Ectrodactyly–ectodermal dysplasia–cleft syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Ectrodactyly–ectodermal dysplasia–cleft syndrome" in English language version.

refsWebsite

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19nih.gov

4^th place

12doi.org

2^nd place

3semanticscholar.org

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8^th place

3archive.org

6^th place

1qut.edu.au

8,570^th place

5,097^th place

1merck.com

6,464^th place

5,671^st place

1harvard.edu

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archive.org

Peterson-Falzone, Sally J.; Mary A. Hardin-Jones; Michael P. Karnell; Betty Jane McWilliams (2001). Cleft Palate Speech. Mosby. ISBN 978-0-8151-3153-3.
Shprintzen, Robert J. (1997). Genetics, Syndromes, and Communication Disorders. Singular Pub. Group. ISBN 978-1-56593-620-1.
Batshaw, Mark L. (2002). Children with Disabilities. Baltimore: Paul H. Brookes. ISBN 978-1-55766-581-2.

doi.org

Buss PW, Hughes HE, Clarke A (September 1995). "Twenty-four cases of the EEC syndrome: clinical presentation and management". Journal of Medical Genetics. 32 (9): 716–723. doi:10.1136/jmg.32.9.716. PMC 1051673. PMID 8544192.
Celli J, Duijf P, Hamel BC, et al. (1999). "Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome" (PDF). Cell. 99 (2): 143–153. doi:10.1016/S0092-8674(00)81646-3. PMID 10535733. S2CID 18193864.
Ramirez D, Lammer EJ (2004). "Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations". Cleft Palate-Craniofacial Journal. 41 (5): 501–506. doi:10.1597/03-080.1. PMID 15352854. S2CID 20874635.
Brunner HG, Hamel BC, Van Bokhoven H (2002). "The p63 gene in EEC and other syndromes". Journal of Medical Genetics. 39 (6): 377–381. doi:10.1136/jmg.39.6.377. PMC 1735150. PMID 12070241.
Moerman P, Fryns JP (1996). "Ectodermal dysplasia, Rapp–Hodgkin type in a mother and severe ectrodactyly–ectodermal dysplasia–clefting syndrome (EEC) in her child". American Journal of Medical Genetics. 63 (3): 479–481. doi:10.1002/(SICI)1096-8628(19960614)63:3<479::AID-AJMG12>3.0.CO;2-J. PMID 8737656.
Ruhin B, Martinot V, Lafforgue P, Catteau B, Manouvrier-Hanu S, Ferri J (2001). "Pure ectodermal dysplasia: retrospective study of 16 cases and literature review". Cleft Palate-Craniofacial Journal. 38 (5): 504–518. doi:10.1597/1545-1569_2001_038_0504_pedrso_2.0.co_2. PMID 11522173. S2CID 208150324.
Peterson-Falzone SJ, Caldarelli DD, Landahl KL (1981). "Abnormal laryngeal vocal quality in ectodermal dysplasia". Archives of Otolaryngology. 107 (5): 300–304. doi:10.1001/archotol.1981.00790410038010. PMID 7224950.
Barrow LL, van Bokhoven H, Daack-Hirsch S, et al. (2002). "Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts". Journal of Medical Genetics. 39 (8): 559–566. doi:10.1136/jmg.39.8.559. PMC 1735218. PMID 12161593.
O'Quinn JR, Hennekam RC, Jorde LB, Bamshad M (1998). "Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19". American Journal of Human Genetics. 62 (1): 130–135. doi:10.1086/301687. PMC 1376811. PMID 9443880.
Shalom Feuerstein R.; et al. (2012). "Impaired epithelial differentiation of induced pluripotent stem cells from EEC patients is rescued by APR-246/PRIMA-1MET". Proceedings of the National Academy of Sciences, USA. 110 (6): 2152–2156. doi:10.1073/pnas.1201753109. PMC 3568301. PMID 23355677.
Shen J, van den Bogaard EH, Kouwenhoven EN, Bykov VJ, Rinne T, Zhang Q, Tjabringa GS, Gilissen C, van Heeringen SJ, Schalkwijk J, van Bokhoven H, Wiman KG, Zhou H (2013). "APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations". Proceedings of the National Academy of Sciences, USA. 110 (6): 2157–2162. Bibcode:2013PNAS..110.2157S. doi:10.1073/pnas.1201993110. PMC 3568378. PMID 23355676.
Zhou H, Aberdam D (2013). "A step closer toward therapies for p63-related disorders". Rare Diseases. 1: e24247. doi:10.4161/rdis.24247. PMC 3932939. PMID 25002990.

