Lunardi J - Search Results

1

Mutations in OCRL1 gene in Indian children with Lowe syndrome.

Sethi SK, Bagga A, Gulati A, Hari P, Gupta N, Lunardi J. Sethi SK, et al. Among authors: lunardi j. Clin Exp Nephrol. 2008 Oct;12(5):358-362. doi: 10.1007/s10157-008-0059-0. Epub 2008 May 24. Clin Exp Nephrol. 2008. PMID: 18500547

2

Antenatal diagnosis of Lowe syndrome.

Sethi SK, Lunardi J, Kabra M, Deka D, Bagga A. Sethi SK, et al. Among authors: lunardi j. Clin Exp Nephrol. 2010 Jun;14(3):296-7. doi: 10.1007/s10157-010-0267-2. Epub 2010 Feb 17. Clin Exp Nephrol. 2010. PMID: 20162319 No abstract available.

3

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.

Coutton C, Monnier N, Rendu J, Lunardi J. Coutton C, et al. Among authors: lunardi j. Clin Biochem. 2010 Apr;43(6):609-14. doi: 10.1016/j.clinbiochem.2009.12.012. Epub 2010 Jan 4. Clin Biochem. 2010. PMID: 20043897

4

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, Baujat G, Blanchard A, Nobili F, Ranchin B, Remesy M, Salomon R, Satre V, Lunardi J. Hichri H, et al. Among authors: lunardi j. Hum Mutat. 2011 Apr;32(4):379-88. doi: 10.1002/humu.21391. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21031565 Free article.

5

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk PS, Lopez-Pajares I, Megabarne A, Philippe HJ, Plauchu H, Torres ML, Lunardi J. Satre V, et al. Among authors: lunardi j. Am J Hum Genet. 1999 Jul;65(1):68-76. doi: 10.1086/302443. Am J Hum Genet. 1999. PMID: 10364518 Free PMC article.

6

OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mutat. 2000;16(2):157-65. doi: 10.1002/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10923037

7

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.

Montjean R, Aoidi R, Desbois P, Rucci J, Trichet M, Salomon R, Rendu J, Fauré J, Lunardi J, Gacon G, Billuart P, Dorseuil O. Montjean R, et al. Among authors: lunardi j. Hum Mol Genet. 2015 Feb 15;24(4):994-1006. doi: 10.1093/hmg/ddu514. Epub 2014 Oct 9. Hum Mol Genet. 2015. PMID: 25305077

8

Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.

Rendu J, Montjean R, Coutton C, Suri M, Chicanne G, Petiot A, Brocard J, Grunwald D, Pietri Rouxel F, Payrastre B, Lunardi J, Dorseuil O, Marty I, Fauré J. Rendu J, et al. Among authors: lunardi j. Hum Mutat. 2017 Feb;38(2):152-159. doi: 10.1002/humu.23139. Epub 2016 Nov 21. Hum Mutat. 2017. PMID: 27790796

9

Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.

Lasne D, Baujat G, Mirault T, Lunardi J, Grelac F, Egot M, Salomon R, Bachelot-Loza C. Lasne D, et al. Among authors: lunardi j. Br J Haematol. 2010 Sep;150(6):685-8. doi: 10.1111/j.1365-2141.2010.08304.x. Br J Haematol. 2010. PMID: 20629659 Free article.

10

[Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient].

Chabaâ L, Monnier N, Dahri S, Jorio M, Lunardi J, Chabraoui L. Chabaâ L, et al. Among authors: lunardi j. Ann Biol Clin (Paris). 2006 Jan-Feb;64(1):53-9. Ann Biol Clin (Paris). 2006. PMID: 16420990 Free article. French.

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

158 results

Search Page

Filters