메뉴 건너뛰기




Volumn 66, Issue 2, 2000, Pages 469-479

A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CEPHALOMETRY; CHROMOSOME MAP; CHROMOSOME XQ; FACE DYSMORPHIA; FRAGILE X SYNDROME; GENDER; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; KARYOTYPE; LYMPHOCYTE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PEDIGREE; PRIORITY JOURNAL;

EID: 0033925017     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302772     Document Type: Article
Times cited : (22)

References (47)
  • 2
    • 0029045841 scopus 로고
    • Nonspecific X-linked mental retardation with macrocephaly and obesity: A further family
    • Baraitser M, Reardon W, Vijeratnam S (1995) Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. Am J Med Genet 57:380-384
    • (1995) Am J Med Genet , vol.57 , pp. 380-384
    • Baraitser, M.1    Reardon, W.2    Vijeratnam, S.3
  • 3
    • 0023760109 scopus 로고
    • A new X-linked dysplasia gigantism syndrome: Follow-up in the first family and report on a second Austrian family
    • Behmel A, Plochl E, Rosenkranz W (1988) A new X-linked dysplasia gigantism syndrome: follow-up in the first family and report on a second Austrian family. Am J Med Genet 30:275-285
    • (1988) Am J Med Genet , vol.30 , pp. 275-285
    • Behmel, A.1    Plochl, E.2    Rosenkranz, W.3
  • 4
    • 84911692139 scopus 로고
    • Proceedings of seminars on the Lesch-Nyhan syndrome
    • Bland JH (1968) Proceedings of seminars on the Lesch-Nyhan syndrome. Fed Proc 27:1017-1112
    • (1968) Fed Proc , vol.27 , pp. 1017-1112
    • Bland, J.H.1
  • 5
    • 0002540231 scopus 로고
    • An X-linked recessively inherited syndrome characterized by grave mental deficiency, epilepsy and endocrine disorder
    • Börjeson M, Forssman H, Lehmann O (1962) An X-linked recessively inherited syndrome characterized by grave mental deficiency, epilepsy and endocrine disorder. Acta Med Scand 171:13-21
    • (1962) Acta Med Scand , vol.171 , pp. 13-21
    • Börjeson, M.1    Forssman, H.2    Lehmann, O.3
  • 6
    • 0027180955 scopus 로고
    • Simpson-Golabi-Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case
    • Chen E, Johnson JP, Cox VA, Golabi M (1993) Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case. Am J Med Genet 46:574-578
    • (1993) Am J Med Genet , vol.46 , pp. 574-578
    • Chen, E.1    Johnson, J.P.2    Cox, V.A.3    Golabi, M.4
  • 7
    • 0023275466 scopus 로고
    • A new X-linked mental retardation syndrome
    • Clark RD, Baraitser M (1987) A new X-linked mental retardation syndrome. Am J Med Genet 26:13-15
    • (1987) Am J Med Genet , vol.26 , pp. 13-15
    • Clark, R.D.1    Baraitser, M.2
  • 8
    • 0000979928 scopus 로고
    • Mental retardation with osteocartilaginous anomalies
    • Coffin GS, Siris E, Wegienka LC (1966) Mental retardation with osteocartilaginous anomalies. Am J Dis Child 112: 205-213
    • (1966) Am J Dis Child , vol.112 , pp. 205-213
    • Coffin, G.S.1    Siris, E.2    Wegienka, L.C.3
  • 9
    • 0002978383 scopus 로고
    • Weight-stature indices to measure underweight, overweight and obesity
    • Himes JH (ed) Wiley & Sons, New York
    • Cole TJ (1991) Weight-stature indices to measure underweight, overweight and obesity. In: Himes JH (ed) Anthropometric assessment of nutritional status. Wiley & Sons, New York, pp 83-112
    • (1991) Anthropometric Assessment of Nutritional Status , pp. 83-112
    • Cole, T.J.1
  • 10
    • 0021982118 scopus 로고
    • X-linked motor-sensory neuropathy type-II with deafness and mental retardation: A new disorder
    • Cowchock FS, Duckett SW, Streletz LJ, Graziani LJ, Jackson LG (1985) X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. Am J Med Genet 20:307-315
    • (1985) Am J Med Genet , vol.20 , pp. 307-315
    • Cowchock, F.S.1    Duckett, S.W.2    Streletz, L.J.3    Graziani, L.J.4    Jackson, L.G.5
  • 11
    • 0025906669 scopus 로고
    • Identification of 17 independent mutations responsible for human hypoxanthineguanine phosphoribosyltransferase (HPRT) deficiency
    • Davidson BL, Tarle SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD (1991) Identification of 17 independent mutations responsible for human hypoxanthineguanine phosphoribosyltransferase (HPRT) deficiency. Am J Hum Genet 48:951-958
