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Items: 1 to 20 of 118

1.

Next-generation sequencing for disorders of low and high bone mineral density.

Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BH.

Osteoporos Int. 2013 Aug;24(8):2253-9. doi: 10.1007/s00198-013-2290-0. Epub 2013 Feb 27.

2.

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

Symoens S, Steyaert W, Demuynck L, De Paepe A, Diderich KE, Malfait F, Coucke PJ.

Am J Med Genet A. 2017 Apr;173(4):1047-1050. doi: 10.1002/ajmg.a.38135. Epub 2017 Mar 6.

PMID:
28261977
3.

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA, Ferguson D, Cheshire NJ, Kazkaz H, Grahame R, Ghali N, Vandersteen A, Pope FM, Aitman TJ.

Genet Med. 2016 Nov;18(11):1119-1127. doi: 10.1038/gim.2016.14. Epub 2016 Mar 24.

PMID:
27011056
4.

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D.

Am J Med Genet A. 2016 Apr;170A(4):1080-5. doi: 10.1002/ajmg.a.37547. Epub 2016 Jan 22.

PMID:
26799614
5.

Clinical validation of targeted next-generation sequencing for inherited disorders.

Yohe S, Hauge A, Bunjer K, Kemmer T, Bower M, Schomaker M, Onsongo G, Wilson J, Erdmann J, Zhou Y, Deshpande A, Spears MD, Beckman K, Silverstein KA, Thyagarajan B.

Arch Pathol Lab Med. 2015 Feb;139(2):204-10. doi: 10.5858/arpa.2013-0625-OA.

PMID:
25611102
6.

Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.

Wang Y, Cui Y, Zhou X, Han J.

PLoS One. 2015 Mar 5;10(3):e0119553. doi: 10.1371/journal.pone.0119553. eCollection 2015. Erratum in: PLoS One. 2015;10(5):e0127254.

7.

Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.

Bastida JM, Del Rey M, Lozano ML, Sarasquete ME, Benito R, Fontecha ME, Fisac R, García-Frade LJ, Aguilar C, Martínez MP, Pardal E, Aguilera C, Pérez B, Ramos R, Cardesa MR, Martin-Antorán JM, Silvestre LA, Cebeira MJ, Bermejo N, Riesco S, Mendoza MC, García-Sanz R, González-Díaz M, Hernández-Rivas JM, González-Porras JR.

Haemophilia. 2016 Jul;22(4):590-7. doi: 10.1111/hae.12908. Epub 2016 Feb 15.

PMID:
26879396
8.

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Polla DL, Cardoso MT, Silva MC, Cardoso IC, Medina CT, Araujo R, Fernandes CC, Reis AM, de Andrade RV, Pereira RW, Pogue R.

PLoS One. 2015 Sep 18;10(9):e0138314. doi: 10.1371/journal.pone.0138314. eCollection 2015.

9.

Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.

Liu Y, Song L, Ma D, Lv F, Xu X, Wang J, Xia W, Jiang Y, Wang O, Song Y, Xing X, Asan, Li M.

Clin Chim Acta. 2016 Oct 1;461:172-80. doi: 10.1016/j.cca.2016.07.012. Epub 2016 Jul 20.

PMID:
27450065
10.

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JHM, Ainsworth P, Waye JS, Sadikovic B.

J Mol Diagn. 2016 Sep;18(5):657-667. doi: 10.1016/j.jmoldx.2016.04.002. Epub 2016 Jul 2.

PMID:
27376475
11.

Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young.

Szopa M, Ludwig-Gałęzowska A, Radkowski P, Skupień J, Zapała B, Płatek T, Klupa T, Kieć-Wilk B, Borowiec M, Młynarski W, Wołkow P, Małecki MT.

Pol Arch Med Wewn. 2015;125(11):845-51. Epub 2015 Nov 9.

12.

Clinical screening for collagen defects in connective tissue diseases.

Cohn DH, Byers PH.

Clin Perinatol. 1990 Dec;17(4):793-809. Review.

PMID:
2286029
13.

A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach.

Tang W, Qian D, Ahmad S, Mattox D, Todd NW, Han H, Huang S, Li Y, Wang Y, Li H, Lin X.

Genet Test Mol Biomarkers. 2012 Jun;16(6):536-42. doi: 10.1089/gtmb.2011.0187. Epub 2012 Apr 5.

14.

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

Sivakumaran TA, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH Jr, Zhang K.

Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16. doi: 10.1177/0194599813482294. Epub 2013 Mar 22.

PMID:
23525850
15.

Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.

Liu Y, Asan, Ma D, Lv F, Xu X, Wang J, Xia W, Jiang Y, Wang O, Xing X, Yu W, Wang J, Sun J, Song L, Zhu Y, Yang H, Wang J, Li M.

Osteoporos Int. 2017 Oct;28(10):2985-2995. doi: 10.1007/s00198-017-4143-8. Epub 2017 Jul 19.

PMID:
28725987
16.

Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.

Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S, Marini JC.

J Biol Chem. 2005 May 13;280(19):19259-69. Epub 2005 Feb 22.

17.

Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.

Xu XJ, Lv F, Liu Y, Wang JY, Ma DD, Asan, Wang JW, Song LJ, Jiang Y, Wang O, Xia WB, Xing XP, Li M.

J Hum Genet. 2017 Feb;62(2):205-211. doi: 10.1038/jhg.2016.109. Epub 2016 Aug 25.

PMID:
27762305
18.

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.

Lim EC, Brett M, Lai AH, Lee SP, Tan ES, Jamuar SS, Ng IS, Tan EC.

Hum Genomics. 2015 Dec 14;9:33. doi: 10.1186/s40246-015-0055-x.

19.

First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.

Chen F, Guo R, Itoh S, Moreno L, Rosenthal E, Zappitelli T, Zirngibl RA, Flenniken A, Cole W, Grynpas M, Osborne LR, Vogel W, Adamson L, Rossant J, Aubin JE.

J Bone Miner Res. 2014 Jun;29(6):1412-23. doi: 10.1002/jbmr.2177.

20.

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.

Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A.

Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78.

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