Mental retardation and microcephaly with pontine and cerebellar hypoplasia (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Mental retardation and microcephaly with pontine and cerebellar hypoplasia" in English language version.

refsWebsite

Global rank English rank

34nih.gov

4^th place

18doi.org

2^nd place

17worldcat.org

5^th place

5semanticscholar.org

11^th place

8^th place

1omim.org

4,380^th place

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1wiley.com

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doi.org

Burglen, L.; Chantot-Bastaraud, S.; Garel, C.; Milh, M.; Touraine, R.; Zanni, G.; Petit, F.; Afenjar, A.; Goizet, C.; Barresi, S.; Coussement, A. L.; Ioos, C.; Lazaro, L.; Joriot, S.; Desguerre, I.; Lacombe, D.; Des Portes, V.; Bertini, E.; Siffroi, J. P.; Billette De Villemeur, T.; Rodriguez, D. (2012). "Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient". Orphanet Journal of Rare Diseases. 7 (18): 18. doi:10.1186/1750-1172-7-18. PMC 3351739. PMID 22452838.
Mukherjee K, Slawson JB, Christmann BL, Griffith LC (2014). "Neuron-specific protein interactions of Drosophila CASK-β are revealed by mass spectrometry". Front Mol Neurosci. 7: 58. doi:10.3389/fnmol.2014.00058. PMC 4075472. PMID 25071438.
Burglen, Lydie; Chantot-Bastaraud, Sandra; Garel, Catherine; Milh, Mathieu; Touraine, Renaud; Zanni, Ginevra; Petit, Florence; Afenjar, Alexandra; Goizet, Cyril; Barresi, Sabina; Coussement, Aurélie; Ioos, Christine; Lazaro, Leila; Joriot, Sylvie; Desguerre, Isabelle (2012-03-27). "Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient". Orphanet Journal of Rare Diseases. 7: 18. doi:10.1186/1750-1172-7-18. ISSN 1750-1172. PMC 3351739. PMID 22452838.
Moog, Ute; Bierhals, Tatjana; Brand, Kristina; Bautsch, Jan; Biskup, Saskia; Brune, Thomas; Denecke, Jonas; de Die-Smulders, Christine E; Evers, Christina; Hempel, Maja; Henneke, Marco; Yntema, Helger; Menten, Björn; Pietz, Joachim; Pfundt, Rolph (2015-04-12). "Phenotypic and molecular insights into CASK-related disorders in males". Orphanet Journal of Rare Diseases. 10: 44. doi:10.1186/s13023-015-0256-3. ISSN 1750-1172. PMC 4449965. PMID 25886057.
Mukherjee, Konark; Patel, Paras A.; Rajan, Deepa S.; LaConte, Leslie E. W.; Srivastava, Sarika (2020-07-21). "Survival of a male patient harboring CASK Arg27Ter mutation to adolescence". Molecular Genetics & Genomic Medicine. 8 (10): e1426. doi:10.1002/mgg3.1426. ISSN 2324-9269. PMC 7549553. PMID 32696595.
Nakajiri, Tomoshi; Kobayashi, Katsuhiro; Okamoto, Nobuhiko; Oka, Makio; Miya, Fuyuki; Kosaki, Kenjiro; Yoshinaga, Harumi (October 2015). "Late-onset epileptic spasms in a female patient with a CASK mutation". Brain & Development. 37 (9): 919–923. doi:10.1016/j.braindev.2015.02.007. ISSN 1872-7131. PMID 25765806. S2CID 35591581.
Hata, Y; Butz, S; Sudhof, TC (1996-04-15). "CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins". The Journal of Neuroscience. 16 (8): 2488–2494. doi:10.1523/JNEUROSCI.16-08-02488.1996. ISSN 0270-6474. PMC 6578772. PMID 8786425.
