-
1
-
-
0028072370
-
Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa
-
Aldred MA, Dry KL, Knight-Jones EB, Hardwick IJ, Teague PW, Lester DH, Brown J, Spowart G, Carothers AD, Raeburn JA, Bird AC, Fielder AR (1994): Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. Am J Hum Genet 55:916-922.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 916-922
-
-
Aldred, M.A.1
Dry, K.L.2
Knight-Jones, E.B.3
Hardwick, I.J.4
Teague, P.W.5
Lester, D.H.6
Brown, J.7
Spowart, G.8
Carothers, A.D.9
Raeburn, J.A.10
Bird, A.C.11
Fielder, A.R.12
-
2
-
-
0030007790
-
X-Linked mental retardation with thin habitus, osteoporosis and kyphoscoliosis: Linkage to Xp21.3-p22.12
-
Arena JF, Schwartz C, Ouzts L, Stevenson R, Miller M, Garza J, Nance M, Lubs HA (1996): X-Linked mental retardation with thin habitus, osteoporosis and kyphoscoliosis: Linkage to Xp21.3-p22.12. Am J Med Genet 64:50-58.
-
(1996)
Am J Med Genet
, vol.64
, pp. 50-58
-
-
Arena, J.F.1
Schwartz, C.2
Ouzts, L.3
Stevenson, R.4
Miller, M.5
Garza, J.6
Nance, M.7
Lubs, H.A.8
-
3
-
-
0026772894
-
Spastic paraplegia with iron deposits in the basal ganglia: A new X-linked mental retardation syndrome
-
Arena JF, Schwartz C, Stevenson R, Lawrence L, Carpenter A, Duara R, Ledbetter D, Huang T, Lehner T, Ott J, Lubs HA (1992): Spastic paraplegia with iron deposits in the basal ganglia: A new X-linked mental retardation syndrome. Am J Med Genet 43:479-490.
-
(1992)
Am J Med Genet
, vol.43
, pp. 479-490
-
-
Arena, J.F.1
Schwartz, C.2
Stevenson, R.3
Lawrence, L.4
Carpenter, A.5
Duara, R.6
Ledbetter, D.7
Huang, T.8
Lehner, T.9
Ott, J.10
Lubs, H.A.11
-
5
-
-
0029893262
-
Localization of two X-linked mental retardation (XLMR) genes to Xp:MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22
-
Bar-David S, Leerer I, Sarfaty CK, Kohan ZG, Meiner V, Abeliovich D (1996): Localization of two X-linked mental retardation (XLMR) genes to Xp:MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22. Am J Med Genet 64:83-88.
-
(1996)
Am J Med Genet
, vol.64
, pp. 83-88
-
-
Bar-David, S.1
Leerer, I.2
Sarfaty, C.K.3
Kohan, Z.G.4
Meiner, V.5
Abeliovich, D.6
-
6
-
-
0002458327
-
X-linked pachygyria and agenesis of corpus callosum in two generations: A new CNS migration disorder
-
Berry-Krevis, Israel J (1992): X-linked pachygyria and agenesis of corpus callosum in two generations: A new CNS migration disorder. Ann Neurol 32:482-483.
-
(1992)
Ann Neurol
, vol.32
, pp. 482-483
-
-
Berry-Krevis1
Israel, J.2
-
7
-
-
0026728485
-
Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infection
-
Bertini E, Cusmai R, de Saint Basile G, Le Deist F, Di Capua M, Gaggero R, Dionisi-Vici C, Santillo C, Caniglia M (1992): Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infection. Am J Med Genet 43:443-451.
-
(1992)
Am J Med Genet
, vol.43
, pp. 443-451
-
-
Bertini, E.1
Cusmai, R.2
De Saint Basile, G.3
Le Deist, F.4
Di Capua, M.5
Gaggero, R.6
Dionisi-Vici, C.7
Santillo, C.8
Caniglia, M.9
-
8
-
-
2542532627
-
Physical mapping of the breakpoints of an X chromosome inversion inv(X)(q11q28) which cosegrates with FG syndrome in a French family
-
Briault S, Villard L, Odent S, Lucas J, Ronce N, Toutain A, Guichet A, Le Merrer M, Turleau C, Munnich A, Fontes M, Moraine C (1996): Physical mapping of the breakpoints of an X chromosome inversion inv(X)(q11q28) which cosegrates with FG syndrome in a French family. Am J Med Genet 64:(A28):15-20.
-
(1996)
Am J Med Genet
, vol.64
, Issue.A28
, pp. 15-20
-
-
Briault, S.1
Villard, L.2
Odent, S.3
Lucas, J.4
Ronce, N.5
Toutain, A.6
Guichet, A.7
Le Merrer, M.8
Turleau, C.9
Munnich, A.10
Fontes, M.11
Moraine, C.12
-
9
-
-
0028304863
-
A new X-linked mental retardation (XLMR) syndrome with distinctive facial appearance and growth retardation
-
Brooks SS, Wisniewski K, Brown WT (1994): A new X-linked mental retardation (XLMR) syndrome with distinctive facial appearance and growth retardation. Am J Med Genet 51:586-590.
-
(1994)
Am J Med Genet
, vol.51
, pp. 586-590
-
-
Brooks, S.S.1
Wisniewski, K.2
Brown, W.T.3
-
10
-
-
0001720466
-
Studies on X-linked mental retardation: Evidence for a gene in the region Xq11-q22
-
Carpenter NJ, Waziri M, Liston J, Patil SR (1988): Studies on X-linked mental retardation: Evidence for a gene in the region Xq11-q22. Am J Hum Genet 43:A139.
-
(1988)
Am J Hum Genet
, vol.43
-
-
Carpenter, N.J.1
Waziri, M.2
Liston, J.3
Patil, S.R.4
-
12
-
-
0029888522
-
Linkage analysis in three families with non-specific X-linked mental retardation
-
Claes S, Gu XX, Legius E, Lorenzetti E, Fryns JP, Cassiman JJ, Raeymaekers P (1996): Linkage analysis in three families with non-specific X-linked mental retardation. Am J Med Genet 64: 137-146.
-
(1996)
Am J Med Genet
, vol.64
, pp. 137-146
-
-
Claes, S.1
Gu, X.X.2
Legius, E.3
Lorenzetti, E.4
Fryns, J.P.5
Cassiman, J.J.6
Raeymaekers, P.7
-
13
-
-
0027497867
-
Prenatal diagnosis of Dandy-Walker malformation in a family displaying X-linked inheritance
-
Cowles T, Furman P, Wilkins I (1993): Prenatal diagnosis of Dandy-Walker malformation in a family displaying X-linked inheritance. Prenatal Diagn 13:87-91.
