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Year Number of Results
1982 1
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1990 1
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2003 1
2004 1
2005 1
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2019 1
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Page 1
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 Free PMC article. Review.
Also, genetic variants of chromatin remodeling proteins and histone tail modifiers are involved in genetic disorders like alpha thalassemia X-linked mental retardation syndrome, CHARGE syndrome, Cockayne syndrome, Rett syndrome, systemic lupus erythematous, Rubinstein-Taybi syndr …
Also, genetic variants of chromatin remodeling proteins and histone tail modifiers are involved in genetic disorders like alpha thalassemia …
Clinical disorders of brain plasticity.
Johnston MV. Johnston MV. Brain Dev. 2004 Mar;26(2):73-80. doi: 10.1016/S0387-7604(03)00102-5. Brain Dev. 2004. PMID: 15036425 Review.
These include neurofibromatosis, tuberous sclerosis, Fragile X syndrome, other inherited forms of mental retardation, cretinism, Coffin-Lowry syndrome, lead poisoning, Rett syndrome, epilepsy, hypoxic-ischemic encephalopathy and cerebral palsy....
These include neurofibromatosis, tuberous sclerosis, Fragile X syndrome, other inherited forms of mental retardation, cretinism, Coffin …
Coffin-Lowry syndrome and schizophrenia: a family report.
Collacott RA, Warrington JS, Young ID. Collacott RA, et al. J Ment Defic Res. 1987 Jun;31 ( Pt 2):199-207. doi: 10.1111/j.1365-2788.1987.tb01356.x. J Ment Defic Res. 1987. PMID: 3625766
The family is believed to represent a further group of individuals with Coffin-Lowry syndrome. Additionally, one affected daughter has symptoms suggestive of schizophrenia and one affected son has severe sensorineural deafness....
The family is believed to represent a further group of individuals with Coffin-Lowry syndrome. Additionally, one affect …
The movement disorders of Coffin-Lowry syndrome.
Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, Tolmie JL, McWilliam RC, Zuberi SM. Stephenson JB, et al. Brain Dev. 2005 Mar;27(2):108-13. doi: 10.1016/j.braindev.2003.11.010. Brain Dev. 2005. PMID: 15668049
Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties and dysmorphism caused by mutations in the gene RSK2. ...One of our adult patients had several types of movement disorder and epilepsy that merged seamlessly: there …
Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties and dysmorphism caused by …
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Kim YM, Lee YJ, Park JH, Lee HD, Cheon CK, Kim SY, Hwang JY, Jang JH, Yoo HW. Kim YM, et al. Clin Genet. 2017 Dec;92(6):594-605. doi: 10.1111/cge.13038. Epub 2017 Aug 30. Clin Genet. 2017. PMID: 28425089
One boy with overgrowth had a TGFB3 gene mutation. In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with optic atrophy and Pelger-Huet anomaly syndrome with recurrent he …
One boy with overgrowth had a TGFB3 gene mutation. In the short stature group, Coffin-Lowry syndrome (CLS), trichorhino …
Germline mosaicism in Coffin-Lowry syndrome.
Jacquot S, Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A. Jacquot S, et al. Eur J Hum Genet. 1998 Nov-Dec;6(6):578-82. doi: 10.1038/sj.ejhg.5200230. Eur J Hum Genet. 1998. PMID: 9887375
We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation in the RSK2 gene, leading to in-phase skipping of exon 5. ...
We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation …
Stimulus-induced drop episodes in Coffin-Lowry syndrome.
Nelson GB, Hahn JS. Nelson GB, et al. Pediatrics. 2003 Mar;111(3):e197-202. doi: 10.1542/peds.111.3.e197. Pediatrics. 2003. PMID: 12612271
OBJECTIVE: Coffin-Lowry syndrome (CLS) is a rare disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering digits, and skeletal deformity. ...
OBJECTIVE: Coffin-Lowry syndrome (CLS) is a rare disorder characterized by moderate to severe mental retardation, facia …
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kühl SJ, Dean JCS, Pilz DT, Holder SE; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; McNeill A, Graziano C, Lefebvre V. Zawerton A, et al. Am J Hum Genet. 2019 Feb 7;104(2):246-259. doi: 10.1016/j.ajhg.2018.12.014. Epub 2019 Jan 17. Am J Hum Genet. 2019. PMID: 30661772 Free PMC article.
19 results