Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

[1]  F. Cremers,et al.  Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. , 1988, American journal of human genetics.

[2]  M. DePamphilis.  Transcriptional elements as components of eukaryotic origins of DNA replication , 1988, Cell.

[3]  F. Cremers,et al.  Deletion of the DXS165 locus in patients with classical Choroideremia , 1987, Clinical genetics.

[4]  J. Weissenbach,et al.  A sex chromosome rearrangement in a human XX male caused by Alu—Alu recombination , 1987, Cell.

[5]  J. Mandel,et al.  Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome. , 1987, Genomics.

[6]  D. Ledbetter,et al.  Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. , 1987, Proceedings of the National Academy of Sciences of the United States of America.

[7]  A. Chapelle,et al.  Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical‐genealogical evidence , 1987, Clinical genetics.

[8]  R. Nussbaum,et al.  Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. , 1987, American journal of human genetics.

[9]  M. Farrall,et al.  Linkage of an X-chromosome cleft palate gene , 1987, Nature.

[10]  M. Olson,et al.  Electrophoretic separations of large DNA molecules by periodic inversion of the electric field. , 1986, Science.

[11]  S. Patil,et al.  Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. , 1986, The Journal of pediatrics.

[12]  R. White,et al.  The genetic linkage map of the human X chromosome. , 1985, Science.

[13]  R. Nussbaum,et al.  Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. , 1985, American journal of human genetics.

[14]  C. Disteche,et al.  Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. , 1985, American journal of human genetics.

[15]  L. Vejerslev,et al.  Inherited tandem duplication dup(X) (q131‐q212) in a male proband , 1985, Clinical genetics.

[16]  K. Davies,et al.  PRENATAL EXCLUSION OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY BY DIRECT GENE ANALYSIS , 1985, The Lancet.

[17]  J. Aldridge,et al.  A strategy to reveal high-frequency RFLPs along the human X chromosome. , 1984, American journal of human genetics.

[18]  A. Feinberg,et al.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. , 1983, Analytical biochemistry.

[19]  S Ayazi,et al.  Choroideremia, obesity, and congenital deafness. , 1981, American journal of ophthalmology.

[20]  P. Goodfellow,et al.  Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. , 1976, Cytogenetics and cell genetics.

[21]  J. Davey,et al.  Choroideremia; clinical and genetic aspects. , 1952, The British journal of ophthalmology.

[22]  P. J. Waardenburg.  CHORIOIDEREMIE ALS ERBMERKMAL , 1942 .

[23]  C. Julier,et al.  Detection of a NotI polymorphism with the pmetH probe by pulsed-field gel electrophoresis. , 1988, American journal of human genetics.

[24]  M. Mikkelsen.  Sex-Linked Mental Retardation , 1987 .

[25]  C. Lundsteen,et al.  Choroideremia in interstitial deletion of the X chromosome. , 1986, Ophthalmic paediatrics and genetics.

[26]  J. Kärnä.  Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers. , 1986, Acta ophthalmologica. Supplement.

[27]  U. Francke.  Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. , 1984, Cytogenetics and cell genetics.

[28]  H. Hoehn,et al.  Prenatal diagnosis of human genome variation. , 1979, Annual review of genetics.

[29]  C. Mcculloch,et al.  A hereditary and clinical study of choroideremia. , 1948, Transactions - American Academy of Ophthalmology and Otolaryngology. American Academy of Ophthalmology and Otolaryngology.

[30]  J. Goedbloed.  Mode of Inheritance in Chorioideremia , 1942 .