Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.
作者信息
Mandel J L
出版信息
Am J Hum Genet. 2004 Oct;75(4):730-1; author reply 731-2. doi: 10.1086/424821.
Abstract
摘要
相似文献
1
Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.
Am J Hum Genet. 2004 Oct;75(4):730-1; author reply 731-2. doi: 10.1086/424821.
2
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
Am J Hum Genet. 2004 Jul;75(1):97-105. doi: 10.1086/422102. Epub 2004 May 20.
3
Severe epilepsy in X-linked creatine transporter defect (CRTR-D).
Epilepsia. 2007 Jun;48(6):1211-3. doi: 10.1111/j.1528-1167.2007.01148.x.
4
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
Mol Genet Metab. 2024 May;142(1):108455. doi: 10.1016/j.ymgme.2024.108455. Epub 2024 Mar 24.
5
RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.
Hum Mutat. 2014 Sep;35(9):1128-35. doi: 10.1002/humu.22609. Epub 2014 Jul 15.
6
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.
Brain Dev. 2014 Aug;36(7):630-3. doi: 10.1016/j.braindev.2013.08.004. Epub 2013 Sep 14.
7
Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.
Mol Genet Metab. 2013 Dec;110(4):465-71. doi: 10.1016/j.ymgme.2013.09.018. Epub 2013 Oct 4.
8
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Hum Genet. 2006 Jul;119(6):604-10. doi: 10.1007/s00439-006-0162-9. Epub 2006 Apr 26.
9
Classification of the Molecular Defects Associated with Pathogenic Variants of the Creatine Transporter.
Biochemistry. 2020 Apr 7;59(13):1367-1377. doi: 10.1021/acs.biochem.9b00956. Epub 2020 Mar 30.
10
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Hum Mutat. 2007 Sep;28(9):890-6. doi: 10.1002/humu.20532.
引用本文的文献
1
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
Orphanet J Rare Dis. 2012 Dec 13;7:96. doi: 10.1186/1750-1172-7-96.
2
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Hum Genet. 2006 Jul;119(6):604-10. doi: 10.1007/s00439-006-0162-9. Epub 2006 Apr 26.
3
X linked mental retardation: a clinical guide.
J Med Genet. 2006 Mar;43(3):193-200. doi: 10.1136/jmg.2005.033043. Epub 2005 Aug 23.
本文引用的文献
1
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.
Am J Med Genet A. 2004 Sep 1;129A(3):218-24. doi: 10.1002/ajmg.a.30237.
2
Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
Eur J Hum Genet. 2004 Sep;12(9):689-93. doi: 10.1038/sj.ejhg.5201247.
3
Screening of the ARX gene in 682 retarded males.
Eur J Hum Genet. 2004 Sep;12(9):701-5. doi: 10.1038/sj.ejhg.5201222.
4
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
Am J Hum Genet. 2004 Jul;75(1):97-105. doi: 10.1086/422102. Epub 2004 May 20.
5
Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation.
Genet Test. 2002 Winter;6(4):335-9. doi: 10.1089/10906570260471903.
6
Screening for fragile X syndrome: results from a school for mentally retarded children.
Acta Paediatr. 2002;91(5):535-9. doi: 10.1080/080352502753711650.
7
Monogenic causes of X-linked mental retardation.
Nat Rev Genet. 2001 Sep;2(9):669-80. doi: 10.1038/35088558.
8
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
Am J Hum Genet. 2001 Jun;68(6):1497-500. doi: 10.1086/320595. Epub 2001 Apr 20.
9
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.
Am J Hum Genet. 1997 Sep;61(3):660-7. doi: 10.1086/515496.
10
The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers.
Am J Med Genet. 1983 Apr;14(4):713-24. doi: 10.1002/ajmg.1320140413.
Zotero 插件