Lacombe D - Search Results

1

The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.

Hinzpeter A, Reboul MP, Callebaut I, Zordan C, Costes B, Guichoux J, Iron A, Lacombe D, Martin N, Arveiler B, Fanen P, Fergelot P, Girodon E. Hinzpeter A, et al. Among authors: lacombe d. Clin Case Rep. 2017 Mar 30;5(5):658-663. doi: 10.1002/ccr3.760. eCollection 2017 May. Clin Case Rep. 2017. PMID: 28469871 Free PMC article.

2

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.

Reboul MP, Bieth E, Fayon M, Biteau N, Barbier R, Dromer C, Desgeorges M, Claustres M, Bremont F, Lacombe D, Iron A. Reboul MP, et al. Among authors: lacombe d. J Med Genet. 2002 Nov;39(11):e73. doi: 10.1136/jmg.39.11.e73. J Med Genet. 2002. PMID: 12414835 Free PMC article. No abstract available.

3

[Costello syndrome: clinical aspects and tumor risk].

Delrue MA, Arveiler B, Lacombe D. Delrue MA, et al. Among authors: lacombe d. Arch Pediatr. 2002 Oct;9(10):1059-63. doi: 10.1016/s0929-693x(02)00058-1. Arch Pediatr. 2002. PMID: 12462839 Review. French.

4

Isolated idiopathic chronic pancreatitis associated with a compound heterozygosity for two mutations of the CFTR gene.

Reboul MP, Laharie D, Amouretti M, Lacombe D, Iron A. Reboul MP, et al. Among authors: lacombe d. Gastroenterol Clin Biol. 2003 Aug-Sep;27(8-9):821-4. Gastroenterol Clin Biol. 2003. PMID: 14586256 Free article. Review.

5

Costello syndrome and neurological abnormalities.

Delrue MA, Chateil JF, Arveiler B, Lacombe D. Delrue MA, et al. Among authors: lacombe d. Am J Med Genet A. 2003 Dec 15;123A(3):301-5. doi: 10.1002/ajmg.a.20330. Am J Med Genet A. 2003. PMID: 14608654 Review.

6

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Goizet C, Coupry I, Rooryck C, Taine L, Dormoy V, Lacombe D, Arveiler B. Goizet C, et al. Among authors: lacombe d. Eur J Hum Genet. 2004 Mar;12(3):245-50. doi: 10.1038/sj.ejhg.5201128. Eur J Hum Genet. 2004. PMID: 14722582

7

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.

Coupry I, Monnet L, Attia AA, Taine L, Lacombe D, Arveiler B. Coupry I, et al. Among authors: lacombe d. Hum Mutat. 2004 Mar;23(3):278-84. doi: 10.1002/humu.20001. Hum Mutat. 2004. PMID: 14974086

8

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.

Chassaing N, Siani V, Carles D, Delezoide AL, Alberti EM, Battin J, Chateil JF, Gilbert-Dussardier B, Coupry I, Arveiler B, Saura R, Lacombe D. Chassaing N, et al. Among authors: lacombe d. Am J Med Genet A. 2005 Aug 1;136A(4):307-12. doi: 10.1002/ajmg.a.30570. Am J Med Genet A. 2005. PMID: 16001442

9

Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.

Reboul MP, Tandonnet O, Biteau N, Belet-de Putter C, Rebouissoux L, Moradkhani K, Vu PY, Saura R, Arveiler B, Lacombe D, Taine L, Iron A. Reboul MP, et al. Among authors: lacombe d. Clin Genet. 2006 Sep;70(3):207-13. doi: 10.1111/j.1399-0004.2006.00664.x. Clin Genet. 2006. PMID: 16922723

10

Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments.

Stef M, Simon D, Burgelin I, Guisle I, Chevalier C, Delrue MA, Lacombe D, Léger J, Arveiler B. Stef M, et al. Among authors: lacombe d. Hum Mutat. 2006 Nov;27(11):1143-50. doi: 10.1002/humu.20398. Hum Mutat. 2006. PMID: 16952148

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