-
(1993)
Prenatal Diagn
, vol.13
, pp. 87-91
-
-
Cowles, T.1
Furman, P.2
Wilkins, I.3
-
14
-
-
2542613313
-
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter
-
Tromso, Norway
-
DesPortes V, Bachner L, Bruis T, Beldjord C, Billuart P, Soufir N, Bienvenu TH, Vinet MC, Malaspina E, Marchiani V, Bertini E, Kahn A, Franzoni F, Chelly J (1996): X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter. Seventh International Workshop on the Fragile X and X-linked Mental Retardation, Tromso, Norway.
-
(1996)
Seventh International Workshop on the Fragile X and X-linked Mental Retardation
-
-
DesPortes, V.1
Bachner, L.2
Bruis, T.3
Beldjord, C.4
Billuart, P.5
Soufir, N.6
Bienvenu, T.H.7
Vinet, M.C.8
Malaspina, E.9
Marchiani, V.10
Bertini, E.11
Kahn, A.12
Franzoni, F.13
Chelly, J.14
-
15
-
-
0030011779
-
Localization of two non-specific X-linked mental retardation genes (MRX30 and MRX31)
-
Donnelly A, Partington M, Ryan A, Mulley J (1996): Localization of two non-specific X-linked mental retardation genes (MRX30 and MRX31). Am J Med Genet 64:113-120.
-
(1996)
Am J Med Genet
, vol.64
, pp. 113-120
-
-
Donnelly, A.1
Partington, M.2
Ryan, A.3
Mulley, J.4
-
16
-
-
0028246328
-
Regional localization of a second non-specific X-linked mental retardation gene (MRX19) to Xp22
-
Donnelly AJ, Choo KHA, Kozman HM, Gedeon AK, Danks DM, Mulley JC (1994): Regional localization of a second non-specific X-linked mental retardation gene (MRX19) to Xp22. Am J Med Genet 51:581-585.
-
(1994)
Am J Med Genet
, vol.51
, pp. 581-585
-
-
Donnelly, A.J.1
Choo, K.H.A.2
Kozman, H.M.3
Gedeon, A.K.4
Danks, D.M.5
Mulley, J.C.6
-
17
-
-
0029889132
-
The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule
-
Fransen E, Vits L, Van Camp G, Willems PJ (1996): The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule. Am J Med Genet 64:73-77.
-
(1996)
Am J Med Genet
, vol.64
, pp. 73-77
-
-
Fransen, E.1
Vits, L.2
Van Camp, G.3
Willems, P.J.4
-
18
-
-
0027196748
-
Mental retardation locus in Xp21 chromosome microdeletion
-
Fries MH, Lebo RV, Schonberg SA, Golabi M, Seltzer WK, Gitelman SE, Golbus MS (1993): Mental retardation locus in Xp21 chromosome microdeletion. Am J Med Genet 46:363-368.
-
(1993)
Am J Med Genet
, vol.46
, pp. 363-368
-
-
Fries, M.H.1
Lebo, R.V.2
Schonberg, S.A.3
Golabi, M.4
Seltzer, W.K.5
Gitelman, S.E.6
Golbus, M.S.7
-
19
-
-
0030137717
-
Identification of FMR2: A gene associated with FRAXE mental retardation
-
Gecz J, Gedeon AK, Sutherland GR, Mulley JC (1996): Identification of FMR2: A gene associated with FRAXE mental retardation. Nat Gen 13:105-108.
-
(1996)
Nat Gen
, vol.13
, pp. 105-108
-
-
Gecz, J.1
Gedeon, A.K.2
Sutherland, G.R.3
Mulley, J.C.4
-
20
-
-
0030580992
-
Gene localization for Sutherland-Haan Syndrome (SHS:MIM 309470)
-
Gedeon AGI, Haan E, Mulley J (1996): Gene localization for Sutherland-Haan Syndrome (SHS:MIM 309470) [Letter to the Editor]. Am J Med Genet 64:78-79.
-
(1996)
Am J Med Genet
, vol.64
, pp. 78-79
-
-
Gedeon, A.G.I.1
Haan, E.2
Mulley, J.3
-
21
-
-
0029951977
-
Genetic localization of MRX27 to Xq24-26 defines the sixth discrete gene for non-specific X-linked mental retardation
-
Gedeon AK, Glass IA, Connor JM, Mulley JC (1996): Genetic localization of MRX27 to Xq24-26 defines the sixth discrete gene for non-specific X-linked mental retardation. Am J Med Genet 64:121-124.
-
(1996)
Am J Med Genet
, vol.64
, pp. 121-124
-
-
Gedeon, A.K.1
Glass, I.A.2
Connor, J.M.3
Mulley, J.C.4
-
22
-
-
0030580974
-
How many X-linked genes for non-specific mental retardation (MRX) are there?
-
Gedeon A, Kerr B, Turner G, Mulley J (1996): How many X-linked genes for non-specific mental retardation (MRX) are there? Am J Med Genet 64:158-162.
-
(1996)
Am J Med Genet
, vol.64
, pp. 158-162
-
-
Gedeon, A.1
Kerr, B.2
Turner, G.3
Mulley, J.4
-
23
-
-
0025884456
-
Localization of the MRX3 gene for non-specific X-linked mental retardation
-
Gedeon A, Kerr B, Mulley J, Turner G (1991): Localization of the MRX3 gene for non-specific X-linked mental retardation. J Med Genet 28:372-377.
-
(1991)
J Med Genet
, vol.28
, pp. 372-377
-
-
Gedeon, A.1
Kerr, B.2
Mulley, J.3
Turner, G.4
-
24
-
-
0028195097
-
X-linked mental retardation exhibiting linkage to DXS255 and PGK1P1: A new MRX family (MRX14) with localization in the pericentromeric region
-
Gendrot C, Ronce N, Toutain A, Moizard M-P, Muh J-P, Raynaud M, Dourlens J, Briault S, Moraine C (1994): X-linked mental retardation exhibiting linkage to DXS255 and PGK1P1: A new MRX family (MRX14) with localization in the pericentromeric region. Clin Genet 45:145-153.
-
(1994)
Clin Genet
, vol.45
, pp. 145-153
-
-
Gendrot, C.1
Ronce, N.2
Toutain, A.3
Moizard, M.-P.4
Muh, J.-P.5
Raynaud, M.6
Dourlens, J.7
Briault, S.8
Moraine, C.9
-
25
-
-
0027362770
-
X-linked VACTERL with hydrocephalus: The VACTERL-H syndrome
-
Genuardi M, Chiurazzi P, Capelli A, Neri G (1993): X-linked VACTERL with hydrocephalus: The VACTERL-H syndrome. BDOAS 29(1):235-241.
-
(1993)
BDOAS
, vol.29
, Issue.1
, pp. 235-241
-
-
Genuardi, M.1
Chiurazzi, P.2
Capelli, A.3
Neri, G.4
-
26
-
-
0028939603
-
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-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 α-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
-
27
-
-
0026033042
-
Linkage analysis in a large family with non-specific X-linked mental retardation
-
Glass IA, White EM, Pope MJ, Pirrit LA, Cockburn F, Connor JM (1991): Linkage analysis in a large family with non-specific X-linked mental retardation. Am J Med Genet 38:240-243.
