Le Merrer M - Search Results

1

Three new cases of the Schinzel-Giedion syndrome and review of the literature.

Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M. Labrune P, et al. Among authors: le merrer m. Am J Med Genet. 1994 Mar 1;50(1):90-3. doi: 10.1002/ajmg.1320500120. Am J Med Genet. 1994. PMID: 8160760 Review.

2

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

Lyonnet S, Schwartz G, Gatin G, de Prost Y, Munnich A, Le Merrer M. Lyonnet S, et al. Among authors: le merrer m. J Med Genet. 1992 Jan;29(1):68-9. doi: 10.1136/jmg.29.1.68. J Med Genet. 1992. PMID: 1552551 Free PMC article.

3

Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature.

Labrune P, Trioche P, Fallet-Bianco C, Roume J, Narcy F, Le Merrer M. Labrune P, et al. Among authors: le merrer m. Am J Med Genet. 1997 Dec 12;73(2):144-9. Am J Med Genet. 1997. PMID: 9409864 Review.

4

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.

5

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M. Cormier-Daire V, et al. Among authors: le merrer m. J Med Genet. 2000 Jul;37(7):520-4. doi: 10.1136/jmg.37.7.520. J Med Genet. 2000. PMID: 10882755 Free PMC article.

6

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V. Viot G, et al. Among authors: le merrer m. Am J Med Genet. 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. Am J Med Genet. 2002. PMID: 11807859

7

The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

Le Merrer M, Ben Othmane K, Stanescu V, Lyonnet S, Van Maldergem L, Royer G, Munnich A, Maroteaux P. Le Merrer M, et al. J Med Genet. 1992 Oct;29(10):713-5. doi: 10.1136/jmg.29.10.713. J Med Genet. 1992. PMID: 1433231 Free PMC article.

8

Craniofacial anomalies and malformations in respiratory chain deficiency.

Cormier-Daire V, Rustin P, Rötig A, Chrétien D, Le Merrer M, Belli D, Le Goff A, Hubert P, Ricour C, Munnich A. Cormier-Daire V, et al. Among authors: le goff a, le merrer m. Am J Med Genet. 1996 Dec 30;66(4):457-63. doi: 10.1002/(SICI)1096-8628(19961230)66:4<457::AID-AJMG15>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8989468

9

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

10

Increased paternal age in CHARGE association.

Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Among authors: le merrer m. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897

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