Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

[1]  G. Ommen,et al.  Prenatal diagnosis of Duchenne muscular dystrophy: A three-year experience in a rapidly evolving field , 1989, Journal of Inherited Metabolic Disease.

[2]  M. Claustres,et al.  Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy , 1990, Human Genetics.

[3]  J. C. Houwelingen,et al.  Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis , 1990, Human Genetics.

[4]  G. Danieli,et al.  Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases , 1990, Human Genetics.

[5]  L. Kunkel,et al.  Molecular deletion patterns in Duchenne and Becker type muscular dystrophy , 1989, Human Genetics.

[6]  B. McGillivray,et al.  Germinal mosaicism in Duchenne muscular dystrophy , 1988, Human Genetics.

[7]  A. Monaco,et al.  Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy , 1987, Human Genetics.

[8]  A. Ferlini,et al.  Origin of new mutations in Duchenne muscular dystrophy , 1986, Human Genetics.

[9]  M. Ferguson-Smith,et al.  Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy , 2004, Human Genetics.

[10]  S. Bhattacharya,et al.  Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy , 2004, Acta Neuropathologica.

[11]  T. Cremer,et al.  Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus , 2004, Human Genetics.

[12]  J. C. Houwelingen,et al.  Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis. , 1991, Journal of medical genetics.

[13]  M. Thambyayah,et al.  Prevalence and incidence of Becker muscular dystrophy , 1991, The Lancet.

[14]  D. Bentley,et al.  Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA , 1990, The Lancet.

[15]  M. Passos-Bueno,et al.  Estimate of germinal mosaicism in Duchenne muscular dystrophy. , 1990, Journal of medical genetics.

[16]  T. Grimm,et al.  Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy. , 1990, Journal of medical genetics.

[17]  R. Lebo,et al.  Somatic mosaicism at the Duchenne locus. , 1990, American journal of medical genetics.

[18]  P. Marynen,et al.  Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion , 1990, Clinical genetics.

[19]  M. Ferguson-Smith,et al.  Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes. , 1990, Journal of medical genetics.

[20]  G. Barbujani,et al.  Segregation and sporadic cases of Duchenne muscular dystrophy in the Henan Province, China. , 1990, Human heredity.

[21]  C. Junien,et al.  Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion. , 1989, Journal of medical genetics.

[22]  L. Kunkel,et al.  The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. , 1989, American journal of human genetics.

[23]  C. van Broeckhoven,et al.  Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. , 1989, Journal of medical genetics.

[24]  D. Bulman,et al.  Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene. , 1989, American journal of human genetics.

[25]  K. Davies,et al.  Duchenne muscular dystrophy: the gene and the protein. , 1989, Molecular biology & medicine.

[26]  T. Partridge,et al.  NEW MUTATIONS IN DUCHENNE MUSCULAR DYSTROPHY , 1988, The Lancet.

[27]  J. Hall,et al.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics. , 1988, American journal of human genetics.

[28]  R. Waterston,et al.  Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. , 1988, The New England journal of medicine.

[29]  G. Danieli,et al.  Theoretical expectations for deletional mutations in Duchenne muscular dystrophy. , 1988, American journal of medical genetics.

[30]  A. Roses Mutants in Duchenne muscular dystrophy. Implications for prevention. , 1988, Archives of neurology.

[31]  U. Francke,et al.  Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. , 1988, American journal of human genetics.

[32]  The parental origin of mutations causing Duchenne muscular dystrophy. , 1988, Archives of neurology.

[33]  C. Bertelson,et al.  Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker. , 1987, Genomics.

[34]  J. D. Dunnen,et al.  Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels , 1987, Nature.

[35]  K. Davies,et al.  Preferential deletion of exons in Duchenne and Becker muscular dystrophies , 1987, Nature.

[36]  C. Broeckhoven,et al.  Germline mosaicism and Duchenne muscular dystrophy mutations , 1987, Nature.

[37]  U. Francke,et al.  A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male , 1987, Nature.

[38]  M. Pericak-Vance,et al.  Familial inheritance of a DXS164 deletion mutation from a heterozygous female. , 1987, American journal of human genetics.

[39]  M. Koenig,et al.  Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals , 1987, Cell.

[40]  P. Pearson,et al.  DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure. , 1986, Journal of medical genetics.

[41]  J. Edwards The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy. , 1986, Journal of medical genetics.

[42]  A. Monaco,et al.  Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene , 1986, Nature.

[43]  E. Bakker,et al.  Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination , 1986, Clinical genetics.

[44]  G. T. te Meerman,et al.  On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms. , 1986, American journal of human genetics.

[45]  A. Emery Methodology in medical genetics , 1986 .

[46]  H. Willard,et al.  PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs , 1985, The Lancet.

[47]  A. Roses,et al.  The genetic status of mothers of isolated cases of Duchenne muscular dystrophy. , 1983, Journal of medical genetics.

[48]  M. Pembrey,et al.  Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy? , 1982, American journal of medical genetics.

[49]  V. Ionasescu,et al.  Frequency of new mutants among boys with Duchenne muscular dystrophy. , 1980, American journal of medical genetics.

[50]  A. Emery,et al.  Clinical studies in benign (Becker type) X‐linked muscular dystrophy , 1976, Clinical genetics.

[51]  B. Migeon,et al.  The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. , 1976, American journal of human genetics.

[52]  D. Cramer,et al.  Gonadal mosaicism and genetic counseling for X-linked recessive lethals. , 1974, American journal of human genetics.