-
1
-
-
0031710557
-
PAK-3 mutation in nonsyndromic X-linked mental retardation
-
ALLEN, K.M., GLEESON, J.G., BAGRODIA, S., PARTINGTON, M.W., MACMILLAN, J.C., CERIONE, R.A., MULLEY, J.C., and WALSH, C.A. (1998). PAK-3 mutation in nonsyndromic X-linked mental retardation. Nature Genet. 20, 25-30.
-
(1998)
Nature Genet.
, vol.20
, pp. 25-30
-
-
Allen, K.M.1
Gleeson, J.G.2
Bagrodia, S.3
Partington, M.W.4
Macmillan, J.C.5
Cerione, R.A.6
Mulley, J.C.7
Walsh, C.A.8
-
2
-
-
0033377881
-
A survey of fragile X syndrome in a sample from Spanish Basque country
-
ARRIETA, I., CRIADO, B., MARTINEZ, B., TELEZ, M., NUÑEZ, T., PENAGARIKANO, O., ORTEGA, B., and LOSTAO, C.M. (1999). A survey of fragile X syndrome in a sample from Spanish Basque country. Ann. Genet. 42, 197-201.
-
(1999)
Ann. Genet.
, vol.42
, pp. 197-201
-
-
Arrieta, I.1
Criado, B.2
Martinez, B.3
Telez, M.4
Nuñez, T.5
Penagarikano, O.6
Ortega, B.7
Lostao, C.M.8
-
3
-
-
0027738631
-
Screening for cystic fibrosis in dried blood spots of newborns
-
AUDREZET, M.P., COSTES, B., GHANEM, N., FANEN, P., VERLINGUE, C., MORIN, J.F., MERCIER, B., GOOSSENS, M., and FÉREC, C. (1993). Screening for cystic fibrosis in dried blood spots of newborns. Mol. Cell Probes 76, 497-502.
-
(1993)
Mol. Cell Probes
, vol.76
, pp. 497-502
-
-
Audrezet, M.P.1
Costes, B.2
Ghanem, N.3
Fanen, P.4
Verlingue, C.5
Morin, J.F.6
Mercier, B.7
Goossens, M.8
Férec, C.9
-
4
-
-
0034092029
-
Absence of fragile X syndrome in Nova Scotia
-
BERESFORD, R.G., TATLIDIL, C., RIDDELL, D.C., WEELCH, J.P., LUDMAN, M.D., NEUMANN, P.E., and GREER, W.L. (2000). Absence of fragile X syndrome in Nova Scotia. J. Med. Genet. 37, 77-79.
-
(2000)
J. Med. Genet.
, vol.37
, pp. 77-79
-
-
Beresford, R.G.1
Tatlidil, C.2
Riddell, D.C.3
Weelch, J.P.4
Ludman, M.D.5
Neumann, P.E.6
Greer, W.L.7
-
5
-
-
0033755797
-
Fragile X syndrome screening: A current opinion
-
CHIURAZZI, P., and NERI, J. (2000). Fragile X syndrome screening: A current opinion. Commun. Genet. 3, 38-40.
-
(2000)
Commun. Genet.
, vol.3
, pp. 38-40
-
-
Chiurazzi, P.1
Neri, J.2
-
6
-
-
0035746538
-
FMR1 and the fragile X syndrome: Human genome epidemiology review
-
CRAWFORD, D.C., ACUÑA, J.M., and SHERMAN, S.L. (2001). FMR1 and the fragile X syndrome: Human genome epidemiology review. Genet. Med. 3, 359-371.
-
(2001)
Genet. Med.
, vol.3
, pp. 359-371
-
-
Crawford, D.C.1
Acuña, J.M.2
Sherman, S.L.3
-
7
-
-
0028858268
-
Frequency of FMR1 permutations in a consecutive newborn population by PCR screening of Guthrie blood spots
-
DAWSON, A.J., CHODIRKER, B.N., and CHUDLEY, A.E. (1995). Frequency of FMR1 permutations in a consecutive newborn population by PCR screening of Guthrie blood spots. Biochem Mol. Med. 56, 63-69.
-
(1995)
Biochem Mol. Med.
