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Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.
Liu S, Li L, Wu H, Pei P, Zheng X, Pan H, Bao X, Qi Y, Ma Y. Liu S, et al. Mol Genet Genomic Med. 2022 Jan;10(1):e1844. doi: 10.1002/mgg3.1844. Epub 2021 Nov 26. Mol Genet Genomic Med. 2022. PMID: 34826210 Free PMC article.
BACKGROUND: Variants in the ATP binding cassette protein subfamily D member 1 (ABCD1) gene are known to cause X-linked adrenoleukodystrophy (X-ALD). This study focused on the characteristics of ABCD1 variants in Chinese X-ALD families and elucidated the value of gen …
BACKGROUND: Variants in the ATP binding cassette protein subfamily D member 1 (ABCD1) gene are known to cause X-linked adrenol …
Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families.
Costakos D, Abramson RK, Edwards JG, Rizzo WB, Best RG. Costakos D, et al. Am J Med Genet. 1991 Dec 1;41(3):295-300. doi: 10.1002/ajmg.1320410307. Am J Med Genet. 1991. PMID: 1789282
One hundred and thirty-six individuals with a family history of X-linked adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) were given a questionnaire surveying their sociodemographic characteristics, knowledge of X-linked inheritance, and attit …
One hundred and thirty-six individuals with a family history of X-linked adrenoleukodystrophy (ALD) or adrenomyeloneuropathy ( …
Laboratory policies and practices for the genetic testing of children: a survey of the Helix network.
Wertz DC, Reilly PR. Wertz DC, et al. Am J Hum Genet. 1997 Nov;61(5):1163-8. doi: 10.1086/301593. Am J Hum Genet. 1997. PMID: 9345088 Free PMC article.
Majorities had received requests to test healthy children for carrier status for 10 of 15 recessive or X-linked disorders and had tested children, <12 years of age, for 6 of these disorders, including cystic fibrosis, hemophilia A, fragile X syndrome, and Duchenn …
Majorities had received requests to test healthy children for carrier status for 10 of 15 recessive or X-linked disorders and …
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.
de Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJ, Sandkuijl LA, Oostra BA, Tibben A, Niermeijer MF. de Vries BB, et al. Am J Hum Genet. 1997 Sep;61(3):660-7. doi: 10.1086/515496. Am J Hum Genet. 1997. PMID: 9326332 Free PMC article.
The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X-linked inheritance, and consequences for relatives all prompt for dia …
The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fr …
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.
Zahorakova D, Lelkova P, Gregor V, Magner M, Zeman J, Martasek P. Zahorakova D, et al. J Hum Genet. 2016 Jul;61(7):617-25. doi: 10.1038/jhg.2016.19. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984561
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by developmental regression with loss of motor, communication and social skills, onset of stereotypic hand movements and often seizures. ...We established a high-resolution melting (HRM) te …
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by developmental regression with loss of motor, c …
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS. DeBrosse SD, et al. Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23021068
Causes of death included severe lactic acidosis, respiratory failure, and infection. In subjects surviving past 6 months, a broad range of intellectual outcomes was observed. Of 42 subjects whose intellectual abilities were professionally evaluated, 19% had normal o …
Causes of death included severe lactic acidosis, respiratory failure, and infection. In subjects surviving past 6 months, a broad range of …