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Page 1
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B. Li Y, et al. Among authors: cenani a. Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8. Am J Hum Genet. 2010. PMID: 20381006 Free PMC article.
Cenani-Lenz syndrome (CLS) is an autosomal-recessive congenital disorder affecting distal limb development. ...LRP4 is known to antagonize LRP6-mediated activation of canonical Wnt signaling, a function that is lost by the identified mutations. Our findings increase …
Cenani-Lenz syndrome (CLS) is an autosomal-recessive congenital disorder affecting distal limb development. ...LRP4 is known to antag …
Dermatoglyphics in patients with Cenani-Lenz type syndactyly: studies in a new case.
Elçioglu N, Atasu M, Cenani A. Elçioglu N, et al. Among authors: cenani a. Am J Med Genet. 1997 Jun 27;70(4):341-5. doi: 10.1002/(sici)1096-8628(19970627)70:4<341::aid-ajmg1>3.0.co;2-w. Am J Med Genet. 1997. PMID: 9182770
We describe an additional case of Cenani-Lenz syndactylism in a 4 1/2-year-old boy from a consanguineous Turkish family. ...Although there was no radio-ulnar synostosis or abnormality of the bones of the feet, the findings are comparable to those described in …
We describe an additional case of Cenani-Lenz syndactylism in a 4 1/2-year-old boy from a consanguineous Turkish family …
Anophthalmia-Waardenburg syndrome: a report of three cases.
Suyugül Z, Seven M, Hacihanefioğlu S, Kartal A, Suyugül N, Cenani A. Suyugül Z, et al. Among authors: cenani a. Am J Med Genet. 1996 Apr 24;62(4):391-7. doi: 10.1002/(SICI)1096-8628(19960424)62:4<391::AID-AJMG12>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8723070
Not para-, not peri-, but centric inversion of chromosome 12.
Silahtaroglu AN, Hacihanefioglu S, Güven GS, Cenani A, Wirth J, Tommerup N, Tümer Z. Silahtaroglu AN, et al. Among authors: cenani a. J Med Genet. 1998 Aug;35(8):682-4. doi: 10.1136/jmg.35.8.682. J Med Genet. 1998. PMID: 9719380 Free PMC article.
Picture of the month. Keutel syndrome.
Tüysüz B, Ungür S, Akalin F, Cenani A, Tunnessen WW Jr. Tüysüz B, et al. Among authors: cenani a. Arch Pediatr Adolesc Med. 1999 Jul;153(7):765-6. doi: 10.1001/archpedi.153.7.765. Arch Pediatr Adolesc Med. 1999. PMID: 10401814 No abstract available.
Consanguineous marriages among parents of Down patients.
Başaran N, Cenani A, Sayli BS, Ozkinay C, Artan S, Seven H, Başaran A, Dinçer S. Başaran N, et al. Among authors: cenani a. Clin Genet. 1992 Jul;42(1):13-5. doi: 10.1111/j.1399-0004.1992.tb03127.x. Clin Genet. 1992. PMID: 1387592
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