358 related articles for article (PubMed ID: 9222959)
1. Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
Strain L; Wright AF; Bonthron DT
J Med Genet; 1997 Jul; 34(7):535-40. PubMed ID: 9222959
[TBL] [Abstract][Full Text] [Related]
2. Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28.
Legius E; Kaepernick L; Higgins JV; Glover TW
Clin Genet; 1994 Apr; 45(4):165-8. PubMed ID: 8062432
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
Saillour Y; Zanni G; Des Portes V; Heron D; Guibaud L; Iba-Zizen MT; Pedespan JL; Poirier K; Castelnau L; Julien C; Franconnet C; Bonthron D; Porteous ME; Chelly J; Bienvenu T
J Med Genet; 2007 Nov; 44(11):739-44. PubMed ID: 17617514
[TBL] [Abstract][Full Text] [Related]
4. A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.
Pai GS; Hane B; Joseph M; Nelson R; Hammond LS; Arena JF; Lubs HA; Stevenson RE; Schwartz CE
J Med Genet; 1997 Jul; 34(7):529-34. PubMed ID: 9222958
[TBL] [Abstract][Full Text] [Related]
5. A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.
Shashi V; Berry MN; Shoaf S; Sciote JJ; Goldstein D; Hart TC
Am J Hum Genet; 2000 Feb; 66(2):469-79. PubMed ID: 10677307
[TBL] [Abstract][Full Text] [Related]
6. MASA syndrome: further clinical delineation and chromosomal localisation.
Winter RM; Davies KE; Bell MV; Huson SM; Patterson MN
Hum Genet; 1989 Jul; 82(4):367-70. PubMed ID: 2737668
[TBL] [Abstract][Full Text] [Related]
7. Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.
Martínez F; Tomás M; Millán JM; Fernández A; Palau F; Prieto F
J Med Genet; 1998 Apr; 35(4):284-7. PubMed ID: 9598720
[TBL] [Abstract][Full Text] [Related]
8. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
Fransen E; Lemmon V; Van Camp G; Vits L; Coucke P; Willems PJ
Eur J Hum Genet; 1995; 3(5):273-84. PubMed ID: 8556302
[TBL] [Abstract][Full Text] [Related]
9. The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.
Schrander-Stumpel C; Meyer H; Merckx D; Jones M; Israel J; Sommer A; Stevens C; Tinschert S; Wilson G; Willems P
Genet Couns; 1994; 5(1):1-10. PubMed ID: 8031529
[TBL] [Abstract][Full Text] [Related]
10. Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2).
Sutherland GR; Gedeon AK; Haan EA; Woodroffe P; Mulley JC
Am J Med Genet; 1988; 30(1-2):493-508. PubMed ID: 3177467
[TBL] [Abstract][Full Text] [Related]
11. X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
Fransen E; Schrander-Stumpel C; Vits L; Coucke P; Van Camp G; Willems PJ
Hum Mol Genet; 1994 Dec; 3(12):2255-6. PubMed ID: 7881431
[No Abstract] [Full Text] [Related]
12. Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.
Kozák L; Chiurazzi P; Genuardi M; Pomponi MG; Zollino M; Neri G
J Med Genet; 1993 Oct; 30(10):866-9. PubMed ID: 8230164
[TBL] [Abstract][Full Text] [Related]
13. New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation.
Brooks SS; Wisniewski K; Brown WT
Am J Med Genet; 1994 Jul; 51(4):586-90. PubMed ID: 7943044
[TBL] [Abstract][Full Text] [Related]
14. Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.
Martínez F; Martínez-Garay I; Millán JM; Pérez-Aytes A; Moltó MD; Orellana C; Prieto F
Am J Med Genet; 2001 Aug; 102(2):200-4. PubMed ID: 11477616
[TBL] [Abstract][Full Text] [Related]
15. Agenesis of the corpus callosum associated with MASA syndrome.
Boyd E; Schwartz CE; Schroer RJ; May MM; Shapiro SD; Arena JF; Lubs HA; Stevenson RE
Clin Dysmorphol; 1993 Oct; 2(4):332-41. PubMed ID: 8305964
[TBL] [Abstract][Full Text] [Related]
16. Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.
Toutain A; Ayrault AD; Moraine C
Am J Med Genet; 1997 Aug; 71(3):305-14. PubMed ID: 9268101
[TBL] [Abstract][Full Text] [Related]
17. X-linked hydrocephalus: clinical heterogeneity at a single gene locus.
Serville F; Lyonnet S; Pelet A; Reynaud M; Louail C; Munnich A; Le Merrer M
Eur J Pediatr; 1992 Jul; 151(7):515-8. PubMed ID: 1396913
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Renpenning syndrome maps to Xp11.
Stevenson RE; Arena JF; Ouzts E; Gibson A; Shokeir MH; Vnencak-Jones C; Lubs HA; May M; Schwartz CE
Am J Hum Genet; 1998 May; 62(5):1092-101. PubMed ID: 9545405
[TBL] [Abstract][Full Text] [Related]
20. Novel syndromic form of X-linked complicated spastic paraplegia.
Claes S; Devriendt K; Van Goethem G; Roelen L; Meireleire J; Raeymaekers P; Cassiman JJ; Fryns JP
Am J Med Genet; 2000 Sep; 94(1):1-4. PubMed ID: 10982473
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]