Cohen, Alexandra R.; Wood, Daniel F.; Marfatia, Shirin M.; Walther, Zenta; Chishti, Athar H.; Anderson, James Melvin (1998-07-13). "Human CASK/LIN-2 Binds Syndecan-2 and Protein 4.1 and Localizes to the Basolateral Membrane of Epithelial Cells". The Journal of Cell Biology. 142 (1): 129–138. doi:10.1083/jcb.142.1.129. ISSN 0021-9525. PMC 2133028. PMID 9660868.
Butz, S.; Okamoto, M.; Südhof, T. C. (1998-09-18). "A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain". Cell. 94 (6): 773–782. doi:10.1016/s0092-8674(00)81736-5. ISSN 0092-8674. PMID 9753324. S2CID 12465062.
Qi, Jie; Su, Yongyue; Sun, Rongju; Zhang, Fang; Luo, Xiaofeng; Yang, Zongcheng; Luo, Xiangdong (2005-03-11). "CASK inhibits ECV304 cell growth and interacts with Id1". Biochemical and Biophysical Research Communications. 328 (2): 517–521. doi:10.1016/j.bbrc.2005.01.014. ISSN 0006-291X. PMID 15694377.
Mori, Takuma; Kasem, Enas A.; Suzuki-Kouyama, Emi; Cao, Xueshan; Li, Xue; Kurihara, Taiga; Uemura, Takeshi; Yanagawa, Toru; Tabuchi, Katsuhiko (2019). "Deficiency of calcium/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by down-regulating GluN2B". Molecular Psychiatry. 24 (7): 1079–1092. doi:10.1038/s41380-018-0338-4. ISSN 1359-4184. PMC 6756202. PMID 30610199.
Dubbs, Holly; Ortiz-Gonzalez, Xilma; Marsh, Eric D. (September 2022). "Pathogenic variants in CASK : Expanding the genotype–phenotype correlations". American Journal of Medical Genetics Part A. 188 (9): 2617–2626. doi:10.1002/ajmg.a.62863. ISSN 1552-4825. PMID 35670295. S2CID 249433609.
DeLuca, Stephanie C.; Wallace, Dory A.; Trucks, Mary Rebekah; Mukherjee, Konark (2017-12-19). "A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation". BMC Research Notes. 10 (1): 743. doi:10.1186/s13104-017-3065-z. ISSN 1756-0500. PMC 5735954. PMID 29258560.
Hata, Y; Butz, S; Sudhof, TC (1996-04-15). "CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins". The Journal of Neuroscience. 16 (8): 2488–2494. doi:10.1523/JNEUROSCI.16-08-02488.1996. ISSN 0270-6474. PMC 6578772. PMID 8786425.
Dimitratos, S. D.; Stathakis, D. G.; Nelson, C. A.; Woods, D. F.; Bryant, P. J. (1998-07-15). "The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy". Genomics. 51 (2): 308–309. doi:10.1006/geno.1998.5404. ISSN 0888-7543. PMID 9722958.
Froyen, Guy; Van Esch, Hilde; Bauters, Marijke; Hollanders, Karen; Frints, Suzanna G. M.; Vermeesch, Joris R.; Devriendt, Koen; Fryns, Jean-Pierre; Marynen, Peter (October 2007). "Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes". Human Mutation. 28 (10): 1034–1042. doi:10.1002/humu.20564. ISSN 1098-1004. PMID 17546640. S2CID 25495518.
Hayashi, Shin; Mizuno, Seiji; Migita, Ohsuke; Okuyama, Torayuki; Makita, Yoshio; Hata, Akira; Imoto, Issei; Inazawa, Johji (2008-08-15). "The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation". American Journal of Medical Genetics. Part A. 146A (16): 2145–2151. doi:10.1002/ajmg.a.32433. ISSN 1552-4833. PMID 18629876. S2CID 33739467.
Najm, Juliane; Horn, Denise; Wimplinger, Isabella; Golden, Jeffrey A.; Chizhikov, Victor V.; Sudi, Jyotsna; Christian, Susan L.; Ullmann, Reinhard; Kuechler, Alma; Haas, Carola A.; Flubacher, Armin; Charnas, Lawrence R.; Uyanik, Gökhan; Frank, Ulrich; Klopocki, Eva (September 2008). "Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum". Nature Genetics. 40 (9): 1065–1067. doi:10.1038/ng.194. ISSN 1061-4036. PMID 19165920.

