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Hội chứng Phelan–McDermid (Vietnamese Wikipedia)

Analysis of information sources in references of the Wikipedia article "Hội chứng Phelan–McDermid" in Vietnamese language version.

refsWebsite
Global rank Vietnamese rank
9nih.gov
4th place
7th place
5doi.org
2nd place
2nd place
3worldcat.org
5th place
13th place
1rarediseasesnetwork.org
low place
low place
1inserm.fr
9,568th place
low place

doi.org

  • Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE (2015). “Letter to the editor regarding Disciglio et al.: interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome”. Am J Med Genet A. 167 (7): 1679–80. doi:10.1002/ajmg.a.36788. PMID 26295085.
  • Phelan MC, McDermid HE (2011). “The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)”. Mol Syndromol. 2 (1): 186–201. doi:10.1159/000334260. PMC 3366702. PMID 22670140.
  • Durand, Christelle M.; Betancur, Catalina; Boeckers, Tobias M.; Bockmann, Juergen; Chaste, Pauline; Fauchereau, Fabien; Nygren, Gudrun; Rastam, Maria; Gillberg, I. Carina (ngày 1 tháng 1 năm 2007). “Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders”. Nature Genetics. 39 (1): 25–27. doi:10.1038/ng1933. ISSN 1061-4036. PMC 2082049. PMID 17173049.
  • Oberman, Lindsay M.; Boccuto, Luigi; Cascio, Lauren; Sarasua, Sara; Kaufmann, Walter E. (ngày 27 tháng 8 năm 2015). “Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations”. Orphanet Journal of Rare Diseases (bằng tiếng Anh). 10 (1): 105. doi:10.1186/s13023-015-0323-9. ISSN 1750-1172. PMC 4549933. PMID 26306707.
  • Boccuto, Luigi; Lauri, Maria; Sarasua, Sara M.; Skinner, Cindy D.; Buccella, Daniela; Dwivedi, Alka; Orteschi, Daniela; Collins, Julianne S.; Zollino, Marcella (ngày 1 tháng 3 năm 2013). “Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders”. European Journal of Human Genetics (bằng tiếng Anh). 21 (3): 310–316. doi:10.1038/ejhg.2012.175. ISSN 1018-4813. PMC 3573207. PMID 22892527.

inserm.fr

hal.inserm.fr

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE (2015). “Letter to the editor regarding Disciglio et al.: interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome”. Am J Med Genet A. 167 (7): 1679–80. doi:10.1002/ajmg.a.36788. PMID 26295085.
  • Phelan MC, McDermid HE (2011). “The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)”. Mol Syndromol. 2 (1): 186–201. doi:10.1159/000334260. PMC 3366702. PMID 22670140.
  • Durand, Christelle M.; Betancur, Catalina; Boeckers, Tobias M.; Bockmann, Juergen; Chaste, Pauline; Fauchereau, Fabien; Nygren, Gudrun; Rastam, Maria; Gillberg, I. Carina (ngày 1 tháng 1 năm 2007). “Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders”. Nature Genetics. 39 (1): 25–27. doi:10.1038/ng1933. ISSN 1061-4036. PMC 2082049. PMID 17173049.
  • Oberman, Lindsay M.; Boccuto, Luigi; Cascio, Lauren; Sarasua, Sara; Kaufmann, Walter E. (ngày 27 tháng 8 năm 2015). “Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations”. Orphanet Journal of Rare Diseases (bằng tiếng Anh). 10 (1): 105. doi:10.1186/s13023-015-0323-9. ISSN 1750-1172. PMC 4549933. PMID 26306707.
  • Boccuto, Luigi; Lauri, Maria; Sarasua, Sara M.; Skinner, Cindy D.; Buccella, Daniela; Dwivedi, Alka; Orteschi, Daniela; Collins, Julianne S.; Zollino, Marcella (ngày 1 tháng 3 năm 2013). “Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders”. European Journal of Human Genetics (bằng tiếng Anh). 21 (3): 310–316. doi:10.1038/ejhg.2012.175. ISSN 1018-4813. PMC 3573207. PMID 22892527.

ncbi.nlm.nih.gov

rarediseasesnetwork.org

worldcat.org