-
1
-
-
0033031537
-
Carpenter-Waziri syndrome results from a mutation in ATRX
-
Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontes M, Curtis M. 1999. Carpenter-Waziri syndrome results from a mutation in ATRX. Am J Med Genet 85:249-251.
-
(1999)
Am J Med Genet
, vol.85
, pp. 249-251
-
-
Abidi, F.1
Schwartz, C.E.2
Carpenter, N.J.3
Villard, L.4
Fontes, M.5
Curtis, M.6
-
2
-
-
33646226158
-
Reply to Dr. Hall
-
Adès LC. 1992. Reply to Dr. Hall. Am J Med Genet 44:251.
-
(1992)
Am J Med Genet
, vol.44
, pp. 251
-
-
Adès, L.C.1
-
4
-
-
33646216355
-
Chudley-Lowry syndrome results from absence of the ATRX protein
-
Abs 2033
-
Chudley AE, Daniels S, Moss T, Lubs HA, Stevenson RE, Schwartz CE. 2002. Chudley-Lowry syndrome results from absence of the ATRX protein. Am J Hum Genet 71: Abs 2033.
-
(2002)
Am J Hum Genet
, vol.71
-
-
Chudley, A.E.1
Daniels, S.2
Moss, T.3
Lubs, H.A.4
Stevenson, R.E.5
Schwartz, C.E.6
-
6
-
-
11244251988
-
ATRX and X-linked alpha thalassaemia mental retardation syndrome
-
Charles Epstein J, Robert Erickson P, Anthony Wynshaw-Boris, editors. New York: Oxford University Press
-
Gibbons RJ, Wada T. 2004. ATRX and X-linked alpha thalassaemia mental retardation syndrome. In: Charles Epstein J, Robert Erickson P, Anthony Wynshaw-Boris, editors. Inborn errors of development. New York: Oxford University Press.
-
(2004)
Inborn Errors of Development
-
-
Gibbons, R.J.1
Wada, T.2
-
7
-
-
0026091916
-
A newly defined X-linked metal retardation syndrome associated with α thalassemia
-
Gibbons RJ, Wilkie AOM, Weatherall DJ, Higgs DR. 1991. A newly defined X-linked metal retardation syndrome associated with α thalassemia. J Med Genet 28:729-733.
-
(1991)
J Med Genet
, vol.28
, pp. 729-733
-
-
Gibbons, R.J.1
Wilkie, A.O.M.2
Weatherall, D.J.3
Higgs, D.R.4
-
8
-
-
0028939603
-
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 D. 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.4
-
10
-
-
0026706666
-
Alpha-thalassemia/mental retardation syndrome often confused with other disorders
-
Hall BD. 1992. Alpha-thalassemia/mental retardation syndrome often confused with other disorders. Am J Med Genet 44:250.
-
(1992)
Am J Med Genet
, vol.44
, pp. 250
-
-
Hall, B.D.1
-
11
-
-
0028819376
-
Male Pseudohermaphroditism in sibs with the α-Thalassemia/mental Retardation (ATR-X) Syndrome
-
Reardon W, Gibbons RJ, Winter RM, Baraitser M. 1995. Male Pseudohermaphroditism in sibs with the α-Thalassemia/mental Retardation (ATR-X) Syndrome. Am J Med Genet 55:285-287.
-
(1995)
Am J Med Genet
, vol.55
, pp. 285-287
-
-
Reardon, W.1
Gibbons, R.J.2
Winter, R.M.3
Baraitser, M.4
-
12
-
-
0019219903
-
Short stature, psychomotor retardation, and unusual facial appearance in two brothers
-
Smith RD, Fineman RM, Myers GG. 1980. Short stature, psychomotor retardation, and unusual facial appearance in two brothers. Am J Med Genet 7:5-9.
-
(1980)
Am J Med Genet
, vol.7
, pp. 5-9
-
-
Smith, R.D.1
Fineman, R.M.2
Myers, G.G.3
-
13
-
-
1542283736
-
Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations
-
Steensma DP, Higgs DR, Fisher CA, Gibbons RJ. 2004. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. Blood 103:2019-2026.
-
(2004)
Blood
, vol.103
, pp. 2019-2026
-
-
Steensma, D.P.1
Higgs, D.R.2
Fisher, C.A.3
Gibbons, R.J.4
-
14
-
-
0022214608
-
Smith-Fineman-Myers syndrome: Report of a third case
-
Stephenson LD, Johnson JP. 1985. Smith-Fineman-Myers syndrome: Report of a third case. Am J Med genet 22:301-304.
-
(1985)
Am J Med Genet
, vol.22
, pp. 301-304
-
-
Stephenson, L.D.1
Johnson, J.P.2
-
15
-
-
0034706388
-
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome
-
Stevenson RE, Abidi F, Schwartz CE, Lubs HA, Holmes LB. 2000. Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. Am J Med Genet 94:383-385.
