Sindrome di Pfeiffer (Italian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Sindrome di Pfeiffer" in Italian language version.

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9doi.org

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9nih.gov

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1biomedcentral.com

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1whonamedit.com

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biomedcentral.com

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Vogels, A., & Fryns, J. P., Pfeiffer syndrome, in Orphanet J Rare Dis, vol. 1, 2006, p. 19, DOI:10.1186/1750-1172-1-19, PMC 1482682, PMID 16740155.

cell.com

Glaser R. L., Jiang W., Boyadjiev S. A., Tran A. K., Zachary A. A., & Van Maldergem L., Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome, in Am J Hum Genet, vol. 66, n. 3, 2000, pp. 768-777, DOI:10.1086/302831, PMC 1288162, PMID 10712195.

doi.org

dx.doi.org

Vogels, A., & Fryns, J. P., Pfeiffer syndrome, in Orphanet J Rare Dis, vol. 1, 2006, p. 19, DOI:10.1186/1750-1172-1-19, PMC 1482682, PMID 16740155.
Cohen MM, Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis, in Am J Med Genet, vol. 45, n. 3, 1993, pp. 300-7, DOI:10.1002/ajmg.1320450305, PMID 8434615.
(DE) Pfeiffer RA, Dominant erbliche Akrocephalosyndaktylie, in Zeitschrift für Kinderheilkunde, vol. 90, 1964, pp. 301-320, DOI:10.1007/BF00447500, PMID 14316612.
Muenke M., Schell U., Hehr A., Robin N. H., Losken H. W. & Schinzel A., A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome, in Nat Genet, vol. 8, n. 3, 1994, pp. 269-274, DOI:10.1038/ng1194-269, PMID 7874169.
Rutland P., Pulleyn L. J., Reardon W., Baraitser M., Hayward R., & Jones B., Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes, in Nat Genet, vol. 9, n. 2, 1995, pp. 173-6, DOI:10.1038/ng0295-173, PMID 7719345.
Schell U., Hehr A., Feldman G. J., Robin N. H., Zackai E. H., de Die-Smulders C., Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome, in Hum Mol Genet, vol. 4, n. 3, 1995, pp. 323-328, DOI:10.1093/hmg/4.3.323, PMID 7795583.
Chan C. T., & Thorogood P., Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development, in Pediatr. Res., vol. 45, n. 1, 1999, pp. 46-53, DOI:10.1203/00006450-199901000-00008, PMID 9890607.
Glaser R. L., Jiang W., Boyadjiev S. A., Tran A. K., Zachary A. A., & Van Maldergem L., Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome, in Am J Hum Genet, vol. 66, n. 3, 2000, pp. 768-777, DOI:10.1086/302831, PMC 1288162, PMID 10712195.
Robin NH, Scott JA, Arnold JE, Goldstein JA, Shilling BB e Marion RW, <240::aid-ajmg2>3.3.co;2-c Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification, in Am J Med Genet, vol. 75, n. 3, 1998, pp. 240-244, DOI:10.1002/(sici)1096-8628(19980123)75:3<240::aid-ajmg2>3.3.co;2-c, PMID 9475589.

