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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1988 1
1991 1
1994 1
1998 1
1999 1
2000 1
2001 2
2002 2
2003 2
2004 1
2005 1
2008 1
2013 1
2014 3
2015 2
2018 1
2019 1
2020 2
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2023 2
2024 0

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26 results

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Page 1
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C. Vilvarajan S, et al. Genes (Basel). 2023 Aug 11;14(8):1607. doi: 10.3390/genes14081607. Genes (Basel). 2023. PMID: 37628658 Free PMC article. Review.
Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the MECP2 gene in most affected individuals. The Rett syndrome Multidisciplinary Management clinic at The Children's Hospital at Westmead, Sydney, A …
Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the MECP2 gene …
Monocarboxylate Transporters (SLC16): Function, Regulation, and Role in Health and Disease.
Felmlee MA, Jones RS, Rodriguez-Cruz V, Follman KE, Morris ME. Felmlee MA, et al. Pharmacol Rev. 2020 Apr;72(2):466-485. doi: 10.1124/pr.119.018762. Pharmacol Rev. 2020. PMID: 32144120 Free PMC article. Review.
The solute carrier family 16 (SLC16) is comprised of 14 members of the monocarboxylate transporter (MCT) family that play an essential role in the transport of important cell nutrients and for cellular metabolism and pH regulation. ...Expressed at the blood brain barrier, …
The solute carrier family 16 (SLC16) is comprised of 14 members of the monocarboxylate transporter (MCT) family that play an essentia …
Genetic cerebellar ataxias.
Storey E. Storey E. Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192506 Review.
Though the SCAs can be difficult to separate clinically, variations in prevalence in different populations, together with various clinical and radiological features, at least help to order the pretest probabilities. The X-linked disorder, fragile-X tremor ataxia …
Though the SCAs can be difficult to separate clinically, variations in prevalence in different populations, together with various clinical a …
X-linked mental retardation.
Lisik MZ, Sieron AL. Lisik MZ, et al. Med Sci Monit. 2008 Nov;14(11):RA221-9. Med Sci Monit. 2008. PMID: 18971887 Review.
More than 200 XLMR conditions have been reported and 76 genes has been linked to them. XLMR conditions are commonly subdivided into syndromic and nonsyndromic forms on the basis of clinical presentation. The distinction between these forms of XLMR is gradually becom …
More than 200 XLMR conditions have been reported and 76 genes has been linked to them. XLMR conditions are commonly subdivided into …
The X chromosome and fragile X mental retardation.
Oostra BA, Willemsen R. Oostra BA, et al. Cytogenet Genome Res. 2002;99(1-4):257-64. doi: 10.1159/000071602. Cytogenet Genome Res. 2002. PMID: 12900573 Review.
Fragile X syndrome represents the most common inherited cause of mental retardation. ...For most X-chromosomal diseases, female carriers do not express the phenotype. A clear exception is fragile X syndrome. It is clear that more than 50% of the neurons have to expr …
Fragile X syndrome represents the most common inherited cause of mental retardation. ...For most X-chromosomal diseases, female carri …
Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment.
Mohamed S, He QQ, Singh AA, Ferro V. Mohamed S, et al. Adv Carbohydr Chem Biochem. 2020;77:71-117. doi: 10.1016/bs.accb.2019.09.001. Epub 2019 Oct 26. Adv Carbohydr Chem Biochem. 2020. PMID: 33004112 Review.
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disease caused by mutations of the gene encoding the lysosomal enzyme iduronate-2-sulfatase (IDS), the role of which is to hydrolytically remove O-linked sulfates fro …
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disease caused by mutation …
mRNA metabolism and neuronal disease.
Linder B, Fischer U, Gehring NH. Linder B, et al. FEBS Lett. 2015 Jun 22;589(14):1598-606. doi: 10.1016/j.febslet.2015.04.052. Epub 2015 May 13. FEBS Lett. 2015. PMID: 25957814 Free article. Review.
Here we discuss three prominent genetic diseases that fall into this category, namely spinal muscular atrophy (SMA), retinitis pigmentosa (RP) and X-linked syndromic mental retardation (XLMR). Whereas SMA and RP can be directly linked to mRNA processing, XLMR …
Here we discuss three prominent genetic diseases that fall into this category, namely spinal muscular atrophy (SMA), retinitis pigmentosa (R …
MZ female twins discordant for X-linked diseases: a review.
Tiberio G. Tiberio G. Acta Genet Med Gemellol (Roma). 1994;43(3-4):207-14. doi: 10.1017/s0001566000001963. Acta Genet Med Gemellol (Roma). 1994. PMID: 8588495 Review.
The 20 reported cases of MZ female twins discordant for X-linked diseases are reviewed. In such twins the X-inactivation pattern is opposite skewing (abnormal allele inactivated in most cells of the normal twin, and normal allele inactivated in most cells of the aff …
The 20 reported cases of MZ female twins discordant for X-linked diseases are reviewed. In such twins the X-inactivation patte …
Inborn errors of trace element metabolism.
Danks DM. Danks DM. Clin Endocrinol Metab. 1985 Aug;14(3):591-615. doi: 10.1016/s0300-595x(85)80008-6. Clin Endocrinol Metab. 1985. PMID: 3905081 Review.
Effects due to copper deficiency are seen in Menkes' disease, in X-linked cutis laxa and in the X-linked series of mottled mutants in the mouse. ...
Effects due to copper deficiency are seen in Menkes' disease, in X-linked cutis laxa and in the X-linked series …
Some problems in the genetics of X-linked mental retardation.
Tariverdian G, Vogel F. Tariverdian G, et al. Cytogenet Cell Genet. 2000;91(1-4):278-84. doi: 10.1159/000056857. Cytogenet Cell Genet. 2000. PMID: 11173869 Review.
X-linked mental retardation has recently become one of the most interesting genetic anomalies. ...The non-syndromal types do not show such specific features; here, the X-linked mode of inheritance is the only indicator. ...
X-linked mental retardation has recently become one of the most interesting genetic anomalies. ...The non-syndromal typ …
26 results