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Items: 18

1.

A case study of atypical Larsen syndrome with absent hallmark joint dislocations.

Kodra N, Diamonstein C, Hauser NS.

Mol Genet Genomic Med. 2019 May;7(5):e648. doi: 10.1002/mgg3.648. Epub 2019 Mar 27.

2.

FEVR findings in patients with Loeys-Dietz syndrome type II.

Solinski MA, Blair MP, Dietz H, Mittelman D, Shapiro MJ.

Ophthalmic Genet. 2018 Dec;39(6):754-758. doi: 10.1080/13816810.2018.1532526. Epub 2018 Nov 8.

PMID:
30406707
3.

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B.

BMC Med Genet. 2018 Aug 31;19(1):155. doi: 10.1186/s12881-018-0671-0.

4.

Congenital dislocation of the knee in a three-year-old-child with Larsen syndrome: Treatment with a hexapod-type external fixator.

Klein C, Bulaid Y, Deroussen F, Plancq MC, Printemps C, Gouron R.

Knee. 2018 Oct;25(5):966-971. doi: 10.1016/j.knee.2018.07.006. Epub 2018 Aug 12.

PMID:
30111500
5.

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Salian S, Shukla A, Shah H, Bhat SN, Bhat VR, Nampoothiri S, Shenoy R, Phadke SR, Hariharan SV, Girisha KM.

Clin Genet. 2018 Jul;94(1):159-164. doi: 10.1111/cge.13252. Epub 2018 Apr 14.

PMID:
29566257
6.

Otologic manifestations of Larsen syndrome.

Marques LHS, Martins DV, Juares GL, Lorenzetti FTM, Monsanto RDC.

Int J Pediatr Otorhinolaryngol. 2017 Oct;101:223-229. doi: 10.1016/j.ijporl.2017.08.020. Epub 2017 Aug 22. Review.

PMID:
28964299
7.

Filamin B: The next hotspot in skeletal research?

Xu Q, Wu N, Cui L, Wu Z, Qiu G.

J Genet Genomics. 2017 Jul 20;44(7):335-342. doi: 10.1016/j.jgg.2017.04.007. Epub 2017 Jul 6. Review.

PMID:
28739045
8.

Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing.

Seppälä J, Bernardi RC, Haataja TJK, Hellman M, Pentikäinen OT, Schulten K, Permi P, Ylänne J, Pentikäinen U.

Sci Rep. 2017 Jun 26;7(1):4218. doi: 10.1038/s41598-017-04441-x.

9.

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

Bernkopf M, Hunt D, Koelling N, Morgan T, Collins AL, Fairhurst J, Robertson SP, Douglas AGL, Goriely A.

Hum Mutat. 2017 Oct;38(10):1360-1364. doi: 10.1002/humu.23281. Epub 2017 Jul 6.

10.

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

Patel N, Shamseldin HE, Sakati N, Khan AO, Softa A, Al-Fadhli FM, Hashem M, Abdulwahab FM, Alshidi T, Alomar R, Alobeid E, Wakil SM, Colak D, Alkuraya FS.

Am J Hum Genet. 2017 May 4;100(5):831-836. doi: 10.1016/j.ajhg.2017.04.008.

11.

Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach.

P S, D KT, Tanwar H, R S, C GPD, Zayed H.

J Cell Biochem. 2017 Jul;118(7):1900-1910. doi: 10.1002/jcb.25920. Epub 2017 Mar 27.

PMID:
28145583
12.

Spine malformation complex in 3 diverse syndromic entities: Case reports.

Kaissi AA, van Egmond-Fröhlich A, Ryabykh S, Ochirov P, Kenis V, Hofstaetter JG, Grill F, Ganger R, Kircher SG.

Medicine (Baltimore). 2016 Dec;95(50):e5505.

13.

Management of joint dislocations of the lower limb in Larsen syndrome: practical approach.

Matar HE, Garg NK.

Ann R Coll Surg Engl. 2017 Jan;99(1):e8-e10. doi: 10.1308/rcsann.2016.0258. Epub 2016 Aug 9.

14.

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Girisha KM, Bidchol AM, Graul-Neumann L, Gupta A, Hehr U, Lessel D, Nader S, Shah H, Wickert J, Kutsche K.

BMC Med Genet. 2016 Apr 6;17:27. doi: 10.1186/s12881-016-0290-6.

15.

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.

Mizumoto S, Yamada S, Sugahara K.

Biomed Res Int. 2015;2015:861752. doi: 10.1155/2015/861752. Epub 2015 Oct 25. Review.

16.

Anterior mediastinal tracheostomy with a median mandibular splitting approach in a Larsen syndrome patient with posterior cervical arthrodesis.

Yonekura T, Kamiyama M, Kimura K, Morishita Y, Yamauchi K, Ishii T, Yamaguti K, Yokoyama S, Yane K, Ueda Y.

Pediatr Surg Int. 2015 Oct;31(10):1001-4. doi: 10.1007/s00383-015-3783-z. Epub 2015 Aug 19.

PMID:
26285895
17.

Presumed Larsen syndrome in a child: a case with a 12-year follow-up.

Mei H, He R, Liu K, Wu J, Tang J, Yan A.

J Pediatr Orthop B. 2015 May;24(3):268-73. doi: 10.1097/BPB.0000000000000126.

PMID:
25536406
18.

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

Cartault F, Munier P, Jacquemont ML, Vellayoudom J, Doray B, Payet C, Randrianaivo H, Laville JM, Munnich A, Cormier-Daire V.

Eur J Hum Genet. 2015 Jan;23(1):49-53. doi: 10.1038/ejhg.2014.60. Epub 2014 Apr 23.

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