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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 20"
Page 1
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C. Vilvarajan S, et al. Genes (Basel). 2023 Aug 11;14(8):1607. doi: 10.3390/genes14081607. Genes (Basel). 2023. PMID: 37628658 Free PMC article. Review.
We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professionals to enable early diagnosis and a streamlined enrolment approach for future clinical trials. Rett syndrome, a complex X-linked …
We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professiona …
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. de Ligt J, et al. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3. N Engl J Med. 2012. PMID: 23033978 Free article.
A data-analysis procedure was developed to identify and classify de novo, autosomal recessive, and X-linked mutations. In addition, we used high-throughput resequencing to confirm new candidate genes in 765 persons with intellectual disability ( …
A data-analysis procedure was developed to identify and classify de novo, autosomal recessive, and X-linked mutations. In addi …
A molecular genetics view on Mucopolysaccharidosis Type II.
Verma S, Pantoom S, Petters J, Pandey AK, Hermann A, Lukas J. Verma S, et al. Mutat Res Rev Mutat Res. 2021 Jul-Dec;788:108392. doi: 10.1016/j.mrrev.2021.108392. Epub 2021 Aug 8. Mutat Res Rev Mutat Res. 2021. PMID: 34893157 Review.
Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. ...This inadvertent accumulation causes damage in multiple organs and leads either to a severe neurological course or to an attenuated co …
Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. ...This …
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Bayat A, et al. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9. Epilepsy Res. 2021. PMID: 33508693 Review.
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. Seizures are often treatment refractory, and patients hav …
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PI …
Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy.
Berger J, Pujol A, Aubourg P, Forss-Petter S. Berger J, et al. Brain Pathol. 2010 Jul;20(4):845-56. doi: 10.1111/j.1750-3639.2010.00393.x. Brain Pathol. 2010. PMID: 20626746 Free PMC article. Review.
Mutations in the ABCD1 gene cause the clinical spectrum of the neurometabolic disorder X-linked adrenoleukodystrophy/adrenomyeloneuropathy (X-ALD/AMN). ...Both treatments, however, are only accessible to a subset of X-ALD patients, mainly because of the lack of mark …
Mutations in the ABCD1 gene cause the clinical spectrum of the neurometabolic disorder X-linked adrenoleukodystrophy/adrenomye …
General aspects and neuropathology of X-linked adrenoleukodystrophy.
Ferrer I, Aubourg P, Pujol A. Ferrer I, et al. Brain Pathol. 2010 Jul;20(4):817-30. doi: 10.1111/j.1750-3639.2010.00390.x. Brain Pathol. 2010. PMID: 20626743 Free PMC article. Review.
There is a lack of phenotype-genotype correlations, as the same ABCD1 gene mutation may be associated with different phenotypes in the same family, suggesting that genetic, epigenetic, environmental and stochastic factors are probably contributory to the development and course …
There is a lack of phenotype-genotype correlations, as the same ABCD1 gene mutation may be associated with different phenotypes in the same …
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
The neurological features of JSRD include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. ...JSRD are classified in six phenotypic subgroups: Pure JS; JS with ocular defect; JS with renal …
The neurological features of JSRD include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye moveme …
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 …
Neurological findings in incontinentia pigmenti; a review.
Meuwissen ME, Mancini GM. Meuwissen ME, et al. Eur J Med Genet. 2012 May;55(5):323-31. doi: 10.1016/j.ejmg.2012.04.007. Epub 2012 May 4. Eur J Med Genet. 2012. PMID: 22564885 Review.
Incontinentia Pigmenti is a rare X-linked multisystem disorder with well described and pathognomonic skin manifestations. ...
Incontinentia Pigmenti is a rare X-linked multisystem disorder with well described and pathognomonic skin manifestations. ...
Does genotype predict phenotype in Rett syndrome?
Ham AL, Kumar A, Deeter R, Schanen NC. Ham AL, et al. J Child Neurol. 2005 Sep;20(9):768-78. doi: 10.1177/08830738050200091301. J Child Neurol. 2005. PMID: 16225834 Review.
Mutations in the X-linked gene encoding the methyl-CpG binding protein MeCP2 are the primary cause of classic and atypical Rett syndrome and have recently been shown to contribute to other neurodevelopmental disorders of varying severity. ...
Mutations in the X-linked gene encoding the methyl-CpG binding protein MeCP2 are the primary cause of classic and atypical Ret …
56 results