X-linked intellectual disability (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "X-linked intellectual disability" in English language version.

refsWebsite

Global rank English rank

38nih.gov

4^th place

25doi.org

2^nd place

3semanticscholar.org

11^th place

8^th place

3harvard.edu

18^th place

17^th place

1ibis-birthdefects.org

low place

1omim.org

4,380^th place

4,305^th place

1elsevier.com

610^th place

704^th place

1acs.org

1,248^th place

1,104^th place

1worldcat.org

5^th place

acs.org

pubs.acs.org

Cheng, Steven S.; Mody, Alison C.; Woo, Christina M. (2024-11-07). "Opportunities for Therapeutic Modulation of O-GlcNAc". Chemical Reviews. doi:10.1021/acs.chemrev.4c00417. ISSN 0009-2665.

doi.org

Ropers HH, Hamel BC (January 2005). "X-linked mental retardation". Nature Reviews. Genetics. 6 (1): 46–57. doi:10.1038/nrg1501. PMID 15630421. S2CID 427210.
Lugtenberg D, Veltman JA, van Bokhoven H (September 2007). "High-resolution genomic microarrays for X-linked mental retardation". Genetics in Medicine. 9 (9): 560–565. doi:10.1097/GIM.0b013e318149e647. PMID 17873643.
Stevenson RE, Schwartz CE (2009). "X-linked intellectual disability: unique vulnerability of the male genome". Developmental Disabilities Research Reviews. 15 (4): 361–368. doi:10.1002/ddrr.81. PMID 20014364.
Stevenson RE, Schwartz CE (2009). "X-linked intellectual disability: unique vulnerability of the male genome". Developmental Disabilities Research Reviews. 15 (4): 361–368. doi:10.1002/ddrr.81. PMID 20014364.
Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, et al. (June 2010). "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability". Nature Genetics. 42 (6): 486–488. doi:10.1038/ng.588. PMC 3632837. PMID 20473311.
Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE (June 2002). "A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58". Journal of Medical Genetics. 39 (6): 430–433. doi:10.1136/jmg.39.6.430. PMC 1735161. PMID 12070254.
Tarpey PS, Stevens C, Teague J, Edkins S, O'Meara S, Avis T, et al. (December 2006). "Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation". American Journal of Human Genetics. 79 (6): 1119–1124. doi:10.1086/510137. PMC 1698718. PMID 17186471.
Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, et al. (February 1998). "FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation". Genomics. 47 (3): 350–358. doi:10.1006/geno.1997.5104. PMID 9480748.
Franzè A, Archidiacono N, Rocchi M, Marino M, Grimaldi G (April 1991). "Isolation and expression analysis of a human zinc finger gene (ZNF41) located on the short arm of the X chromosome". Genomics. 9 (4): 728–736. doi:10.1016/0888-7543(91)90367-N. PMID 2037297.
Stathakis DG, Lee D, Bryant PJ (April 1998). "DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1". Genomics. 49 (2): 310–313. doi:10.1006/geno.1998.5243. PMID 9598320.
Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, et al. (September 2004). "A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)". Journal of Medical Genetics. 41 (9): 679–683. doi:10.1136/jmg.2004.019000. PMC 1735884. PMID 15342698.
Guy MP, Phizicky EM (January 2015). "Conservation of an intricate circuit for crucial modifications of the tRNAPhe anticodon loop in eukaryotes". RNA. 21 (1): 61–74. doi:10.1261/rna.047639.114. PMC 4274638. PMID 25404562.
Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY (May 2008). "MeCP2, a key contributor to neurological disease, activates and represses transcription". Science. 320 (5880): 1224–1229. Bibcode:2008Sci...320.1224C. doi:10.1126/science.1153252. PMC 2443785. PMID 18511691.
Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, et al. (April 2002). "ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation". Human Molecular Genetics. 11 (8): 981–991. doi:10.1093/hmg/11.8.981. PMID 11971879.
Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, et al. (February 2005). "Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation". American Journal of Human Genetics. 76 (2): 227–236. doi:10.1086/427563. PMC 1196368. PMID 15586325.
Loenarz C, Schofield CJ (March 2008). "Expanding chemical biology of 2-oxoglutarate oxygenases". Nature Chemical Biology. 4 (3): 152–156. doi:10.1038/nchembio0308-152. PMID 18277970.
Loenarz C, Ge W, Coleman ML, Rose NR, Cooper CD, Klose RJ, et al. (January 2010). "PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase". Human Molecular Genetics. 19 (2): 217–222. doi:10.1093/hmg/ddp480. PMC 4673897. PMID 19843542.
Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B (August 2011). "Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion". American Journal of Medical Genetics. Part A. 155A (8): 2003–2007. doi:10.1002/ajmg.a.34122. PMID 21739600. S2CID 9568277.
Melko M, Douguet D, Bensaid M, Zongaro S, Verheggen C, Gecz J, Bardoni B (May 2011). "Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability". Human Molecular Genetics. 20 (10): 1873–1885. doi:10.1093/hmg/ddr069. PMID 21330300.
Cecil KM, Salomons GS, Ball WS, Wong B, Chuck G, Verhoeven NM, et al. (March 2001). "Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?". Annals of Neurology. 49 (3): 401–404. doi:10.1002/ana.79. PMID 11261517. S2CID 38756630.
Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, et al. (2017). "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability". PLOS ONE. 12 (4): e0175962. Bibcode:2017PLoSO..1275962G. doi:10.1371/journal.pone.0175962. PMC 5393878. PMID 28414775.
Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, et al. (2017). "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability". PLOS ONE. 12 (4): e0175962. Bibcode:2017PLoSO..1275962G. doi:10.1371/journal.pone.0175962. PMC 5393878. PMID 28414775.
Czeschik JC, Bauer P, Buiting K, Dufke C, Guillén-Navarro E, Johnson DS, et al. (September 2013). "X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity". Orphanet Journal of Rare Diseases. 8: 146. doi:10.1186/1750-1172-8-146. PMC 4015352. PMID 24053514.
Mayfield, Johnathan M.; Hitefield, Naomi L.; Czajewski, Ignacy; Vanhye, Lotte; Holden, Laura; Morava, Eva; van Aalten, Daan M.F.; Wells, Lance (September 2024). "O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome". Journal of Biological Chemistry. 300 (9): 107599. doi:10.1016/j.jbc.2024.107599. PMC 11381892. PMID 39059494.
Cheng, Steven S.; Mody, Alison C.; Woo, Christina M. (2024-11-07). "Opportunities for Therapeutic Modulation of O-GlcNAc". Chemical Reviews. doi:10.1021/acs.chemrev.4c00417. ISSN 0009-2665.

