Frébourg T - Search Results

1

Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method.

Saugier-Veber P, Drouot N, Lefebvre S, Charbonnier F, Vial E, Munnich A, Frébourg T. Saugier-Veber P, et al. Among authors: frebourg t. J Med Genet. 2001 Apr;38(4):240-3. doi: 10.1136/jmg.38.4.240. J Med Genet. 2001. PMID: 11368028 Free PMC article. No abstract available.

2

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments.

Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, Saurin JC, Puisieux A, Olschwang S, Frebourg T. Charbonnier F, et al. Among authors: frebourg t. Cancer Res. 2000 Jun 1;60(11):2760-3. Cancer Res. 2000. PMID: 10850409

3

Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

Bougeard G, Limacher JM, Martin C, Charbonnier F, Killian A, Delattre O, Longy M, Jonveaux P, Fricker JP, Stoppa-Lyonnet D, Flaman JM, Frébourg T. Bougeard G, et al. Among authors: frebourg t. J Med Genet. 2001 Apr;38(4):253-7. doi: 10.1136/jmg.38.4.253. J Med Genet. 2001. PMID: 11370630 Free PMC article. No abstract available.

4

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.

Saugier-Veber P, Doummar D, Barthez MA, Czernecki V, Drouot N, Apartis E, Bürglen L, Frebourg T, Roze E. Saugier-Veber P, et al. Among authors: frebourg t. Am J Med Genet A. 2010 May;152A(5):1244-9. doi: 10.1002/ajmg.a.33369. Am J Med Genet A. 2010. PMID: 20425829

5

Early onset brain tumor and lymphoma in MSH2-deficient children.

Bougeard G, Charbonnier F, Moerman A, Martin C, Ruchoux MM, Drouot N, Frébourg T. Bougeard G, et al. Among authors: frebourg t. Am J Hum Genet. 2003 Jan;72(1):213-6. doi: 10.1086/345297. Am J Hum Genet. 2003. PMID: 12549480 Free PMC article. No abstract available.

6

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. Among authors: frebourg t. J Med Genet. 2005 Feb;42(2):121-8. doi: 10.1136/jmg.2004.025478. J Med Genet. 2005. PMID: 15689449 Free PMC article.

7

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.

Campion D, Brice A, Hannequin D, Charbonnier F, Dubois B, Martin C, Michon A, Penet C, Bellis M, Calenda A, Martinez M, Agid Y, Clerget-Darpoux F, Frebourg T. Campion D, et al. Among authors: frebourg t. J Med Genet. 1996 Aug;33(8):661-4. doi: 10.1136/jmg.33.8.661. J Med Genet. 1996. PMID: 8863158 Free PMC article.

8

Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Saugier-Veber P, Drouot N, Wolf LM, Kuhn JM, Frébourg T, Lefebvre H. Saugier-Veber P, et al. Among authors: frebourg t. Eur J Endocrinol. 2001 Apr;144(4):347-51. doi: 10.1530/eje.0.1440347. Eur J Endocrinol. 2001. PMID: 11275943

9

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

Saugier-Veber P, Goldenberg A, Drouin-Garraud V, de La Rochebrochard C, Layet V, Drouot N, Le Meur N, Gilbert-Du-Ssardier B, Joly-Hélas G, Moirot H, Rossi A, Tosi M, Frébourg T. Saugier-Veber P, et al. Among authors: frebourg t. Eur J Hum Genet. 2006 Sep;14(9):1009-17. doi: 10.1038/sj.ejhg.5201661. Epub 2006 Jun 14. Eur J Hum Genet. 2006. PMID: 16773131

10

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

Vezain M, Saugier-Veber P, Melki J, Toutain A, Bieth E, Husson M, Pedespan JM, Viollet L, Pénisson-Besnier I, Fehrenbach S, Bou J, Frébourg T, Tosi M. Vezain M, et al. Among authors: frebourg t. Eur J Hum Genet. 2007 Oct;15(10):1054-62. doi: 10.1038/sj.ejhg.5201885. Epub 2007 Jul 4. Eur J Hum Genet. 2007. PMID: 17609673

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

401 results

Search Page

Filters