nih.gov

ncbi.nlm.nih.gov

Vogels, A., & Fryns, J. P., Pfeiffer syndrome, in Orphanet J Rare Dis, vol. 1, 2006, p. 19, DOI:10.1186/1750-1172-1-19, PMC 1482682, PMID 16740155.
Cohen MM, Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis, in Am J Med Genet, vol. 45, n. 3, 1993, pp. 300-7, DOI:10.1002/ajmg.1320450305, PMID 8434615.
(DE) Pfeiffer RA, Dominant erbliche Akrocephalosyndaktylie, in Zeitschrift für Kinderheilkunde, vol. 90, 1964, pp. 301-320, DOI:10.1007/BF00447500, PMID 14316612.
Muenke M., Schell U., Hehr A., Robin N. H., Losken H. W. & Schinzel A., A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome, in Nat Genet, vol. 8, n. 3, 1994, pp. 269-274, DOI:10.1038/ng1194-269, PMID 7874169.
Rutland P., Pulleyn L. J., Reardon W., Baraitser M., Hayward R., & Jones B., Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes, in Nat Genet, vol. 9, n. 2, 1995, pp. 173-6, DOI:10.1038/ng0295-173, PMID 7719345.
Schell U., Hehr A., Feldman G. J., Robin N. H., Zackai E. H., de Die-Smulders C., Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome, in Hum Mol Genet, vol. 4, n. 3, 1995, pp. 323-328, DOI:10.1093/hmg/4.3.323, PMID 7795583.
Chan C. T., & Thorogood P., Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development, in Pediatr. Res., vol. 45, n. 1, 1999, pp. 46-53, DOI:10.1203/00006450-199901000-00008, PMID 9890607.
Glaser R. L., Jiang W., Boyadjiev S. A., Tran A. K., Zachary A. A., & Van Maldergem L., Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome, in Am J Hum Genet, vol. 66, n. 3, 2000, pp. 768-777, DOI:10.1086/302831, PMC 1288162, PMID 10712195.
Robin NH, Scott JA, Arnold JE, Goldstein JA, Shilling BB e Marion RW, <240::aid-ajmg2>3.3.co;2-c Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification, in Am J Med Genet, vol. 75, n. 3, 1998, pp. 240-244, DOI:10.1002/(sici)1096-8628(19980123)75:3<240::aid-ajmg2>3.3.co;2-c, PMID 9475589.

oadoi.org

Cohen MM, Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis, in Am J Med Genet, vol. 45, n. 3, 1993, pp. 300-7, DOI:10.1002/ajmg.1320450305, PMID 8434615.
(DE) Pfeiffer RA, Dominant erbliche Akrocephalosyndaktylie, in Zeitschrift für Kinderheilkunde, vol. 90, 1964, pp. 301-320, DOI:10.1007/BF00447500, PMID 14316612.
Muenke M., Schell U., Hehr A., Robin N. H., Losken H. W. & Schinzel A., A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome, in Nat Genet, vol. 8, n. 3, 1994, pp. 269-274, DOI:10.1038/ng1194-269, PMID 7874169.
Rutland P., Pulleyn L. J., Reardon W., Baraitser M., Hayward R., & Jones B., Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes, in Nat Genet, vol. 9, n. 2, 1995, pp. 173-6, DOI:10.1038/ng0295-173, PMID 7719345.
Schell U., Hehr A., Feldman G. J., Robin N. H., Zackai E. H., de Die-Smulders C., Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome, in Hum Mol Genet, vol. 4, n. 3, 1995, pp. 323-328, DOI:10.1093/hmg/4.3.323, PMID 7795583.
Chan C. T., & Thorogood P., Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development, in Pediatr. Res., vol. 45, n. 1, 1999, pp. 46-53, DOI:10.1203/00006450-199901000-00008, PMID 9890607.
Robin NH, Scott JA, Arnold JE, Goldstein JA, Shilling BB e Marion RW, <240::aid-ajmg2>3.3.co;2-c Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification, in Am J Med Genet, vol. 75, n. 3, 1998, pp. 240-244, DOI:10.1002/(sici)1096-8628(19980123)75:3<240::aid-ajmg2>3.3.co;2-c, PMID 9475589.

web.archive.org

National Institutes of Health, Genetic and Rare Diseases (GARD) Information Center, Pfeiffer syndrome: Symptoms, su rarediseases.info.nih.gov, 1º aprile 2016. URL consultato il 22 agosto 2018 (archiviato dall'url originale il 9 maggio 2016).

whonamedit.com

Whonamedit?, Pfeiffer's syndrome (Rudolf Arthur Pfeiffer), su whonamedit.com. URL consultato il 22 agosto 2018.