Acrocallosal syndrome (English Wikipedia)

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

refsWebsite

Global rank English rank

11nih.gov

4^th place

6doi.org

2^nd place

1eurordis.org

low place

1omim.org

4,380^th place

4,305^th place

1worldcat.org

5^th place

doi.org

Elson E, Perveen R, Donnai D, Wall S, Black GC (November 2002). "De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models". J. Med. Genet. 39 (11): 804–6. doi:10.1136/jmg.39.11.804. PMC 1735022. PMID 12414818.
Walsh D.; Shalev S.; Simpson M.; Morgan N.; Gelman-Kohan Z.; Chemke J.; Trembath R.; Maher E. (2013). "Acrocallosal syndrome: Identification of a novel KIF7 mutation and evidence for oligogenic inheritance". European Journal of Medical Genetics. 56 (1): 39–42. doi:10.1016/j.ejmg.2012.10.004. PMID 23142271.
Putoux, Audrey; Thomas, Sophie; Coene, Karlien L M; Davis, Erica E; Alanay, Yasemin; Ogur, Gönül; Uz, Elif; Buzas, Daniela; Gomes, Céline (2013-06-06). "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes". Nature Genetics. 43 (6): 601–606. doi:10.1038/ng.826. ISSN 1061-4036. PMC 3674836. PMID 21552264.
Courtens W, Vamos E, Christophe C, Schinzel A (1997). "Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome". Am J Med Genet. 69 (1): 17–22. doi:10.1002/(sici)1096-8628(19970303)69:1<17::aid-ajmg4>3.0.co;2-q. PMID 9066878.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Koenig R.; Bach A.; Ulrike W.; Grzeschik K-H; Fuchs S. (2002). "Spectrum of the acrocallosal syndrome". American Journal of Medical Genetics. 108 (1): 7–11. doi:10.1002/ajmg.10236. PMID 11857542.
Ramteke VV, Darole PA, Shaikh ZF, Padwal NJ, Agrawal B, Shrivastava MS; et al. (2011). "Acrocallosal syndrome in a young hypertensive male". BMJ Case Rep. 2011: bcr1220103648. doi:10.1136/bcr.12.2010.3648. PMC 3089937. PMID 22696705.{{cite journal}}: CS1 maint: multiple names: authors list (link)

eurordis.org

"European Conference on Rare Diseases" (PDF). European organisation for Rare Diseases. June 21–22, 2005. p. 35. Retrieved 2021-12-05.

nih.gov

pubmed.ncbi.nlm.nih.gov

Schinzel, Albert (May 1979). "Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macroencephaly and severe mental retardation: a new syndrome?". Helvetica Paediatrica Acta. 34 (2): 141–6. PMID 457430.
Elson E, Perveen R, Donnai D, Wall S, Black GC (November 2002). "De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models". J. Med. Genet. 39 (11): 804–6. doi:10.1136/jmg.39.11.804. PMC 1735022. PMID 12414818.
Walsh D.; Shalev S.; Simpson M.; Morgan N.; Gelman-Kohan Z.; Chemke J.; Trembath R.; Maher E. (2013). "Acrocallosal syndrome: Identification of a novel KIF7 mutation and evidence for oligogenic inheritance". European Journal of Medical Genetics. 56 (1): 39–42. doi:10.1016/j.ejmg.2012.10.004. PMID 23142271.
Putoux, Audrey; Thomas, Sophie; Coene, Karlien L M; Davis, Erica E; Alanay, Yasemin; Ogur, Gönül; Uz, Elif; Buzas, Daniela; Gomes, Céline (2013-06-06). "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes". Nature Genetics. 43 (6): 601–606. doi:10.1038/ng.826. ISSN 1061-4036. PMC 3674836. PMID 21552264.
Courtens W, Vamos E, Christophe C, Schinzel A (1997). "Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome". Am J Med Genet. 69 (1): 17–22. doi:10.1002/(sici)1096-8628(19970303)69:1<17::aid-ajmg4>3.0.co;2-q. PMID 9066878.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Koenig R.; Bach A.; Ulrike W.; Grzeschik K-H; Fuchs S. (2002). "Spectrum of the acrocallosal syndrome". American Journal of Medical Genetics. 108 (1): 7–11. doi:10.1002/ajmg.10236. PMID 11857542.
Ramteke VV, Darole PA, Shaikh ZF, Padwal NJ, Agrawal B, Shrivastava MS; et al. (2011). "Acrocallosal syndrome in a young hypertensive male". BMJ Case Rep. 2011: bcr1220103648. doi:10.1136/bcr.12.2010.3648. PMC 3089937. PMID 22696705.{{cite journal}}: CS1 maint: multiple names: authors list (link)

ncbi.nlm.nih.gov

Elson E, Perveen R, Donnai D, Wall S, Black GC (November 2002). "De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models". J. Med. Genet. 39 (11): 804–6. doi:10.1136/jmg.39.11.804. PMC 1735022. PMID 12414818.
Putoux, Audrey; Thomas, Sophie; Coene, Karlien L M; Davis, Erica E; Alanay, Yasemin; Ogur, Gönül; Uz, Elif; Buzas, Daniela; Gomes, Céline (2013-06-06). "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes". Nature Genetics. 43 (6): 601–606. doi:10.1038/ng.826. ISSN 1061-4036. PMC 3674836. PMID 21552264.
Ramteke VV, Darole PA, Shaikh ZF, Padwal NJ, Agrawal B, Shrivastava MS; et al. (2011). "Acrocallosal syndrome in a young hypertensive male". BMJ Case Rep. 2011: bcr1220103648. doi:10.1136/bcr.12.2010.3648. PMC 3089937. PMID 22696705.{{cite journal}}: CS1 maint: multiple names: authors list (link)

rarediseases.info.nih.gov

"Acrocallosal syndrome, Schinzel type". Genetic and Rare Diseases Information Center. NIH National Center for Advancing Translational Sciences. Retrieved 2021-12-05.

omim.org

Online Mendelian Inheritance in Man (OMIM): Acrocallosal syndrome; ACLS - 200990

worldcat.org

search.worldcat.org

Putoux, Audrey; Thomas, Sophie; Coene, Karlien L M; Davis, Erica E; Alanay, Yasemin; Ogur, Gönül; Uz, Elif; Buzas, Daniela; Gomes, Céline (2013-06-06). "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes". Nature Genetics. 43 (6): 601–606. doi:10.1038/ng.826. ISSN 1061-4036. PMC 3674836. PMID 21552264.