Hay–Wells syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Hay–Wells syndrome" in English language version.

refsWebsite

Global rank English rank

22nih.gov

4^th place

17doi.org

2^nd place

7semanticscholar.org

11^th place

8^th place

1omim.org

4,380^th place

4,305^th place

1medscape.com

719^th place

636^th place

1mhmedical.com

6,846^th place

4,957^th place

doi.org

McGrath, John A.; Duijf, Pascal H.G.; Doetsch, Volker; Irvine, Alan D.; de Waal, Rob; Vanmolkot, Kaate R.J.; Wessagowit, Vesarat; Kelly, Alexander; Atherton, David J.; Griffiths, W. Andrew D.; Orlow, Seth J.; van Haeringen, Arie; Ausems, Margreet G.E.M.; Yang, Annie; McKeon, Frank; Bamshad, Michael A.; Brunner, Han G.; Hamel, Ben C.J.; van Bokhoven, Hans (2001). "Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63". Human Molecular Genetics. 10 (3): 221–9. doi:10.1093/hmg/10.3.221. PMID 11159940.
Nagaveni, NB; Umashankara, KV (2011). "Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder". Indian Journal of Human Genetics. 17 (3): 245–6. doi:10.4103/0971-6866.92084. PMC 3277001. PMID 22346004.
Macias, Emilio; de Carlos, Felix; Cobo, Juan (2006). "Hay–Wells syndrome (AEC): a case report". Oral Diseases. 12 (5): 506–8. doi:10.1111/j.1601-0825.2006.01227.x. PMID 16910923.
Rinne, Tuula; Bolat, Emine; Meijer, Rowdy; Scheffer, Hans; van Bokhoven, Hans (2009). "Spectrum ofp63mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)". American Journal of Medical Genetics Part A. 149A (9): 1948–51. doi:10.1002/ajmg.a.32793. PMID 19676060. S2CID 8094555.
Senoo, Makoto; Pinto, Filipa; Crum, Christopher P.; McKeon, Frank (2007). "p63 Is Essential for the Proliferative Potential of Stem Cells in Stratified Epithelia". Cell. 129 (3): 523–36. doi:10.1016/j.cell.2007.02.045. PMID 17482546. S2CID 12973449.
Brunner, H G; Hamel, B C J; van Bokhoven, H (2002). "The p63 gene in EEC and other syndromes". Journal of Medical Genetics. 39 (6): 377–81. doi:10.1136/jmg.39.6.377. PMC 1735150. PMID 12070241.
Julapalli, Meena R.; Scher, Richard K.; Sybert, Virginia P.; Siegfried, Elaine C.; Bree, Alanna F. (2009). "Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome". American Journal of Medical Genetics Part A. 149A (9): 1900–6. doi:10.1002/ajmg.a.32797. PMID 19681128. S2CID 205310929.
Zarnegar, Brian J.; Webster, Dan E.; Lopez-Pajares, Vanessa; Vander Stoep Hunt, Brook; Qu, Kun; Yan, Karen J.; Berk, David R.; Sen, George L.; Khavari, Paul A. (2012). "Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63". The American Journal of Human Genetics. 91 (3): 435–43. doi:10.1016/j.ajhg.2012.07.007. PMC 3511987. PMID 22922031.
Chan, I.; McGrath, J. A.; Kivirikko, S. (2005). "Rapp–Hodgkin syndrome and the tail of p63". Clinical and Experimental Dermatology. 30 (2): 183–6. doi:10.1111/j.1365-2230.2004.01715.x. PMID 15725251. S2CID 43530434.
Koster, Maranke I; Roop, Dennis R. (2004). "The role of p63 in development and differentiation of the epidermis". Journal of Dermatological Science. 34 (1): 3–9. doi:10.1016/j.jdermsci.2003.10.003. PMID 14757276.
van Bokhoven, Hans; Brunner, Han G. (2002). "Splitting p63". The American Journal of Human Genetics. 71 (1): 1–13. doi:10.1086/341450. PMC 384966. PMID 12037717.
Birnbaum, Ramon Y; Zvulunov, Alex; Hallel-Halevy, Dafna; Cagnano, Emanuella; Finer, Gal; Ofir, Rivka; Geiger, Dan; Silberstein, Eldad; Feferman, Yael; Birk, Ohad S (2006). "Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein". Nature Genetics. 38 (7): 749–51. doi:10.1038/ng1813. PMID 16751772. S2CID 1033959.
Yang, Chi-Fan; Hwu, Wuh-Liang; Yang, Li-Cheng; Chung, Wen-Hung; Chien, Yin-Hsiu; Hung, Chia-Fu; Chen, Hung-Chih; Tsai, Pei-Joung; Fann, Cathy S J; Liao, Fang; Chen, Yuan-Tsong (2008). "A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis". Journal of Investigative Dermatology. 128 (7): 1662–8. doi:10.1038/jid.2008.1. PMID 18256691.
Seiberg, M.; Paine, C.; Sharlow, E.; Andrade-Gordon, P.; Costanzo, M.; Eisinger, M.; Shapiro, S.S. (2000). "The Protease-Activated Receptor 2 Regulates Pigmentation via Keratinocyte-Melanocyte Interactions". Experimental Cell Research. 254 (1): 25–32. doi:10.1006/excr.1999.4692. PMID 10623462.
Motil, Kathleen J.; Fete, Timothy J. (2009). "Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome". American Journal of Medical Genetics Part A. 149A (9): 1922–5. doi:10.1002/ajmg.a.32789. PMID 19676058. S2CID 22501525.
Koster, Maranke I.; Marinari, Barbara; Payne, Aimee S.; Kantaputra, Piranit N.; Costanzo, Antonio; Roop, Dennis R. (2009). "ΔNp63 knockdown mice: A mouse model for AEC syndrome". American Journal of Medical Genetics Part A. 149A (9): 1942–7. doi:10.1002/ajmg.a.32794. PMC 2753548. PMID 19681108.
Hay, R.J.; Wells, R.S. (1976). "The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition". British Journal of Dermatology. 94 (3): 277–89. doi:10.1111/j.1365-2133.1976.tb04384.x. PMID 946410. S2CID 29335053.