elsevier.com

linkinghub.elsevier.com

Mayfield, Johnathan M.; Hitefield, Naomi L.; Czajewski, Ignacy; Vanhye, Lotte; Holden, Laura; Morava, Eva; van Aalten, Daan M.F.; Wells, Lance (September 2024). "O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome". Journal of Biological Chemistry. 300 (9): 107599. doi:10.1016/j.jbc.2024.107599. PMC 11381892. PMID 39059494.

harvard.edu

ui.adsabs.harvard.edu

Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY (May 2008). "MeCP2, a key contributor to neurological disease, activates and represses transcription". Science. 320 (5880): 1224–1229. Bibcode:2008Sci...320.1224C. doi:10.1126/science.1153252. PMC 2443785. PMID 18511691.
Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, et al. (2017). "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability". PLOS ONE. 12 (4): e0175962. Bibcode:2017PLoSO..1275962G. doi:10.1371/journal.pone.0175962. PMC 5393878. PMID 28414775.
Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, et al. (2017). "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability". PLOS ONE. 12 (4): e0175962. Bibcode:2017PLoSO..1275962G. doi:10.1371/journal.pone.0175962. PMC 5393878. PMID 28414775.

ibis-birthdefects.org

"Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism". International Birth Defect Information Systems. Retrieved 2010-12-10.

