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1975 2
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260 results

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Page 1
Coffin-Lowry syndrome.
Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A. Pereira PM, et al. Eur J Hum Genet. 2010 Jun;18(6):627-33. doi: 10.1038/ejhg.2009.189. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888300 Free PMC article. Review.
Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. ...
Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients …
Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction.
Fischer M, Raabe T. Fischer M, et al. Front Behav Neurosci. 2018 May 23;12:106. doi: 10.3389/fnbeh.2018.00106. eCollection 2018. Front Behav Neurosci. 2018. PMID: 29875643 Free PMC article. Review.
Loss of function mutations in the rsk2 gene cause Coffin-Lowry syndrome (CLS), which is associated with multiple symptoms including severe mental disabilities. ...
Loss of function mutations in the rsk2 gene cause Coffin-Lowry syndrome (CLS), which is associated with multiple sympto …
Coffin-Lowry syndrome in Chinese.
Fung JLF, Rethanavelu K, Luk HM, Ho MSP, Lo IFM, Chung BHY. Fung JLF, et al. Am J Med Genet A. 2019 Oct;179(10):2043-2048. doi: 10.1002/ajmg.a.61323. Epub 2019 Aug 9. Am J Med Genet A. 2019. PMID: 31400053
Coffin-Lowry syndrome (CLS) is a well-described syndrome characterized by intellectual disability, growth retardation, recognizable dysmorphic features, and skeletal changes. It is an X-linked syndrome where males are more severely affected and …
Coffin-Lowry syndrome (CLS) is a well-described syndrome characterized by intellectual disability, growth retard …
Coffin-Lowry syndrome: clinical and molecular features.
Hanauer A, Young ID. Hanauer A, et al. J Med Genet. 2002 Oct;39(10):705-13. doi: 10.1136/jmg.39.10.705. J Med Genet. 2002. PMID: 12362025 Free PMC article. Review.
The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. ...
The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with …
The Coffin-Lowry syndrome.
Young ID. Young ID. J Med Genet. 1988 May;25(5):344-8. doi: 10.1136/jmg.25.5.344. J Med Genet. 1988. PMID: 3290491 Free PMC article. Review. No abstract available.
[Coffin-Lowry syndrome].
Guitti JC, Peres FF. Guitti JC, et al. J Pediatr (Rio J). 2000 Jul-Aug;76(4):305-9. doi: 10.2223/jped.8. J Pediatr (Rio J). 2000. PMID: 14647661 Portuguese.
OBJECTIVE: To promote the diffusion of the knowledge on the Coffin-Lowry syndrome and to contribute to the outline of the disease.METHODS: Case report.RESULTS: The clinical signs of a patient with the Coffin-Lowry syndrome are described a …
OBJECTIVE: To promote the diffusion of the knowledge on the Coffin-Lowry syndrome and to contribute to the outline of t …
Stimulus-induced drop episodes in Coffin-Lowry syndrome.
Hahn JS, Hanauer A. Hahn JS, et al. Eur J Med Genet. 2012 May;55(5):335-7. doi: 10.1016/j.ejmg.2012.03.004. Epub 2012 Mar 21. Eur J Med Genet. 2012. PMID: 22490425 Review.
The Coffin-Lowry syndrome (CLS) is a rare but well-defined X-linked semidominant syndrome characterized by psychomotor and growth retardation, and progressive skeletal changes. ...
The Coffin-Lowry syndrome (CLS) is a rare but well-defined X-linked semidominant syndrome characterized by psych …
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion.
Zeniou-Meyer M, Gambino F, Ammar MR, Humeau Y, Vitale N. Zeniou-Meyer M, et al. Cell Mol Neurobiol. 2010 Nov;30(8):1401-6. doi: 10.1007/s10571-010-9578-9. Cell Mol Neurobiol. 2010. PMID: 21061166 Review.
Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. ...
Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, characterized in male patients by psych …
Coffin-Lowry syndrome.
Ahuja SR, Upadhye S, Kulkarni HV, Kulkarni MV. Ahuja SR, et al. Indian J Pediatr. 2003 Dec;70(12):1001-2. doi: 10.1007/BF02723830. Indian J Pediatr. 2003. PMID: 14719793
The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dysmorphic features and skeletal anomalies. The authors report a one and half year old boy with classical features of this syndrome. Ear …
The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dys …
Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes.
Hunter AG. Hunter AG. Am J Med Genet. 2002 Sep 1;111(4):345-55. doi: 10.1002/ajmg.10574. Am J Med Genet. 2002. PMID: 12210291 Review.
The Coffin-Lowry syndrome has become well established since the first report of affected patients by Coffin et al. [1966: Am J Dis Child 112:205-213]. ...This paper updates the medical histories of our patients and summarizes the clinically important c …
The Coffin-Lowry syndrome has become well established since the first report of affected patients by Coffin et a …
260 results