medscape.com

emedicine.medscape.com

Ectodermal Dysplasia~clinical at eMedicine

mhmedical.com

accessanesthesiology.mhmedical.com

Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "AEC Syndrome", Syndromes: Rapid Recognition and Perioperative Implications, New York, NY: The McGraw-Hill Companies, retrieved 2021-02-23

nih.gov

pubmed.ncbi.nlm.nih.gov

McGrath, John A.; Duijf, Pascal H.G.; Doetsch, Volker; Irvine, Alan D.; de Waal, Rob; Vanmolkot, Kaate R.J.; Wessagowit, Vesarat; Kelly, Alexander; Atherton, David J.; Griffiths, W. Andrew D.; Orlow, Seth J.; van Haeringen, Arie; Ausems, Margreet G.E.M.; Yang, Annie; McKeon, Frank; Bamshad, Michael A.; Brunner, Han G.; Hamel, Ben C.J.; van Bokhoven, Hans (2001). "Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63". Human Molecular Genetics. 10 (3): 221–9. doi:10.1093/hmg/10.3.221. PMID 11159940.
Nagaveni, NB; Umashankara, KV (2011). "Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder". Indian Journal of Human Genetics. 17 (3): 245–6. doi:10.4103/0971-6866.92084. PMC 3277001. PMID 22346004.
Macias, Emilio; de Carlos, Felix; Cobo, Juan (2006). "Hay–Wells syndrome (AEC): a case report". Oral Diseases. 12 (5): 506–8. doi:10.1111/j.1601-0825.2006.01227.x. PMID 16910923.
Rinne, Tuula; Bolat, Emine; Meijer, Rowdy; Scheffer, Hans; van Bokhoven, Hans (2009). "Spectrum ofp63mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)". American Journal of Medical Genetics Part A. 149A (9): 1948–51. doi:10.1002/ajmg.a.32793. PMID 19676060. S2CID 8094555.
Senoo, Makoto; Pinto, Filipa; Crum, Christopher P.; McKeon, Frank (2007). "p63 Is Essential for the Proliferative Potential of Stem Cells in Stratified Epithelia". Cell. 129 (3): 523–36. doi:10.1016/j.cell.2007.02.045. PMID 17482546. S2CID 12973449.
Brunner, H G; Hamel, B C J; van Bokhoven, H (2002). "The p63 gene in EEC and other syndromes". Journal of Medical Genetics. 39 (6): 377–81. doi:10.1136/jmg.39.6.377. PMC 1735150. PMID 12070241.
Julapalli, Meena R.; Scher, Richard K.; Sybert, Virginia P.; Siegfried, Elaine C.; Bree, Alanna F. (2009). "Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome". American Journal of Medical Genetics Part A. 149A (9): 1900–6. doi:10.1002/ajmg.a.32797. PMID 19681128. S2CID 205310929.
Zarnegar, Brian J.; Webster, Dan E.; Lopez-Pajares, Vanessa; Vander Stoep Hunt, Brook; Qu, Kun; Yan, Karen J.; Berk, David R.; Sen, George L.; Khavari, Paul A. (2012). "Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63". The American Journal of Human Genetics. 91 (3): 435–43. doi:10.1016/j.ajhg.2012.07.007. PMC 3511987. PMID 22922031.
