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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 104"
Page 1
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Nagarajan B, et al. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. Epilepsia Open. 2023. PMID: 37583270 Free PMC article.
RESULTS: Of 124 probands (60% boys, history of consanguinity in 15%) with genetic IESS, 105 had single gene disorders (104 nuclear and one mitochondrial), including one with concurrent triple repeat disorder (fragile X syndrome), and 19 had chromosomal disorders. Of 105 si …
RESULTS: Of 124 probands (60% boys, history of consanguinity in 15%) with genetic IESS, 105 had single gene disorders (104 nuclear an …
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.
Rattay TW, Rautenberg M, Söhn AS, Hengel H, Traschütz A, Röben B, Hayer SN, Schüle R, Wiethoff S, Zeltner L, Haack TB, Cegan A, Schöls L, Schleicher E, Peter A. Rattay TW, et al. Sci Rep. 2020 Sep 15;10(1):15093. doi: 10.1038/s41598-020-71248-8. Sci Rep. 2020. PMID: 32934269 Free PMC article.
X-linked Adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene resulting in the accumulation of very long chain fatty acids (VLCFA). ...The best differentiation of Non-X-ALD and X-ALD individuals was obtained with a cutoff value of < 1.0 for the C …
X-linked Adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene resulting in the accumulation of very long chai …
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.
Peters C, Charnas LR, Tan Y, Ziegler RS, Shapiro EG, DeFor T, Grewal SS, Orchard PJ, Abel SL, Goldman AI, Ramsay NK, Dusenbery KE, Loes DJ, Lockman LA, Kato S, Aubourg PR, Moser HW, Krivit W. Peters C, et al. Blood. 2004 Aug 1;104(3):881-8. doi: 10.1182/blood-2003-10-3402. Epub 2004 Apr 8. Blood. 2004. PMID: 15073029 Free article.
Cerebral X-linked adrenoleukodystrophy (X-ALD) is a disorder of very-long-chain fatty acid metabolism, adrenal insufficiency, and cerebral demyelination. ...Baseline neurologic and neuropsychological function, degree of disability, and neuroradiologic status …
Cerebral X-linked adrenoleukodystrophy (X-ALD) is a disorder of very-long-chain fatty acid metabolism, adrenal insufficiency, …
A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.
Greene D; NIHR BioResource; Richardson S, Turro E. Greene D, et al. Am J Hum Genet. 2017 Jul 6;101(1):104-114. doi: 10.1016/j.ajhg.2017.05.015. Epub 2017 Jun 29. Am J Hum Genet. 2017. PMID: 28669401 Free PMC article.
Variant-specific prior information derived from allele frequency databases, consequence prediction algorithms, or genomic datasets can be integrated into the inference. ...
Variant-specific prior information derived from allele frequency databases, consequence prediction algorithms, or genomic datasets ca …
Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan.
Nakamura K, Sakai N, Hossain MA, Eisengart JB, Yamamoto T, Tanizawa K, So S, Schmidt M, Sato Y. Nakamura K, et al. Orphanet J Rare Dis. 2024 Mar 7;19(1):104. doi: 10.1186/s13023-024-03112-1. Orphanet J Rare Dis. 2024. PMID: 38454486 Free PMC article.
BACKGROUND: Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-brain barrier, was approved in Japan in 2021 as …
BACKGROUND: Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly af …
CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.
Della Vecchia S, Lopergolo D, Trovato R, Pasquariello R, Ferrari AR, Bartolini E. Della Vecchia S, et al. Seizure. 2023 Jan;104:32-37. doi: 10.1016/j.seizure.2022.11.014. Epub 2022 Nov 29. Seizure. 2023. PMID: 36476360 Free article.
BACKGROUND: Cabezas syndrome is a rare X-linked disease caused by mutations in CUL4B and characterized by developmental delay/intellectual disability, somatic dysmorphisms, behavioural disorder, ataxia/tremors. ...METHODS: With this in mind, we charact …
BACKGROUND: Cabezas syndrome is a rare X-linked disease caused by mutations in CUL4B and characterized by developmental delay/ …
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome.
Walpole SM, Ronce N, Grayson C, Dessay B, Yates JR, Trump D, Toutain A. Walpole SM, et al. Hum Genet. 1999 May;104(5):410-1. doi: 10.1007/s004390050976. Hum Genet. 1999. PMID: 10394933
Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, unusual dental morphology, dysmorphic facial features, and developmental delay in some cases. ...We previously identified a human homologue …
Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, …
Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein.
Pan H, Zhu F, Chen K, Zhang Y. Pan H, et al. J Genet. 2024;103:14. J Genet. 2024. PMID: 38562040 Free article.
Intellectual developmental disorder, X-linked 104 (XLID104), caused by the FRMPD4 gene variant, is a rare X-linked genetic disease that primarily manifests as intellectual disability (ID) and language delay, and may be accom …
Intellectual developmental disorder, X-linked 104 (XLID104), caused by the FRMPD4 gene variant, is a rare X …
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M. Imbard A, et al. Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008. Epub 2011 Aug 18. Mol Genet Metab. 2011. PMID: 21914562
BACKGROUND: Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most cases result from mutations in the X-linked gene for the pyruvate dehydrogenase E1alpha subunit (PDHA1) while a few cases result from mutations in …
BACKGROUND: Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most cases result from mut …
Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8.
Wémeau JL, Pigeyre M, Proust-Lemoine E, d'Herbomez M, Gottrand F, Jansen J, Visser TJ, Ladsous M. Wémeau JL, et al. J Clin Endocrinol Metab. 2008 Jun;93(6):2084-8. doi: 10.1210/jc.2007-2719. Epub 2008 Mar 11. J Clin Endocrinol Metab. 2008. PMID: 18334584
CONTEXT: Mutations of the monocarboxylate transporter 8 (MCT8) gene determine a distinct X-linked phenotype of severe psychomotor retardation and consistently elevated T(3) levels. ...He had tachycardia (104 beats/min), high SHBG level (261 nmol/liter), and e …
CONTEXT: Mutations of the monocarboxylate transporter 8 (MCT8) gene determine a distinct X-linked phenotype of severe psychomo …