-
(1991)
Am J Med Genet
, vol.38
, pp. 240-243
-
-
Glass, I.A.1
White, E.M.2
Pope, M.J.3
Pirrit, L.A.4
Cockburn, F.5
Connor, J.M.6
-
28
-
-
0021357701
-
A new X-linked multiple congenital anomalies/mental retardation syndrome
-
Golabi M, Ito M, Hall BD (1984): A new X-linked multiple congenital anomalies/mental retardation syndrome. Am J Med Genet 17:367-374.
-
(1984)
Am J Med Genet
, vol.17
, pp. 367-374
-
-
Golabi, M.1
Ito, M.2
Hall, B.D.3
-
29
-
-
0030043924
-
Localization of a non-specific X-linked mental retardation gene MRX23 to Xq23-q24
-
Gregg RG, Palmer C, Kirkpatrick S, Simantel A (1996): Localization of a non-specific X-linked mental retardation gene MRX23 to Xq23-q24. Hum Mol Genet 3:411-414.
-
(1996)
Hum Mol Genet
, vol.3
, pp. 411-414
-
-
Gregg, R.G.1
Palmer, C.2
Kirkpatrick, S.3
Simantel, A.4
-
30
-
-
0030044978
-
Localization of a new gene for non-specific mental retardation to Xq22-q26 (MRX35)
-
Gu XX, Decorte R, Marynen P, Fryns J-P, Cassiman J-J, Raeymaekers P (1996): Localization of a new gene for non-specific mental retardation to Xq22-q26 (MRX35). J Med Genet 33:52-55.
-
(1996)
J Med Genet
, vol.33
, pp. 52-55
-
-
Gu, X.X.1
Decorte, R.2
Marynen, P.3
Fryns, J.-P.4
Cassiman, J.-J.5
Raeymaekers, P.6
-
31
-
-
0030138905
-
Identification of a novel gene (FMR2) associated with FRAXE CCG repeat and CpG island
-
Gu Y, Shen Y, Gibbs RA, Nelson DL (1996): Identification of a novel gene (FMR2) associated with FRAXE CCG repeat and CpG island. Nature Genet 13:109-113.
-
(1996)
Nature Genet
, vol.13
, pp. 109-113
-
-
Gu, Y.1
Shen, Y.2
Gibbs, R.A.3
Nelson, D.L.4
-
32
-
-
0027249597
-
Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene
-
Guo W, Worley K, Adams V, Mason J, Sylvester-Jackson D, Zhang Y-H, Towbin JA, Fogt DD, Madu S, Wheeler DA, McCabe ERB (1993): Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nature Genet 4: 367-371.
-
(1993)
Nature Genet
, vol.4
, pp. 367-371
-
-
Guo, W.1
Worley, K.2
Adams, V.3
Mason, J.4
Sylvester-Jackson, D.5
Zhang, Y.-H.6
Towbin, J.A.7
Fogt, D.D.8
Madu, S.9
Wheeler, D.A.10
McCabe, E.R.B.11
-
33
-
-
2542557021
-
Mapping of a balanced X;15 translocation in a female with severe mental retardation
-
Gustavson P, Gustavson KH, Larsson K, White I, Zewch L, Dahl N (1996): Mapping of a balanced X;15 translocation in a female with severe mental retardation. Am J Med Genet 64: (A24):15-20.
-
(1996)
Am J Med Genet
, vol.64
, Issue.A24
, pp. 15-20
-
-
Gustavson, P.1
Gustavson, K.H.2
Larsson, K.3
White, I.4
Zewch, L.5
Dahl, N.6
-
34
-
-
0029949944
-
A gene for non-specific X-linked mental retardation is located in the distal segment of Xq28
-
Hamel BCJ, Kremer H, Wesby-van Swaay E, van den Helm B, Smits APT, Oostra BA, Ropers HH, Mariman ECM (1996): A gene for non-specific X-linked mental retardation is located in the distal segment of Xq28. Am J Med Genet 64:131-133.
-
(1996)
Am J Med Genet
, vol.64
, pp. 131-133
-
-
Hamel, B.C.J.1
Kremer, H.2
Wesby-van Swaay, E.3
Van Den Helm, B.4
Smits, A.P.T.5
Oostra, B.A.6
Ropers, H.H.7
Mariman, E.C.M.8
-
35
-
-
0028245481
-
Mental retardation, congenital heart defect, cleft palate, short stature and facial dysmorphism: A new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies
-
Hamel BCJ, Mariman CM, van Beersum SEC, Schoonbrood-Lenssen AMJ, Ropers HH (1994): Mental retardation, congenital heart defect, cleft palate, short stature and facial dysmorphism: A new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. Am J Med Genet 51:591-597.
-
(1994)
Am J Med Genet
, vol.51
, pp. 591-597
-
-
Hamel, B.C.J.1
Mariman, C.M.2
Van Beersum, S.E.C.3
Schoonbrood-Lenssen, A.M.J.4
Ropers, H.H.5
-
36
-
-
0029971076
-
Familial X-linked mental retardation and isolated growth hormone deficiency - Clinical and molecular findings
-
Hamel BCJ, Smits APT, Otten BJ, van den Helm B, Ropers HH, Mariman ECM (1996): Familial X-linked mental retardation and isolated growth hormone deficiency - Clinical and molecular findings. Am J Med Genet 64:35-41.
-
(1996)
Am J Med Genet
, vol.64
, pp. 35-41
-
-
Hamel, B.C.J.1
Smits, A.P.T.2
Otten, B.J.3
Van Den Helm, B.4
Ropers, H.H.5
Mariman, E.C.M.6
-
37
-
-
0030458716
-
Nonsyndromic X-linked mental retardation: Review and Mapping of MRX29 to Xp21
-
in press
-
Hane B, Schroer RJ, Arena JF, Lubs HA, Schwartz CE, Stevenson RE (1996): Nonsyndromic X-linked mental retardation: Review and Mapping of MRX29 to Xp21. Clin Genet, in press.
-
(1996)
Clin Genet
-
-
Hane, B.1
Schroer, R.J.2
Arena, J.F.3
Lubs, H.A.4
Schwartz, C.E.5
Stevenson, R.E.6
-
38
-
-
0027372722
-
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X-linked phenotype distinct from Goltz syndrome
-
Happle R, Daniels O, Koopman RJJ (1993): MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X-linked phenotype distinct from Goltz syndrome. Am J Med Genet 47:710-713.
-
(1993)
Am J Med Genet
, vol.47
, pp. 710-713
-
-
Happle, R.1
Daniels, O.2
Koopman, R.J.J.3
-
39
-
-
0019193212
-
Non-specific X-linked mental retardation II: The frequency in British Columbia
-
Herbst DS, Miller JR (1980): Non-specific X-linked mental retardation II: The frequency in British Columbia. Am J Med Genet 7:461-469.