nih.gov

pubmed.ncbi.nlm.nih.gov

Ropers HH, Hamel BC (January 2005). "X-linked mental retardation". Nature Reviews. Genetics. 6 (1): 46–57. doi:10.1038/nrg1501. PMID 15630421. S2CID 427210.
Lugtenberg D, Veltman JA, van Bokhoven H (September 2007). "High-resolution genomic microarrays for X-linked mental retardation". Genetics in Medicine. 9 (9): 560–565. doi:10.1097/GIM.0b013e318149e647. PMID 17873643.
Stevenson RE, Schwartz CE (2009). "X-linked intellectual disability: unique vulnerability of the male genome". Developmental Disabilities Research Reviews. 15 (4): 361–368. doi:10.1002/ddrr.81. PMID 20014364.
Stevenson RE, Schwartz CE (2009). "X-linked intellectual disability: unique vulnerability of the male genome". Developmental Disabilities Research Reviews. 15 (4): 361–368. doi:10.1002/ddrr.81. PMID 20014364.
Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, et al. (June 2010). "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability". Nature Genetics. 42 (6): 486–488. doi:10.1038/ng.588. PMC 3632837. PMID 20473311.
Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE (June 2002). "A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58". Journal of Medical Genetics. 39 (6): 430–433. doi:10.1136/jmg.39.6.430. PMC 1735161. PMID 12070254.
Tarpey PS, Stevens C, Teague J, Edkins S, O'Meara S, Avis T, et al. (December 2006). "Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation". American Journal of Human Genetics. 79 (6): 1119–1124. doi:10.1086/510137. PMC 1698718. PMID 17186471.
Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, et al. (February 1998). "FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation". Genomics. 47 (3): 350–358. doi:10.1006/geno.1997.5104. PMID 9480748.
Franzè A, Archidiacono N, Rocchi M, Marino M, Grimaldi G (April 1991). "Isolation and expression analysis of a human zinc finger gene (ZNF41) located on the short arm of the X chromosome". Genomics. 9 (4): 728–736. doi:10.1016/0888-7543(91)90367-N. PMID 2037297.
Stathakis DG, Lee D, Bryant PJ (April 1998). "DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1". Genomics. 49 (2): 310–313. doi:10.1006/geno.1998.5243. PMID 9598320.
Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, et al. (September 2004). "A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)". Journal of Medical Genetics. 41 (9): 679–683. doi:10.1136/jmg.2004.019000. PMC 1735884. PMID 15342698.
Guy MP, Phizicky EM (January 2015). "Conservation of an intricate circuit for crucial modifications of the tRNAPhe anticodon loop in eukaryotes". RNA. 21 (1): 61–74. doi:10.1261/rna.047639.114. PMC 4274638. PMID 25404562.
Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY (May 2008). "MeCP2, a key contributor to neurological disease, activates and represses transcription". Science. 320 (5880): 1224–1229. Bibcode:2008Sci...320.1224C. doi:10.1126/science.1153252. PMC 2443785. PMID 18511691.
Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, et al. (April 2002). "ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation". Human Molecular Genetics. 11 (8): 981–991. doi:10.1093/hmg/11.8.981. PMID 11971879.
Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, et al. (February 2005). "Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation". American Journal of Human Genetics. 76 (2): 227–236. doi:10.1086/427563. PMC 1196368. PMID 15586325.
Loenarz C, Schofield CJ (March 2008). "Expanding chemical biology of 2-oxoglutarate oxygenases". Nature Chemical Biology. 4 (3): 152–156. doi:10.1038/nchembio0308-152. PMID 18277970.
Loenarz C, Ge W, Coleman ML, Rose NR, Cooper CD, Klose RJ, et al. (January 2010). "PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase". Human Molecular Genetics. 19 (2): 217–222. doi:10.1093/hmg/ddp480. PMC 4673897. PMID 19843542.
Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B (August 2011). "Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion". American Journal of Medical Genetics. Part A. 155A (8): 2003–2007. doi:10.1002/ajmg.a.34122. PMID 21739600. S2CID 9568277.
Melko M, Douguet D, Bensaid M, Zongaro S, Verheggen C, Gecz J, Bardoni B (May 2011). "Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability". Human Molecular Genetics. 20 (10): 1873–1885. doi:10.1093/hmg/ddr069. PMID 21330300.
Cecil KM, Salomons GS, Ball WS, Wong B, Chuck G, Verhoeven NM, et al. (March 2001). "Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?". Annals of Neurology. 49 (3): 401–404. doi:10.1002/ana.79. PMID 11261517. S2CID 38756630.
Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, et al. (2017). "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability". PLOS ONE. 12 (4): e0175962. Bibcode:2017PLoSO..1275962G. doi:10.1371/journal.pone.0175962. PMC 5393878. PMID 28414775.
Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, et al. (2017). "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability". PLOS ONE. 12 (4): e0175962. Bibcode:2017PLoSO..1275962G. doi:10.1371/journal.pone.0175962. PMC 5393878. PMID 28414775.
Czeschik JC, Bauer P, Buiting K, Dufke C, Guillén-Navarro E, Johnson DS, et al. (September 2013). "X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity". Orphanet Journal of Rare Diseases. 8: 146. doi:10.1186/1750-1172-8-146. PMC 4015352. PMID 24053514.
Mayfield, Johnathan M.; Hitefield, Naomi L.; Czajewski, Ignacy; Vanhye, Lotte; Holden, Laura; Morava, Eva; van Aalten, Daan M.F.; Wells, Lance (September 2024). "O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome". Journal of Biological Chemistry. 300 (9): 107599. doi:10.1016/j.jbc.2024.107599. PMC 11381892. PMID 39059494.