, vol.56
, pp. 63-69
-
-
Dawson, A.J.1
Chodirker, B.N.2
Chudley, A.E.3
-
8
-
-
0037084852
-
Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
-
DOMBROWSKI, C., LÉVESQUE, S., MOREL, M.L., ROUILLARD, P., MORGAN, K., and ROUSSEAU, F. (2002). Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum. Mol. Genet. 11, 371-378.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 371-378
-
-
Dombrowski, C.1
Lévesque, S.2
Morel, M.L.3
Rouillard, P.4
Morgan, K.5
Rousseau, F.6
-
9
-
-
0031038239
-
Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype
-
FALIK-ZACCAI, T.C., SHACHAK, E., YALON, M., LIS, Z., BOROCHOWITZ, Z., MACPHERSON, J.N., NELSON, D.L., and EICHELER, E.E. (1997). Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype. Am. J. Hum. Genet. 60, 103-112.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 103-112
-
-
Falik-Zaccai, T.C.1
Shachak, E.2
Yalon, M.3
Lis, Z.4
Borochowitz, Z.5
Macpherson, J.N.6
Nelson, D.L.7
Eicheler, E.E.8
-
10
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman Paradox
-
FU, Y.H., KUHL, P.A., PIZUTTI, A., PIERETTI, M., SUTCLIFFE, J.S., RICHARDS, S., VERKERK, A.J.M.H., HOLDEN, J.A., FENWIK, R.G., WARREN, S.T., ZHANG, F., OOSTRA, B.A., CASKEY, C.T., and NELSON, D. (1991). Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman Paradox. Cell 67, 1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, P.A.2
Pizutti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.M.H.7
Holden, J.A.8
Fenwik, R.G.9
Warren, S.T.10
Zhang, F.11
Oostra, B.A.12
Caskey, C.T.13
Nelson, D.14
-
11
-
-
0029556239
-
Distribution and frequency of FMR1 CGG repeat numbers in the general population
-
HOLDEN, J.J.A., CHALIFOUX, M., WING, M., JULIEN-INALSINGH, C., LAWSON, J.S., HIGGINS, J.V., SHERMAN, S., and WHITE, B.N. (1995). Distribution and frequency of FMR1 CGG repeat numbers in the general population. Dev. Brain Dysfunct. 8, 405-407.
-
(1995)
Dev. Brain Dysfunct.
, vol.8
, pp. 405-407
-
-
Holden, J.J.A.1
Chalifoux, M.2
Wing, M.3
Julien-Inalsingh, C.4
Lawson, J.S.5
Higgins, J.V.6
Sherman, S.7
White, B.N.8
-
12
-
-
0027173002
-
Population studies of the fragile X: A molecular approach
-
JACOBS, P.A., BULLMAN, H., MACPHERSON, J., YOUINGS, S., ROONEY, V., WATSON, A., and DENNIS, N.R. (1993). Population studies of the fragile X: a molecular approach. J. Med. Genet. 30, 454-459.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 454-459
-
-
Jacobs, P.A.1
Bullman, H.2
Macpherson, J.3
Youings, S.4
Rooney, V.5
Watson, A.6
Dennis, N.R.7
-
13
-
-
0027203684
-
Trinucleotide repeat amplification and hyper methylation of CpG island in FRAXE mental retardation
-
KNIGHT, J., FLANNERY, A.V., HIRST, M.C., CAMPBELL, L., CHRISTODOULOU, S.R., PHELPS, S.R., POINTON, J., MIDDLETON-PRICE, H.R., BARNICOAT, A., and PEMBREY, M.E. (1993). Trinucleotide repeat amplification and hyper methylation of CpG island in FRAXE mental retardation. Cell 74, 127-134.
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, J.1
Flannery, A.V.2
Hirst, M.C.3
Campbell, L.4
Christodoulou, S.R.5
Phelps, S.R.6
Pointon, J.7
Middleton-Price, H.R.8
Barnicoat, A.9
Pembrey, M.E.10
-
14
-
-
19144367229
-
FMR1 in global populations
-
KUNST, C.B., ZERYLNICK, C., KARICKHOFF, L., EICHLER, E., BULLARD, J., CHALIFOUX, M., HOLDEN, J.J., TORRONI, A., NELSON, D.L., and WARREN, S.T. (1996). FMR1 in global populations. Am. J. Hum. Gernet. 58, 513-522.
-
(1996)
Am. J. Hum. Gernet.
, vol.58
, pp. 513-522
-
-
Kunst, C.B.1
Zerylnick, C.2
Karickhoff, L.3
Eichler, E.4
Bullard, J.5
Chalifoux, M.6
Holden, J.J.7
Torroni, A.8
Nelson, D.L.9
Warren, S.T.10
-
15
-
-
0029893264
-
Frequency of Fragile X syndrome among institutionalized mentally retarded males in Poland
-
MAZURCZAK, T., BOCIAN, E., MILEWSKI, M., OBERSZTYN, E., STANCZAK, H., BAL, J., SZAMOTULSKA, K., and KARWACKI, M.W. (1996). Frequency of Fragile X syndrome among institutionalized mentally retarded males in Poland. Am. J. Med. Genet. 64, 184-186.
-
(1996)
Am. J. Med. Genet.