nih.gov

pubmed.ncbi.nlm.nih.gov

Burglen, L.; Chantot-Bastaraud, S.; Garel, C.; Milh, M.; Touraine, R.; Zanni, G.; Petit, F.; Afenjar, A.; Goizet, C.; Barresi, S.; Coussement, A. L.; Ioos, C.; Lazaro, L.; Joriot, S.; Desguerre, I.; Lacombe, D.; Des Portes, V.; Bertini, E.; Siffroi, J. P.; Billette De Villemeur, T.; Rodriguez, D. (2012). "Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient". Orphanet Journal of Rare Diseases. 7 (18): 18. doi:10.1186/1750-1172-7-18. PMC 3351739. PMID 22452838.
Mukherjee K, Slawson JB, Christmann BL, Griffith LC (2014). "Neuron-specific protein interactions of Drosophila CASK-β are revealed by mass spectrometry". Front Mol Neurosci. 7: 58. doi:10.3389/fnmol.2014.00058. PMC 4075472. PMID 25071438.
Moog, Ute; Kutsche, Kerstin (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "CASK Disorders", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 24278995, retrieved 2022-11-07
Burglen, Lydie; Chantot-Bastaraud, Sandra; Garel, Catherine; Milh, Mathieu; Touraine, Renaud; Zanni, Ginevra; Petit, Florence; Afenjar, Alexandra; Goizet, Cyril; Barresi, Sabina; Coussement, Aurélie; Ioos, Christine; Lazaro, Leila; Joriot, Sylvie; Desguerre, Isabelle (2012-03-27). "Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient". Orphanet Journal of Rare Diseases. 7: 18. doi:10.1186/1750-1172-7-18. ISSN 1750-1172. PMC 3351739. PMID 22452838.
Moog, Ute; Bierhals, Tatjana; Brand, Kristina; Bautsch, Jan; Biskup, Saskia; Brune, Thomas; Denecke, Jonas; de Die-Smulders, Christine E; Evers, Christina; Hempel, Maja; Henneke, Marco; Yntema, Helger; Menten, Björn; Pietz, Joachim; Pfundt, Rolph (2015-04-12). "Phenotypic and molecular insights into CASK-related disorders in males". Orphanet Journal of Rare Diseases. 10: 44. doi:10.1186/s13023-015-0256-3. ISSN 1750-1172. PMC 4449965. PMID 25886057.
Mukherjee, Konark; Patel, Paras A.; Rajan, Deepa S.; LaConte, Leslie E. W.; Srivastava, Sarika (2020-07-21). "Survival of a male patient harboring CASK Arg27Ter mutation to adolescence". Molecular Genetics & Genomic Medicine. 8 (10): e1426. doi:10.1002/mgg3.1426. ISSN 2324-9269. PMC 7549553. PMID 32696595.
Nakajiri, Tomoshi; Kobayashi, Katsuhiro; Okamoto, Nobuhiko; Oka, Makio; Miya, Fuyuki; Kosaki, Kenjiro; Yoshinaga, Harumi (October 2015). "Late-onset epileptic spasms in a female patient with a CASK mutation". Brain & Development. 37 (9): 919–923. doi:10.1016/j.braindev.2015.02.007. ISSN 1872-7131. PMID 25765806. S2CID 35591581.
Hata, Y; Butz, S; Sudhof, TC (1996-04-15). "CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins". The Journal of Neuroscience. 16 (8): 2488–2494. doi:10.1523/JNEUROSCI.16-08-02488.1996. ISSN 0270-6474. PMC 6578772. PMID 8786425.
Cohen, Alexandra R.; Wood, Daniel F.; Marfatia, Shirin M.; Walther, Zenta; Chishti, Athar H.; Anderson, James Melvin (1998-07-13). "Human CASK/LIN-2 Binds Syndecan-2 and Protein 4.1 and Localizes to the Basolateral Membrane of Epithelial Cells". The Journal of Cell Biology. 142 (1): 129–138. doi:10.1083/jcb.142.1.129. ISSN 0021-9525. PMC 2133028. PMID 9660868.
Butz, S.; Okamoto, M.; Südhof, T. C. (1998-09-18). "A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain". Cell. 94 (6): 773–782. doi:10.1016/s0092-8674(00)81736-5. ISSN 0092-8674. PMID 9753324. S2CID 12465062.
