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Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.
Guimiot F, Marcorelles P, Aboura A, Bonyhay G, Patrier S, Menez F, Drouin-Garraud V, Icowick V, Eurin D, Garel C, Moirot H, Verspyck E, Saugier-Veber P, Attie-Bitach T, Picone O, Oury JF, Verloes A, Delezoide AL, Laquerrière A. Guimiot F, et al. Among authors: verloes a. Am J Med Genet A. 2009 Jun;149A(6):1108-15. doi: 10.1002/ajmg.a.32859. Am J Med Genet A. 2009. PMID: 19449422
Osteocraniostenosis.
Verloes A, Narcy F, Grattagliano B, Delezoide AL, Guibaud P, Schaaps JP, Le Merrer M, Maroteaux P. Verloes A, et al. J Med Genet. 1994 Oct;31(10):772-8. doi: 10.1136/jmg.31.10.772. J Med Genet. 1994. PMID: 7837254 Free PMC article.
Orofaciodigital syndrome with cerebral dysgenesis.
Lesca G, Fallet-Bianco C, Plauchu H, Vitrey D, Verloes A, Attia-Sobol J. Lesca G, et al. Among authors: verloes a. Am J Med Genet A. 2006 Apr 1;140(7):757-63. doi: 10.1002/ajmg.a.31144. Am J Med Genet A. 2006. PMID: 16502430
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Verloes A, et al. Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. Am J Med Genet A. 2006. PMID: 16700052
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a …
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current noso …
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A. Keren B, et al. Among authors: verloes a. Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. doi: 10.1002/ajmg.a.31784. Am J Med Genet A. 2007. PMID: 17546652 No abstract available.
512 results