-
1
-
-
0037866676
-
Nonsyndromic X-linked mental retardation: Where are the missing mutations?
-
Ropers HH, Hoeltzenbein M, Kalscheuer V, Yntema H, Hamel B, Fryns JP, Chelly J, Partingtan M, Gecz J, Moraine C. Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends Genet 2003;19(6):316-20.
-
(2003)
Trends Genet
, vol.19
, Issue.6
, pp. 316-320
-
-
Ropers, H.H.1
Hoeltzenbein, M.2
Kalscheuer, V.3
Yntema, H.4
Hamel, B.5
Fryns, J.P.6
Chelly, J.7
Partingtan, M.8
Gecz, J.9
Moraine, C.10
-
2
-
-
0344099480
-
Clinical and molecular contributions to the understanding of X-linked mental retardation
-
Stevenson RE, Schwartz CE. Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenet Genome Res 2002;99(1-4):265-75.
-
(2002)
Cytogenet Genome Res
, vol.99
, Issue.1-4
, pp. 265-275
-
-
Stevenson, R.E.1
Schwartz, C.E.2
-
3
-
-
0035464960
-
Monogenetic causes of X-linked mental retardation
-
Chelly J, Mandel JL. Monogenetic causes of X-linked mental retardation. Nat Rev Genet 2001;2(9):669-80.
-
(2001)
Nat Rev Genet
, vol.2
, Issue.9
, pp. 669-680
-
-
Chelly, J.1
Mandel, J.L.2
-
5
-
-
9144230687
-
Mutations in the ZNF41 gene are associated with cognitive deficits: Identification of a new candidate for X-linked mental retardation
-
Shoichet SA, Hoffmann K, Menzel C, Troutmann U, Maser B, Hoeltzenbrein M, Echenne B, Partington M, van Bokhoven L, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet 2003;73(6):1341-54.
-
(2003)
Am J Hum Genet
, vol.73
, Issue.6
, pp. 1341-1354
-
-
Shoichet, S.A.1
Hoffmann, K.2
Menzel, C.3
Troutmann, U.4
Maser, B.5
Hoeltzenbrein, M.6
Echenne, B.7
Partington, M.8
Van Bokhoven, L.9
Moraine, C.10
Fryns, J.P.11
Chelly, J.12
Rott, H.D.13
Ropers, H.H.14
Kalscheuer, V.M.15
-
6
-
-
0345257776
-
Mutations in the polyglutomine binding protein 1 gene couse X-linked mental retardation
-
Kolscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff T-C, Shoichet S, Hogens O, Too J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns J-P, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BCJ, Schweiger S, Ropers H-H. Mutations in the polyglutomine binding protein 1 gene couse X-linked mental retardation. Nat Genet 2003;35(4):313-5.
-
(2003)
Nat Genet
, vol.35
, Issue.4
, pp. 313-315
-
-
Kolscheuer, V.M.1
Freude, K.2
Musante, L.3
Jensen, L.R.4
Yntema, H.G.5
Gécz, J.6
Sefiani, A.7
Hoffmann, K.8
Moser, B.9
Haas, S.10
Gurok, U.11
Haesler, S.12
Aranda, B.13
Nshedjan, A.14
Tzschach, A.15
Hartmann, N.16
Roloff, T.-C.17
Shoichet, S.18
Hogens, O.19
Too, J.20
Van Bokhoven, H.21
Turner, G.22
Chelly, J.23
Moraine, C.24
Fryns, J.-P.25
Nuber, U.26
Hoeltzenbein, M.27
Scharff, C.28
Scherthan, H.29
Lenzner, S.30
Hamel, B.C.J.31
Schweiger, S.32
Ropers, H.-H.33
more..
-
7
-
-
0032910443
-
A missenie mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
-
Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel J-L, Mulley J, Sassone-Corsi P, Hanauer A, A missenie mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet 1999;22(1):13-4.
-
(1999)
Nat Genet
, vol.22
, Issue.1
, pp. 13-14
-
-
Merienne, K.1
Jacquot, S.2
Pannetier, S.3
Zeniou, M.4
Bankier, A.5
Gecz, J.6
Mandel, J.-L.7
Mulley, J.8
Sassone-Corsi, P.9
Hanauer, A.10
-
8
-
-
0037090887
-
ARX, a novel Prd-closs-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
-
Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereou F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Choobouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. ARX, a novel Prd-closs-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002;11(8):981-91.
-
(2002)
Hum Mol Genet
, vol.11
, Issue.8
, pp. 981-991
-
-
Bienvenu, T.1
Poirier, K.2
Friocourt, G.3
Bahi, N.4
Beaumont, D.5
Fauchereou, F.6
Ben Jeema, L.7
Zemni, R.8
Vinet, M.C.9
Francis, F.10
Couvert, P.11
Gomot, M.12
Moraine, C.13
Van Bokhoven, H.14
Kalscheuer, V.15
Frints, S.16
Gecz, J.17
Ohzaki, K.18
Choobouni, H.19
Fryns, J.P.20
Desportes, V.21
Beldjord, C.22
Chelly, J.23
more..
