-
1
-
-
0029029547
-
FRAXE expansion is not a common etiological factor among developmentally delayed males
-
Allingham-Hawkins DJ, Ray PN (1995): FRAXE expansion is not a common etiological factor among developmentally delayed males. Am J Hum Genet 56:72-76.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 72-76
-
-
Allingham-Hawkins, D.J.1
Ray, P.N.2
-
3
-
-
0026777140
-
Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype
-
Dennis NR, Curtis G, Macpherson JN, Jacobs PA (1992): Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype. Am J Med Genet 43:232-236.
-
(1992)
Am J Med Genet
, vol.43
, pp. 232-236
-
-
Dennis, N.R.1
Curtis, G.2
Macpherson, J.N.3
Jacobs, P.A.4
-
4
-
-
0027522796
-
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation
-
Flynn GA, Hirst MC, Knight SJL, MacPherson JN, Barber JCK, Flannery AV, Davies KE, Buckle VJ (1993): Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. J Med Genet 30:97-103.
-
(1993)
J Med Genet
, vol.30
, pp. 97-103
-
-
Flynn, G.A.1
Hirst, M.C.2
Knight, S.J.L.3
MacPherson, J.N.4
Barber, J.C.K.5
Flannery, A.V.6
Davies, K.E.7
Buckle, V.J.8
-
5
-
-
0028937577
-
Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE
-
Gedeon AK, Keinanen M, Ades LC, Kaariainen H, Gecz J, Baker E, Sutherland GR, Mulley JC (1995): Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE. Am J Hum Genet 56: 907-914.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 907-914
-
-
Gedeon, A.K.1
Keinanen, M.2
Ades, L.C.3
Kaariainen, H.4
Gecz, J.5
Baker, E.6
Sutherland, G.R.7
Mulley, J.C.8
-
6
-
-
0027968066
-
Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data
-
Hamel BCJ, Smits APT, de Graaff E, Smeets DFCM, Schoute F, Eussen BHJ, Knight SJL, Davies KE, Assman-Hulsmans CFCH, Oostra BA (1994): Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data. Am J Hum Genet 55:923-931.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 923-931
-
-
Hamel, B.C.J.1
Smits, A.P.T.2
De Graaff, E.3
Smeets, D.F.C.M.4
Schoute, F.5
Eussen, B.H.J.6
Knight, S.J.L.7
Davies, K.E.8
Assman-Hulsmans, C.F.C.H.9
Oostra, B.A.10
-
7
-
-
0029549971
-
Distribution and frequency of FMR1 CGG repeat number in institutionalized developmentally disabled individuals
-
Holden JJA, Chalifoux M, Wing M, Julien-Inalsingh C, Scott E, Fidler K, Swift I, Maidment B, Lawson JS, White BN (1995): Distribution and frequency of FMR1 CGG repeat number in institutionalized developmentally disabled individuals. Dev Brain Dysfunct 8: 302-309.
-
(1995)
Dev Brain Dysfunct
, vol.8
, pp. 302-309
-
-
Holden, J.J.A.1
Chalifoux, M.2
Wing, M.3
Julien-Inalsingh, C.4
Scott, E.5
Fidler, K.6
Swift, I.7
Maidment, B.8
Lawson, J.S.9
White, B.N.10
-
8
-
-
0029931538
-
A rapid, reliable and inexpensive method for detection of di- And trinucleotide repeat marker and disease loci from dried blood spots
-
Holden JJA, Chalifoux M, Wing M, Julien-Inalsingh C, White BN (1996): A rapid, reliable and inexpensive method for detection of di- and trinucleotide repeat marker and disease loci from dried blood spots. Am J Med Genet 64:313-318.
-
(1996)
Am J Med Genet
, vol.64
, pp. 313-318
-
-
Holden, J.J.A.1
Chalifoux, M.2
Wing, M.3
Julien-Inalsingh, C.4
White, B.N.5
-
9
-
-
0027203684
-
Trinucleotide repeat amplifications 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, Barnicot A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davies K (1993): Trinucleotide repeat amplifications 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
Barnicot, A.9
Pembrey, M.E.10
Holland, J.11
Oostra, B.A.12
Bobrow, M.13
Davies, K.14
-
10
-
-
0027991895
-
Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap
-
Knight SJL, Voelckel MA, Hirst MC, Flannery AV, Moncla A, Davies KE (1994): Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am J Hum Genet 55:81-86.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 81-86
-
-
Knight, S.J.L.1
Voelckel, M.A.2
Hirst, M.C.3
Flannery, A.V.4
Moncla, A.5
Davies, K.E.6
-
11
-
-
0028933941
-
FRAXE and mental retardation
-
Mulley JC, Yu S, Loesch DZ, Hay DA, Donnelly A, Gedeon AK, Carbonell P, Lopez I, Glover G, Gabarron I, Yu PWL, Baker E, Haan EA, Hockey A, Knight SJL, Davies KE, Richards RI, Sutherland GR (1995): FRAXE and mental retardation. J Med Genet 32: 162-169.
-
(1995)
J Med Genet
, vol.32
, pp. 162-169
-
-
Mulley, J.C.1
Yu, S.2
Loesch, D.Z.3
Hay, D.A.4
Donnelly, A.5
Gedeon, A.K.6
Carbonell, P.7
Lopez, I.8
Glover, G.9
Gabarron, I.10
Yu, P.W.L.11
Baker, E.12
Haan, E.A.13
Hockey, A.14
Knight, S.J.L.15
Davies, K.E.16
Richards, R.I.17
Sutherland, G.R.18
-
12
-
-
0028099702
-
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
-
Parrish JE, Oostra BA, Verkerk AJMH, Richards CS, Reynolds J, Spikes AS, Shaffer LG, Nelson DL (1994): Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nature Genet 8:229-239.
-
(1994)
Nature Genet
, vol.8
, pp. 229-239
-
-
Parrish, J.E.1
Oostra, B.A.2
Verkerk, A.J.M.H.3
Richards, C.S.4
Reynolds, J.5
Spikes, A.S.6
Shaffer, L.G.7
Nelson, D.L.8
-
13
-
-
0026767610
-
Dynamic mutations: A new class of mutations causing human disease
-
Richards RI, Sutherland GR (1992): Dynamic mutations: A new class of mutations causing human disease. Cell 70:709-712.
-
(1992)
Cell
, vol.70
, pp. 709-712
-
-
Richards, R.I.1
Sutherland, G.R.2
-
14
-
-
84970050019
-
Human genes containing polymorphic trinucleotide repeats
-
Riggins GJ, Lokey LK, Chastain JL, Reiner HA, Sherman SL, Wilkinson KD, Warren ST (1992):Human genes containing polymorphic trinucleotide repeats. Nature Genet 2:186-191.
-
(1992)
Nature Genet
, vol.2
, pp. 186-191
-
-
Riggins, G.J.1
Lokey, L.K.2
Chastain, J.L.3
Reiner, H.A.4
Sherman, S.L.5
Wilkinson, K.D.6
Warren, S.T.7
-
15
-
-
0028567730
-
The cloning of FRAXF: Trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter
-
Ritchie RJ, Knight SJL, Hirst MC, Grewal PK, Bobrow M, Cross GS, Davies KE (1994): The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Hum Mol Genet 3:2115-2121.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2115-2121
-
-
Ritchie, R.J.1
Knight, S.J.L.2
Hirst, M.C.3
Grewal, P.K.4
Bobrow, M.5
Cross, G.S.6
Davies, K.E.7
|