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Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Guasto A, Dubail J, Aguilera-Albesa S, Paganini C, Vanhulle C, Haouari W, Gorría-Redondo N, Aznal-Sainz E, Boddaert N, Planas-Serra L, Schlüter A, Vélez-Santamaría V, Verdura E, Bruneel A, Rossi A, Huber C, Pujol A, Cormier-Daire V. Guasto A, et al. Among authors: huber c. Brain. 2022 Oct 21;145(10):3711-3722. doi: 10.1093/brain/awac110. Brain. 2022. PMID: 35325049
[Genetics and the SHOX gene].
Huber C, Cormier-Daire V. Huber C, et al. Arch Pediatr. 2004 Jun;11(6):555-6. doi: 10.1016/j.arcped.2004.03.057. Arch Pediatr. 2004. PMID: 15158831 French. No abstract available.
A new osteogenesis imperfecta with improvement over time maps to 11q.
Kamoun-Goldrat A, Pannier S, Huber C, Finidori G, Munnich A, Cormier-Daire V, Le Merrer M. Kamoun-Goldrat A, et al. Among authors: huber c. Am J Med Genet A. 2008 Jul 15;146A(14):1807-14. doi: 10.1002/ajmg.a.32379. Am J Med Genet A. 2008. PMID: 18553516
Hip dislocation in 3-M syndrome: risk of misdiagnosis.
Badina A, Pejin Z, Odent T, Buzescu A, Huber C, Cormier-Daire V, Glorion C, Pannier S. Badina A, et al. Among authors: huber c. Clin Dysmorphol. 2011 Apr;20(2):114-116. doi: 10.1097/MCD.0b013e328343f958. Clin Dysmorphol. 2011. PMID: 21383554 No abstract available.
The 3M syndrome.
Huber C, Munnich A, Cormier-Daire V. Huber C, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):143-51. doi: 10.1016/j.beem.2010.08.015. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396581
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V. Nizon M, et al. Among authors: huber c. Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22. Hum Mutat. 2012. PMID: 22539336 Free PMC article.
Ciliary disorder of the skeleton.
Huber C, Cormier-Daire V. Huber C, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791528 Review.
1,817 results