-
9
-
-
0035991641
-
Low frequency of MECP2 mutations in mentally retarded males
-
Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H. Low frequency of MECP2 mutations in mentally retarded males. Eur J Hum Genet 2002;10(8):487-90.
-
(2002)
Eur J Hum Genet
, vol.10
, Issue.8
, pp. 487-490
-
-
Yntema, H.G.1
Kleefstra, T.2
Oudakker, A.R.3
Romein, T.4
De Vries, B.B.A.5
Nillesen, W.6
Sistermans, E.A.7
Brunner, H.G.8
Hamel, B.C.J.9
Van Bokhoven, H.10
-
10
-
-
0037072260
-
X-linked myoclonic epilepsy with spasticity and intellectual disability: Mutation in the homeobox gene ARX
-
Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stramme P, Berkovic SF, Gecz J, Mulley JC. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology 2002;59(3):348-56.
-
(2002)
Neurology
, vol.59
, Issue.3
, pp. 348-356
-
-
Scheffer, I.E.1
Wallace, R.H.2
Phillips, F.L.3
Hewson, P.4
Reardon, K.5
Parasivam, G.6
Stramme, P.7
Berkovic, S.F.8
Gecz, J.9
Mulley, J.C.10
-
11
-
-
0038495879
-
Oligophrenin 1 (OPHN1) gene mutation couses syndromic X-linked mental retardation with epilepsy, rostrol ventricular enlargement and cerebellar hypoplasia
-
Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Hausler M, Mull M, Ramaekers VT. Oligophrenin 1 (OPHN1) gene mutation couses syndromic X-linked mental retardation with epilepsy, rostrol ventricular enlargement and cerebellar hypoplasia. Brain 2003;126(Pt 7):1537-44.
-
(2003)
Brain
, vol.126
, Issue.7 PART
, pp. 1537-1544
-
-
Bergmann, C.1
Zerres, K.2
Senderek, J.3
Rudnik-Schoneborn, S.4
Eggermann, T.5
Hausler, M.6
Mull, M.7
Ramaekers, V.T.8
-
12
-
-
0037531657
-
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
-
Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet 2003;40(6):441-6.
-
(2003)
J Med Genet
, vol.40
, Issue.6
, pp. 441-446
-
-
Philip, N.1
Chabrol, B.2
Lossi, A.M.3
Cardoso, C.4
Guerrini, R.5
Dobyns, W.B.6
Raybaud, C.7
Villard, L.8
-
13
-
-
0033066815
-
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis
-
Hamel BCJ, Smits APT, van den Helm B, Smeets DFCM, Knoers NVAM, van Roosmalen T, Thoonen GHJ, Assman-Hulsmans CFCH, Ropers H-H, Mariman ECM, Kremer H. Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. Am J Med Genet 1999;85(3):290-304.
-
(1999)
Am J Med Genet
, vol.85
, Issue.3
, pp. 290-304
-
-
Hamel, B.C.J.1
Smits, A.P.T.2
Van Den Helm, B.3
Smeets, D.F.C.M.4
Knoers, N.V.A.M.5
Van Roosmalen, T.6
Thoonen, G.H.J.7
Assman-Hulsmans, C.F.C.H.8
Ropers, H.-H.9
Mariman, E.C.M.10
Kremer, H.11
-
14
-
-
0036842950
-
Detecting polymorphisms and mutations in candidate genes
-
Collins JS, Schwartz CE. Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet 2002;71(5):1251-2.
-
(2002)
Am J Hum Genet
, vol.71
, Issue.5
, pp. 1251-1252
-
-
Collins, J.S.1
Schwartz, C.E.2
-
15
-
-
18244399397
-
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autasome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation
-
Lossi AM, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mottei MG, Croquette MF, Villard L. Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autasome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation. J Med Genet 2002;39(2):113-7.
-
(2002)
J Med Genet
, vol.39
, Issue.2
, pp. 113-117
-
-
Lossi, A.M.1
Laugier-Anfossi, F.2
Depetris, D.3
Gecz, J.4
Gedeon, A.5
Kooy, F.6
Schwartz, C.7
Mottei, M.G.8
Croquette, M.F.9
Villard, L.10
-
16
-
-
0036866596
-
Multifunctional zinc finger proteins in development and disease
-
1
-
Ladomery M, Dellaire G. Multifunctional zinc finger proteins in development and disease. Ann Hum Genet 2002;66(Pt 5-6):331-42.