, vol.64
, pp. 184-186
-
-
Mazurczak, T.1
Bocian, E.2
Milewski, M.3
Obersztyn, E.4
Stanczak, H.5
Bal, J.6
Szamotulska, K.7
Karwacki, M.W.8
-
16
-
-
0028025220
-
Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families
-
MILÀ, M., KRUYER, H., GLOVER, G., SÁNCHEZ, A., CARBONELL, P., CASTELLVÍ-BEL, S., VOLPINI, V., ROSELL, J., GABARRÓN, J., LÓPEZ, I., VILLA, M., BALLESTA, F., and ESTIVILL, X. (1994). Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families. Hum. Genet. 94, 395-400.
-
(1994)
Hum. Genet.
, vol.94
, pp. 395-400
-
-
Milà, M.1
Kruyer, H.2
Glover, G.3
Sánchez, A.4
Carbonell, P.5
Castellví-Bel, S.6
Volpini, V.7
Rosell, J.8
Gabarrón, J.9
López, I.10
Villa, M.11
Ballesta, F.12
Estivill, X.13
-
17
-
-
2642615360
-
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: Identification of a case of FRAXE-associated mental retardation
-
MILA, M., SANCHEZ, A., BADENAS, C., BRUN, C., JIMÉNEZ, D., VILLA, M.P., CASTELLVÍ-BEL, S., and ESTIVILL, X. (1997). Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation. Hum. Genet. 100, 503-507.
-
(1997)
Hum. Genet.
, vol.100
, pp. 503-507
-
-
Mila, M.1
Sanchez, A.2
Badenas, C.3
Brun, C.4
Jiménez, D.5
Villa, M.P.6
Castellví-Bel, S.7
Estivill, X.8
-
18
-
-
0032865974
-
Screening of FMR1 mutations among the mentally retarded: Prevalence of the fragile X syndrome in Spain
-
MILLAN, J.M., MARTINEZ, F., CADROY, A., GANDIA, J., CASQUERO, M., BANEYTO, M., BADIA, L., and PRIETO, F. (1999). Screening of FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain. Clin. Genet. 56, 98-99.
-
(1999)
Clin. Genet.
, vol.56
, pp. 98-99
-
-
Millan, J.M.1
Martinez, F.2
Cadroy, A.3
Gandia, J.4
Casquero, M.5
Baneyto, M.6
Badia, L.7
Prieto, F.8
-
19
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
OBERLÉ, I., TOUSSEAU, F., HEITZ, D., KRETZ, D., DEVYS, D., HANAVER, A., BOVE, J., BERTHEAS, M., and MANDEL, J.L. (1991). Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1097-1102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberlé, I.1
Tousseau, F.2
Heitz, D.3
Kretz, D.4
Devys, D.5
Hanaver, A.6
Bove, J.7
Bertheas, M.8
Mandel, J.L.9
-
20
-
-
0033612137
-
Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation and stability
-
PATSALIS, P.C., SISMANI, C., HETTINGER, J.A., BOUMBA, I., GEORGIOU, I., STYLIANIDOU, G., ANASTASIADOU, V., KOUKOULLI, R., PAGOULATOS, G., and SYRROU, M. (1999). Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation and stability. Am. J. Med. Genet. 84, 184-190.
-
(1999)
Am. J. Med. Genet.
, vol.84
, pp. 184-190
-
-
Patsalis, P.C.1
Sismani, C.2
Hettinger, J.A.3
Boumba, I.4
Georgiou, I.5
Stylianidou, G.6
Anastasiadou, V.7
Koukoulli, R.8
Pagoulatos, G.9
Syrrou, M.10
-
21
-
-
0033906467
-
Screening for fragile X syndrome in women of reproductive age
-
PESSO, R., BERKENSTADT, M., CUCKLE, H., GAK, E., PELEG, L., FRYDMAN, M., and BARKAI, G. (2000). Screening for fragile X syndrome in women of reproductive age. Prenat. Diagn. 20, 611-614.
-
(2000)
Prenat. Diagn.
, vol.20
, pp. 611-614
-
-
Pesso, R.1
Berkenstadt, M.2
Cuckle, H.3
Gak, E.4
Peleg, L.5
Frydman, M.6
Barkai, G.7
-
22
-
-
0036293867
-
Pilot study for the neonatal screening of Fragile X syndrome
-
RIFÉ, M., MALLOLAS, J., BADENAS, C., TAZÓN, B., RODRÍGUEZ, MIGUÉLEZ, M., PAMPOLS, T., SANCHEZ, A., and MILA, M. (2002). Pilot study for the neonatal screening of Fragile X syndrome. Prenat. Diagn. 22, 459-462.
-
(2002)
Prenat. Diagn.
