Faivre L - Search Results

1

Should chromosome breakage studies be performed in patients with VACTERL association?

Faivre L, Portnoï MF, Pals G, Stoppa-Lyonnet D, Le Merrer M, Thauvin-Robinet C, Huet F, Mathew CG, Joenje H, Verloes A, Baumann C. Faivre L, et al. Am J Med Genet A. 2005 Aug 15;137(1):55-8. doi: 10.1002/ajmg.a.30853. Am J Med Genet A. 2005. PMID: 16015582 Review.

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

Can Hutchinson-Gilford progeria syndrome be a neonatal condition?

Faivre L, Khau Van Kien P, Madinier-Chappat N, Nivelon-Chevallier A, Beer F, LeMerrer M. Faivre L, et al. Am J Med Genet. 1999 Dec 22;87(5):450-2; author reply 453-4. doi: 10.1002/(sici)1096-8628(19991222)87:5<450::aid-ajmg16>3.0.co;2-t. Am J Med Genet. 1999. PMID: 10594888 No abstract available.

4

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.

Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. J Med Genet. 2000 Jan;37(1):52-4. doi: 10.1136/jmg.37.1.52. J Med Genet. 2000. PMID: 10633136 Free PMC article.

5

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

6

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

7

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.

8

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.

9

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly.

Thauvin-Robinet C, Rousseau T, Durand C, Laurent N, Maingueneau C, Faivre L, Sagot P, Nivelon-Chevallier A. Thauvin-Robinet C, et al. Among authors: faivre l. Prenat Diagn. 2001 Jun;21(6):466-70. doi: 10.1002/pd.92. Prenat Diagn. 2001. PMID: 11438951

10

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

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