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Items: 1 to 20 of 95

1.

Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.

Khan TN, Klar J, Ali Z, Khan F, Baig SM, Dahl N.

Eur J Med Genet. 2013 Jul;56(7):371-4. doi: 10.1016/j.ejmg.2013.04.007. Epub 2013 May 7.

PMID:
23664847
2.

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.

Lindy AS, Bupp CP, McGee SJ, Steed E, Stevenson RE, Basehore MJ, Friez MJ.

Am J Med Genet A. 2014 Sep;164A(9):2391-7. doi: 10.1002/ajmg.a.36647. Epub 2014 Jun 12.

PMID:
24924585
3.

Severe Cenani-Lenz syndrome caused by loss of LRP4 function.

Kariminejad A, Stollfuß B, Li Y, Bögershausen N, Boss K, Hennekam RC, Wollnik B.

Am J Med Genet A. 2013 Jun;161A(6):1475-9. doi: 10.1002/ajmg.a.35920. Epub 2013 May 1.

PMID:
23636941
4.

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R.

Eur J Med Genet. 2017 Aug;60(8):421-425. doi: 10.1016/j.ejmg.2017.05.004. Epub 2017 May 27.

PMID:
28559208
5.

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.

Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8.

6.

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

Patel N, Faqeih E, Anazi S, Alfawareh M, Wakil SM, Colak D, Alkuraya FS.

J Med Genet. 2015 May;52(5):317-21. doi: 10.1136/jmedgenet-2014-102850. Epub 2015 Feb 12.

PMID:
25676610
7.

Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4).

Drögemüller C, Leeb T, Harlizius B, Tammen I, Distl O, Höltershinken M, Gentile A, Duchesne A, Eggen A.

BMC Genet. 2007 Feb 23;8:5.

8.

Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome.

Elliott AM, Reed MH, Evans JA, Cross HG, Chudley AE.

Clin Dysmorphol. 2004 Jul;13(3):143-50.

PMID:
15194949
9.

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

Fijalkowski I, Geets E, Steenackers E, Van Hoof V, Ramos FJ, Mortier G, Fortuna AM, Van Hul W, Boudin E.

J Bone Miner Res. 2016 Apr;31(4):874-81. doi: 10.1002/jbmr.2782. Epub 2016 Jan 24.

10.

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.

Dimitrov BI, Voet T, De Smet L, Vermeesch JR, Devriendt K, Fryns JP, Debeer P.

J Med Genet. 2010 Aug;47(8):569-74. doi: 10.1136/jmg.2009.073833. Epub 2010 Jul 7.

PMID:
20610440
11.

Present nosology of the Cenani-Lenz type of syndactyly.

Pfeiffer RA, Meisel-Stosiek M.

Clin Genet. 1982 Jan;21(1):74-9.

PMID:
6279340
12.

Cenani-Lenz syndrome-like limb anomaly with more severe involvement of left side.

Ahmed S, Al-Aama JY.

BMJ Case Rep. 2012 Jul 13;2012. pii: bcr0120125634. doi: 10.1136/bcr.01.2012.5634.

13.

Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome.

Temtamy SA, Ismail S, Nemat A.

Clin Dysmorphol. 2003 Apr;12(2):77-83.

PMID:
12868467
14.

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

Jamsheer A, Sowińska-Seidler A, Socha M, Stembalska A, Kiraly-Borri C, Latos-Bieleńska A.

Gene. 2014 Apr 10;539(1):157-61. doi: 10.1016/j.gene.2014.01.066. Epub 2014 Feb 6.

PMID:
24508941
15.

Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattle.

Duchesne A, Gautier M, Chadi S, Grohs C, Floriot S, Gallard Y, Caste G, Ducos A, Eggen A.

Genomics. 2006 Nov;88(5):610-21. Epub 2006 Jul 21.

16.

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.

Khan S, Basit S, Zimri FK, Ali N, Ali G, Ansar M, Ahmad W.

Clin Genet. 2012 Jul;82(1):48-55. doi: 10.1111/j.1399-0004.2011.01698.x. Epub 2011 May 27.

PMID:
21554266
17.

Complex toe syndactyly with characteristic facial phenotype: a new syndrome?

Sobreira NL, Cernach MC, Brunoni D, Perez AB.

Am J Med Genet A. 2008 Jul 1;146A(13):1725-8. doi: 10.1002/ajmg.a.32377.

PMID:
18512233
18.

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H.

Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63. doi: 10.1073/pnas.0908457107. Epub 2009 Dec 14.

19.

Cenani-Lenz syndrome in father and daughter.

De Smet L, De Beer P, Fryns JP.

Genet Couns. 1996;7(2):153-7.

PMID:
8831136
20.

Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN.

Bacchelli C, Goodman FR, Scambler PJ, Winter RM.

Clin Genet. 2001 Mar;59(3):203-5. No abstract available.

PMID:
11260233

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