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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC. LaDuca H, et al. PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017. PLoS One. 2017. PMID: 28152038 Free PMC article.
METHODS: Corresponding nucleotide positions for 1533 different alterations classified as pathogenic or likely pathogenic identified on targeted NGS multi-gene panel tests in our laboratory were interrogated in data from 100 randomly-selected clinical WES samples to …
METHODS: Corresponding nucleotide positions for 1533 different alterations classified as pathogenic or likely pathogenic identified on targe …
Multifaceted Approach for Quantification and Enzymatic Activity of Iduronate-2-Sulfatase to Support Developing Gene Therapy for Hunter Syndrome.
Franchi PM, Kulagina N, Ilinskaya A, Hoffpauir B, Qian MG, Sugimoto H. Franchi PM, et al. AAPS J. 2023 Jun 20;25(4):61. doi: 10.1208/s12248-023-00821-6. AAPS J. 2023. PMID: 37340133
Mucopolysaccharidosis type II, commonly called Hunter syndrome, is a rare X-linked recessive disease caused by the deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S). ...The highest I2S transgene protein was observed in the liver among tissue measured, …
Mucopolysaccharidosis type II, commonly called Hunter syndrome, is a rare X-linked recessive disease caused by the deficiency …
Non-random maternal X-chromosome inactivation associated with PHACES.
Levin JH, Kaler SG. Levin JH, et al. Clin Genet. 2007 Oct;72(4):345-50. doi: 10.1111/j.1399-0004.2007.00851.x. Clin Genet. 2007. PMID: 17850631
We hypothesized that the gender bias in PHACES results from mutation in an X-linked dominant gene often lethal in males, and performed X-inactivation analysis of the polymorphic androgen receptor locus in this family. ...These findings are consistent with favorably …
We hypothesized that the gender bias in PHACES results from mutation in an X-linked dominant gene often lethal in males, and p …
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report.
Muenzer J, Lamsa JC, Garcia A, Dacosta J, Garcia J, Treco DA. Muenzer J, et al. Acta Paediatr Suppl. 2002;91(439):98-9. doi: 10.1111/j.1651-2227.2002.tb03115.x. Acta Paediatr Suppl. 2002. PMID: 12572850 Review.
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked disease caused by a deficiency of the enzyme iduronate-2-sulphatase (IDS), which results in the lysosomal accumulation of glycosaminoglycans (GAG). ...Therapy with IDS results in a marked decreas …
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked disease caused by a deficiency of the enzyme iduronate- …
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). ...Of these 45 patients, five did n …
BACKGROUND: Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor …
Non-viral transfer approaches for the gene therapy of mucopolysaccharidosis type II (Hunter syndrome).
Tomanin R, Friso A, Alba S, Piller Puicher E, Mennuni C, La Monica N, Hortelano G, Zacchello F, Scarpa M. Tomanin R, et al. Acta Paediatr Suppl. 2002;91(439):100-4. doi: 10.1111/j.1651-2227.2002.tb03119.x. Acta Paediatr Suppl. 2002. PMID: 12572851
AIMS: Hunter syndrome is a rare X-linked lysosomal storage disorder caused by the deficiency of the housekeeping enzyme iduronate-2-sulphatase (IDS). ...Fibroblast IDS activity was also increased after co-culture with encapsulated cells. EGT was able to transduce …
AIMS: Hunter syndrome is a rare X-linked lysosomal storage disorder caused by the deficiency of the housekeeping enzyme iduron …
Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II.
Garcia AR, DaCosta JM, Pan J, Muenzer J, Lamsa JC. Garcia AR, et al. Mol Genet Metab. 2007 Jun;91(2):183-90. doi: 10.1016/j.ymgme.2007.03.003. Epub 2007 Apr 24. Mol Genet Metab. 2007. PMID: 17459751
Mucopolysaccharidosis II (MPS II; Hunter syndrome) is an X-linked metabolic disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S), which catalyzes the catabolism of glycosaminoglycans (GAG) by cleaving the O-linked sulfate from dermatan …
Mucopolysaccharidosis II (MPS II; Hunter syndrome) is an X-linked metabolic disorder caused by a deficiency of the lysosomal e …
Safety of intracerebroventricular copper histidine in adult rats.
Lem KE, Brinster LR, Tjurmina O, Lizak M, Lal S, Centeno JA, Liu PC, Godwin SC, Kaler SG. Lem KE, et al. Mol Genet Metab. 2007 May;91(1):30-6. doi: 10.1016/j.ymgme.2007.01.010. Epub 2007 Mar 1. Mol Genet Metab. 2007. PMID: 17336116 Free PMC article.
Classical Menkes disease is an X-linked recessive neurodegenerative disorder caused by mutations in a P-type ATPase (ATP7A) that normally delivers copper to the developing central nervous system. Infants with large deletions, or other mutations in ATP7A that incapac …
Classical Menkes disease is an X-linked recessive neurodegenerative disorder caused by mutations in a P-type ATPase (ATP7A) th …
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L. El Chehadeh S, et al. Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27761913
One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mildly (XCI: 70/30, 63/37, 100/0 in blood and random in saliva), one moderately (XCI: random) and three severely (XCI: uninformati …
One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mild …