, vol.22
, pp. 459-462
-
-
Rifé, M.1
Mallolas, J.2
Badenas, C.3
Tazón, B.4
Rodríguez5
Miguélez, M.6
Pampols, T.7
Sanchez, A.8
Mila, M.9
-
23
-
-
2442724489
-
Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies
-
RYYNÄNEN, M., HEINONEN, S., MAKKONEN, M., KAJANOJA, E., MANNERMAA, A., and PERTTI, K. (1999). Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies. Eur. J. Hum. Genet. 7, 212-216.
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 212-216
-
-
Ryynänen, M.1
Heinonen, S.2
Makkonen, M.3
Kajanoja, E.4
Mannermaa, A.5
Pertti, K.6
-
24
-
-
0025364886
-
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
-
SINCLAIR, A.H., BERTA, P., PALMER, M.S., HAWKINS, J.R., GRIFFITHS, B.L., SMITH, M.J., FOSTER, J.W., FRISCHAUF, A.M., LOVELL-BADGE, R., and GOODFELLOW, P.N. (1990). A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346, 240-244.
-
(1990)
Nature
, vol.346
, pp. 240-244
-
-
Sinclair, A.H.1
Berta, P.2
Palmer, M.S.3
Hawkins, J.R.4
Griffiths, B.L.5
Smith, M.J.6
Foster, J.W.7
Frischauf, A.M.8
Lovell-Badge, R.9
Goodfellow, P.N.10
-
25
-
-
0028833865
-
DNA testing for fragile X syndrome in schools for learning difficulties
-
SLANEY, S.F., WILKIE, A.O.M., HIRST, M.C., CHARLTON, R., McKINLEY, M., POINTON, J., CHRISTODOULOU, Z., HUSON, S.M., and DAVIES, K.E. (1995). DNA testing for fragile X syndrome in schools for learning difficulties. Arch. Dis. Child 72, 33-37.
-
(1995)
Arch. Dis. Child
, vol.72
, pp. 33-37
-
-
Slaney, S.F.1
Wilkie, A.O.M.2
Hirst, M.C.3
Charlton, R.4
Mckinley, M.5
Pointon, J.6
Christodoulou, Z.7
Huson, S.M.8
Davies, K.E.9
-
26
-
-
0034645520
-
Screening for the fragile X syndrome among mentally retarded males by hair root analysis
-
TUNÇBILEK, E., ALIKASIFOGLU, M., AKTAS, D., DUMAN, F., YANIK, H., ANAR, B., OOSTRA, B., and WILLEMSEN, R. (2000). Screening for the fragile X syndrome among mentally retarded males by hair root analysis. Am. J. Med. Genet. 95, 105-107.
-
(2000)
Am. J. Med. Genet.
, vol.95
, pp. 105-107
-
-
Tunçbilek, E.1
Alikasifoglu, M.2
Aktas, D.3
Duman, F.4
Yanik, H.5
Anar, B.6
Oostra, B.7
Willemsen, R.8
-
27
-
-
0022506218
-
Preventive screening for the fragile X syndrome
-
TURNER, G., ROBINSON, H., LAING, S., and PURVIS-SMITH, S. (1986). Preventive screening for the fragile X syndrome. N. Engl. J. Med. 315, 607-609.
-
(1986)
N. Engl. J. Med.
, vol.315
, pp. 607-609
-
-
Turner, G.1
Robinson, H.2
Laing, S.3
Purvis-Smith, S.4
-
28
-
-
0029924873
-
Prevalence of fragile X syndrome
-
TURNER, G., WEBB, T., WAKES, S., and ROBINSON, H. (1996). Prevalence of fragile X syndrome. Am. J. Med. Genet. 64, 196-197.
-
(1996)
Am. J. Med. Genet.
, vol.64
, pp. 196-197
-
-
Turner, G.1
Webb, T.2
Wakes, S.3
Robinson, H.4
-
29
-
-
0022911920
-
The frequency of the fragile X chromosome among schoolchildren in Coventry
-
WEBB, T.P., BUNDEY, S., THAKE, A., and TODD, J. (1986). The frequency of the fragile X chromosome among schoolchildren in Coventry. J. Med. Genet. 23, 396-399.
-
(1986)
J. Med. Genet.
, vol.23
, pp. 396-399
-
-
Webb, T.P.1
Bundey, S.2
Thake, A.3
Todd, J.4
-
30
-
-
0034130169
-
FRAXA and FRAXE: The results of a five year survey
-
YOUINGS, S.A., MURRAY, A., DENNIS, N., ENNIS, S., LEWIS, C., McKECHNIE, N., POUND, M., SHARROCK, A., and JACOBS, P. (2000). FRAXA and FRAXE: the results of a five year survey. J. Med. Genet. 37, 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
|