-
(1980)
Am J Med Genet
, vol.7
, pp. 461-469
-
-
Herbst, D.S.1
Miller, J.R.2
-
40
-
-
2542631559
-
Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)
-
Tromso, Norway
-
Holinski-Feder E, Golla A, Rost I, Seidel H, Rittinger O, Meindl A (1996): Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33). Seventh International Workshop on the Fragile X and X-linked Mental Retardation, Tromso, Norway.
-
(1996)
Seventh International Workshop on the Fragile X and X-linked Mental Retardation
-
-
Holinski-Feder, E.1
Golla, A.2
Rost, I.3
Seidel, H.4
Rittinger, O.5
Meindl, A.6
-
41
-
-
2542610273
-
Linkage analysis and mutation screening in three large families with non-syndroraic X-linked mental retardation
-
Tromso, Norway
-
Holinski-Feder E, Golla A, Rost I, Seidel H, Rittinger O, Meindl A (1996): Linkage analysis and mutation screening in three large families with non-syndroraic X-linked mental retardation. Seventh International Workshop on the Fragile X and X-linked Mental Retardation, Tromso, Norway.
-
(1996)
Seventh International Workshop on the Fragile X and X-linked Mental Retardation
-
-
Holinski-Feder, E.1
Golla, A.2
Rost, I.3
Seidel, H.4
Rittinger, O.5
Meindl, A.6
-
42
-
-
0021355160
-
An X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and clubfoot
-
Holmes LE, Gang DL (1984): An X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and clubfoot. Am J Med Genet 17:375-382.
-
(1984)
Am J Med Genet
, vol.17
, pp. 375-382
-
-
Holmes, L.E.1
Gang, D.L.2
-
43
-
-
0018356614
-
Familial X-linked mental retardation, verbal disability and marker X chromsomes
-
Howard-Peebles PN, Stoddard GR, Mims MG (1979): Familial X-linked mental retardation, verbal disability and marker X chromsomes. Am J Hum Genet 31:214-222.
-
(1979)
Am J Hum Genet
, vol.31
, pp. 214-222
-
-
Howard-Peebles, P.N.1
Stoddard, G.R.2
Mims, M.G.3
-
44
-
-
0026706447
-
A new X linked syndrome with mental retardation and craniofacial dysmorphism?
-
Hyde-Forster I, McCarthy G, Berry AC (1992): A new X linked syndrome with mental retardation and craniofacial dysmorphism? J Med Genet 29:736-738.
-
(1992)
J Med Genet
, vol.29
, pp. 736-738
-
-
Hyde-Forster, I.1
McCarthy, G.2
Berry, A.C.3
-
45
-
-
0028360994
-
Non-specific X-linked mental retardation: Linkage analysis in MRX2 and MRX4 families revisited
-
Hu L-J, Blumenfeld-Heyberger S, Hanauer A, Weissenbach J, Mandel J-L (1994): Non-specific X-linked mental retardation: Linkage analysis in MRX2 and MRX4 families revisited. Am J Med Genet 51:569-574.
-
(1994)
Am J Med Genet
, vol.51
, pp. 569-574
-
-
Hu, L.-J.1
Blumenfeld-Heyberger, S.2
Hanauer, A.3
Weissenbach, J.4
Mandel, J.-L.5
-
46
-
-
0025881976
-
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy
-
Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C (1991): Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. Am J Hum Genet 48:1075-1083.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1075-1083
-
-
Ionasescu, V.V.1
Trofatter, J.2
Haines, J.L.3
Summers, A.M.4
Ionasescu, R.5
Searby, C.6
-
47
-
-
0026692141
-
Linkage of non-specific X-linked mental retardation to Xq21.31
-
Jedele KB, Michels VV, Schaid DJ, Schowalter KV, Thibodeau SN (1990): Linkage of non-specific X-linked mental retardation to Xq21.31. Am J Med Genet 43:436-442.
-
(1990)
Am J Med Genet
, vol.43
, pp. 436-442
-
-
Jedele, K.B.1
Michels, V.V.2
Schaid, D.J.3
Schowalter, K.V.4
Thibodeau, S.N.5
-
48
-
-
0028787506
-
X-Linked myotubular myopathy: Clinical observations in ten additional cases
-
Joseph M, Pai SG, Holden KR, Herman G (1995): X-Linked myotubular myopathy: Clinical observations in ten additional cases. Am J Med Genet 59:168-173.
-
(1995)
Am J Med Genet
, vol.59
, pp. 168-173
-
-
Joseph, M.1
Pai, S.G.2
Holden, K.R.3
Herman, G.4
-
49
-
-
0026450988
-
X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family
-
Kang WM, Huang CC, Lin SJ (1992): X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family. Am J Med Genet 44:619-23.
-
(1992)
Am J Med Genet
, vol.44
, pp. 619-623
-
-
Kang, W.M.1
Huang, C.C.2
Lin, S.J.3
-
50
-
-
0026749124
-
Localization of non-specific X-linked mental retardation genes
-
Kerr B, Gedeon A, Mulley J, Turner G (1992): Localization of non-specific X-linked mental retardation genes. Am J Med Genet 43:392-401.
-
(1992)
Am J Med Genet
, vol.43
, pp. 392-401
-
-
Kerr, B.1
Gedeon, A.2
Mulley, J.3
Turner, G.4
-
51
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davies KE (1993): Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127-134.
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.L.1
Flannery, A.V.2
Hirst, M.C.3
Campbell, L.4
Christodoulou, Z.5
Phelps, S.R.6
Pointon, J.7
Middleton-Price, H.R.8
Barnicoat, A.9
Pembrey, M.E.10
Holland, J.11
Oostra, B.A.12
Bobrow, M.13
Davies, K.E.14
-
52
-
-
0002554724
-
A new form of X-linked mental retardation (XLMR) linked to DXS369 (RN1)
-
Kondo I, Tsukamoto K, Niikawa N, Okano K, Kanazawa I, Hupkes PE (1991): A new form of X-linked mental retardation (XLMR) linked to DXS369 (RN1). Cytogenet Cell Genet 58:2071.
-
(1991)
Cytogenet Cell Genet
, vol.58
, pp. 2071
-
-
Kondo, I.1
Tsukamoto, K.2
Niikawa, N.3
Okano, K.4
Kanazawa, I.5
Hupkes, P.E.6
-
53
-
-
0027442404
-
Mapping of a gene for non-specific X-linked mental retardation: Evidence for linkage to chromosomal region Xp21.1-Xp22.3
-
Kozak L, Chiurazzi P, Genuardi M, Pomponi MG, Zollino M, Neri G (1993): Mapping of a gene for non-specific X-linked mental retardation: Evidence for linkage to chromosomal region Xp21.1-Xp22.3. J Med Genet 30:866-869.
