-
1
-
-
19144373095
-
The FRAXE Syndrome: Is it time for routine screening?
-
W.T. Brown The FRAXE Syndrome: Is it time for routine screening? Am. J. Hum. Genet. 58 1996 903
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 903
-
-
Brown, W.T.1
-
2
-
-
0030735130
-
Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles
-
T.C. Brown, J.C. Tarleton, R.C.P. Go, J.W. Longshore, and M. Descartes Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles Am. J. Med. Genet. 73 1997 447 455
-
(1997)
Am. J. Med. Genet.
, vol.73
, pp. 447-455
-
-
Brown, T.C.1
Tarleton, J.C.2
Go, R.C.P.3
Longshore, J.W.4
Descartes, M.5
-
3
-
-
33644976311
-
Mutation screening in Borjeson-Forssman-Lehmann Syndrome (BFLS): Identification of a novel, de novo PHF6 mutation in a female patient
-
(Epub ahead of print).
-
J. Crawford, K.M. Lower, R.C. Hennekam, H. Van Esch, A. Megarbane, S.A. Lynch, G. Turner, J. Gecz, Mutation screening in Borjeson-Forssman-Lehmann Syndrome (BFLS): identification of a novel, de novo PHF6 mutation in a female patient, J. Med. Genet. 25 (2005) (Epub ahead of print).
-
(2005)
J. Med. Genet.
, vol.25
-
-
Crawford, J.1
Lower, K.M.2
Hennekam, R.C.3
Van Esch, H.4
Megarbane, A.5
Lynch, S.A.6
Turner, G.7
Gecz, J.8
-
4
-
-
0033915841
-
The FMR2 gene, FRAXE and non-specific X-linked mental retardation: Clinical and molecular aspects
-
J. Gécz The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects Ann. Hum. Genet. 64 2000 95 106
-
(2000)
Ann. Hum. Genet.
, vol.64
, pp. 95-106
-
-
Gécz, J.1
-
5
-
-
0033790152
-
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
-
J. Gécz FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations J. Med. Genet. 37 2000 782 784
-
(2000)
J. Med. Genet.
, vol.37
, pp. 782-784
-
-
Gécz, J.1
-
6
-
-
0029945363
-
Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities
-
J.J.A. Holden, C. Julien-Inalsingh, M. Chalifoux, M. Wing, E. Scott, K. Fidler, I. Swift, B. Maidment, S.J.L. Knight, K.E. Davies, and B.N. White Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities Am. J. Med. Genet. 64 1996 420 423
-
(1996)
Am. J. Med. Genet.
, vol.64
, pp. 420-423
-
-
Holden, J.J.A.1
Julien-Inalsingh, C.2
Chalifoux, M.3
Wing, M.4
Scott, E.5
Fidler, K.6
Swift, I.7
Maidment, B.8
Knight, S.J.L.9
Davies, K.E.10
White, B.N.11
-
7
-
-
0031802658
-
The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay
-
M.M. Mazzocco, G.F. Myers, J.L. Hammer, R. Panoscha, B.K. Shapiro, and A.L. Reiss The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay J. Pediatr. 132 1998 795 801
-
(1998)
J. Pediatr.
, vol.132
, pp. 795-801
-
-
Mazzocco, M.M.1
Myers, G.F.2
Hammer, J.L.3
Panoscha, R.4
Shapiro, B.K.5
Reiss, A.L.6
-
8
-
-
0032826352
-
Microdeletions in FMR2 may be a significant cause of premature ovarian failure
-
A. Murray, J. Webb, N. Dennis, G. Conway, and N. Morton Microdeletions in FMR2 may be a significant cause of premature ovarian failure J. Med. Genet. 36 1999 767 770
-
(1999)
J. Med. Genet.
, vol.36
, pp. 767-770
-
-
Murray, A.1
Webb, J.2
Dennis, N.3
Conway, G.4
Morton, N.5
-
9
-
-
0034897807
-
A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males
-
C.B. Santos, M.A. Costa Lima, and M.M.G. Pimentel A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males Human Mut. 18 2001 157 162
-
(2001)
Human Mut.
, vol.18
, pp. 157-162
-
-
Santos, C.B.1
Costa Lima, M.A.2
Pimentel, M.M.G.3
-
10
-
-
0034130169
-
FRAXA and FRAXE: The results of a five year survey
-
S.A. Youings, A. Murray, N. Dennis, S. Ennis, C. Lewis, N. McKechnie, M. Pound, A. Sharrock, and P. Jacobs FRAXA and FRAXE: the results of a five year survey J. Med. Genet. 37 2000 415 421
-
(2000)
J. Med. Genet.
, vol.37
, pp. 415-421
-
-
Youings, S.A.1
Murray, A.2
Dennis, N.3
Ennis, S.4
Lewis, C.5
McKechnie, N.6
Pound, M.7
Sharrock, A.8
Jacobs, P.9
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