Faivre L - Search Results

1

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.

Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, Molven A, Dijoud F, Munnich A, Faivre L, Amiel J, Harley V, Houge G, Morel Y, Lyonnet S. Benko S, et al. Among authors: faivre l. J Med Genet. 2011 Dec;48(12):825-30. doi: 10.1136/jmedgenet-2011-100255. Epub 2011 Nov 2. J Med Genet. 2011. PMID: 22051515

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

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.

4

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

5

Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q.

Faivre L, Radford I, Viot G, Edery P, Munnich A, Tardieu M, Vekemans M. Faivre L, et al. Ann Genet. 2000 Jan-Mar;43(1):35-8. doi: 10.1016/s0003-3995(00)00016-2. Ann Genet. 2000. PMID: 10818219

6

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

7

Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.

Faivre L, Cormier-Daire V, Chrétien D, Christoph von Kleist-Retzow J, Amiel J, Dommergues M, Saudubray JM, Dumez Y, Rötig A, Rustin P, Munnich A. Faivre L, et al. Prenat Diagn. 2000 Sep;20(9):732-7. doi: 10.1002/1097-0223(200009)20:9<732::aid-pd916>3.0.co;2-#. Prenat Diagn. 2000. PMID: 11015702

8

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

9

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.

10

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.

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