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

Year Number of Results
1995 1
1998 1
2000 1
2001 1
2006 1
2009 1
2010 1
2011 1
2012 1
2013 4
2014 3
2015 2
2017 1
2018 1
2019 2
2020 1
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2022 1
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Page 1
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
Abbreviations: AD: Alzheimer Disease; AFF4: AF4/FMR2 Family Member 4; ANKRD11: Ankyrin Repeat Domain 11; APC: Anaphase Promoter Complex; ASD: Atrial Septal Defect; ATRX: ATRX Chromatin Remodeler; ATRX: Alpha Thalassemia X-linked intellectual …
Abbreviations: AD: Alzheimer Disease; AFF4: AF4/FMR2 Family Member 4; ANKRD11: Ankyrin Repeat Domain 11; APC: Anaphase Promoter Complex; ASD …
X-linked mental deficiency.
des Portes V. des Portes V. Handb Clin Neurol. 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X. Handb Clin Neurol. 2013. PMID: 23622180 Review.
Several XLMR occur as severe early onset encephalopathies: Lowe oculocerebrorenal syndrome, ATR-X syndrome (alpha thalassemia/mental retardation X-linked), Allan-Herdon-Dudley syndrome (MCT8 gene). ...
Several XLMR occur as severe early onset encephalopathies: Lowe oculocerebrorenal syndrome, ATR-X syndrome (alpha thala …
ATRX and DAXX: Mechanisms and Mutations.
Dyer MA, Qadeer ZA, Valle-Garcia D, Bernstein E. Dyer MA, et al. Cold Spring Harb Perspect Med. 2017 Mar 1;7(3):a026567. doi: 10.1101/cshperspect.a026567. Cold Spring Harb Perspect Med. 2017. PMID: 28062559 Free PMC article. Review.
Alpha-thalassaemia.
Bernini LF, Harteveld CL. Bernini LF, et al. Baillieres Clin Haematol. 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. Baillieres Clin Haematol. 1998. PMID: 10872473 Review.
Most probably the acquired alpha-thalassaemia is due to the lack of soluble activators (or presence of repressors) which act in trans and affect the expression of the homologous clusters and are coded by genes not (closely) linked to the alpha genes. The ATR-X sy …
Most probably the acquired alpha-thalassaemia is due to the lack of soluble activators (or presence of repressors) which act in trans and af …
Pharmacological prospects of G-quadruplexes for neurological diseases using porphyrins.
Asamitsu S, Yabuki Y, Ikenoshita S, Wada T, Shioda N. Asamitsu S, et al. Biochem Biophys Res Commun. 2020 Oct 8;531(1):51-55. doi: 10.1016/j.bbrc.2020.01.054. Epub 2020 Jan 22. Biochem Biophys Res Commun. 2020. PMID: 31980177 Review.
For instance, mutations in a G4BP called ATRX lead to a neurodevelopmental disorder, ATR-X syndrome, which is associated with intellectual disability. ...Oral administration of 5-ALA improved cognitive dysfunction in an ATR-X syndrome mod …
For instance, mutations in a G4BP called ATRX lead to a neurodevelopmental disorder, ATR-X syndrome, which is associate …
Alpha thalassaemia-mental retardation, X linked.
Gibbons R. Gibbons R. Orphanet J Rare Dis. 2006 May 4;1:15. doi: 10.1186/1750-1172-1-15. Orphanet J Rare Dis. 2006. PMID: 16722615 Free PMC article. Review.
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. ...
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental dela …
[X-linked alpha-thalassemia/mental retardation syndrome].
Wada T. Wada T. Rinsho Byori. 2009 Apr;57(4):382-90. Rinsho Byori. 2009. PMID: 19489441 Review. Japanese.
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome, OMIM #301040) is one of the syndromes associated with abnormal epigenetic gene regulation, including ICF(DNMT3B), Rett (MECP2), Rubinstein-Taybi (CBP), Coffin-Lowry (RSK2), and Sotos (NSD …
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome, OMIM #301040) is one of the syndromes associate …
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
Gibbons RJ, Brueton L, Buckle VJ, Burn J, Clayton-Smith J, Davison BC, Gardner RJ, Homfray T, Kearney L, Kingston HM, et al. Gibbons RJ, et al. Am J Med Genet. 1995 Jan 30;55(3):288-99. doi: 10.1002/ajmg.1320550309. Am J Med Genet. 1995. PMID: 7726225 Review.
The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of alpha-thalassemia. ...
The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are severe psychomotor retardation, …
Mutant ATRX: uncovering a new therapeutic target for glioma.
Haase S, Garcia-Fabiani MB, Carney S, Altshuler D, Núñez FJ, Méndez FM, Núñez F, Lowenstein PR, Castro MG. Haase S, et al. Expert Opin Ther Targets. 2018 Jul;22(7):599-613. doi: 10.1080/14728222.2018.1487953. Epub 2018 Jun 20. Expert Opin Ther Targets. 2018. PMID: 29889582 Free PMC article. Review.
Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.
Horesh N, Pery R, Amiel I, Shwaartz C, Speter C, Guranda L, Gutman M, Hoffman A. Horesh N, et al. Am J Med Genet A. 2015 Nov;167A(11):2777-9. doi: 10.1002/ajmg.a.37252. Epub 2015 Jul 14. Am J Med Genet A. 2015. PMID: 26174613 Review.
Alpha thalassemia-mental retardation, X-linked (ATR-X) syndrome is a rare genetic disorder with a variety of clinical manifestations. Gastrointestinal symptoms described in this syndrome include difficulties in feeding, regurgitation and vomiting which may le …
Alpha thalassemia-mental retardation, X-linked (ATR-X) syndrome is a rare genetic disorder with a variety of clinical m …
23 results