-
(1993)
J Med Genet
, vol.30
, pp. 866-869
-
-
Kozak, L.1
Chiurazzi, P.2
Genuardi, M.3
Pomponi, M.G.4
Zollino, M.5
Neri, G.6
-
55
-
-
0028091740
-
Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,Xyq-karyotype
-
Lahn BT, Ma N, Breg WR, Stratton R, Surti U, Page DC (1994): Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,Xyq-karyotype. Nature Genet 8:243-250.
-
(1994)
Nature Genet
, vol.8
, pp. 243-250
-
-
Lahn, B.T.1
Ma, N.2
Breg, W.R.3
Stratton, R.4
Surti, U.5
Page, D.C.6
-
56
-
-
25744440653
-
STRP linkage studies in a new family with X-linked mental retardation: Tight linkage to DXS458
-
Lazzarini A, Stenroos ES, Lehner T, McKoy V, Gold B, McCormack MK, Reid CS, Ott J, Johnson WG (1994): STRP linkage studies in a new family with X-linked mental retardation: Tight linkage to DXS458. Am J Hum Genet 55:A192.
-
(1994)
Am J Hum Genet
, vol.55
-
-
Lazzarini, A.1
Stenroos, E.S.2
Lehner, T.3
McKoy, V.4
Gold, B.5
McCormack, M.K.6
Reid, C.S.7
Ott, J.8
Johnson, W.G.9
-
57
-
-
0030580970
-
Refined localization of the Prieto syndrome locus
-
Martínez F, Gal A, Prieto F (1996): Refined localization of the Prieto syndrome locus. Am J Med Genet 64:xx-xx.
-
(1996)
Am J Med Genet
, vol.64
-
-
Martínez, F.1
Gal, A.2
Prieto, F.3
-
58
-
-
0028888936
-
Localization of a gene for X-linked non-specific mental retardation (MRX24) in Xp22.2-p22.3
-
Martínez F, Palau A, Prieto F (1995): Localization of a gene for X-linked non-specific mental retardation (MRX24) in Xp22.2-p22.3. Am J Med Genet 55:387-390.
-
(1995)
Am J Med Genet
, vol.55
, pp. 387-390
-
-
Martínez, F.1
Palau, A.2
Prieto, F.3
-
59
-
-
0029123556
-
Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM
-
May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M, Schwartz C (1995): Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. Hum Mol Genet 4:1465-1466.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1465-1466
-
-
May, M.1
Colleaux, L.2
Murgia, A.3
Aylsworth, A.4
Nussbaum, R.5
Fontes, M.6
Schwartz, C.7
-
60
-
-
0343412332
-
X-linked mental retardation: Linkage results in five unrelated families
-
Moraine C, Dessay B, Toutain A, Briault S, Gendrot C, Ronce N (1994): X-linked mental retardation: linkage results in five unrelated families. Am J Hum Genet 55:A196.
-
(1994)
Am J Hum Genet
, vol.55
-
-
Moraine, C.1
Dessay, B.2
Toutain, A.3
Briault, S.4
Gendrot, C.5
Ronce, N.6
-
61
-
-
0030011778
-
X-linked mental retardation syndrome: Three brothers with the same phenotype as that in Brooks-Wisniewsky-Brown's family
-
Moravá E, Storcz J, Kosztolányi G (1996): X-linked mental retardation syndrome: Three brothers with the same phenotype as that in Brooks-Wisniewsky-Brown's family. Am J Hum Genet 64:59-62.
-
(1996)
Am J Hum Genet
, vol.64
, pp. 59-62
-
-
Moravá, E.1
Storcz, J.2
Kosztolányi, G.3
-
63
-
-
0026771108
-
XLMR genes: Update 1992
-
Neri G, Chiurazzi P, Arena F, Lubs HA, Glass IA (1992): XLMR genes: Update 1992. Am J Med Genet 43:373-382.
-
(1992)
Am J Med Genet
, vol.43
, pp. 373-382
-
-
Neri, G.1
Chiurazzi, P.2
Arena, F.3
Lubs, H.A.4
Glass, I.A.5
-
65
-
-
0026526250
-
Linkage to Xq28 in a family with non-specific X-linked mental retardation
-
Nordström AM, Penttinen M, von Koskull H (1992): Linkage to Xq28 in a family with non-specific X-linked mental retardation. Hum Genet 90:263-266.
-
(1992)
Hum Genet
, vol.90
, pp. 263-266
-
-
Nordström, A.M.1
Penttinen, M.2
Von Koskull, H.3
-
66
-
-
33749773727
-
The Human Genome Database Project
-
Baltimore, MD: John Hopkins University [World Wide Web]
-
Online Mendelian Inheritance in Man (OMIM) (1995): "The Human Genome Database Project." Baltimore, MD: John Hopkins University [World Wide Web].
-
(1995)
Online Mendelian Inheritance in Man (OMIM)
-
-
-
67
-
-
0027419673
-
Severe non-specific X-linked mental retardation caused by a proximally Xp located gene: Intragenic heterogeneity or a new form of X-linked mental retardation
-
Passos-Bueno MR, Byth BC, Rosenberg S, Takata RI, Bakker E, Beggs AH, Pavanello RC, Vainzof M, Davies KE, Zatz M (1993): Severe non-specific X-linked mental retardation caused by a proximally Xp located gene: Intragenic heterogeneity or a new form of X-linked mental retardation. Am J Med Genet 46: 172-175.
-
(1993)
Am J Med Genet
, vol.46
, pp. 172-175
-
-
Passos-Bueno, M.R.1
Byth, B.C.2
Rosenberg, S.3
Takata, R.I.4
Bakker, E.5
Beggs, A.H.6
Pavanello, R.C.7
Vainzof, M.8
Davies, K.E.9
Zatz, M.10
-
68
-
-
0028126564
-
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor
-
Pasteris NG, Cadle A, Logie LJ, Porteous MEM, Schwartz CE, Stevenson RE, Glover TW, Wilroy RS, Gorski JL (1994): Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor. Cell 79:669-678.
-
(1994)
Cell
, vol.79
, pp. 669-678
-
-
Pasteris, N.G.1
Cadle, A.2
Logie, L.J.3
Porteous, M.E.M.4
Schwartz, C.E.5
Stevenson, R.E.6
Glover, T.W.7
Wilroy, R.S.8
Gorski, J.L.9
-
69
-
-
0027283764
-
Physical mapping of DNA markers in the q13-q22 region of the human X chromosome
-
Philippe C, Cremers FPM, Chery M, Bach I, Abbadi N, Ropers HH, Gilgenkrantz S (1993): Physical mapping of DNA markers in the q13-q22 region of the human X chromosome. Genomics 17:147-152.
-
(1993)
Genomics
, vol.17
, pp. 147-152
-
-
Philippe, C.1
Cremers, F.P.M.2
Chery, M.3
Bach, I.4
Abbadi, N.5
Ropers, H.H.6
Gilgenkrantz, S.7
-
70
-
-
13344261391
-
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
-
Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D (1996): Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet 12:241-247.