Chan, I.; McGrath, J. A.; Kivirikko, S. (2005). "Rapp–Hodgkin syndrome and the tail of p63". Clinical and Experimental Dermatology. 30 (2): 183–6. doi:10.1111/j.1365-2230.2004.01715.x. PMID 15725251. S2CID 43530434.
Koster, Maranke I; Roop, Dennis R. (2004). "The role of p63 in development and differentiation of the epidermis". Journal of Dermatological Science. 34 (1): 3–9. doi:10.1016/j.jdermsci.2003.10.003. PMID 14757276.
van Bokhoven, Hans; Brunner, Han G. (2002). "Splitting p63". The American Journal of Human Genetics. 71 (1): 1–13. doi:10.1086/341450. PMC 384966. PMID 12037717.
Birnbaum, Ramon Y; Zvulunov, Alex; Hallel-Halevy, Dafna; Cagnano, Emanuella; Finer, Gal; Ofir, Rivka; Geiger, Dan; Silberstein, Eldad; Feferman, Yael; Birk, Ohad S (2006). "Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein". Nature Genetics. 38 (7): 749–51. doi:10.1038/ng1813. PMID 16751772. S2CID 1033959.
Yang, Chi-Fan; Hwu, Wuh-Liang; Yang, Li-Cheng; Chung, Wen-Hung; Chien, Yin-Hsiu; Hung, Chia-Fu; Chen, Hung-Chih; Tsai, Pei-Joung; Fann, Cathy S J; Liao, Fang; Chen, Yuan-Tsong (2008). "A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis". Journal of Investigative Dermatology. 128 (7): 1662–8. doi:10.1038/jid.2008.1. PMID 18256691.
Seiberg, M.; Paine, C.; Sharlow, E.; Andrade-Gordon, P.; Costanzo, M.; Eisinger, M.; Shapiro, S.S. (2000). "The Protease-Activated Receptor 2 Regulates Pigmentation via Keratinocyte-Melanocyte Interactions". Experimental Cell Research. 254 (1): 25–32. doi:10.1006/excr.1999.4692. PMID 10623462.
Motil, Kathleen J.; Fete, Timothy J. (2009). "Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome". American Journal of Medical Genetics Part A. 149A (9): 1922–5. doi:10.1002/ajmg.a.32789. PMID 19676058. S2CID 22501525.
Koster, Maranke I.; Marinari, Barbara; Payne, Aimee S.; Kantaputra, Piranit N.; Costanzo, Antonio; Roop, Dennis R. (2009). "ΔNp63 knockdown mice: A mouse model for AEC syndrome". American Journal of Medical Genetics Part A. 149A (9): 1942–7. doi:10.1002/ajmg.a.32794. PMC 2753548. PMID 19681108.
Hay, R.J.; Wells, R.S. (1976). "The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition". British Journal of Dermatology. 94 (3): 277–89. doi:10.1111/j.1365-2133.1976.tb04384.x. PMID 946410. S2CID 29335053.

