These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

123 related articles for article (PubMed ID: 23664847)

  • 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. PubMed ID: 23664847
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 28559208
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.
    Steel E; Hurst JA; Cullup T; Calder A; Sivakumar B; Shah P; Wilson LC
    Clin Dysmorphol; 2020 Apr; 29(2):73-80. PubMed ID: 31895055
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 24924585
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family.
    Alrayes N; Aziz A; Ullah F; Ishfaq M; Jelani M; Wali A
    J Gene Med; 2020 Jan; 22(1):e3143. PubMed ID: 31750994
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
    Khan H; Chong AEQ; Bilal M; Nawaz S; Abdullah ; Abbasi S; Hussain A; Hussain S; Ullah I; Ali H; Xue S; Ahmad W
    J Hum Genet; 2022 May; 67(5):253-259. PubMed ID: 34857885
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 86(5):696-706. PubMed ID: 20381006
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 23636941
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.
    Hettiaracchchi D; Bonnard C; Jayawardana SMA; Ng AYJ; Tohari S; Venkatesh B; Reversade B; Singaraja R; Dissanayake VHW
    BMC Med Genet; 2018 Jul; 19(1):125. PubMed ID: 30041615
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.
    Yesodharan D; Krishnan V; Nair IR; Ganapathy A; Mannan AU; Nampoothiri S
    Am J Med Genet A; 2021 Feb; 185(2):620-624. PubMed ID: 33179409
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.
    Fu Y; Zhou Y; Zhang Q; Dong J; Zheng J; Li M; Liu J
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2319. PubMed ID: 38013226
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.
    Al-Qattan MM; Alkuraya FS
    Am J Med Genet A; 2019 Feb; 179(2):266-279. PubMed ID: 30569497
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
    Sukenik Halevy R; Chien HC; Heinz B; Bamshad MJ; Nickerson DA; ; Kircher M; Ahituv N
    Hum Mutat; 2018 Jun; 39(6):811-815. PubMed ID: 29524275
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 25676610
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb development.
    Tian J; Shao J; Liu C; Hou HY; Chou CW; Shboul M; Li GQ; El-Khateeb M; Samarah OQ; Kou Y; Chen YH; Chen MJ; Lyu Z; Chen WL; Chen YF; Sun YH; Liu YW
    Cell Mol Life Sci; 2019 Jan; 76(1):163-178. PubMed ID: 30327840
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 8():5. PubMed ID: 17319939
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 26751728
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 20610440
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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):143-150. PubMed ID: 15194949
    [TBL] [Abstract][Full Text] [Related]  

  • 20. New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
    Masingue M; Cattaneo O; Wolff N; Buon C; Sternberg D; Euchparmakian M; Boex M; Behin A; Mamchaouhi K; Maisonobe T; Nougues MC; Isapof A; Fontaine B; Messéant J; Eymard B; Strochlic L; Bauché S
    Sci Rep; 2023 Aug; 13(1):14054. PubMed ID: 37640745
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.