Caruana, Georgina (2002). "Genetic studies define MAGUK proteins as regulators of epithelial cell polarity". The International Journal of Developmental Biology. 46 (4): 511–518. ISSN 0214-6282. PMID 12141438.
Qi, Jie; Su, Yongyue; Sun, Rongju; Zhang, Fang; Luo, Xiaofeng; Yang, Zongcheng; Luo, Xiangdong (2005-03-11). "CASK inhibits ECV304 cell growth and interacts with Id1". Biochemical and Biophysical Research Communications. 328 (2): 517–521. doi:10.1016/j.bbrc.2005.01.014. ISSN 0006-291X. PMID 15694377.
Mori, Takuma; Kasem, Enas A.; Suzuki-Kouyama, Emi; Cao, Xueshan; Li, Xue; Kurihara, Taiga; Uemura, Takeshi; Yanagawa, Toru; Tabuchi, Katsuhiko (2019). "Deficiency of calcium/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by down-regulating GluN2B". Molecular Psychiatry. 24 (7): 1079–1092. doi:10.1038/s41380-018-0338-4. ISSN 1359-4184. PMC 6756202. PMID 30610199.
Dubbs, Holly; Ortiz-Gonzalez, Xilma; Marsh, Eric D. (September 2022). "Pathogenic variants in CASK : Expanding the genotype–phenotype correlations". American Journal of Medical Genetics Part A. 188 (9): 2617–2626. doi:10.1002/ajmg.a.62863. ISSN 1552-4825. PMID 35670295. S2CID 249433609.
Moog, Ute; Kutsche, Kerstin (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "CASK Disorders", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 24278995, retrieved 2022-11-07
DeLuca, Stephanie C.; Wallace, Dory A.; Trucks, Mary Rebekah; Mukherjee, Konark (2017-12-19). "A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation". BMC Research Notes. 10 (1): 743. doi:10.1186/s13104-017-3065-z. ISSN 1756-0500. PMC 5735954. PMID 29258560.
Hata, Y; Butz, S; Sudhof, TC (1996-04-15). "CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins". The Journal of Neuroscience. 16 (8): 2488–2494. doi:10.1523/JNEUROSCI.16-08-02488.1996. ISSN 0270-6474. PMC 6578772. PMID 8786425.
Dimitratos, S. D.; Stathakis, D. G.; Nelson, C. A.; Woods, D. F.; Bryant, P. J. (1998-07-15). "The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy". Genomics. 51 (2): 308–309. doi:10.1006/geno.1998.5404. ISSN 0888-7543. PMID 9722958.
Froyen, Guy; Van Esch, Hilde; Bauters, Marijke; Hollanders, Karen; Frints, Suzanna G. M.; Vermeesch, Joris R.; Devriendt, Koen; Fryns, Jean-Pierre; Marynen, Peter (October 2007). "Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes". Human Mutation. 28 (10): 1034–1042. doi:10.1002/humu.20564. ISSN 1098-1004. PMID 17546640. S2CID 25495518.
Hayashi, Shin; Mizuno, Seiji; Migita, Ohsuke; Okuyama, Torayuki; Makita, Yoshio; Hata, Akira; Imoto, Issei; Inazawa, Johji (2008-08-15). "The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation". American Journal of Medical Genetics. Part A. 146A (16): 2145–2151. doi:10.1002/ajmg.a.32433. ISSN 1552-4833. PMID 18629876. S2CID 33739467.
Najm, Juliane; Horn, Denise; Wimplinger, Isabella; Golden, Jeffrey A.; Chizhikov, Victor V.; Sudi, Jyotsna; Christian, Susan L.; Ullmann, Reinhard; Kuechler, Alma; Haas, Carola A.; Flubacher, Armin; Charnas, Lawrence R.; Uyanik, Gökhan; Frank, Ulrich; Klopocki, Eva (September 2008). "Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum". Nature Genetics. 40 (9): 1065–1067. doi:10.1038/ng.194. ISSN 1061-4036. PMID 19165920.

