Literature DB >> 12624139

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

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

Abstract

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Year:  2003        PMID： 12624139      PMCID： PMC1735387          DOI： 10.1136/jmg.40.3.195

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

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

Authors:  Ali Al Kaissi; Farid Ben Chehida; Maher Ben Ghachem; Franz Grill; Klaus Klaushofer
Journal:  Skeletal Radiol       Date:  2008-12-03       Impact factor: 2.199

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

Authors:  Bing Li; Deborah Krakow; Deborah A Nickerson; Michael J Bamshad; Yong Chang; Ralph S Lachman; Alev Yilmaz; Hülya Kayserili; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2014-06-20       Impact factor: 2.802

3.  A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

Authors:  Hane Lee; Lisette Nevarez; Ralph S Lachman; William R Wilcox; Deborah Krakow; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2015-05-22       Impact factor: 2.802

Review 4.  INPPL1 gene mutations in opsismodysplasia.

Authors:  Anaïs Fradet; Jamie Fitzgerald
Journal:  J Hum Genet       Date:  2016-10-06       Impact factor: 3.172

5.  Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Authors:  Céline Huber; Eissa Ali Faqeih; Deborah Bartholdi; Christine Bole-Feysot; Zvi Borochowitz; Denise P Cavalcanti; Amandine Frigo; Patrick Nitschke; Joelle Roume; Heloísa G Santos; Stavit A Shalev; Andrea Superti-Furga; Anne-Lise Delezoide; Martine Le Merrer; Arnold Munnich; Valérie Cormier-Daire
Journal:  Am J Hum Genet       Date:  2012-12-27       Impact factor: 11.025

6.  Opsismodysplasia.

Authors:  Leslie Edward S Lewis; Y Ramesh Bhat; Prashant Naik; Kanchan Sethi; K M Girisha
Journal:  Indian J Pediatr       Date:  2010-03-19       Impact factor: 1.967

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

Authors:  Jennifer E Below; Dawn L Earl; Kathryn M Shively; Margaret J McMillin; Joshua D Smith; Emily H Turner; Mark J Stephan; Lihadh I Al-Gazali; Jozef L Hertecant; David Chitayat; Sheila Unger; Daniel H Cohn; Deborah Krakow; James M Swanson; Elaine M Faustman; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2012-12-27       Impact factor: 11.025

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

Authors:  Cori Feist; Paul Holden; Jamie Fitzgerald
Journal:  Clin Dysmorphol       Date:  2016-10       Impact factor: 0.816

Review 9.  The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.

Authors:  Àngels Garcia-Cazorla; Fanny Mochel; Foudil Lamari; Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2014-11-21       Impact factor: 4.982

10.  Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.

Authors:  Iman Sabri Abumansour; Radiah Mahmoud Iskandarani; Alaa Edrees; Farrukh Javed; Fadwah Taher; Ghaidaa Farouk Hakeem
Journal:  Clin Case Rep       Date:  2021-05-28
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