ncbi.nlm.nih.gov

Nagaveni, NB; Umashankara, KV (2011). "Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder". Indian Journal of Human Genetics. 17 (3): 245–6. doi:10.4103/0971-6866.92084. PMC 3277001. PMID 22346004.
Brunner, H G; Hamel, B C J; van Bokhoven, H (2002). "The p63 gene in EEC and other syndromes". Journal of Medical Genetics. 39 (6): 377–81. doi:10.1136/jmg.39.6.377. PMC 1735150. PMID 12070241.
Zarnegar, Brian J.; Webster, Dan E.; Lopez-Pajares, Vanessa; Vander Stoep Hunt, Brook; Qu, Kun; Yan, Karen J.; Berk, David R.; Sen, George L.; Khavari, Paul A. (2012). "Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63". The American Journal of Human Genetics. 91 (3): 435–43. doi:10.1016/j.ajhg.2012.07.007. PMC 3511987. PMID 22922031.
van Bokhoven, Hans; Brunner, Han G. (2002). "Splitting p63". The American Journal of Human Genetics. 71 (1): 1–13. doi:10.1086/341450. PMC 384966. PMID 12037717.
Koster, Maranke I.; Marinari, Barbara; Payne, Aimee S.; Kantaputra, Piranit N.; Costanzo, Antonio; Roop, Dennis R. (2009). "ΔNp63 knockdown mice: A mouse model for AEC syndrome". American Journal of Medical Genetics Part A. 149A (9): 1942–7. doi:10.1002/ajmg.a.32794. PMC 2753548. PMID 19681108.

omim.org

Online Mendelian Inheritance in Man (OMIM): 106260

semanticscholar.org

api.semanticscholar.org

Rinne, Tuula; Bolat, Emine; Meijer, Rowdy; Scheffer, Hans; van Bokhoven, Hans (2009). "Spectrum ofp63mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)". American Journal of Medical Genetics Part A. 149A (9): 1948–51. doi:10.1002/ajmg.a.32793. PMID 19676060. S2CID 8094555.
Senoo, Makoto; Pinto, Filipa; Crum, Christopher P.; McKeon, Frank (2007). "p63 Is Essential for the Proliferative Potential of Stem Cells in Stratified Epithelia". Cell. 129 (3): 523–36. doi:10.1016/j.cell.2007.02.045. PMID 17482546. S2CID 12973449.
Julapalli, Meena R.; Scher, Richard K.; Sybert, Virginia P.; Siegfried, Elaine C.; Bree, Alanna F. (2009). "Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome". American Journal of Medical Genetics Part A. 149A (9): 1900–6. doi:10.1002/ajmg.a.32797. PMID 19681128. S2CID 205310929.
Chan, I.; McGrath, J. A.; Kivirikko, S. (2005). "Rapp–Hodgkin syndrome and the tail of p63". Clinical and Experimental Dermatology. 30 (2): 183–6. doi:10.1111/j.1365-2230.2004.01715.x. PMID 15725251. S2CID 43530434.
Birnbaum, Ramon Y; Zvulunov, Alex; Hallel-Halevy, Dafna; Cagnano, Emanuella; Finer, Gal; Ofir, Rivka; Geiger, Dan; Silberstein, Eldad; Feferman, Yael; Birk, Ohad S (2006). "Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein". Nature Genetics. 38 (7): 749–51. doi:10.1038/ng1813. PMID 16751772. S2CID 1033959.
Motil, Kathleen J.; Fete, Timothy J. (2009). "Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome". American Journal of Medical Genetics Part A. 149A (9): 1922–5. doi:10.1002/ajmg.a.32789. PMID 19676058. S2CID 22501525.
Hay, R.J.; Wells, R.S. (1976). "The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition". British Journal of Dermatology. 94 (3): 277–89. doi:10.1111/j.1365-2133.1976.tb04384.x. PMID 946410. S2CID 29335053.