ncbi.nlm.nih.gov

Burglen, L.; Chantot-Bastaraud, S.; Garel, C.; Milh, M.; Touraine, R.; Zanni, G.; Petit, F.; Afenjar, A.; Goizet, C.; Barresi, S.; Coussement, A. L.; Ioos, C.; Lazaro, L.; Joriot, S.; Desguerre, I.; Lacombe, D.; Des Portes, V.; Bertini, E.; Siffroi, J. P.; Billette De Villemeur, T.; Rodriguez, D. (2012). "Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient". Orphanet Journal of Rare Diseases. 7 (18): 18. doi:10.1186/1750-1172-7-18. PMC 3351739. PMID 22452838.
Mukherjee K, Slawson JB, Christmann BL, Griffith LC (2014). "Neuron-specific protein interactions of Drosophila CASK-β are revealed by mass spectrometry". Front Mol Neurosci. 7: 58. doi:10.3389/fnmol.2014.00058. PMC 4075472. PMID 25071438.
Moog, Ute; Kutsche, Kerstin (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "CASK Disorders", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 24278995, retrieved 2022-11-07
Burglen, Lydie; Chantot-Bastaraud, Sandra; Garel, Catherine; Milh, Mathieu; Touraine, Renaud; Zanni, Ginevra; Petit, Florence; Afenjar, Alexandra; Goizet, Cyril; Barresi, Sabina; Coussement, Aurélie; Ioos, Christine; Lazaro, Leila; Joriot, Sylvie; Desguerre, Isabelle (2012-03-27). "Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient". Orphanet Journal of Rare Diseases. 7: 18. doi:10.1186/1750-1172-7-18. ISSN 1750-1172. PMC 3351739. PMID 22452838.
Moog, Ute; Bierhals, Tatjana; Brand, Kristina; Bautsch, Jan; Biskup, Saskia; Brune, Thomas; Denecke, Jonas; de Die-Smulders, Christine E; Evers, Christina; Hempel, Maja; Henneke, Marco; Yntema, Helger; Menten, Björn; Pietz, Joachim; Pfundt, Rolph (2015-04-12). "Phenotypic and molecular insights into CASK-related disorders in males". Orphanet Journal of Rare Diseases. 10: 44. doi:10.1186/s13023-015-0256-3. ISSN 1750-1172. PMC 4449965. PMID 25886057.
Mukherjee, Konark; Patel, Paras A.; Rajan, Deepa S.; LaConte, Leslie E. W.; Srivastava, Sarika (2020-07-21). "Survival of a male patient harboring CASK Arg27Ter mutation to adolescence". Molecular Genetics & Genomic Medicine. 8 (10): e1426. doi:10.1002/mgg3.1426. ISSN 2324-9269. PMC 7549553. PMID 32696595.
Hata, Y; Butz, S; Sudhof, TC (1996-04-15). "CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins". The Journal of Neuroscience. 16 (8): 2488–2494. doi:10.1523/JNEUROSCI.16-08-02488.1996. ISSN 0270-6474. PMC 6578772. PMID 8786425.
Cohen, Alexandra R.; Wood, Daniel F.; Marfatia, Shirin M.; Walther, Zenta; Chishti, Athar H.; Anderson, James Melvin (1998-07-13). "Human CASK/LIN-2 Binds Syndecan-2 and Protein 4.1 and Localizes to the Basolateral Membrane of Epithelial Cells". The Journal of Cell Biology. 142 (1): 129–138. doi:10.1083/jcb.142.1.129. ISSN 0021-9525. PMC 2133028. PMID 9660868.
Mori, Takuma; Kasem, Enas A.; Suzuki-Kouyama, Emi; Cao, Xueshan; Li, Xue; Kurihara, Taiga; Uemura, Takeshi; Yanagawa, Toru; Tabuchi, Katsuhiko (2019). "Deficiency of calcium/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by down-regulating GluN2B". Molecular Psychiatry. 24 (7): 1079–1092. doi:10.1038/s41380-018-0338-4. ISSN 1359-4184. PMC 6756202. PMID 30610199.
Moog, Ute; Kutsche, Kerstin (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "CASK Disorders", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 24278995, retrieved 2022-11-07
DeLuca, Stephanie C.; Wallace, Dory A.; Trucks, Mary Rebekah; Mukherjee, Konark (2017-12-19). "A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation". BMC Research Notes. 10 (1): 743. doi:10.1186/s13104-017-3065-z. ISSN 1756-0500. PMC 5735954. PMID 29258560.
Hata, Y; Butz, S; Sudhof, TC (1996-04-15). "CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins". The Journal of Neuroscience. 16 (8): 2488–2494. doi:10.1523/JNEUROSCI.16-08-02488.1996. ISSN 0270-6474. PMC 6578772. PMID 8786425.

