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Pfeiffer syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Pfeiffer syndrome" in English language version.

refsWebsite
Global rank English rank
12nih.gov
4th place
4th place
9doi.org
2nd place
2nd place
3semanticscholar.org
11th place
8th place
2medlineplus.gov
1,581st place
1,299th place
1rarediseases.org
5,181st place
3,260th place
1childrensnational.org
low place
low place
1whonamedit.com
2,888th place
2,730th place
1go.com
48th place
39th place
1ibtimes.com.au
low place
6,612th place
1stern.de
597th place
3,094th place

childrensnational.org

doi.org

  • Vogels A, Fryns JP (2006). "Pfeiffer syndrome". Orphanet J Rare Dis. 1: 19. doi:10.1186/1750-1172-1-19. PMC 1482682. PMID 16740155.
  • Pfeiffer RA (1964). "Dominant erbliche Akrocephalosyndaktylie" [Dominant Hereditary Acrocephalosyndactylia]. Zeitschrift für Kinderheilkunde (in German). 90 (4): 301–20. doi:10.1007/BF00447500. PMID 14316612. S2CID 35706808.
  • Muenke M; Schell U; Hehr A; Robin NH; Losken HW; Schinzel A; et al. (1994). "A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome". Nat Genet. 8 (3): 269–74. doi:10.1038/ng1194-269. PMID 7874169. S2CID 40033932.
  • Rutland P; Pulleyn LJ; Reardon W; Baraitser M; Hayward R; Jones B; et al. (1995). "Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes". Nat Genet. 9 (2): 173–6. doi:10.1038/ng0295-173. PMID 7719345. S2CID 927144.
  • Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, et al. (1995). "Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome". Hum Mol Genet. 4 (3): 323–8. doi:10.1093/hmg/4.3.323. PMID 7795583.
  • Chan CT, Thorogood P (1999). "Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development". Pediatr. Res. 45 (1): 46–53. doi:10.1203/00006450-199901000-00008. PMID 9890607.
  • Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, et al. (2000). "Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome". Am J Hum Genet. 66 (3): 768–77. doi:10.1086/302831. PMC 1288162. PMID 10712195.
  • Cohen MM (1993). "Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis". Am J Med Genet. 45 (3): 300–7. doi:10.1002/ajmg.1320450305. PMID 8434615.
  • Robin NH; Scott JA; Arnold JE; Goldstein JA; Shilling BB; Marion RW; et al. (1998). "Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification". Am J Med Genet. 75 (3): 240–4. doi:10.1002/(sici)1096-8628(19980123)75:3<240::aid-ajmg2>3.3.co;2-c. PMID 9475589.

go.com

abcnews.go.com

ibtimes.com.au

medlineplus.gov

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Vogels A, Fryns JP (2006). "Pfeiffer syndrome". Orphanet J Rare Dis. 1: 19. doi:10.1186/1750-1172-1-19. PMC 1482682. PMID 16740155.
  • Pfeiffer RA (1964). "Dominant erbliche Akrocephalosyndaktylie" [Dominant Hereditary Acrocephalosyndactylia]. Zeitschrift für Kinderheilkunde (in German). 90 (4): 301–20. doi:10.1007/BF00447500. PMID 14316612. S2CID 35706808.
  • Muenke M; Schell U; Hehr A; Robin NH; Losken HW; Schinzel A; et al. (1994). "A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome". Nat Genet. 8 (3): 269–74. doi:10.1038/ng1194-269. PMID 7874169. S2CID 40033932.
  • Rutland P; Pulleyn LJ; Reardon W; Baraitser M; Hayward R; Jones B; et al. (1995). "Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes". Nat Genet. 9 (2): 173–6. doi:10.1038/ng0295-173. PMID 7719345. S2CID 927144.
  • Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, et al. (1995). "Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome". Hum Mol Genet. 4 (3): 323–8. doi:10.1093/hmg/4.3.323. PMID 7795583.
  • Chan CT, Thorogood P (1999). "Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development". Pediatr. Res. 45 (1): 46–53. doi:10.1203/00006450-199901000-00008. PMID 9890607.
  • Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, et al. (2000). "Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome". Am J Hum Genet. 66 (3): 768–77. doi:10.1086/302831. PMC 1288162. PMID 10712195.
  • Cohen MM (1993). "Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis". Am J Med Genet. 45 (3): 300–7. doi:10.1002/ajmg.1320450305. PMID 8434615.
  • Robin NH; Scott JA; Arnold JE; Goldstein JA; Shilling BB; Marion RW; et al. (1998). "Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification". Am J Med Genet. 75 (3): 240–4. doi:10.1002/(sici)1096-8628(19980123)75:3<240::aid-ajmg2>3.3.co;2-c. PMID 9475589.

ncbi.nlm.nih.gov

  • Vogels A, Fryns JP (2006). "Pfeiffer syndrome". Orphanet J Rare Dis. 1: 19. doi:10.1186/1750-1172-1-19. PMC 1482682. PMID 16740155.
  • Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, et al. (2000). "Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome". Am J Hum Genet. 66 (3): 768–77. doi:10.1086/302831. PMC 1288162. PMID 10712195.

rarediseases.info.nih.gov

  • National Institutes of Health, Genetic and Rare Diseases (GARD) Information Center (2016-04-01). "Pfeiffer syndrome: Symptoms". Retrieved 2016-05-08.

rarediseases.org

semanticscholar.org

api.semanticscholar.org

  • Pfeiffer RA (1964). "Dominant erbliche Akrocephalosyndaktylie" [Dominant Hereditary Acrocephalosyndactylia]. Zeitschrift für Kinderheilkunde (in German). 90 (4): 301–20. doi:10.1007/BF00447500. PMID 14316612. S2CID 35706808.
  • Muenke M; Schell U; Hehr A; Robin NH; Losken HW; Schinzel A; et al. (1994). "A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome". Nat Genet. 8 (3): 269–74. doi:10.1038/ng1194-269. PMID 7874169. S2CID 40033932.
  • Rutland P; Pulleyn LJ; Reardon W; Baraitser M; Hayward R; Jones B; et al. (1995). "Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes". Nat Genet. 9 (2): 173–6. doi:10.1038/ng0295-173. PMID 7719345. S2CID 927144.

stern.de

whonamedit.com