Faivre L - Search Results

1

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B. Legendre M, et al. Among authors: faivre l. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):417-430. doi: 10.1002/ajmg.c.31591. Epub 2017 Nov 27. Am J Med Genet C Semin Med Genet. 2017. PMID: 29178447

2

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. J Med Genet. 1999 Feb;36(2):131-6. J Med Genet. 1999. PMID: 10051012 Free PMC article.

3

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.

Faivre L, Viot G, Prieur M, Turleau C, Gosset P, Romana S, Munnich A, Vekemans M, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2000 Apr 10;91(4):273-6. Am J Med Genet. 2000. PMID: 10766982

4

Improvement of cystic fibrosis using antitumoral drugs: a hypothesis.

Faivre L, Bonnefont JP, Lyonnet S, Munnich A, Vekemans M. Faivre L, et al. Med Hypotheses. 2000 Apr;54(4):580-1. doi: 10.1054/mehy.1999.0899. Med Hypotheses. 2000. PMID: 10859642

5

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Faivre L, Prieur AM, Le Merrer M, Hayem F, Penet C, Woo P, Hofer M, Dagoneau N, Sermet I, Munnich A, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2000 Nov 27;95(3):233-6. doi: 10.1002/1096-8628(20001127)95:3<233::aid-ajmg9>3.0.co;2-3. Am J Med Genet. 2000. PMID: 11102929

6

Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.

Amiel J, Faivre L, Marianowskl R, Bonnet D, Couly G, Manach Y, Le Merrer M, Cormier-Daire V, Munnich A, Lyonnet S. Amiel J, et al. Among authors: faivre l. Clin Dysmorphol. 2001 Jan;10(1):15-8. doi: 10.1097/00019605-200101000-00003. Clin Dysmorphol. 2001. PMID: 11152141 Review.

7

Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.

Faivre L, Nivelon-Chevallier A, Kottler ML, Robinet C, Khau Van Kien P, Lorcerie B, Munnich A, Maroteaux P, Cormier-Daire V, LeMerrer M. Faivre L, et al. Am J Med Genet. 2001 Mar 1;99(2):132-6. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1135>3.0.co;2-a. Am J Med Genet. 2001. PMID: 11241472 Review.

8

No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients.

Faivre L, Vekemans M, Sanlaville D, Munnich A, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2001 Mar 1;99(2):166-7. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1140>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11241482 No abstract available.

9

A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia.

Faivre L, Cormier-Daire V, Geneviève D, Pinto G, Goulet O, Munnich A, Maroteaux P, Le Merrer M. Faivre L, et al. Clin Dysmorphol. 2001 Jul;10(3):181-4. doi: 10.1097/00019605-200107000-00005. Clin Dysmorphol. 2001. PMID: 11446410

10

Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report.

Holder-Espinasse M, de Blois MC, Faivre L, Romana S, Uteza Y, Munnich A, Lyonnet S, Cormier-Daire V, Amiel J. Holder-Espinasse M, et al. Among authors: faivre l. Clin Dysmorphol. 2001 Oct;10(4):253-5. doi: 10.1097/00019605-200110000-00003. Clin Dysmorphol. 2001. PMID: 11665998

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