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Quoted phrase not found in phrase index: "Syndromic X-linked intellectual disability Chudley-Schwartz type"
Page 1
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Reichert SC, Li R, A Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodríguez-Palmero A, Fourcade S, Schlüter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R. Reichert SC, et al. Clin Genet. 2020 Jul;98(1):91-98. doi: 10.1111/cge.13765. Epub 2020 May 15. Clin Genet. 2020. PMID: 32335897
The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms with those observed in HNRNPH2-related X-linked intellectual disability, Bain type (MRXSB), specif …
The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms …
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Masnada S, Sarret C, Antonello CE, Fadilah A, Krude H, Mura E, Mordekar S, Nicita F, Olivotto S, Orcesi S, Porta F, Remerand G, Siri B, Wilpert NM, Amir-Yazdani P, Bertini E, Schuelke M, Bernard G, Boespflug-Tanguy O, Tonduti D. Masnada S, et al. Mol Genet Metab. 2022 Jan;135(1):109-113. doi: 10.1016/j.ymgme.2021.12.003. Epub 2021 Dec 16. Mol Genet Metab. 2022. PMID: 34969638
METHODS: Each patient recruited was video-recorded during a routine outpatient visit according to a predefined protocol. The presence and the type of MDs were evaluated. The type of MD was blindly scored by two child neurologists experts in inherited white matter di …
METHODS: Each patient recruited was video-recorded during a routine outpatient visit according to a predefined protocol. The presence and th …
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. ...We report recent advances in the structural biological elucidation of I2S enzyme that that promises to improve our future understanding o …
Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. …
Mucopolysaccharidosis type II, Hunter's syndrome.
Tylki-Szymańska A. Tylki-Szymańska A. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:107-13. Pediatr Endocrinol Rev. 2014. PMID: 25345092 Review.
Hunter syndrome is caused by deficiency of the lysososmal enzyme iduronate-2-sulphatase that cleaves O-linked sulphate moieties from dermatan sulphate and heparan sulphate and leads to accumulation of GAGs. The disease is a X-linked condition affecting males …
Hunter syndrome is caused by deficiency of the lysososmal enzyme iduronate-2-sulphatase that cleaves O-linked sulphate moieties from …
Simpson-Golabi-Behmel syndrome types I and II.
Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P. Tenorio J, et al. Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. Orphanet J Rare Dis. 2014. PMID: 25238977 Free PMC article. Review.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, hear …
Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalit …
Molecular diagnosis of Menkes disease: genotype-phenotype correlation.
Møller LB, Mogensen M, Horn N. Møller LB, et al. Biochimie. 2009 Oct;91(10):1273-7. doi: 10.1016/j.biochi.2009.05.011. Epub 2009 Jun 6. Biochimie. 2009. PMID: 19501626 Review.
Menkes syndrome is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene, encoding a copper-transporting P1B-type ATPase. To date, a total of approximately 160 different mutations have been reported w …
Menkes syndrome is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A …
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
Chiong MA, Canson DM, Abacan MA, Baluyot MM, Cordero CP, Silao CL. Chiong MA, et al. Orphanet J Rare Dis. 2017 Jan 11;12(1):7. doi: 10.1186/s13023-016-0558-0. Orphanet J Rare Dis. 2017. PMID: 28077157 Free PMC article.
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. ...The early clinical characteristics were developmental delay, joint stiffness, coarse facies, recurrent respirat …
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease …
Genetic basis of Rett syndrome.
Van den Veyver IB, Zoghbi HY. Van den Veyver IB, et al. Ment Retard Dev Disabil Res Rev. 2002;8(2):82-6. doi: 10.1002/mrdd.10025. Ment Retard Dev Disabil Res Rev. 2002. PMID: 12112732 Review.
The origin of Rett syndrome has long been debated, but several observations have suggested an X-linked dominant inheritance pattern. ...There is no clear correlation between the type and position of the mutation and the phenotypic features of cl …
The origin of Rett syndrome has long been debated, but several observations have suggested an X-linked dominant …
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.
Sahajpal N, Ziats C, Chaubey A, DuPont BR, Abidi F, Schwartz CE, Stevenson RE. Sahajpal N, et al. Clin Genet. 2024 Feb;105(2):173-184. doi: 10.1111/cge.14445. Epub 2023 Oct 29. Clin Genet. 2024. PMID: 37899624
Duplication of all genes associated with X-linked intellectual disability (XLID) have been reported but the majority of the duplications include more than one XLID gene. ...Duplication of PLP1, the gene associated with Pelizaeus-Merzbacher sy …
Duplication of all genes associated with X-linked intellectual disability (XLID) have been reported but t …
Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report.
Xu X, Lu F, Zhang L, Li H, Du S, Tang J. Xu X, et al. BMC Pediatr. 2021 Sep 3;21(1):384. doi: 10.1186/s12887-021-02860-4. BMC Pediatr. 2021. PMID: 34479510 Free PMC article.
BACKGROUND: The Raynaud-Claes type of X-linked syndromic mental retardation (MRXSRC) is a very rare condition, by intellectual disability ranged from borderline to profound, impaired language development, brain abnormalities, facial dysmo …
BACKGROUND: The Raynaud-Claes type of X-linked syndromic mental retardation (MRXSRC) is a very rare condition, b …
147 results