harvard.edu

ui.adsabs.harvard.edu

Shen J, van den Bogaard EH, Kouwenhoven EN, Bykov VJ, Rinne T, Zhang Q, Tjabringa GS, Gilissen C, van Heeringen SJ, Schalkwijk J, van Bokhoven H, Wiman KG, Zhou H (2013). "APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations". Proceedings of the National Academy of Sciences, USA. 110 (6): 2157–2162. Bibcode:2013PNAS..110.2157S. doi:10.1073/pnas.1201993110. PMC 3568378. PMID 23355676.

merck.com

Hall, Judith G. (August 2007). "Chromosomes and Genes". Merck. Retrieved 2008-10-01.

nih.gov

pubmed.ncbi.nlm.nih.gov

Buss PW, Hughes HE, Clarke A (September 1995). "Twenty-four cases of the EEC syndrome: clinical presentation and management". Journal of Medical Genetics. 32 (9): 716–723. doi:10.1136/jmg.32.9.716. PMC 1051673. PMID 8544192.
Celli J, Duijf P, Hamel BC, et al. (1999). "Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome" (PDF). Cell. 99 (2): 143–153. doi:10.1016/S0092-8674(00)81646-3. PMID 10535733. S2CID 18193864.
Ramirez D, Lammer EJ (2004). "Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations". Cleft Palate-Craniofacial Journal. 41 (5): 501–506. doi:10.1597/03-080.1. PMID 15352854. S2CID 20874635.
Brunner HG, Hamel BC, Van Bokhoven H (2002). "The p63 gene in EEC and other syndromes". Journal of Medical Genetics. 39 (6): 377–381. doi:10.1136/jmg.39.6.377. PMC 1735150. PMID 12070241.
Moerman P, Fryns JP (1996). "Ectodermal dysplasia, Rapp–Hodgkin type in a mother and severe ectrodactyly–ectodermal dysplasia–clefting syndrome (EEC) in her child". American Journal of Medical Genetics. 63 (3): 479–481. doi:10.1002/(SICI)1096-8628(19960614)63:3<479::AID-AJMG12>3.0.CO;2-J. PMID 8737656.
Ruhin B, Martinot V, Lafforgue P, Catteau B, Manouvrier-Hanu S, Ferri J (2001). "Pure ectodermal dysplasia: retrospective study of 16 cases and literature review". Cleft Palate-Craniofacial Journal. 38 (5): 504–518. doi:10.1597/1545-1569_2001_038_0504_pedrso_2.0.co_2. PMID 11522173. S2CID 208150324.
Peterson-Falzone SJ, Caldarelli DD, Landahl KL (1981). "Abnormal laryngeal vocal quality in ectodermal dysplasia". Archives of Otolaryngology. 107 (5): 300–304. doi:10.1001/archotol.1981.00790410038010. PMID 7224950.
Barrow LL, van Bokhoven H, Daack-Hirsch S, et al. (2002). "Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts". Journal of Medical Genetics. 39 (8): 559–566. doi:10.1136/jmg.39.8.559. PMC 1735218. PMID 12161593.
O'Quinn JR, Hennekam RC, Jorde LB, Bamshad M (1998). "Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19". American Journal of Human Genetics. 62 (1): 130–135. doi:10.1086/301687. PMC 1376811. PMID 9443880.
Shalom Feuerstein R.; et al. (2012). "Impaired epithelial differentiation of induced pluripotent stem cells from EEC patients is rescued by APR-246/PRIMA-1MET". Proceedings of the National Academy of Sciences, USA. 110 (6): 2152–2156. doi:10.1073/pnas.1201753109. PMC 3568301. PMID 23355677.
Shen J, van den Bogaard EH, Kouwenhoven EN, Bykov VJ, Rinne T, Zhang Q, Tjabringa GS, Gilissen C, van Heeringen SJ, Schalkwijk J, van Bokhoven H, Wiman KG, Zhou H (2013). "APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations". Proceedings of the National Academy of Sciences, USA. 110 (6): 2157–2162. Bibcode:2013PNAS..110.2157S. doi:10.1073/pnas.1201993110. PMC 3568378. PMID 23355676.
Zhou H, Aberdam D (2013). "A step closer toward therapies for p63-related disorders". Rare Diseases. 1: e24247. doi:10.4161/rdis.24247. PMC 3932939. PMID 25002990.

