Jacquemont S - Search Results

1

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: jacquemont s. Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778. Nat Genet. 2011. PMID: 21378989

2

Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report.

Jacquemont S, Barbarot S, Bocéno M, Stalder JF, David A. Jacquemont S, et al. Am J Med Genet. 2000 Aug 14;93(4):264-8. Am J Med Genet. 2000. PMID: 10946350

3

High risk of malignancy in mosaic variegated aneuploidy syndrome.

Jacquemont S, Bocéno M, Rival JM, Méchinaud F, David A. Jacquemont S, et al. Am J Med Genet. 2002 Apr 15;109(1):17-21; discussion 16. doi: 10.1002/ajmg.10281. Am J Med Genet. 2002. PMID: 11932988 Review.

4

Hajdu-Cheney syndrome and syringomyelia. Case report.

Faure A, David A, Moussally F, Khalfallah M, Jacquemont S, Hamel O, Conti M, Hamel A, Raoul S, Robert R. Faure A, et al. Among authors: jacquemont s. J Neurosurg. 2002 Dec;97(6):1441-6. doi: 10.3171/jns.2002.97.6.1441. J Neurosurg. 2002. PMID: 12507146 Review.

5

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. Among authors: jacquemont s. Ann Genet. 2004 Jul-Sep;47(3):289-96. doi: 10.1016/j.anngen.2003.10.005. Ann Genet. 2004. PMID: 15337475 Review.

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: jacquemont s. 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

Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome.

Buisson P, Leclair MD, Jacquemont S, Podevin G, Camby C, David A, Heloury Y. Buisson P, et al. Among authors: jacquemont s. J Pediatr Surg. 2006 Sep;41(9):1601-3. doi: 10.1016/j.jpedsurg.2006.05.013. J Pediatr Surg. 2006. PMID: 16952599

8

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

Leroy C, Fouveaut C, Leclercq S, Jacquemont S, Boullay HD, Lespinasse J, Delpech M, Dupont JM, Hardelin JP, Dodé C. Leroy C, et al. Among authors: jacquemont s. Eur J Hum Genet. 2008 Jul;16(7):865-8. doi: 10.1038/ejhg.2008.15. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285834

9

Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.

Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C, David A, Jacquemont S. Isidor B, et al. Among authors: jacquemont s. Am J Med Genet A. 2008 Jun 15;146A(12):1593-7. doi: 10.1002/ajmg.a.32217. Am J Med Genet A. 2008. PMID: 18470895

10

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.

Sévin M, Kutalik Z, Bergman S, Vercelletto M, Renou P, Lamy E, Vingerhoets FJ, Di Virgilio G, Boisseau P, Bezieau S, Pasquier L, Rival JM, Beckmann JS, Damier P, Jacquemont S. Sévin M, et al. Among authors: jacquemont s. J Med Genet. 2009 Dec;46(12):818-24. doi: 10.1136/jmg.2008.065953. Epub 2009 Jun 18. J Med Genet. 2009. PMID: 19542082

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

186 results

Search Page