PubMed for Bookshelf ID: 1472622

Year	Number of Results
1982	1
1996	2
1997	2
1998	2
1999	1
2001	4
2002	1
2003	6
2004	2
2005	1
2006	1
2008	1
2009	1
2010	4
2011	3
2012	1
2017	1
2020	1
2021	1
2023	1
2024	0

1

Complications and Revisions After Spine Surgery in Patients With Skeletal Dysplasia: Have We Improved?

Shafi K, Lovecchio F, Sava M, Steinhaus M, Samuel A, Carter E, Lebl D, Farmer J, Raggio C. Shafi K, et al. Global Spine J. 2023 Mar;13(2):268-275. doi: 10.1177/2192568221994786. Epub 2021 Feb 18. Global Spine J. 2023. PMID: 33596686 Free PMC article.

2

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

3

Parental influence on human germline de novo mutations in 1,548 trios from Iceland.

Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963

4

Hearing loss in skeletal dysplasia patients.

Tunkel D, Alade Y, Kerbavaz R, Smith B, Rose-Hardison D, Hoover-Fong J. Tunkel D, et al. Am J Med Genet A. 2012 Jul;158A(7):1551-5. doi: 10.1002/ajmg.a.35373. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628261

5

Sulfate in fetal development.

Dawson PA. Dawson PA. Semin Cell Dev Biol. 2011 Aug;22(6):653-9. doi: 10.1016/j.semcdb.2011.03.004. Epub 2011 Mar 17. Semin Cell Dev Biol. 2011. PMID: 21419855 Review.

6

Prevention of auricular deformity in children with diastrophic dysplasia.

Cushing SL, Swanson RL, Sie KC. Cushing SL, et al. Int J Pediatr Otorhinolaryngol. 2011 May;75(5):713-5. doi: 10.1016/j.ijporl.2011.02.003. Epub 2011 Mar 17. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21414669

7

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

Barbosa M, Sousa AB, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, Soares G, Fortuna AM, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L. Barbosa M, et al. Clin Genet. 2011 Dec;80(6):550-7. doi: 10.1111/j.1399-0004.2010.01595.x. Epub 2010 Dec 13. Clin Genet. 2011. PMID: 21155763

8

New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.

Czarny-Ratajczak M, Bieganski T, Rogala P, Glowacki M, Trzeciak T, Kozlowski K. Czarny-Ratajczak M, et al. Am J Med Genet A. 2010 Dec;152A(12):3036-42. doi: 10.1002/ajmg.a.33707. Am J Med Genet A. 2010. PMID: 21077204

9

Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

Dwyer E, Hyland J, Modaff P, Pauli RM. Dwyer E, et al. Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. Am J Med Genet A. 2010. PMID: 21077202 Review.

10

Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling.

Gualeni B, Facchini M, De Leonardis F, Tenni R, Cetta G, Viola M, Passi A, Superti-Furga A, Forlino A, Rossi A. Gualeni B, et al. Matrix Biol. 2010 Jul;29(6):453-60. doi: 10.1016/j.matbio.2010.05.001. Epub 2010 May 11. Matrix Biol. 2010. PMID: 20470884

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