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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
2021 1
2022 1
2023 0

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23 results

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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.
Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The best characterized cohesinopathy is Cornelia de Lange syndrome (CdLS), in which intellectual and growth retardations are the main phenotypic manifestati …
Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The best characterized cohesin …
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.
The fragile X syndrome is the most frequent syndrome, due to a dynamic mutation with a CGG triplet amplification. ...In girls, the clinical expression of the complete mutation varies according to the X chromosome inactivation profile. Several XLMR occu …
The fragile X syndrome is the most frequent syndrome, due to a dynamic mutation with a CGG triplet amplification. ...In …
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.
Larger deletions involving the tip of the short arm of chromosome 16 by truncation, interstitial deletions or translocations result in the contiguous gene syndrome ATR-16. In this complex syndrome alpha-thalassaemia is accompanied by mental retardation …
Larger deletions involving the tip of the short arm of chromosome 16 by truncation, interstitial deletions or translocations result in the c …
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.
We place emphasis on the chromatin remodeler ATRX, which is mutated in the developmental disorder for which it is named, alpha-thalassemia, mental retardation, X-linked syndrome, and at high frequency in a number of adult and pediatric tumors... …
We place emphasis on the chromatin remodeler ATRX, which is mutated in the developmental disorder for which it is named, alpha-tha …
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 sy …
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. ...Genital abnormalities are observed in 80 …
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profou …
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 h …
The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are sev …
[Red cell membrane disorders and thalassemia].
Wada H, Suemori SI. Wada H, et al. Rinsho Ketsueki. 2019;60(5):423-432. doi: 10.11406/rinketsu.60.423. Rinsho Ketsueki. 2019. PMID: 31168008 Review. Japanese.
Most Japanese patients with thalassemia have mild forms of the disease, which is different from reports in other countries. ...Therefore, it is incumbent on hematologists in Japan to be knowledgeable regarding prenatal diagnosis of and gene therapy for thalassemia.. …
Most Japanese patients with thalassemia have mild forms of the disease, which is different from reports in other countries. ...Theref …
The role of genetics in the establishment and maintenance of the epigenome.
Huidobro C, Fernandez AF, Fraga MF. Huidobro C, et al. Cell Mol Life Sci. 2013 May;70(9):1543-73. doi: 10.1007/s00018-013-1296-2. Epub 2013 Mar 10. Cell Mol Life Sci. 2013. PMID: 23474979 Review.
Indeed, the de novo methyltransferase 3B (DNMT3B) has been recently found to be mutated in several types of cancer and in the immunodeficiency, centromeric region instability and facial anomalies syndrome (ICF), in which these mutations could be related to the loss of glob …
Indeed, the de novo methyltransferase 3B (DNMT3B) has been recently found to be mutated in several types of cancer and in the immunodeficien …
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE. Basehore MJ, et al. Clin Genet. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30. Clin Genet. 2015. PMID: 24805811 Review.
Alpha-thalassemia intellectual disability, one of the recognizable X-linked disability syndromes, is characterized by short stature, microcephaly, distinctive facies, hypotonic appearance, cardiac and genital anomalies, and marked …
Alpha-thalassemia intellectual disability, one of the recognizable X-linked disability synd …
23 results