-
(2002)
Ann Hum Genet
, vol.66
, Issue.5-6 PART
, pp. 331-342
-
-
Ladomery, M.1
Dellaire, G.2
-
17
-
-
0029858585
-
KAP-1, o novel compressor for the highly conserved KRAB repression domain
-
Friedman JR, Fredericks WJ, Jensen DE, Speicher DW, Huang XP, Neilson EG, Rauscher FJ III. KAP-1, o novel compressor for the highly conserved KRAB repression domain. Genes Dev 1996;10(16):2067-78.
-
(1996)
Genes Dev
, vol.10
, Issue.16
, pp. 2067-2078
-
-
Friedman, J.R.1
Fredericks, W.J.2
Jensen, D.E.3
Speicher, D.W.4
Huang, X.P.5
Neilson, E.G.6
Rauscher III, F.J.7
-
18
-
-
0037089626
-
SETDB1: A novel KAP-1-associated histane H3, lysine 9-specific methyltransferose that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins
-
Schultz DC, Ayyanathan K, Negorev D, Maul GG, Rauscher FJ III. SETDB1: a novel KAP-1-associated histane H3, lysine 9-specific methyltransferose that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins. Genes Dev 2002;16(8):919-32.
-
(2002)
Genes Dev
, vol.16
, Issue.8
, pp. 919-932
-
-
Schultz, D.C.1
Ayyanathan, K.2
Negorev, D.3
Maul, G.G.4
Rauscher III, F.J.5
-
19
-
-
0035118229
-
Targeting histone deacefylase complexes via KRAB-zinc finger proteins: The PHD and bromodomains of KAP-1 form a cooperative unit that recruits a novel isoform of the Mi-2alpha subunit of NuRD
-
Schultz DC, Friedman JR, Rauscher FJ III. Targeting histone deacefylase complexes via KRAB-zinc finger proteins: the PHD and bromodomains of KAP-1 form a cooperative unit that recruits a novel isoform of the Mi-2alpha subunit of NuRD. Genes Dev 2001;15(4):428-43.
-
(2001)
Genes Dev
, vol.15
, Issue.4
, pp. 428-443
-
-
Schultz, D.C.1
Friedman, J.R.2
Rauscher III, F.J.3
-
20
-
-
1842297540
-
Direct interaction of the KRAB/Cys2-His2 zinc finger protein ZNF74 with a hyperphosphorylated form of the RNA polymerase II largest subunit
-
Grondin B, Cote F, Bazinet M, Vincent M, Aubry M. Direct interaction of the KRAB/Cys2-His2 zinc finger protein ZNF74 with a hyperphosphorylated form of the RNA polymerase II largest subunit. J Biol Chem 1997;272(44):27877-85.
-
(1997)
J Biol Chem
, vol.272
, Issue.44
, pp. 27877-27885
-
-
Grondin, B.1
Cote, F.2
Bazinet, M.3
Vincent, M.4
Aubry, M.5
-
21
-
-
0028183128
-
Clustered organization of Kruppel zinc-finger genes at Xp11.23, flanking a translocation breakpoint at OATL1: A physical map with locus assignments for ZNF21, ZNF41, ZNF81, and ELK1
-
Knight JC, Grimaldi G, Thiesen HJ, Bech-Hansen NT, Fletcher CD, Coleman MP. Clustered organization of Kruppel zinc-finger genes at Xp11.23, flanking a translocation breakpoint at OATL1: a physical map with locus assignments for ZNF21, ZNF41, ZNF81, and ELK1. Genomics 1994;21(1):180-7.
-
(1994)
Genomics
, vol.21
, Issue.1
, pp. 180-187
-
-
Knight, J.C.1
Grimaldi, G.2
Thiesen, H.J.3
Bech-Hansen, N.T.4
Fletcher, C.D.5
Coleman, M.P.6
-
22
-
-
0028789515
-
Cloning and characterization of a novel zinc finger gene in Xp11.2
-
Deny JM, Jess U, Francke U. Cloning and characterization of a novel zinc finger gene in Xp11.2. Genomics 1995;30(2):361-5.
-
(1995)
Genomics
, vol.30
, Issue.2
, pp. 361-365
-
-
Deny, J.M.1
Jess, U.2
Francke, U.3
-
23
-
-
0038141095
-
Differential expansion of zinc-finger transcription factor loci in homologous human and mouse gene clusters
-
Shannon M, Hamilton AT, Gordon L, Branscomb E, Stubbs L. Differential expansion of zinc-finger transcription factor loci in homologous human and mouse gene clusters. Genome Res 2003;13(6A):1097-10.
-
(2003)
Genome Res
, vol.13
, Issue.6 A
, pp. 1097-1110
-
-
Shannon, M.1
Hamilton, A.T.2
Gordon, L.3
Branscomb, E.4
Stubbs, L.5
|