Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1996 1
1998 1
2004 1
2005 1
2007 1
2009 1
2010 2
2011 4
2013 2
2014 3
2018 1
2019 2
2020 3
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

22 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Intellectual disability, X-linked 41"
Page 1
The Changing Face of Adrenoleukodystrophy.
Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA, Majzoub JA. Zhu J, et al. Endocr Rev. 2020 Aug 1;41(4):577-93. doi: 10.1210/endrev/bnaa013. Endocr Rev. 2020. PMID: 32364223 Free PMC article. Review.
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. ...Cerebral ALD affects one-third of boys under the age of 12 and progresses to total disability and death without treatment. Hematopoietic stem cell tr …
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. ...Cerebral ALD aff …
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.
Bozarth XL, Lopez J, Fang H, Lee-Eng J, Duan Z, Deng X. Bozarth XL, et al. Genes (Basel). 2023 Mar 31;14(4):852. doi: 10.3390/genes14040852. Genes (Basel). 2023. PMID: 37107610 Free PMC article.
The X-linked SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gene regulation. ...Interestingly, compared to 33 LOFs detected throughout the gene, 7/8 non-LOFs are specifically located in the N/C-terminal …
The X-linked SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gen …
Mutations in GDI1 and X-linked non-specific mental retardation.
Dell'Amico MC, Vivani P, Miccoli M, Cecconi M, Baggiani A. Dell'Amico MC, et al. Ann Ig. 2011 Jan-Feb;23(1):71-9. Ann Ig. 2011. PMID: 21736009
It is estimated that from 1 to 3% of the general population is affected with MR. MR or "intellectual disability" can be caused by genetic as well as environmental causes that act on the development and functioning of the CNS prenatally, perinatally or postnatally. . …
It is estimated that from 1 to 3% of the general population is affected with MR. MR or "intellectual disability" can be caused …
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR. Agrawal N, et al. Eur J Med Genet. 2022 Mar;65(3):104447. doi: 10.1016/j.ejmg.2022.104447. Epub 2022 Feb 8. Eur J Med Genet. 2022. PMID: 35144014
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. ...Positive family history was present in 31% (41/130) of patients. Developmental delay and intellectual disability were the ma …
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. . …
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Thai MHN, Gardner A, Redpath L, Mattiske T, Dearsley O, Shaw M, Vulto-van Silfhout AT, Pfundt R, Dixon J, McGaughran J, Pérez-Jurado LA, Gécz J, Shoubridge C. Thai MHN, et al. Hum Mutat. 2020 Aug;41(8):1407-1424. doi: 10.1002/humu.24034. Epub 2020 Jun 2. Hum Mutat. 2020. PMID: 32383243
The need to interpret the pathogenicity of novel missense variants of unknown significance identified in the homeodomain of X-chromosome aristaless-related homeobox (ARX) gene prompted us to assess the utility of conservation and constraint across these domains in multiple gen …
The need to interpret the pathogenicity of novel missense variants of unknown significance identified in the homeodomain of X-chromosome ari …
Natural history of a cohort of ABCD1 variant female carriers.
Schirinzi T, Vasco G, Aiello C, Rizzo C, Sancesario A, Romano A, Favetta M, Petrarca M, Paone L, Castelli E, Bertini ES, Cappa M. Schirinzi T, et al. Eur J Neurol. 2019 Feb;26(2):326-332. doi: 10.1111/ene.13816. Epub 2018 Nov 9. Eur J Neurol. 2019. PMID: 30295399
BACKGROUND AND PURPOSE: The therapeutic scenario of X-linked adrenoleukodystrophy (X-ALD) is rapidly changing. Whereas the disease is well characterized in men, the condition remains to be fully clarified in women carrying ATP binding cassette subfamily D member 1 ( …
BACKGROUND AND PURPOSE: The therapeutic scenario of X-linked adrenoleukodystrophy (X-ALD) is rapidly changing. Whereas the dis …
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, Watkins PA, Snowden A, Moser A, Naidu S, Bibat G, Hewson S, Tam K, Clarke JT, Charnas L, Stetten G, Karczeski B, Cutting G, Steinberg S. Wang Y, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):160-6. doi: 10.1016/j.ymgme.2011.05.016. Epub 2011 Jun 22. Mol Genet Metab. 2011. PMID: 21700483
X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting adrenal glands, testes and myelin stability that is caused by mutations in the ABCD1 (NM_000033) gene. ...
X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting adrenal glands, testes and myelin stabil …
Clinical whole exome sequencing in child neurology practice.
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Srivastava S, et al. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30. Ann Neurol. 2014. PMID: 25131622
Nineteen patients had a single autosomal dominant (AD) disorder, 11 had a single autosomal recessive (AR) disorder, 1 had an X-linked dominant disorder, and 1 had both an AD and an AR disorder. The 32 patients with pathogenic or likely pathogenic variants exhibited …
Nineteen patients had a single autosomal dominant (AD) disorder, 11 had a single autosomal recessive (AR) disorder, 1 had an X-lin …
Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy.
Uziel G, Bertini E, Bardelli P, Rimoldi M, Gambetti M. Uziel G, et al. Dev Neurosci. 1991;13(4-5):274-9. doi: 10.1159/000112173. Dev Neurosci. 1991. PMID: 1817033 Clinical Trial.
We report the biochemical and clinical results obtained during a dietary erucic acid (C22:1) therapy in 20 patients affected by X-linked adrenoleukodystrophy (ALD). Six patients were very severely affected, 9 had milder neurological symptoms and 5 were presymptomati …
We report the biochemical and clinical results obtained during a dietary erucic acid (C22:1) therapy in 20 patients affected by X- …
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE. Groeneweg S, et al. Lancet Diabetes Endocrinol. 2019 Sep;7(9):695-706. doi: 10.1016/S2213-8587(19)30155-X. Epub 2019 Jul 31. Lancet Diabetes Endocrinol. 2019. PMID: 31377265 Free PMC article. Clinical Trial.
BACKGROUND: Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor disability and high serum tri-iodothyronine (T(3)) concentrations (Allan-Herndon-Dudley syndrome). ...
BACKGROUND: Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor …
22 results