-
(1996)
Nat Genet
, vol.12
, pp. 241-247
-
-
Pilia, G.1
Hughes-Benzie, R.M.2
MacKenzie, A.3
Baybayan, P.4
Chen, E.Y.5
Huber, R.6
Neri, G.7
Cao, A.8
Forabosco, A.9
Schlessinger, D.10
-
71
-
-
0006186127
-
A new mental retardation syndrome mapping to the pericentromeric region of the X-chromosome
-
Porteous MEM, Johnson H, Burn J, Curtis A, Lindsay S, Bhattacharya SS, Goodship JA (1992): A new mental retardation syndrome mapping to the pericentromeric region of the X-chromosome. Am J Hum Genet 51:A106.
-
(1992)
Am J Hum Genet
, vol.51
-
-
Porteous, M.E.M.1
Johnson, H.2
Burn, J.3
Curtis, A.4
Lindsay, S.5
Bhattacharya, S.S.6
Goodship, J.A.7
-
72
-
-
0026741109
-
New X-linked syndrome with seizures, acquired microcephaly and agenesis of the corpus callosum
-
Proud VK, Levine C, Carpenter NJ (1992): New X-linked syndrome with seizures, acquired microcephaly and agenesis of the corpus callosum. Am J Med Genet 43:458-466.
-
(1992)
Am J Med Genet
, vol.43
, pp. 458-466
-
-
Proud, V.K.1
Levine, C.2
Carpenter, N.J.3
-
73
-
-
0343253990
-
Non-specific mental retardation is probably caused by a microdeletion in Belgian family
-
Raeymaekers P, Lin J, Gu XX, Sockarman D, Cassiman J-J, Fryns J-P, Marynen P (1996): Non-specific mental retardation is probably caused by a microdeletion in Belgian family. Am J Med Genet 64:(A7):15-20.
-
(1996)
Am J Med Genet
, vol.64
, Issue.A7
, pp. 15-20
-
-
Raeymaekers, P.1
Lin, J.2
Gu, X.X.3
Sockarman, D.4
Cassiman, J.-J.5
Fryns, J.-P.6
Marynen, P.7
-
74
-
-
0029887239
-
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1
-
Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault A-D, Moizard M-P, Toutain A, Briault S, Villard L, Ronce N, Moraine C (1996): X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1. Am J Med Genet 64:97-106.
-
(1996)
Am J Med Genet
, vol.64
, pp. 97-106
-
-
Raynaud, M.1
Gendrot, C.2
Dessay, B.3
Moncla, A.4
Ayrault, A.-D.5
Moizard, M.-P.6
Toutain, A.7
Briault, S.8
Villard, L.9
Ronce, N.10
Moraine, C.11
-
75
-
-
0028881136
-
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2
-
Robin NH, Feldman GJ, Aronson AL, Mitchel HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE, Guion-Almeida ML, Martin RA, Leichtman LG, Price A, Opitz JM, Muenke M: (1995): Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nature Genet 11:459-461.
-
(1995)
Nature Genet
, vol.11
, pp. 459-461
-
-
Robin, N.H.1
Feldman, G.J.2
Aronson, A.L.3
Mitchel, H.F.4
Weksberg, R.5
Leonard, C.O.6
Burton, B.K.7
Josephson, K.D.8
Laxova, R.9
Aleck, K.A.10
Allanson, J.E.11
Guion-Almeida, M.L.12
Martin, R.A.13
Leichtman, L.G.14
Price, A.15
Opitz, J.M.16
Muenke, M.17
-
76
-
-
0029893594
-
Further linkage evidence for the localization of mutational sites for non-syndromic types of X-linked mental retardation at the pericentromeric region
-
Robledo R, Melis P, Laficara F, Marchi J, Rinaldi A, Siniscalco M, Filippi G (1996): Further linkage evidence for the localization of mutational sites for non-syndromic types of X-linked mental retardation at the pericentromeric region. Amer J Med Genet 64:107-112.
-
(1996)
Amer J Med Genet
, vol.64
, pp. 107-112
-
-
Robledo, R.1
Melis, P.2
Laficara, F.3
Marchi, J.4
Rinaldi, A.5
Siniscalco, M.6
Filippi, G.7
-
77
-
-
0028916691
-
The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region
-
Ropers HH, Hulsebos TJM, Menko FH, van Oost BA, Lungarotti MS, Arwert F (1995): The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region. Am J Hum Genet 56:1096-1100.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1096-1100
-
-
Ropers, H.H.1
Hulsebos, T.J.M.2
Menko, F.H.3
Van Oost, B.A.4
Lungarotti, M.S.5
Arwert, F.6
-
78
-
-
0026068620
-
Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile X locus (FRAXA)
-
Rousseau F, Vincent A, Rivella S, Heitz D, Triboli C, Maestrini E, Warren ST, Suthers GK, Goodfellow P, Mandel J-L, Tonialo D, Oberlé I (1991): Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile X locus (FRAXA). Am J Hum Genet 48:108-116.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 108-116
-
-
Rousseau, F.1
Vincent, A.2
Rivella, S.3
Heitz, D.4
Triboli, C.5
Maestrini, E.6
Warren, S.T.7
Suthers, G.K.8
Goodfellow, P.9
Mandel, J.-L.10
Tonialo, D.11
Oberlé, I.12
-
79
-
-
0026057775
-
Gene for non-specific X-linked mental retardation maps in the pericentromeric region
-
Samanns C, Albrecht R, Neugebauer M, Neri G, Gal A (1991): Gene for non-specific X-linked mental retardation maps in the pericentromeric region. Am J Med Genet 38:224-227.
-
(1991)
Am J Med Genet
, vol.38
, pp. 224-227
-
-
Samanns, C.1
Albrecht, R.2
Neugebauer, M.3
Neri, G.4
Gal, A.5
-
80
-
-
0029076864
-
Genetic linkage heterogeneity in myotubular myopathy
-
Samson F, Mesnard L, Heimburger M, Hanauer A, Chevallay M, Mercadier JJ, Pelissier JF, Feingold N, Junien C, Mandel J-L, Fardeau M (1995): Genetic linkage heterogeneity in myotubular myopathy. Am J Hum Genet 57:120-126.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 120-126
-
-
Samson, F.1
Mesnard, L.2
Heimburger, M.3
Hanauer, A.4
Chevallay, M.5
Mercadier, J.J.6
Pelissier, J.F.7
Feingold, N.8
Junien, C.9
Mandel, J.-L.10
Fardeau, M.11
-
81
-
-
0027440973
-
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)
-
Saugier-Veber P, Abadie V, Moncla A, Mathieu M, Piussan C, Turleau C, Mattei JF, Munnich A, Lyonnet S (1993): The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). Am J Hum Genet 52:1040-1045.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1040-1045
-
-
Saugier-Veber, P.1
Abadie, V.2
Moncla, A.3
Mathieu, M.4
Piussan, C.5
Turleau, C.6
Mattei, J.F.7
Munnich, A.8
Lyonnet, S.9
-
82
-
-
0028239867
-
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
-
Saugier-Veber P, Munnich A, Bonneau D, Rozet J-M, LeMerrer M, Gil R, Boespflug-Tanguy O (1994): X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet 6:257-262.