    • (1991) Am J Hum Genet , vol.48 , pp. 951-958
    • Davidson, B.L.1    Tarle, S.A.2    Van Antwerp, M.3    Gibbs, D.A.4    Watts, R.W.5    Kelley, W.N.6    Palella, T.D.7
  • 12
    • 0031846946 scopus 로고    scopus 로고
    • The X-linked mental retardation, macrosomia, macrocephaly and obesity syndrome (Baraitser syndrome): A Brazilian case
    • de Pina-Neto JM, de Molfetta GA (1998) The X-linked mental retardation, macrosomia, macrocephaly and obesity syndrome (Baraitser syndrome): a Brazilian case. Clin Dysmorphol 7:233-234
    • (1998) Clin Dysmorphol , vol.7 , pp. 233-234
    • Pina-Neto, J.M.1    De Molfetta, G.A.2
  • 15
  • 16
    • 0028939603 scopus 로고
    • Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
    • Gibbons RJ, Picketts DJ, Villard L, Higgs DR (1995) Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80:837-845
    • (1995) Cell , vol.80 , pp. 837-845
    • Gibbons, R.J.1    Picketts, D.J.2    Villard, L.3    Higgs, D.R.4
  • 17
    • 0026091916 scopus 로고
    • A newly defined X-linked mental retardation syndrome associated with alpha thalassemia
    • Gibbons RJ, Wilkie AO, Weatherall DJ, Higgs DR (1991) A newly defined X-linked mental retardation syndrome associated with alpha thalassemia. J Med Genet 28:729-733
    • (1991) J Med Genet , vol.28 , pp. 729-733
    • Gibbons, R.J.1    Wilkie, A.O.2    Weatherall, D.J.3    Higgs, D.R.4
  • 18
    • 0021329881 scopus 로고
    • A new X-linked mental retardation-overgrowth syndrome
    • Golabi M, Rosen L (1984) A new X-linked mental retardation-overgrowth syndrome. Am J Med Genet 17:345-358
    • (1984) Am J Med Genet , vol.17 , pp. 345-358
    • Golabi, M.1    Rosen, L.2
  • 19
    • 0027458874 scopus 로고
    • A new X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizure, spasticity, restricted joint motility, and early death
    • Gustavson KH, Anneren G, Malmgren H, Dahl N, Ljunggren CG, Backman H (1993) A new X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizure, spasticity, restricted joint motility, and early death. Am J Med Genet 45:654-658
    • (1993) Am J Med Genet , vol.45 , pp. 654-658
    • Gustavson, K.H.1    Anneren, G.2    Malmgren, H.3    Dahl, N.4    Ljunggren, C.G.5    Backman, H.6
  • 21
    • 0026325324 scopus 로고
    • Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26)
    • Huang THM, Hejtmancik JF, Edwards A, Pettigrew AL, Herrera CA, Hammond HA, Caskey CT, et al (1991) Linkage of the gene for an X-Iinked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). Am J Hum Genet 49:1312-1319
    • (1991) Am J Hum Genet , vol.49 , pp. 1312-1319
    • Huang, T.H.M.1    Hejtmancik, J.F.2    Edwards, A.3    Pettigrew, A.L.4    Herrera, C.A.5    Hammond, H.A.6    Caskey, C.T.7
  • 22
    • 0026651112 scopus 로고
    • Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: Localization of the gene to Xqcen-q21
    • Hughes-Benzie RM, Hunter AGW, Allanson JE, Mackenzie AE (1992) Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. Am J Med Genet 43:428-435
    • (1992) Am J Med Genet , vol.43 , pp. 428-435
    • Hughes-Benzie, R.M.1    Hunter, A.G.W.2    Allanson, J.E.3    Mackenzie, A.E.4
  • 24
    • 0000803318 scopus 로고
    • Construction of multilocus genetic linkage maps in humans
    • Lander ES, Green P (1987) Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci USA 84: 2363-2367
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 2363-2367
    • Lander, E.S.1    Green, P.2
  • 25
    • 0021344005 scopus 로고
    • Easy calculations of LOD scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM (1984) Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 6:460-465
    • (1984) Am J Hum Genet , vol.6 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 26
    • 0015336653 scopus 로고
    • A theory of X-linkage of major intellectual traits
    • Lehrke RG (1972) A theory of X-linkage of major intellectual traits. Am J Ment Defic 76:611-619
    • (1972) Am J Ment Defic , vol.76 , pp. 611-619
    • Lehrke, R.G.1
  • 27
    • 0015073716 scopus 로고
    • A new dominant gene mental retardation syndrome: Association with small stature, tapering fingers, characteristic facies and possible hydrocephalus