ncbi.nlm.nih.gov

Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, et al. (June 2010). "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability". Nature Genetics. 42 (6): 486–488. doi:10.1038/ng.588. PMC 3632837. PMID 20473311.
Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE (June 2002). "A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58". Journal of Medical Genetics. 39 (6): 430–433. doi:10.1136/jmg.39.6.430. PMC 1735161. PMID 12070254.
Tarpey PS, Stevens C, Teague J, Edkins S, O'Meara S, Avis T, et al. (December 2006). "Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation". American Journal of Human Genetics. 79 (6): 1119–1124. doi:10.1086/510137. PMC 1698718. PMID 17186471.
"AP1S2 adaptor-related protein complex 1, sigma 2 subunit". Entrez Gene. National Center for Biotechnology Information, U.S. National Library of Medicine.
Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, et al. (September 2004). "A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)". Journal of Medical Genetics. 41 (9): 679–683. doi:10.1136/jmg.2004.019000. PMC 1735884. PMID 15342698.
Guy MP, Phizicky EM (January 2015). "Conservation of an intricate circuit for crucial modifications of the tRNAPhe anticodon loop in eukaryotes". RNA. 21 (1): 61–74. doi:10.1261/rna.047639.114. PMC 4274638. PMID 25404562.
Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY (May 2008). "MeCP2, a key contributor to neurological disease, activates and represses transcription". Science. 320 (5880): 1224–1229. Bibcode:2008Sci...320.1224C. doi:10.1126/science.1153252. PMC 2443785. PMID 18511691.
Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, et al. (February 2005). "Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation". American Journal of Human Genetics. 76 (2): 227–236. doi:10.1086/427563. PMC 1196368. PMID 15586325.
Loenarz C, Ge W, Coleman ML, Rose NR, Cooper CD, Klose RJ, et al. (January 2010). "PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase". Human Molecular Genetics. 19 (2): 217–222. doi:10.1093/hmg/ddp480. PMC 4673897. PMID 19843542.
Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, et al. (2017). "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability". PLOS ONE. 12 (4): e0175962. Bibcode:2017PLoSO..1275962G. doi:10.1371/journal.pone.0175962. PMC 5393878. PMID 28414775.
Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, et al. (2017). "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability". PLOS ONE. 12 (4): e0175962. Bibcode:2017PLoSO..1275962G. doi:10.1371/journal.pone.0175962. PMC 5393878. PMID 28414775.
Czeschik JC, Bauer P, Buiting K, Dufke C, Guillén-Navarro E, Johnson DS, et al. (September 2013). "X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity". Orphanet Journal of Rare Diseases. 8: 146. doi:10.1186/1750-1172-8-146. PMC 4015352. PMID 24053514.
Mayfield, Johnathan M.; Hitefield, Naomi L.; Czajewski, Ignacy; Vanhye, Lotte; Holden, Laura; Morava, Eva; van Aalten, Daan M.F.; Wells, Lance (September 2024). "O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome". Journal of Biological Chemistry. 300 (9): 107599. doi:10.1016/j.jbc.2024.107599. PMC 11381892. PMID 39059494.

rarediseases.info.nih.gov

"Microduplication Xp11.22-p11.23 syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-03-09.

omim.org

"OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2018-03-09.

semanticscholar.org

api.semanticscholar.org

Ropers HH, Hamel BC (January 2005). "X-linked mental retardation". Nature Reviews. Genetics. 6 (1): 46–57. doi:10.1038/nrg1501. PMID 15630421. S2CID 427210.
Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B (August 2011). "Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion". American Journal of Medical Genetics. Part A. 155A (8): 2003–2007. doi:10.1002/ajmg.a.34122. PMID 21739600. S2CID 9568277.
Cecil KM, Salomons GS, Ball WS, Wong B, Chuck G, Verhoeven NM, et al. (March 2001). "Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?". Annals of Neurology. 49 (3): 401–404. doi:10.1002/ana.79. PMID 11261517. S2CID 38756630.

worldcat.org

search.worldcat.org

Cheng, Steven S.; Mody, Alison C.; Woo, Christina M. (2024-11-07). "Opportunities for Therapeutic Modulation of O-GlcNAc". Chemical Reviews. doi:10.1021/acs.chemrev.4c00417. ISSN 0009-2665.