Literature DB >> 922134

A unique chondrodysplasia secondary to a defect in chondroosseous transformation.

J Zonana, D L Rimoin, R S Lachman, A H Cohen.   

Abstract

Entities:  

Mesh：

Year:  1977        PMID： 922134

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  10 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

Review 3.  INPPL1 gene mutations in opsismodysplasia.

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

4.  Dwarfism in the Alaskan Malamute: ultrastructural features of dwarf growth plate chondrocytes.

Authors:  S A Bingel; R D Sande; J Newbrey
Journal:  Calcif Tissue Int       Date:  1983       Impact factor: 4.333

5.  The Patterson syndrome, leprechaunism, and pseudoleprechaunism.

Authors:  T J David; B W Webb; I R Gordon
Journal:  J Med Genet       Date:  1981-08       Impact factor: 6.318

6.  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

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.  Genetic Causes of Rickets.

Authors:  Sezer Acar; Korcan Demir; Yufei Shi
Journal:  J Clin Res Pediatr Endocrinol       Date:  2017-12-27

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
  10 in total

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