-
(1994)
Nature Genet
, vol.6
, pp. 257-262
-
-
Saugier-Veber, P.1
Munnich, A.2
Bonneau, D.3
Rozet, J.-M.4
LeMerrer, M.5
Gil, R.6
Boespflug-Tanguy, O.7
-
83
-
-
0027291742
-
A high resolution deletion map of human chromosome Xp22
-
Schaefer L, Ferrero GB, Grillo A, Bassi MT, Roth EJ, Wapenaar MC, Ommen GJB, Mohandas TK, Rocci M, Zoghbi HY, Ballabio A (1993): A high resolution deletion map of human chromosome Xp22. Nature Genet 4:272-279.
-
(1993)
Nature Genet
, vol.4
, pp. 272-279
-
-
Schaefer, L.1
Ferrero, G.B.2
Grillo, A.3
Bassi, M.T.4
Roth, E.J.5
Wapenaar, M.C.6
Ommen, G.J.B.7
Mohandas, T.K.8
Rocci, M.9
Zoghbi, H.Y.10
Ballabio, A.11
-
84
-
-
0029891633
-
Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13
-
Schutz CK, Ives EJ, Chalifoux M, McLaren L, Farrell S, Robinson PD, White BN, Holden JJA (1996): Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13. Am J Med Genet 64:89-96.
-
(1996)
Am J Med Genet
, vol.64
, pp. 89-96
-
-
Schutz, C.K.1
Ives, E.J.2
Chalifoux, M.3
McLaren, L.4
Farrell, S.5
Robinson, P.D.6
White, B.N.7
Holden, J.J.A.8
-
85
-
-
2542578196
-
Renpenning syndrome: Evidence for pericentric location of the gene in two families, including the original Renpenning family
-
Paper presented at the August, Palm Cove, Australia
-
Schwartz CE, Ouzts L, Gibson A, Cadle R, Arena JF, Boyd E, Hall B, Lubs HA, Stevenson RE (1993): Renpenning syndrome: Evidence for pericentric location of the gene in two families, including the original Renpenning family. Paper presented at the 6th International Workshop on Fragile X and X-Linked Mental Retardation. August, Palm Cove, Australia.
-
(1993)
6th International Workshop on Fragile X and X-Linked Mental Retardation
-
-
Schwartz, C.E.1
Ouzts, L.2
Gibson, A.3
Cadle, R.4
Arena, J.F.5
Boyd, E.6
Hall, B.7
Lubs, H.A.8
Stevenson, R.E.9
-
86
-
-
0026663561
-
MRX8: X-linked mental retardation with linkage to Xq21
-
Schwartz CE, May M, Huang T, Ledbetter D, Anderson G, Barker DF, Lubs HA, Arena F, Stevenson RE (1992): MRX8: X-linked mental retardation with linkage to Xq21. Am J Med Genet 43:467-474.
-
(1992)
Am J Med Genet
, vol.43
, pp. 467-474
-
-
Schwartz, C.E.1
May, M.2
Huang, T.3
Ledbetter, D.4
Anderson, G.5
Barker, D.F.6
Lubs, H.A.7
Arena, F.8
Stevenson, R.E.9
-
87
-
-
0025868724
-
X-linked syndrome: Mental retardation, hip luxation and G6PD variant (Gd (+) Butantan)
-
Stocco dos Santos RC, Barreto OCO, Nonoyama K, Castro NHC, Moura JW, Ferraz OP, Walter-Moura J, Vescio CCS, Becak (1991): X-linked syndrome: Mental retardation, hip luxation and G6PD variant (Gd (+) Butantan). Am J Med Genet 39:133-136.
-
(1991)
Am J Med Genet
, vol.39
, pp. 133-136
-
-
Stocco Dos Santos, R.C.1
Barreto, O.C.O.2
Nonoyama, K.3
Castro, N.H.C.4
Moura, J.W.5
Ferraz, O.P.6
Walter-Moura, J.7
Vescio, C.C.S.8
Becak9
-
88
-
-
0026322752
-
New X-linked syndrome of mental retardation, short stature and hypertelorism
-
Stoll C, Gerauldel A, Chauvin A (1991): New X-linked syndrome of mental retardation, short stature and hypertelorism. Am J Med Genet 39:474-478.
-
(1991)
Am J Med Genet
, vol.39
, pp. 474-478
-
-
Stoll, C.1
Gerauldel, A.2
Chauvin, A.3
-
89
-
-
0024500528
-
Recurrent myoglobinuria in a child with mental retardation: Phosphoglycerate kinase deficiency
-
Sugie H, Sugie Y, Nishida M, Ito M, Tsurui S, Suzuki M, Miyamoto R, Igarashi Y (1989): Recurrent myoglobinuria in a child with mental retardation: Phosphoglycerate kinase deficiency. J Child Neurol 4:95-99.
-
(1989)
J Child Neurol
, vol.4
, pp. 95-99
-
-
Sugie, H.1
Sugie, Y.2
Nishida, M.3
Ito, M.4
Tsurui, S.5
Suzuki, M.6
Miyamoto, R.7
Igarashi, Y.8
-
90
-
-
0023766711
-
A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS15
-
Suthers GK, Turner G, Mulley JC (1988): A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS15. Am J Med Genet 30:485-491.
-
(1988)
Am J Med Genet
, vol.30
, pp. 485-491
-
-
Suthers, G.K.1
Turner, G.2
Mulley, J.C.3
-
91
-
-
0026089272
-
Mental retardation, acromegalic face and megalotestes in two half-brothers: A specific form of X-linked mental retardation without fra(X)(q)?
-
Tariverdian G, Froster-Iskenius U, Deuschl G, Wolff G (1991): Mental retardation, acromegalic face and megalotestes in two half-brothers: A specific form of X-linked mental retardation without fra(X)(q)? Am J Med Genet 38:208-211.
-
(1991)
Am J Med Genet
, vol.38
, pp. 208-211
-
-
Tariverdian, G.1
Froster-Iskenius, U.2
Deuschl, G.3
Wolff, G.4
-
92
-
-
0024818305
-
Translocations X-autosomes equilibrees et retard mental
-
Teboul M, Mujica P, Chery M, Leotard B, Gilgenkrantz S (1989): Translocations X-autosomes equilibrees et retard mental. J Génét Hum 37:179-195.
-
(1989)
J Génét Hum
, vol.37
, pp. 179-195
-
-
Teboul, M.1
Mujica, P.2
Chery, M.3
Leotard, B.4
Gilgenkrantz, S.5
-
93
-
-
0026718142
-
New X-linked syndrome with apraxia, ataxia and mental deficiency: Clinical, cyto genetic and neuropsychological studies in two Danish families
-
Tranebjaerg L, Lou H, Andresen J (1992): New X-linked syndrome with apraxia, ataxia and mental deficiency: Clinical, cyto genetic and neuropsychological studies in two Danish families. Am J Med Genet 43:498-504.