ncbi.nlm.nih.gov

Buss PW, Hughes HE, Clarke A (September 1995). "Twenty-four cases of the EEC syndrome: clinical presentation and management". Journal of Medical Genetics. 32 (9): 716–723. doi:10.1136/jmg.32.9.716. PMC 1051673. PMID 8544192.
Brunner HG, Hamel BC, Van Bokhoven H (2002). "The p63 gene in EEC and other syndromes". Journal of Medical Genetics. 39 (6): 377–381. doi:10.1136/jmg.39.6.377. PMC 1735150. PMID 12070241.
Barrow LL, van Bokhoven H, Daack-Hirsch S, et al. (2002). "Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts". Journal of Medical Genetics. 39 (8): 559–566. doi:10.1136/jmg.39.8.559. PMC 1735218. PMID 12161593.
O'Quinn JR, Hennekam RC, Jorde LB, Bamshad M (1998). "Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19". American Journal of Human Genetics. 62 (1): 130–135. doi:10.1086/301687. PMC 1376811. PMID 9443880.
Shalom Feuerstein R.; et al. (2012). "Impaired epithelial differentiation of induced pluripotent stem cells from EEC patients is rescued by APR-246/PRIMA-1MET". Proceedings of the National Academy of Sciences, USA. 110 (6): 2152–2156. doi:10.1073/pnas.1201753109. PMC 3568301. PMID 23355677.
Shen J, van den Bogaard EH, Kouwenhoven EN, Bykov VJ, Rinne T, Zhang Q, Tjabringa GS, Gilissen C, van Heeringen SJ, Schalkwijk J, van Bokhoven H, Wiman KG, Zhou H (2013). "APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations". Proceedings of the National Academy of Sciences, USA. 110 (6): 2157–2162. Bibcode:2013PNAS..110.2157S. doi:10.1073/pnas.1201993110. PMC 3568378. PMID 23355676.
Zhou H, Aberdam D (2013). "A step closer toward therapies for p63-related disorders". Rare Diseases. 1: e24247. doi:10.4161/rdis.24247. PMC 3932939. PMID 25002990.

qut.edu.au

eprints.qut.edu.au

Celli J, Duijf P, Hamel BC, et al. (1999). "Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome" (PDF). Cell. 99 (2): 143–153. doi:10.1016/S0092-8674(00)81646-3. PMID 10535733. S2CID 18193864.

semanticscholar.org

api.semanticscholar.org

Celli J, Duijf P, Hamel BC, et al. (1999). "Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome" (PDF). Cell. 99 (2): 143–153. doi:10.1016/S0092-8674(00)81646-3. PMID 10535733. S2CID 18193864.
Ramirez D, Lammer EJ (2004). "Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations". Cleft Palate-Craniofacial Journal. 41 (5): 501–506. doi:10.1597/03-080.1. PMID 15352854. S2CID 20874635.
Ruhin B, Martinot V, Lafforgue P, Catteau B, Manouvrier-Hanu S, Ferri J (2001). "Pure ectodermal dysplasia: retrospective study of 16 cases and literature review". Cleft Palate-Craniofacial Journal. 38 (5): 504–518. doi:10.1597/1545-1569_2001_038_0504_pedrso_2.0.co_2. PMID 11522173. S2CID 208150324.