Allen, 1992, Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation, Am J Hum Genet, 51, 1229
Ballabio, 1989, Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome, Proc Natl Acad Sci USA, 86, 10001, 10.1073/pnas.86.24.10001
Belmont, 1996, Genetic control of X inactivation and processes leading to X-inactivation skewing, Am J Hum Genet, 58, 1101
Brook, 1977, Height correlations between parents and mature offspring in normal subjects and in subjects with Turner's and Klinefelter's and other syndromes, Ann Hum Biol, 4, 17, 10.1080/03014467700001911
Burgoyne, 1985, Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women, J Reprod Fertil, 75, 633, 10.1530/jrf.0.0750633
Epstein, 1988, Mechanisms leading to the phenotype of Turner syndrome, 13
Epstein, 1991, Protocols to establish genotype-phenotype correlations in Down syndrome, Am J Hum Genet, 49, 207
Ferguson-Smith, 1965, Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations, J Med Genet, 2, 142, 10.1136/jmg.2.2.142
Fraccaro, 1977, Women heterozygous for deficiency of the (p21-pter) region of the X chromosome are fertile, Hum Genet, 39, 283, 10.1007/BF00295421
Fryns, 1981, The various phenotypes in Xp deletion: observations in eleven patients, Hum Genet, 57, 385, 10.1007/BF00281690
Gilbert, 1995, Establishment of permanent cell lines by Epstein-Barr virus transformation, Vol 2, A.3.H.1
Goldman, 1982, Clinical and cytogenetic aspects of X-chromosome deletions, Clin Genet, 21, 36, 10.1111/j.1399-0004.1982.tb02077.x
Hamill, 1979, Physical growth: National Center for Health Statistics percentiles, Am J Clin Nutr, 32, 607, 10.1093/ajcn/32.3.607
Jacobs, 1990, A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome, Ann Hum Genet, 54, 209, 10.1111/j.1469-1809.1990.tb00379.x
Kalousek, 1979, Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature, J Pediatr, 94, 891, 10.1016/S0022-3476(79)80208-5
Korenberg, 1994, Down syndrome phenotypes: the consequences of chromosomal imbalance, Proc Natl Acad Sci USA, 91, 4997, 10.1073/pnas.91.11.4997
Krauss, 1987, Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome, N Engl J Med, 317, 125, 10.1056/NEJM198707163170301
Lahn, 1997, Functional coherence of the human Y chromosome, Science, 278, 675, 10.1126/science.278.5338.675
Lander, 1994, Genetic dissection of complex traits, Science, 265, 2037, 10.1126/science.8091226
Lippe, 1991, Turner syndrome, Endocrinol Metab Clin North Am, 20, 121, 10.1016/S0889-8529(18)30284-6
Luoh, 1997, Zfx mutation results in small animal size and reduced germ cell number in male and female mice, Development, 124, 2275, 10.1242/dev.124.11.2275
Lyon, 1961, Gene action in the X-chromosome of the mouse (Mus musculus L.), Nature, 190, 372, 10.1038/190372a0
Massa, 1992, Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome, Eur J Pediatr, 151, 893, 10.1007/BF01954124
Mathur, 1991, The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype, Am J Hum Genet, 48, 682
Migeon, 1998, Non-random X chromosome inactivation in mammalian cells, Cytogenet Cell Genet, 80, 142, 10.1159/000014971
Miyabara, 1997, Developmental analysis of cardiovascular system of 45,X fetuses with cystic hygroma, Am J Med Genet, 68, 135, 10.1002/(SICI)1096-8628(19970120)68:2<135::AID-AJMG3>3.0.CO;2-O
Miyabara, 1989, Significance of cardiovascular malformations in cystic hygroma: a new interpretation of the pathogenesis, Am J Med Genet, 34, 489, 10.1002/ajmg.1320340408
Nelson, 1995, Report of the Sixth International Workshop on X Chromosome Mapping 1995, Cytogenet Cell Genet, 71, 308
Ogata, 1992, Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region, J Med Genet, 29, 455
Ogata, 1995, Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features, Hum Genet, 95, 607, 10.1007/BF00209476
Ogata, 1992, Chromosomal localisation of a pseudoautosomal growth gene(s), J Med Genet, 29, 624, 10.1136/jmg.29.9.624
Page, 1987, The sex-determining region of the human Y chromosome encodes a finger protein, Cell, 51, 1091, 10.1016/0092-8674(87)90595-2
Rao, 1997, Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome, Nat Genet, 16, 54, 10.1038/ng0597-54
Rappold, 1993, The pseudoautosomal regions of the human sex chromosomes, Hum Genet, 92, 315, 10.1007/BF01247327
Schaefer, 1993, A high resolution deletion map of human chromosome Xp22, Nat Genet, 4, 272, 10.1038/ng0793-272
Simpson, 1988, Localizing ovarian determinants through phenotypic-karyotypic deductions, 65
Skuse, 1997, Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function, Nature, 387, 705, 10.1038/42706
Speed, 1986, Oocyte development in XO foetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival, Chromosoma, 94, 115, 10.1007/BF00286989
Sybert, 1995, The adult patient with Turner syndrome, 205
Tanner, 1970, Standards for children's height at ages 2-9 years allowing for height of parents, Arch Dis Child, 45, 755, 10.1136/adc.45.244.755
Temtamy, 1992, Karyotype/phenotype correlation in females with short stature, Clin Genet, 41, 147, 10.1111/j.1399-0004.1992.tb03652.x
Wolff, 1996, Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation, Am J Hum Genet, 58, 154
Zehetner, 1994, The Reference Library System—sharing biological material and experimental data, Nature, 367, 489, 10.1038/367489a0
Zinn, 1993, Turner syndrome—the case of the missing sex chromosome, Trends Genet, 9, 90, 10.1016/0168-9525(93)90230-F