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Items: 1 to 20 of 22

1.

Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.

Ghosh S, Huber C, Siour Q, Sousa SB, Wright M, Cormier-Daire V, Erneux C.

Hum Mutat. 2017 Dec;38(12):1731-1739. doi: 10.1002/humu.23321. Epub 2017 Sep 21.

PMID:
28869677
2.

SHIP2: Structure, Function and Inhibition.

Thomas MP, Erneux C, Potter BV.

Chembiochem. 2017 Feb 1;18(3):233-247. doi: 10.1002/cbic.201600541. Epub 2017 Jan 10. Review.

PMID:
27907247
3.

INPPL1 gene mutations in opsismodysplasia.

Fradet A, Fitzgerald J.

J Hum Genet. 2017 Feb;62(2):135-140. doi: 10.1038/jhg.2016.119. Epub 2016 Oct 6. Review.

4.

Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia.

Feist C, Holden P, Fitzgerald J.

Clin Dysmorphol. 2016 Oct;25(4):152-5. doi: 10.1097/MCD.0000000000000136.

5.

Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy.

Khwaja A, Parnell SE, Ness K, Bompadre V, White KK.

Front Pediatr. 2015 Jun 22;3:48. doi: 10.3389/fped.2015.00048. eCollection 2015.

6.

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Li B, Krakow D, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Chang Y, Lachman RS, Yilmaz A, Kayserili H, Cohn DH.

Am J Med Genet A. 2014 Sep;164A(9):2407-11. doi: 10.1002/ajmg.a.36640. Epub 2014 Jun 20. No abstract available.

7.

SHIP2 signaling in normal and pathological situations: Its impact on cell proliferation.

Elong Edimo W, Schurmans S, Roger PP, Erneux C.

Adv Biol Regul. 2014 Jan;54:142-51. doi: 10.1016/j.jbior.2013.09.002. Epub 2013 Sep 15. Review.

PMID:
24091101
8.

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.

Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S.

J Hum Genet. 2013 Jun;58(6):391-4. doi: 10.1038/jhg.2013.25. Epub 2013 Apr 4.

PMID:
23552673
9.

Opsismodysplasia: implications of mutations in the developmental gene INPPL1.

Chai EC, Singaraja RR.

Clin Genet. 2013 Jun;83(6):527-9. doi: 10.1111/cge.12136. Epub 2013 Mar 24. No abstract available.

PMID:
23464704
10.

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, Cavalcanti DP, Frigo A, Nitschke P, Roume J, Santos HG, Shalev SA, Superti-Furga A, Delezoide AL, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2013 Jan 10;92(1):144-9. doi: 10.1016/j.ajhg.2012.11.015. Epub 2012 Dec 27.

11.

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics.

Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011. Epub 2012 Dec 27.

12.

Opsismodysplasia.

Lewis LE, Ramesh Bhat Y, Naik P, Sethi K, Girisha KM.

Indian J Pediatr. 2010 May;77(5):567-8. doi: 10.1007/s12098-010-0043-z. Epub 2010 Mar 19.

PMID:
20422326
13.

Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia.

Al Kaissi A, Chehida FB, Ghachem MB, Grill F, Klaushofer K.

Skeletal Radiol. 2009 Mar;38(3):293-6. doi: 10.1007/s00256-008-0623-4. Epub 2008 Dec 3.

PMID:
19050869
14.

Hypophosphatemic rickets in opsismodysplasia.

Zeger MD, Adkins D, Fordham LA, White KE, Schoenau E, Rauch F, Loechner KJ.

J Pediatr Endocrinol Metab. 2007 Jan;20(1):79-86.

PMID:
17315533
15.

A further case of opsismodysplasia with hydrocephalus.

Ramos FJ, González JP, Cortabarria C, Domenech E, Pérez-González J, Bueno M.

Eur J Med Genet. 2006 Jan-Feb;49(1):93-100.

PMID:
16473316
16.

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases.

Cormier-Daire V, Delezoide AL, Philip N, Marcorelles P, Casas K, Hillion Y, Faivre L, Rimoin DL, Munnich A, Maroteaux P, Le Merrer M.

J Med Genet. 2003 Mar;40(3):195-200. No abstract available.

17.

[Opsismodysplasia].

Numabe H.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):380-1. Review. Japanese. No abstract available.

PMID:
11528795
18.

Five familial cases of opsismodysplasia substantiate the hypothesis of autosomal recessive inheritance.

Tyler K, Sarioglu N, Kunze J.

Am J Med Genet. 1999 Mar 5;83(1):47-52.

PMID:
10076884
19.

Opsismodysplasia: a case report.

Zeman J, Baxova A, Houstkova H, Kozlowski K.

Australas Radiol. 1997 Feb;41(1):35-7.

PMID:
9125065
20.

Opsismodysplasia: another case and literature review.

Santos HG, Saraiva JM.

Clin Dysmorphol. 1995 Jul;4(3):222-6. Review. No abstract available.

PMID:
7551158

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