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Hajdu-Cheney syndrome and syringomyelia. Case report.
Faure A, David A, Moussally F, Khalfallah M, Jacquemont S, Hamel O, Conti M, Hamel A, Raoul S, Robert R. Faure A, et al. Among authors: david a. J Neurosurg. 2002 Dec;97(6):1441-6. doi: 10.3171/jns.2002.97.6.1441. J Neurosurg. 2002. PMID: 12507146 Review.
High risk of malignancy in mosaic variegated aneuploidy syndrome.
Jacquemont S, Bocéno M, Rival JM, Méchinaud F, David A. Jacquemont S, et al. Among authors: david a. Am J Med Genet. 2002 Apr 15;109(1):17-21; discussion 16. doi: 10.1002/ajmg.10281. Am J Med Genet. 2002. PMID: 11932988 Review.
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course.
Isidor B, Hamel A, Plasschaert F, Claus L, Mercier JM, Mortier GR, Leroy JG, Verloes A, David A. Isidor B, et al. Among authors: david a. Am J Med Genet A. 2009 Oct;149A(10):2220-5. doi: 10.1002/ajmg.a.32926. Am J Med Genet A. 2009. PMID: 19725128
In this article, we report on the follow-up of some of the original cases and review the literature. We confirm that the Verloes-David-Pfeiffer syndrome (VDPS) is a progressive skeletal disorder that despite repeated corrective surgical intervention leads to severe …
In this article, we report on the follow-up of some of the original cases and review the literature. We confirm that the Verloes-David …
Inherited ring chromosome 8 without loss of subtelomeric sequences.
Le Caignec C, Boceno M, Jacquemont S, Nguyen The Tich S, Rival JM, David A. Le Caignec C, et al. Among authors: david a. Ann Genet. 2004 Jul-Sep;47(3):289-96. doi: 10.1016/j.anngen.2003.10.005. Ann Genet. 2004. PMID: 15337475 Review.
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.
Isidor B, Pichon O, Redon R, Day-Salvatore D, Hamel A, Siwicka KA, Bitner-Glindzicz M, Heymann D, Kjellén L, Kraus C, Leroy JG, Mortier GR, Rauch A, Verloes A, David A, Le Caignec C. Isidor B, et al. Among authors: david a. Am J Hum Genet. 2010 Jul 9;87(1):95-100. doi: 10.1016/j.ajhg.2010.05.012. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602915 Free PMC article.
Mesomelia-synostoses syndrome (MSS) or mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type is a rare autosomal-dominant disorder characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations. ...Codeletion of S …
Mesomelia-synostoses syndrome (MSS) or mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type is a rare autosom …
3,396 results