Le Caignec C - Search Results

1

Comparison of Tumor- and Bone Marrow-Derived Mesenchymal Stromal/Stem Cells from Patients with High-Grade Osteosarcoma.

Le Nail LR, Brennan M, Rosset P, Deschaseaux F, Piloquet P, Pichon O, Le Caignec C, Crenn V, Layrolle P, Hérault O, De Pinieux G, Trichet V. Le Nail LR, et al. Among authors: le caignec c. Int J Mol Sci. 2018 Mar 1;19(3):707. doi: 10.3390/ijms19030707. Int J Mol Sci. 2018. PMID: 29494553 Free PMC article.

2

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E; 16p11.2 Consortium; Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, Kutalik Z, Reymond A. Giannuzzi G, et al. NPJ Genom Med. 2023 May 24;8(1):9. doi: 10.1038/s41525-023-00354-z. NPJ Genom Med. 2023. PMID: 37225732 Free PMC article. No abstract available.

3

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.

Le Gloan L, Pichon O, Isidor B, Boceno M, Rival JM, David A, Le Caignec C. Le Gloan L, et al. Among authors: le caignec c. Eur J Med Genet. 2008 Nov-Dec;51(6):651-7. doi: 10.1016/j.ejmg.2008.07.012. Epub 2008 Aug 15. Eur J Med Genet. 2008. PMID: 18775522

4

Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization.

Isidor B, Baujat G, Le Caignec C, Pichon O, Martin-Coignard D, Toutain A, David A. Isidor B, et al. Among authors: le caignec c. Am J Med Genet A. 2009 Aug;149A(8):1734-9. doi: 10.1002/ajmg.a.32796. Am J Med Genet A. 2009. PMID: 19449403

5

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9.

Lecointre C, Pichon O, Hamel A, Heloury Y, Michel-Calemard L, Morel Y, David A, Le Caignec C. Lecointre C, et al. Among authors: le caignec c. Am J Med Genet A. 2009 Jun;149A(6):1183-9. doi: 10.1002/ajmg.a.32830. Am J Med Genet A. 2009. PMID: 19449405

6

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia.

Isidor B, Pichon O, Baron S, David A, Le Caignec C. Isidor B, et al. Among authors: le caignec c. Am J Med Genet A. 2010 Jan;152A(1):175-80. doi: 10.1002/ajmg.a.33152. Am J Med Genet A. 2010. PMID: 20014135

7

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.

Albuisson J, Isidor B, Giraud M, Pichon O, Marsaud T, David A, Le Caignec C, Bezieau S. Albuisson J, et al. Among authors: le caignec c. Clin Genet. 2011 Apr;79(4):371-7. doi: 10.1111/j.1399-0004.2010.01465.x. Clin Genet. 2011. PMID: 20569257

8

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

Isidor B, Pichon O, Redon R, Day-Salvatore D, Hamel A, Siwicka KA, Bitner-Glindzicz M, Heymann D, Kjellén L, Kraus C, Leroy JG, Mortier GR, Rauch A, Verloes A, David A, Le Caignec C. Isidor B, et al. Among authors: le caignec c. Am J Hum Genet. 2010 Jul 9;87(1):95-100. doi: 10.1016/j.ajhg.2010.05.012. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602915 Free PMC article.

9

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. Isidor B, et al. Among authors: le caignec c, le merrer m. Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778. Nat Genet. 2011. PMID: 21378989

10

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.

Isidor B, Le Merrer M, Exner GU, Pichon O, Thierry G, Guiochon-Mantel A, David A, Cormier-Daire V, Le Caignec C. Isidor B, et al. Among authors: le caignec c, le merrer m. Hum Mutat. 2011 Nov;32(11):1239-42. doi: 10.1002/humu.21563. Epub 2011 Sep 12. Hum Mutat. 2011. PMID: 21793104

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