129 related articles for article (PubMed ID: 11050624)
1. Molecular study of the PAK3 and GDI1 genes in nonsyndromic X-linked mental retardation spanish patients.
Rifé M; Mallolas J; Castellví-Bel S; Badenas C; Jiménez D; Milà M
Am J Med Genet; 2000 Oct; 94(5):389-91. PubMed ID: 11050624
[No Abstract] [Full Text] [Related]
2. PAK3 mutation in nonsyndromic X-linked mental retardation.
Allen KM; Gleeson JG; Bagrodia S; Partington MW; MacMillan JC; Cerione RA; Mulley JC; Walsh CA
Nat Genet; 1998 Sep; 20(1):25-30. PubMed ID: 9731525
[TBL] [Abstract][Full Text] [Related]
3. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
Bienvenu T; des Portes V; McDonell N; Carrié A; Zemni R; Couvert P; Ropers HH; Moraine C; van Bokhoven H; Fryns JP; Allen K; Walsh CA; Boué J; Kahn A; Chelly J; Beldjord C
Am J Med Genet; 2000 Aug; 93(4):294-8. PubMed ID: 10946356
[TBL] [Abstract][Full Text] [Related]
4. Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27.
Lower KM; Gecz J
Am J Med Genet; 2001 Apr; 100(1):43-8. PubMed ID: 11337747
[TBL] [Abstract][Full Text] [Related]
5. Studies of the candidate genes in X-linked congenital cerebellar hypoplasia.
Illarioshkin SN; Allen KM; Gleeson JG; Tsuji S; Ikeuchi T; Markova ED; Walsh CA; Ivanova-Smolenskaya IA
J Neurol; 1999 Dec; 246(12):1177-80. PubMed ID: 10653312
[TBL] [Abstract][Full Text] [Related]
6. Activity-dependent regulation of genes implicated in X-linked non-specific mental retardation.
Boda B; Mas C; Muller D
Neuroscience; 2002; 114(1):13-7. PubMed ID: 12207950
[TBL] [Abstract][Full Text] [Related]
7. Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
D'Adamo P; Menegon A; Lo Nigro C; Grasso M; Gulisano M; Tamanini F; Bienvenu T; Gedeon AK; Oostra B; Wu SK; Tandon A; Valtorta F; Balch WE; Chelly J; Toniolo D
Nat Genet; 1998 Jun; 19(2):134-9. PubMed ID: 9620768
[TBL] [Abstract][Full Text] [Related]
8. Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.
Strobl-Wildemann G; Kalscheuer VM; Hu H; Wrogemann K; Ropers HH; Tzschach A
Am J Med Genet A; 2011 Dec; 155A(12):3067-70. PubMed ID: 22002931
[TBL] [Abstract][Full Text] [Related]
9. Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families.
Lossi AM; Colleaux L; Chiaroni P; Fontes M; Villard L; Abidi F; Schwartz C; Briault S; Moraine C
Am J Med Genet; 2000 Oct; 94(5):386-8. PubMed ID: 11050623
[No Abstract] [Full Text] [Related]
10. Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
Stevenson RE; Abidi F; Schwartz CE; Lubs HA; Holmes LB
Am J Med Genet; 2000 Oct; 94(5):383-5. PubMed ID: 11050622
[No Abstract] [Full Text] [Related]
11. Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.
Badenas C; Castellví-Bel S; Volpini V; Jiménez D; Sánchez A; Estivill X; Milà M
Am J Med Genet; 2001 Feb; 98(4):343-7. PubMed ID: 11170079
[TBL] [Abstract][Full Text] [Related]
12. Gene for apparently nonsyndromic X-linked mental retardation (MRX32) maps to an 18-Mb region of Xp21.2-p22.
Häne B; Stevenson RE; Arena JF; Lubs HA; Simensen RJ; Schwartz CE
Am J Med Genet; 1999 Jul; 85(3):271-5. PubMed ID: 10398242
[TBL] [Abstract][Full Text] [Related]
13. Evidence for somatic and germline mosaicism in CRASH syndrome.
Vits L; Chitayat D; Van Camp G; Holden JJ; Fransen E; Willems PJ
Hum Mutat; 1998; Suppl 1():S284-7. PubMed ID: 9452110
[No Abstract] [Full Text] [Related]
14. A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
Hertecant J; Komara M; Nagi A; Al-Zaabi O; Fathallah W; Cui H; Yang Y; Eng CM; Al Sorkhy M; Ghattas MA; Al-Gazali L; Ali BR
Eur J Med Genet; 2017 Apr; 60(4):212-216. PubMed ID: 28126652
[TBL] [Abstract][Full Text] [Related]
15. Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.
Holinski-Feder E; Chahrockh-Zadeh S; Rittinger O; Jedele KB; Gasteiger M; Lenski C; Murken J; Golla A
Am J Med Genet; 1999 Sep; 86(2):102-6. PubMed ID: 10449641
[TBL] [Abstract][Full Text] [Related]
16. Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.
Zeniou M; Pannetier S; Fryns JP; Hanauer A
Am J Hum Genet; 2002 Jun; 70(6):1421-33. PubMed ID: 11992250
[TBL] [Abstract][Full Text] [Related]
17. X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.
des Portes V; Beldjord C; Chelly J; Hamel B; Kremer H; Smits A; van Bokhoven H; Ropers HH; Claes S; Fryns JP; Ronce N; Gendrot C; Toutain A; Raynaud M; Moraine C
Am J Med Genet; 1999 Jul; 85(3):263-5. PubMed ID: 10398240
[No Abstract] [Full Text] [Related]
18. Mutations in GDI1 and X-linked non-specific mental retardation.
Dell'Amico MC; Vivani P; Miccoli M; Cecconi M; Baggiani A
Ann Ig; 2011; 23(1):71-9. PubMed ID: 21736009
[TBL] [Abstract][Full Text] [Related]
19. Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.
Shoji Y; Takahashi T; Suzuki Y; Suzuki T; Komatsu K; Hirono H; Shoji Y; Yokoyama T; Kito H; Takada G
Hum Mutat; 1998; Suppl 1():S278-83. PubMed ID: 9452109
[No Abstract] [Full Text] [Related]
20. Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21.
Häne B; Schroer RJ; Arena JF; Lubs HA; Schwartz CE; Stevenson RE
Clin Genet; 1996 Oct; 50(4):176-83. PubMed ID: 9001795
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
