| 1 | SHOX, DCS, GCX, MMDL
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| A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
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| Benito-Sanz S, Thomas NS, Huber C, Del Blanco DG, Aza-Carmona M, Crolla JA, Maloney V, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE.
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| Am J Hum Genet 77(4):533-44. Epub 2005 Aug 15. 2005
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| 2 | GCX, SHOX
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| Familial growth and skeletal features associated with SHOX haploinsufficiency.
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| Munns CF, Glass IA, Flanagan S, Hayes M, Williams B, Berry M, Vickers D, O'Rourke P, Rao E, Rappold GA, Hyland VJ, Batch JA.
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| J Pediatr Endocrinol Metab 16(7):987-96. 2003
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| 3 | DCS, GCX, MMDL, SHOX, XXX
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| SHOX haploinsufficiency and overdosage: impact of gonadal function status.
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| Ogata T, Matsuo N, Nishimura G.
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| J Med Genet 38(1):1-6. 2001
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| 4 | GCX, SHOX, TS, DELXPF
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| Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.
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| Adachi M, Tachibana K, Asakura Y, Muroya K, Ogata T.
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| Hum Genet 106(3):306-10. 2000
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| 5 | GCX, SHOX, TS
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| The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
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| Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA.
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| Hum Mol Genet 9(5):695-702. 2000
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| 6 | GCX
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| Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.
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| Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T.
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| J Clin Endocrinol Metab 84(12):4613-21. 1999
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| 7 | USP9Y, GCX
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| A study of females with deletions of the short arm of the X chromosome.
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| James RS, et al.
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| Hum Genet 102 : 507-516. 1998
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| 8 | GCX, GCY, SHOX
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| Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height.
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| Spranger S, Kirsch S, Mertz A, Schiebel K, Tariverdian G, Rappold GA.
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| Clin Genet 51(5):346-50. 1997
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| 9 | GCX
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| FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.
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| Rao E, Weiss B, Fukami M, Mertz A, Meder J, Ogata T, Heinrich U, Garcia-Heras J, Schiebel K, Rappold GA.
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| Hum Genet 100(2):236-9. 1997
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| 10 | GCX, GCY, TS
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| Turner syndrome : a cytogenetic and molecular study.
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| Jacobs P, et al.
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| Ann Hum Genet 61 : 471-483. 1997
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| 11 | CSF2RA,GCX,IL3RA
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| Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation.
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| Joseph M, et al.
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| J Med Genet 33 : 906-911. 1996
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| 12 | GCX
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| Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15 : further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s).
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| Ogata T, et al.
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| J Med Genet 32 : 831-834. 1995
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| 13 | GCX
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| Short stature in a girl with a terminal Xp deletion distal to DXYS15 : localisation of a growth gene(s) in the pseudoautosomal region.
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| Ogata T, et al.
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| J Med Genet 29 : 455-459. 1992
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| 14 | GCX
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| Chromosomal localisation of a pseudoautosomal growth gene(s).
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| Ogata T, et al.
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| J Med Genet 29 : 624-628. 1992
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| 15 | GCX
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| Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.
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| Henke A, et al.
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| Am J Hum Genet 49 : 811-819. 1991
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| 16 | GCX
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| A ring X chromosome, 46, Y ,r(X)(p22.33q28), as a cause of extreme short stature in a male.
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| Ogata T, et al.
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| Am J Med Genet 35 : 241-244. 1990
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| 17 | CDPX1, GCX
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| An interstitial deletion in Xp22.3 in a family with-linked recessive chondrodysplasia punctata and short stature.
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| Petit C, et al.
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| Hum Genet 85 : 247-250. 1990
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