rarediseases.info.nih.gov

"X-linked intellectual disability, Najm type | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 18 July 2019.

omim.org

Online Mendelian Inheritance in Man (OMIM): 300749

semanticscholar.org

api.semanticscholar.org

Nakajiri, Tomoshi; Kobayashi, Katsuhiro; Okamoto, Nobuhiko; Oka, Makio; Miya, Fuyuki; Kosaki, Kenjiro; Yoshinaga, Harumi (October 2015). "Late-onset epileptic spasms in a female patient with a CASK mutation". Brain & Development. 37 (9): 919–923. doi:10.1016/j.braindev.2015.02.007. ISSN 1872-7131. PMID 25765806. S2CID 35591581.
Butz, S.; Okamoto, M.; Südhof, T. C. (1998-09-18). "A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain". Cell. 94 (6): 773–782. doi:10.1016/s0092-8674(00)81736-5. ISSN 0092-8674. PMID 9753324. S2CID 12465062.
Dubbs, Holly; Ortiz-Gonzalez, Xilma; Marsh, Eric D. (September 2022). "Pathogenic variants in CASK : Expanding the genotype–phenotype correlations". American Journal of Medical Genetics Part A. 188 (9): 2617–2626. doi:10.1002/ajmg.a.62863. ISSN 1552-4825. PMID 35670295. S2CID 249433609.
Froyen, Guy; Van Esch, Hilde; Bauters, Marijke; Hollanders, Karen; Frints, Suzanna G. M.; Vermeesch, Joris R.; Devriendt, Koen; Fryns, Jean-Pierre; Marynen, Peter (October 2007). "Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes". Human Mutation. 28 (10): 1034–1042. doi:10.1002/humu.20564. ISSN 1098-1004. PMID 17546640. S2CID 25495518.
Hayashi, Shin; Mizuno, Seiji; Migita, Ohsuke; Okuyama, Torayuki; Makita, Yoshio; Hata, Akira; Imoto, Issei; Inazawa, Johji (2008-08-15). "The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation". American Journal of Medical Genetics. Part A. 146A (16): 2145–2151. doi:10.1002/ajmg.a.32433. ISSN 1552-4833. PMID 18629876. S2CID 33739467.

wiley.com

onlinelibrary.wiley.com

Dubbs, Holly; Ortiz-Gonzalez, Xilma; Marsh, Eric D. (September 2022). "Pathogenic variants in CASK : Expanding the genotype–phenotype correlations". American Journal of Medical Genetics Part A. 188 (9): 2617–2626. doi:10.1002/ajmg.a.62863. ISSN 1552-4825. PMID 35670295. S2CID 249433609.

worldcat.org

search.worldcat.org

Burglen, Lydie; Chantot-Bastaraud, Sandra; Garel, Catherine; Milh, Mathieu; Touraine, Renaud; Zanni, Ginevra; Petit, Florence; Afenjar, Alexandra; Goizet, Cyril; Barresi, Sabina; Coussement, Aurélie; Ioos, Christine; Lazaro, Leila; Joriot, Sylvie; Desguerre, Isabelle (2012-03-27). "Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient". Orphanet Journal of Rare Diseases. 7: 18. doi:10.1186/1750-1172-7-18. ISSN 1750-1172. PMC 3351739. PMID 22452838.
Moog, Ute; Bierhals, Tatjana; Brand, Kristina; Bautsch, Jan; Biskup, Saskia; Brune, Thomas; Denecke, Jonas; de Die-Smulders, Christine E; Evers, Christina; Hempel, Maja; Henneke, Marco; Yntema, Helger; Menten, Björn; Pietz, Joachim; Pfundt, Rolph (2015-04-12). "Phenotypic and molecular insights into CASK-related disorders in males". Orphanet Journal of Rare Diseases. 10: 44. doi:10.1186/s13023-015-0256-3. ISSN 1750-1172. PMC 4449965. PMID 25886057.
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