Le Caignec C - Search Results

1

Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.

Isidor B, Le Cunff M, Boceno M, Boisseau P, Thomas C, Rival JM, David A, Le Caignec C. Isidor B, et al. Among authors: le cunff m, le caignec c. Eur J Med Genet. 2008 Nov-Dec;51(6):679-84. doi: 10.1016/j.ejmg.2008.06.004. Epub 2008 Jul 11. Eur J Med Genet. 2008. PMID: 18672103

2

46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred.

Le Caignec C, Baron S, McElreavey K, Joubert M, Rival JM, Mechinaud F, David A. Le Caignec C, et al. Am J Med Genet A. 2003 Jan 1;116A(1):37-43. doi: 10.1002/ajmg.a.10820. Am J Med Genet A. 2003. PMID: 12476449

3

Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus.

Le Caignec C, Boceno M, Joubert M, Winer N, Aubron F, Fallet-Bianco C, Rival JM. Le Caignec C, et al. Prenat Diagn. 2003 Feb;23(2):143-5. doi: 10.1002/pd.553. Prenat Diagn. 2003. PMID: 12575022 Review.

4

Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p.

Le Caignec C, Winer N, Boceno M, Delnatte C, Podevin G, Liet JM, Quere MP, Joubert M, Rival JM. Le Caignec C, et al. Prenat Diagn. 2003 Dec 15;23(12):981-4. doi: 10.1002/pd.742. Prenat Diagn. 2003. PMID: 14663834 Review.

5

Prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation.

Winer N, Le Caignec C, Quere MP, David A, Boceno M, Aubron F, Joubert M, Boog G, Philippe HJ, Rival JM. Winer N, et al. Among authors: le caignec c. Ultrasound Obstet Gynecol. 2003 Dec;22(6):648-51. doi: 10.1002/uog.916. Ultrasound Obstet Gynecol. 2003. PMID: 14689542 Free article.

6

Sonographic findings in Beckwith-Wiedemann syndrome related to H19 hypermethylation.

Le Caignec C, Gicquel C, Gubler MC, Guyot C, You MC, Laurent A, Joubert M, Winer N, David A, Rival JM. Le Caignec C, et al. Prenat Diagn. 2004 Mar;24(3):165-8. doi: 10.1002/pd.818. Prenat Diagn. 2004. PMID: 15057946

7

Inherited ring chromosome 8 without loss of subtelomeric sequences.

Le Caignec C, Boceno M, Jacquemont S, Nguyen The Tich S, Rival JM, David A. Le Caignec C, et al. Ann Genet. 2004 Jul-Sep;47(3):289-96. doi: 10.1016/j.anngen.2003.10.005. Ann Genet. 2004. PMID: 15337475 Review.

8

Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.

Le Caignec C, De Mas P, Vincent MC, Bocéno M, Bourrouillou G, Rival JM, David A. Le Caignec C, et al. Am J Med Genet A. 2005 Jan 15;132A(2):175-80. doi: 10.1002/ajmg.a.30409. Am J Med Genet A. 2005. PMID: 15578619 Review.

9

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. Le Caignec C, et al. J Med Genet. 2005 Feb;42(2):121-8. doi: 10.1136/jmg.2004.025478. J Med Genet. 2005. PMID: 15689449 Free PMC article.

10

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.

Le Caignec C, Swillen A, Van Asche E, Fryns JP, Vermeesch JR. Le Caignec C, et al. Eur J Med Genet. 2005 Jul-Sep;48(3):339-45. doi: 10.1016/j.ejmg.2005.04.010. Eur J Med Genet. 2005. PMID: 16179229

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