics.

[39]  F. Baas,et al.  De-novo mutation in hereditary motor and sensory neuropathy type I , 1992, The Lancet.

[40]  C. van Broeckhoven,et al.  Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. , 1992, Journal of medical genetics.

[41]  Aravinda Chakravarti,et al.  DNA duplication associated with Charcot-Marie-Tooth disease type 1A , 1991, Cell.

[42]  J. Vance,et al.  Hereditary motor and sensory neuropathies. , 1991, Journal of medical genetics.

[43]  J. Weber,et al.  Dinucleotide repeat polymorphism at the D15S87 locus. , 1990, Nucleic acids research.

[44]  M. Skolnick,et al.  A genetic map of human chromosome 17p. , 1990, Genomics.

[45]  R. W. Davis,et al.  Separation of large DNA molecules by contour-clamped homogeneous electric fields. , 1986, Science.

[46]  J. Martín,et al.  Hereditary pressure-sensitive neuropathy , 1980, Journal of the Neurological Sciences.

[47]  D. Davies.  Recurrent peripheral nerve palsies in a family. , 1954, Lancet.

[48]  J. Lupski,et al.  A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. , 1995, American journal of human genetics.

[49]  C. Broeckhoven,et al.  Mutation detection and diagnosis using PFGE , 1995 .

[50]  A. Monaco.  Pulsed field gel electrophoresis: a practical approach. , 1995 .

[51]  G. Chazot,et al.  Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP). , 1994, Cytogenetics and cell genetics.

[52]  A. Monaco,et al.  Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) , 1994, Human molecular genetics.

[53]  K. Hayasaka,et al.  New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1. , 1993, Biochemistry and molecular biology international.

[54]  G. Church,et al.  Genomic sequencing. , 1993, Methods in molecular biology.

[55]  C. Broeckhoven,et al.  Estimation of the size of the chromosome 17pll .2 duplication in Charcot-Marie-Tooth neuropathy type la (CMTla) , 2022 .