-
(1992)
Am J Med Genet
, vol.43
, pp. 498-504
-
-
Tranebjaerg, L.1
Lou, H.2
Andresen, J.3
-
94
-
-
2542569104
-
Cloning of a candidate gene for X-linked mental retardation in Xq13.1
-
van der Maarel SM, Rohme D, Bach I, Gilgenkranz S, Weghuis OS, Kere J, Cremers FPM, Ropers H-H (1994): Cloning of a candidate gene for X-linked mental retardation in Xq13.1. Cytogent Cell Genet 67:349.
-
(1994)
Cytogent Cell Genet
, vol.67
, pp. 349
-
-
Van Der Maarel, S.M.1
Rohme, D.2
Bach, I.3
Gilgenkranz, S.4
Weghuis, O.S.5
Kere, J.6
Cremers, F.P.M.7
Ropers, H.-H.8
-
95
-
-
2542588968
-
Cloning of candidate genes for X-linked mental retardation by use of chromosome aberrations
-
van der Maarel SM, Scholten I, Weghuis OS, Huber I, Rohme D, Gilgenkrantz S, Kere J, Fryns J-P, Abeliovich D, Smits A, Cremers F, Ropers H-H (1996): Cloning of candidate genes for X-linked mental retardation by use of chromosome aberrations. Am J Med Genet 64:(A21):15-20.
-
(1996)
Am J Med Genet
, vol.64
, Issue.A21
, pp. 15-20
-
-
Van Der Maarel, S.M.1
Scholten, I.2
Weghuis, O.S.3
Huber, I.4
Rohme, D.5
Gilgenkrantz, S.6
Kere, J.7
Fryns, J.-P.8
Abeliovich, D.9
Smits, A.10
Cremers, F.11
Ropers, H.-H.12
-
96
-
-
0018305178
-
X-linked hypogonadism, gynecomastia, mental retardation short stature and obesity - A new syndrome
-
Vasquez SB, Hurst DL, Sotos JF (1979): X-linked hypogonadism, gynecomastia, mental retardation short stature and obesity - a new syndrome. J Pediatr 94:56-60.
-
(1979)
J Pediatr
, vol.94
, pp. 56-60
-
-
Vasquez, S.B.1
Hurst, D.L.2
Sotos, J.F.3
-
97
-
-
0030043739
-
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha thalassemia
-
Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontes M (1996): Splicing mutation in the ATR-X gene can lead to a dysmorphic 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
Fontes, M.7
-
98
-
-
0030115629
-
XNP mutation in a large family with Juberg-Marsidi syndrome
-
Villard L, Gecz J, Mattei JF, Fontes M, Saugier-Veber P, Munnich A, Lyonnet S (1996): XNP 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
Gecz, J.2
Mattei, J.F.3
Fontes, M.4
Saugier-Veber, P.5
Munnich, A.6
Lyonnet, S.7
-
99
-
-
0025605420
-
Corpus callosum agenesis, spastic quadriparesis and irregular lining of the lateral ventricles on CT-scan. A distinct X-linked mental retardation syndrome?
-
Vles JSH, Fryns JP, Folmer K, Boon P, Buttiens M, Grubben C, Janevski B (1990): Corpus callosum agenesis, spastic quadriparesis and irregular lining of the lateral ventricles on CT-scan. A distinct X-linked mental retardation syndrome? Genet Counsel 38:97-102.
-
(1990)
Genet Counsel
, vol.38
, pp. 97-102
-
-
Vles, J.S.H.1
Fryns, J.P.2
Folmer, K.3
Boon, P.4
Buttiens, M.5
Grubben, C.6
Janevski, B.7
-
100
-
-
0028916691
-
The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region
-
Wijker M, Ligtenberg MJL, Schoute F, Defesche JC, Pals G, Bolhuis PA, Ropers HH, Hulsebos TJM, Menko FH, van Oost BA, Lungarotti MS, Arwert F (1995): The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region. Am J Hum Genet 56:1096-1100.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1096-1100
-
-
Wijker, M.1
Ligtenberg, M.J.L.2
Schoute, F.3
Defesche, J.C.4
Pals, G.5
Bolhuis, P.A.6
Ropers, H.H.7
Hulsebos, T.J.M.8
Menko, F.H.9
Van Oost, B.A.10
Lungarotti, M.S.11
Arwert, F.12
-
101
-
-
0344029807
-
Localization of a gene responsible for non-specific mental retardation to Xp11-q21
-
Willems PJ, Vits L, Buntinx I, Raeymaekers P, Van Broeckhoven C, Ceulemans B (1991): Localization of a gene responsible for non-specific mental retardation to Xp11-q21. Cytogenet Cell Genet 58:2090.
-
(1991)
Cytogenet Cell Genet
, vol.58
, pp. 2090
-
-
Willems, P.J.1
Vits, L.2
Buntinx, I.3
Raeymaekers, P.4
Van Broeckhoven, C.5
Ceulemans, B.6
-
102
-
-
0025826768
-
New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255
-
Wilson M, Mulley J, Gedeon A, Robinson H, Turner G (1991): New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. Am J Med Genet 40:406-413.
-
(1991)
Am J Med Genet
, vol.40
, pp. 406-413
-
-
Wilson, M.1
Mulley, J.2
Gedeon, A.3
Robinson, H.4
Turner, G.5
-
103
-
-
0029892648
-
Gene of a new X-linked mental retardation syndrome maps in Xp22.3
-
Wittwer B, Kircheisen R, Leutelt J, Orth U, Gal A (1996): Gene of a new X-linked mental retardation syndrome maps in Xp22.3. Am J Med Genet 64:42-49.
-
(1996)
Am J Med Genet
, vol.64
, pp. 42-49
-
-
Wittwer, B.1
Kircheisen, R.2
Leutelt, J.3
Orth, U.4
Gal, A.5
-
104
-
-
0019960192
-
Sex-linked mental retardation, short stature, obesity and hypogonadism: Report of a family
-
Young ID, Hughes HE (1982): Sex-linked mental retardation, short stature, obesity and hypogonadism: Report of a family. J Mental Defic Res 26:153-162.
-
(1982)
J Mental Defic Res
, vol.26
, pp. 153-162
-
-
Young, I.D.1
Hughes, H.E.2
-
105
-
-
0026637344
-
A new XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria
-
Zollino M, Mastroiacovo P, Zampino G, Mariotti P, Neri G (1992): A new XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria. Am J Med Genet 43: 452-457.
-
(1992)
Am J Med Genet
, vol.43
, pp. 452-457
-
-
Zollino, M.1
Mastroiacovo, P.2
Zampino, G.3
Mariotti, P.4
Neri, G.5
|