-
(2000)
Am J Med Genet
, vol.94
, pp. 383-385
-
-
Stevenson, R.E.1
Abidi, F.2
Schwartz, C.E.3
Lubs, H.A.4
Holmes, L.B.5
-
16
-
-
0030115629
-
ATRX mutation in a large family with Juberg-Marsidi syndrome
-
Villard L, Saugier-Veber P, Gecz J, Mattei JF, Munnich A, Lyonnet S, Fontès M. 1996a. ATRX mutation in a large family with Juberg-Marsidi syndrome. Nature Genet 12:359-360.
-
(1996)
Nature Genet
, vol.12
, pp. 359-360
-
-
Villard, L.1
Saugier-Veber, P.2
Gecz, J.3
Mattei, J.F.4
Munnich, A.5
Lyonnet, S.6
Fontès, M.7
-
17
-
-
0030043739
-
Splicing mutation in the ATR-X gene can lead to a mental retardation phenotype without alpha thalassemia
-
Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontès M. 1996b. Splicing mutation in the ATR-X gene can lead to a mental retardation phenotype without alpha thalassemia. Am J Hum Genet 58: 499-505.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 499-505
-
-
Villard, L.1
Toutain, A.2
Lossi, A.M.3
Gecz, J.4
Houdayer, C.5
Moraine, C.6
Fontès, M.7
-
18
-
-
0033624906
-
Identification of a mutation in the ATRX/ATR-X Gene in a family reported as Smith-Fineman-Myers syndrome
-
Villard L, Fontès M, Adès L, Gecz J. 2000. Identification of a mutation in the ATRX/ATR-X Gene in a family reported as Smith-Fineman-Myers syndrome. Am J Med Genet 91:83-85.
-
(2000)
Am J Med Genet
, vol.91
, pp. 83-85
-
-
Villard, L.1
Fontès, M.2
Adès, L.3
Gecz, J.4
-
19
-
-
0019784411
-
Hemoglobin H disease and mental retardation. A new syndrome or remarkable coincidence
-
Weatherall DJ, Higgs DR, Bunch C, Old JM, Hunt DM, Pressley L, Clegg JB, Bethlenfalvay NC, Sjolin S, Koler RD, Magenis E, Francis JL, Bebbington D. 1981. Hemoglobin H disease and mental retardation. A new syndrome or remarkable coincidence. N Engl J Med 305:607-612.
-
(1981)
N Engl J Med
, vol.305
, pp. 607-612
-
-
Weatherall, D.J.1
Higgs, D.R.2
Bunch, C.3
Old, J.M.4
Hunt, D.M.5
Pressley, L.6
Clegg, J.B.7
Bethlenfalvay, N.C.8
Sjolin, S.9
Koler, R.D.10
Magenis, E.11
Francis, J.L.12
Bebbington, D.13
-
20
-
-
0027272302
-
Smith-Fineman-Myers syndrome: Report on a large family
-
Wei J, Chen B, Jiang Y, Yang Y, Guo Y. 1993. Smith-Fineman-Myers syndrome: Report on a large family. Am J Med Genet 47:307-311.
-
(1993)
Am J Med Genet
, vol.47
, pp. 307-311
-
-
Wei, J.1
Chen, B.2
Jiang, Y.3
Yang, Y.4
Guo, Y.5
-
21
-
-
0025279092
-
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3
-
Wilkie AOM, Buckle VJ, Harris PC, Lamb J, Barton NJ, Reeders ST, Lindenbaum RH, Nicholls RD, Barrow M, Bethlenfalvay NC, Hutz MH, Tolmie JL, Weatherall DJ, Higgs DR. 199Oa. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet 46:1112-1126.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1112-1126
-
-
Wilkie, A.O.M.1
Buckle, V.J.2
Harris, P.C.3
Lamb, J.4
Barton, N.J.5
Reeders, S.T.6
Lindenbaum, R.H.7
Nicholls, R.D.8
Barrow, M.9
Bethlenfalvay, N.C.10
Hutz, M.H.11
Tolmie, J.L.12
Weatherall, D.J.13
Higgs, D.R.14
-
22
-
-
0025322541
-
Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the α globin gene complex
-
Wilkie AOM, Zeitlin HC, Lindenbaum RH, Buckle VJ, Fischel-Ghodsian N, Chui DHK, Gardner-Medwin D, MacGillvray MH, Weatherall DJ, Higgs DR. 1990b. Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the α globin gene complex. Am J Hum Genet 46:1127-1140.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1127-1140
-
-
Wilkie, A.O.M.1
Zeitlin, H.C.2
Lindenbaum, R.H.3
Buckle, V.J.4
Fischel-Ghodsian, N.5
Chui, D.H.K.6
Gardner-Medwin, D.7
MacGillvray, M.H.8
Weatherall, D.J.9
Higgs, D.R.10
-
23
-
-
0026070052
-
X-Linked α thalassemia/mental retardation: Spectrum of clinical features in three related males
-
Wilkie AOM, Gibbons RJ, Higgs DR, Pembrey ME. 1991. X-Linked α thalassemia/mental retardation: Spectrum of clinical features in three related males. J Med Genet 28:738-741.
-
(1991)
J Med Genet
, vol.28
, pp. 738-741
-
-
Wilkie, A.O.M.1
Gibbons, R.J.2
Higgs, D.R.3
Pembrey, M.E.4
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