Cormier-Daire V - Search Results

1

Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G. Venot Q, et al. Nature. 2019 Apr;568(7752):E6. doi: 10.1038/s41586-019-1109-3. Nature. 2019. PMID: 30944482

2

Craniosynostosis and kidney malformation in a case of Hennekam syndrome.

Cormier-Daire V, Lyonnet S, Lehnert A, Martin D, Salomon R, Patey N, Broyer M, Ricour C, Munnich A. Cormier-Daire V, et al. Am J Med Genet. 1995 May 22;57(1):66-8. doi: 10.1002/ajmg.1320570115. Am J Med Genet. 1995. PMID: 7645602

3

Features of DiGeorge syndrome and CHARGE association in five patients.

de Lonlay-Debeney P, Cormier-Daire V, Amiel J, Abadie V, Odent S, Paupe A, Couderc S, Tellier AL, Bonnet D, Prieur M, Vekemans M, Munnich A, Lyonnet S. de Lonlay-Debeney P, et al. J Med Genet. 1997 Dec;34(12):986-9. doi: 10.1136/jmg.34.12.986. J Med Genet. 1997. PMID: 9429139 Free PMC article.

4

Presentation of six cases of Stüve-Wiedemann syndrome.

Cormier-Daire V, Munnich A, Lyonnet S, Rustin P, Delezoide AL, Maroteaux P, Le Merrer M. Cormier-Daire V, et al. Pediatr Radiol. 1998 Oct;28(10):776-80. doi: 10.1007/s002470050464. Pediatr Radiol. 1998. PMID: 9799300

5

Ebstein anomaly associated with rearrangements of chromosomal region 11q.

de Lonlay-Debeney P, de Blois MC, Bonnet D, Amiel J, Abadie V, Picq M, Lyonnet S, Sidi D, Munnich A, Vekemans M, Cormier-Daire V. de Lonlay-Debeney P, et al. Am J Med Genet. 1998 Nov 2;80(2):157-9. doi: 10.1002/(sici)1096-8628(19981102)80:2<157::aid-ajmg12>3.0.co;2-u. Am J Med Genet. 1998. PMID: 9805133

6

Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

Amiel J, Cormier-Daire V, Journeau P, Mussat P, Munnich A, Lyonnet S. Amiel J, et al. J Med Genet. 1999 Jul;36(7):561-4. J Med Genet. 1999. PMID: 10424819 Free PMC article.

7

Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion.

Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F. Baud O, et al. Clin Genet. 1999 Jun;55(6):478-82. doi: 10.1034/j.1399-0004.1999.550614.x. Clin Genet. 1999. PMID: 10450867

8

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. 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.

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. Clin Dysmorphol. 2001 Jan;10(1):15-8. doi: 10.1097/00019605-200101000-00003. Clin Dysmorphol. 2001. PMID: 11152141 Review.

10

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.

Imessaoudene B, Bonnefont JP, Royer G, Cormier-Daire V, Lyonnet S, Lyon G, Munnich A, Amiel J. Imessaoudene B, et al. J Med Genet. 2001 Mar;38(3):171-4. doi: 10.1136/jmg.38.3.171. J Med Genet. 2001. PMID: 11238684 Free PMC article.

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