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Items: 1 to 20 of 264

1.

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE.

Am J Hum Genet. 2002 May;70(5):1349-56.

2.

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C.

Am J Hum Genet. 2001 Jun;68(6):1497-500.

3.

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS.

Am J Med Genet A. 2005 Jan 30;132A(3):288-95.

PMID:
15690373
4.

X-linked mental retardation associated with psoriasis: a new syndrome?

Tranebjaerg L, Svejgaard A, Lykkesfeldt G.

Am J Med Genet. 1988 May-Jun;30(1-2):263-73.

PMID:
3177453
5.

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.

Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A.

Nat Genet. 2000 Oct;26(2):247-50.

PMID:
11017088
6.

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 14;93(4):294-8.

PMID:
10946356
7.

High prevalence of SLC6A8 deficiency in X-linked mental retardation.

Rosenberg EH, Almeida LS, Kleefstra T, deGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, deGrauw TJ, Jakobs C, Salomons GS.

Am J Hum Genet. 2004 Jul;75(1):97-105.

8.

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J.

Am J Med Genet. 2002 Nov 1;112(4):405-11.

PMID:
12376946
10.

Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1.

Claes S, Volcke P, Devriendt K, Holvoet M, Raeymaekers P, Cassiman JJ, Fryns JP.

Am J Med Genet. 1999 Jul 30;85(3):283-7.

PMID:
10398244
11.

X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization.

Turner G, Gedeon A, Mulley J.

Am J Med Genet. 1994 Jul 15;51(4):575-80.

PMID:
7943042
12.

Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.

Hedera P, Alvarado D, Beydoun A, Fink JK.

Ann Neurol. 2002 Jan;51(1):45-50.

13.

A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28.

Hamel BC, Kremer H, Wesby-van Swaay E, van den Helm B, Smits AP, Oostra BA, Ropers HH, Mariman EC.

Am J Med Genet. 1996 Jul 12;64(1):131-3.

PMID:
8826463
14.

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.

15.

Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.

Ronce N, Raynaud M, Toutain A, Moizard MP, Colleaux L, Gendrot C, Briault S, Moraine C.

Am J Med Genet. 1999 Mar 12;83(2):132-7.

PMID:
10190484
16.

[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].

Gao C, Luo Q, Wang HL, Gao XQ, Fan QT, Wang H, Sheng GY, Zhou JH, Gao TZ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Feb;20(1):15-8. Chinese.

PMID:
12579492
17.

X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.

Gendrot C, Ronce N, Raynaud M, Ayrault AD, Dourlens J, Castelnau P, Muh JP, Chelly J, Moraine C.

Am J Med Genet. 1999 Apr 23;83(5):411-8.

PMID:
10232754
18.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
19.

X-linked creatine transporter defect: an overview.

Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C.

J Inherit Metab Dis. 2003;26(2-3):309-18. Review.

PMID:
12889669
20.

AGTR2 mutations in X-linked mental retardation.

Vervoort VS, Beachem MA, Edwards PS, Ladd S, Miller KE, de Mollerat X, Clarkson K, DuPont B, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK.

Science. 2002 Jun 28;296(5577):2401-3.

PMID:
12089445

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