    • Lowry RB, Miller JR, Fraser FC (1971) A new dominant gene mental retardation syndrome: association with small stature, tapering fingers, characteristic facies and possible hydrocephalus. Am J Dis Child 121:496-500
    • (1971) Am J Dis Child , vol.121 , pp. 496-500
    • Lowry, R.B.1    Miller, J.R.2    Fraser, F.C.3
  • 29
    • 0030007791 scopus 로고    scopus 로고
    • Study of X-linked mental retardation (XLMR): Summary of 61 families in the Miami/Greenwood study
    • Lubs HA, Schwartz CE, Stevenson RE, Arena JF (1996b) Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood study. Am J Med Genet 64:169-175
    • (1996) Am J Med Genet , vol.64 , pp. 169-175
    • Lubs, H.A.1    Schwartz, C.E.2    Stevenson, R.E.3    Arena, J.F.4
  • 32
    • 0019968221 scopus 로고
    • Macroorchidism and fragile X in mentally retarded males: Clinical, cytogenetic, and some hormonal investigations in mentally retarded males, including two with the fragile site at Xq28,fra(X)(q28)
    • Nielson KB, Tommerup N, Dyggve HV, Schou C (1982) Macroorchidism and fragile X in mentally retarded males: clinical, cytogenetic, and some hormonal investigations in mentally retarded males, including two with the fragile site at Xq28,fra(X)(q28). Hum Genet 61:113-117
    • (1982) Hum Genet , vol.61 , pp. 113-117
    • Nielson, K.B.1    Tommerup, N.2    Dyggve, H.V.3    Schou, C.4
  • 33
    • 0022587235 scopus 로고
    • On the gates of hell and a most unusual gene
    • Opitz JM (1986) On the gates of hell and a most unusual gene. Am J Med Genet 23:1-10
    • (1986) Am J Med Genet , vol.23 , pp. 1-10
    • Opitz, J.M.1
  • 37
    • 0016812637 scopus 로고
    • A previously unrecognized X-linked syndrome of dysmorphia
    • Simpson JL, Landey S, New M, German J (1975) A previously unrecognized X-linked syndrome of dysmorphia. Birth Defects 11:18-24
    • (1975) Birth Defects , vol.11 , pp. 18-24
    • Simpson, J.L.1    Landey, S.2    New, M.3    German, J.4
  • 38
    • 0001004041 scopus 로고
    • Cephalometrics for you and me
    • Steiner CC (1953) Cephalometrics for you and me. Am J Orthod 39:729-755
    • (1953) Am J Orthod , vol.39 , pp. 729-755
    • Steiner, C.C.1
  • 39
    • 0028799050 scopus 로고
    • Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis
    • Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R (1995) Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. Am J Med Genet 59:329-333
    • (1995) Am J Med Genet , vol.59 , pp. 329-333
    • Terespolsky, D.1    Farrell, S.A.2    Siegel-Bartelt, J.3    Weksberg, R.4
  • 41
    • 0020458343 scopus 로고
    • X-linked mental retardation
    • Turner G (1982) X-linked mental retardation. Psychol Med 12:471-473
    • (1982) Psychol Med , vol.12 , pp. 471-473
    • Turner, G.1
  • 42
    • 0024854232 scopus 로고
    • Börjeson-Forssman-Lehmann syndrome: Clinical manifestations and gene localization to Xq26-27
    • Turner G, Gedeon A, Mulley J, Sutherland G, Rae J, Power K, Arthur I (1989) Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27. Am J Med Genet 34:463-469
    • (1989) Am J Med Genet , vol.34 , pp. 463-469
    • Turner, G.1    Gedeon, A.2    Mulley, J.3    Sutherland, G.4    Rae, J.5    Power, K.6    Arthur, I.7
  • 43
    • 0014949243 scopus 로고
    • Renpenning's syndrome-X linked mental retardation
    • Turner G, Turner B, Collins E (1970) Renpenning's syndrome-X linked mental retardation. Lancet 2:365-366
    • (1970) Lancet , vol.2 , pp. 365-366
    • Turner, G.1    Turner, B.2    Collins, E.3
  • 44
    • 0017835605 scopus 로고
    • Primary hypogonadism in the Börjeson-Forssman-Lehmann syndrome
    • Weber FT, Frias JL, Julius RL, Felman AH (1978) Primary hypogonadism in the Börjeson-Forssman-Lehmann syndrome. J Med Genet 15:63-66
    • (1978) J Med Genet , vol.15 , pp. 63-66
    • Weber, F.T.1    Frias, J.L.2    Julius, R.L.3    Felman, A.H.4
  • 47
    • 0023945707 scopus 로고
    • The Coffin-Lowry syndrome
    • Young ID (1988) The Coffin-Lowry syndrome. J Med Genet 25:344-348
    • (1988) J Med Genet , vol.25 , pp. 344-348
    • Young, I.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.