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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 41"
Page 1
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. ...Here, we report on phenotypes and genotypes of three females with DEE and de novo SMC1A variants, including a novel splice- …
The X-linked SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gen …
Epilepsy in children with leukodystrophies.
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y. Zhang J, et al. J Neurol. 2020 Sep;267(9):2612-2618. doi: 10.1007/s00415-020-09889-y. Epub 2020 May 9. J Neurol. 2020. PMID: 32388833
BACKGROUND: Epilepsy might be one of the manifestations in children with leukodystrophies, but the incidence of epilepsy in different types of leukodystrophies is unclear yet. METHODS: A retrospective observational cohort study was performed on children diagnosed with leuk …
BACKGROUND: Epilepsy might be one of the manifestations in children with leukodystrophies, but the incidence of epilepsy in different types …
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Gras M, et al. J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. J Med Genet. 2024. PMID: 37879892 Review.
While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal genitalia syndrome to syndromic and non-syndromic intellectual disability (ID), its phenotypic delineation in females is incomple …
While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal gen …
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. ...An attempt was also made to establish a genotype-phenotype correlation. Positive family history was present in 31% (41/130) of pati …
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. . …
Characteristics of Japanese patients with X-linked adrenoleukodystrophy and concerns of their families from the 1st registry system.
Sakurai K, Ohashi T, Shimozawa N, Joo-Hyun S, Okuyama T, Ida H. Sakurai K, et al. Brain Dev. 2019 Jan;41(1):50-56. doi: 10.1016/j.braindev.2018.07.007. Epub 2018 Aug 1. Brain Dev. 2019. PMID: 30077509
OBJECTIVE: Early diagnosis is critical in achieving the best outcome following hematopoietic stem cell transplantation (HSCT) for X-linked adrenoleukodystrophy (X-ALD). We used a questionnaire to gather detailed clinical information and information regarding the anx …
OBJECTIVE: Early diagnosis is critical in achieving the best outcome following hematopoietic stem cell transplantation (HSCT) for X- …
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 …
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 …
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J. Lesca G, et al. Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039113
We report a family including 10 males and 1 female affected with profound non-specific intellectual disability (ID) which was linked to a 30-cM region extending from Xp11.21 (ALAS2) to Xq22.3 (COL4A5). ...Cognitive impairment, varying from borderline to profound ID …
We report a family including 10 males and 1 female affected with profound non-specific intellectual disability (ID) which was …
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
Cheillan D, Joncquel-Chevalier Curt M, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Portes VD, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Tardieu M, Porchet N, Vianey-Saban C, Vamecq J. Cheillan D, et al. Orphanet J Rare Dis. 2012 Dec 13;7:96. doi: 10.1186/1750-1172-7-96. Orphanet J Rare Dis. 2012. PMID: 23234264 Free PMC article.
Six GAMT [N-guanidinoacetatemethyltransferase (EC 2.1.1.2)] and 10 X-linked creatine transporter (SLC6A8) but no AGAT (GATM) [L-arginine/glycine amidinotransferase (EC 2.1.4.1)] deficient patients were identified in this manner. ...The only SLC6A8-deficient female p …
Six GAMT [N-guanidinoacetatemethyltransferase (EC 2.1.1.2)] and 10 X-linked creatine transporter (SLC6A8) but no AGAT (GATM) [ …
Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
Habekost CT, Schestatsky P, Torres VF, de Coelho DM, Vargas CR, Torrez V, Oses JP, Portela LV, Pereira Fdos S, Matte U, Jardim LB. Habekost CT, et al. Orphanet J Rare Dis. 2014 Jan 13;9:6. doi: 10.1186/1750-1172-9-6. Orphanet J Rare Dis. 2014. PMID: 24410807 Free PMC article.
BACKGROUND: Neurologic impairments in female heterozygotes for X-linked Adrenoleukodystrophy (X-ALD) are poorly understood. Our aims were to describe the neurological and neurophysiological manifestations of a cohort of X-ALD heterozygotes, and to correlate them wit …
BACKGROUND: Neurologic impairments in female heterozygotes for X-linked Adrenoleukodystrophy (X-ALD) are poorly understood. Ou …
41 results