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349 results

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Page 1
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.
Pinson L, Augé J, Audollent S, Mattéi G, Etchevers H, Gigarel N, Razavi F, Lacombe D, Odent S, Le Merrer M, Amiel J, Munnich A, Meroni G, Lyonnet S, Vekemans M, Attié-Bitach T. Pinson L, et al. Among authors: le merrer m. J Med Genet. 2004 May;41(5):381-6. doi: 10.1136/jmg.2003.014829. J Med Genet. 2004. PMID: 15121778 Free PMC article. No abstract available.
Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.
Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, Munnich A. Cormier-Daire V, et al. Among authors: le merrer m. Am J Med Genet. 1997 Mar 17;69(2):166-8. doi: 10.1002/(sici)1096-8628(19970317)69:2<166::aid-ajmg9>3.0.co;2-n. Am J Med Genet. 1997. PMID: 9056554
A new lethal syndrome of exomphalos, short limbs, and macrogonadism.
Faivre L, Delezoide AL, Narcy F, Razavi F, Bouvier R, Cormier-Daire V, Briard ML, Lyonnet S, Vekemans M, Munnich A, Le Merrer M. Faivre L, et al. Among authors: le merrer m. J Med Genet. 1999 Feb;36(2):131-6. J Med Genet. 1999. PMID: 10051012 Free PMC article.
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. Rio M, et al. Among authors: le merrer m. J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436. J Med Genet. 2003. PMID: 12807965 Free PMC article.
CHARGE syndrome: report of 47 cases and review.
Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S. Tellier AL, et al. Am J Med Genet. 1998 Apr 13;76(5):402-9. doi: 10.1002/(sici)1096-8628(19980413)76:5<402::aid-ajmg7>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9556299 Review.
Sulphate transporter gene mutations in apparently isolated club foot.
Huber C, Odent S, Rumeur S, Padovani P, Penet C, Cormier-Daire V, Munnich A, Le Merrer M. Huber C, et al. Among authors: le merrer m. J Med Genet. 2001 Mar;38(3):191-3. doi: 10.1136/jmg.38.3.191. J Med Genet. 2001. PMID: 11303514 Free PMC article. No abstract available.
349 results