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X linked mental retardation.
Rejeb I, Ben Jemaa L, Chaabouni H. Rejeb I, et al. Tunis Med. 2009 May;87(5):311-8. Tunis Med. 2009. PMID: 19927760 Free article. Review.
AIM: The aim of this systematic review of the literature was to join together the results of several studies related to X linked mental retardation and to present various genes implicated in this disease. ...The key words used were "mental retardation", "X ch …
AIM: The aim of this systematic review of the literature was to join together the results of several studies related to X linked
XLMR genes: update 2007.
Chiurazzi P, Schwartz CE, Gecz J, Neri G. Chiurazzi P, et al. Eur J Hum Genet. 2008 Apr;16(4):422-34. doi: 10.1038/sj.ejhg.5201994. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197188 Review.
X-linked mental retardation (XLMR) is a common cause of inherited intellectual disability with an estimated prevalence of approximately 1/1000 males. Most XLMR conditions are inherited as X-linked recessive traits, although female carrier
X-linked mental retardation (XLMR) is a common cause of inherited intellectual disability with an estimated prev
[X-linked adrenoleukodystrophy].
Aubourg P. Aubourg P. Ann Endocrinol (Paris). 2007 Dec;68(6):403-11. doi: 10.1016/j.ando.2007.04.002. Epub 2007 May 29. Ann Endocrinol (Paris). 2007. PMID: 17532287 Review. French.
X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder. ...
X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder. ...
Genetic basis of Rett syndrome.
Van den Veyver IB, Zoghbi HY. Van den Veyver IB, et al. Ment Retard Dev Disabil Res Rev. 2002;8(2):82-6. doi: 10.1002/mrdd.10025. Ment Retard Dev Disabil Res Rev. 2002. PMID: 12112732 Review.
The origin of Rett syndrome has long been debated, but several observations have suggested an X-linked dominant inheritance pattern. We and others have pursued an exclusion-mapping strategy using DNA from a small number of familial Rett syndrome cases. ...Further re …
The origin of Rett syndrome has long been debated, but several observations have suggested an X-linked dominant inheritance pa …
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.
Hong KN, Eshraghian EA, Arad M, Argirò A, Brambatti M, Bui Q, Caspi O, de Frutos F, Greenberg B, Ho CY, Kaski JP, Olivotto I, Taylor MRG, Yesso A, Garcia-Pavia P, Adler ED. Hong KN, et al. J Am Coll Cardiol. 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014. J Am Coll Cardiol. 2023. PMID: 37821174 Free article. Review.
Danon disease is a rare X-linked autophagic vacuolar cardioskeletal myopathy associated with severe heart failure that can be accompanied with extracardiac neurologic, skeletal, and ophthalmologic manifestations. ...
Danon disease is a rare X-linked autophagic vacuolar cardioskeletal myopathy associated with severe heart failure that can be …
[A case of Menkes' kinky hair disease with a renal calculus and diverticula of the bladder].
Iuchi H, Mizunaga M, Miyata M, Kaneko S, Tokunaka S, Yachiku S, Oki J, Azuma M. Iuchi H, et al. Nihon Hinyokika Gakkai Zasshi. 1991 Jun;82(6):994-7. doi: 10.5980/jpnjurol1989.82.994. Nihon Hinyokika Gakkai Zasshi. 1991. PMID: 1908921 Free article. Review. Japanese.
Menkes' kinky hair disease is a poor prognostic congenital disease with X-linked recessive inheritance. This disease is clinically characterized by seizures, friable hair, growth failure, mental retardation and others. ...
Menkes' kinky hair disease is a poor prognostic congenital disease with X-linked recessive inheritance. This disease is clinic …