Dupuis L - Search Results

1

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.

Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. Shieh JT, et al. Among authors: dupuis l. HGG Adv. 2023 Oct 12;4(4):100236. doi: 10.1016/j.xhgg.2023.100236. Epub 2023 Sep 3. HGG Adv. 2023. PMID: 37660254 Free PMC article.

2

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.

Stockley TL, Mendoza-Londono R, Propst EJ, Sodhi S, Dupuis L, Papsin BC. Stockley TL, et al. Among authors: dupuis l. Am J Med Genet A. 2009 Mar;149A(3):322-7. doi: 10.1002/ajmg.a.32679. Am J Med Genet A. 2009. PMID: 19206155

3

Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.

Barnett CP, Mendoza-Londono R, Blaser S, Gillis J, Dupuis L, Levin AV, Chiang PW, Spector E, Reardon W. Barnett CP, et al. Among authors: dupuis l. Am J Med Genet A. 2009 Mar;149A(3):431-6. doi: 10.1002/ajmg.a.32657. Am J Med Genet A. 2009. PMID: 19208381

4

Severe intellectual disability and autistic features associated with microduplication 2q23.1.

Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R. Chung BH, et al. Among authors: dupuis l. Eur J Hum Genet. 2012 Apr;20(4):398-403. doi: 10.1038/ejhg.2011.199. Epub 2011 Nov 16. Eur J Hum Genet. 2012. PMID: 22085900 Free PMC article.

5

Angelman syndrome due to a termination codon mutation of the UBE3A gene.

Al-Maawali A, Machado J, Fang P, Dupuis L, Faghfoury H, Mendoza-Londono R. Al-Maawali A, et al. Among authors: dupuis l. J Child Neurol. 2013 Mar;28(3):392-5. doi: 10.1177/0883073812443591. Epub 2012 May 7. J Child Neurol. 2013. PMID: 22566713

6

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Mendoza-Londono R, Chitayat D, Kahr WH, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras R, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L. Mendoza-Londono R, et al. Among authors: dupuis l. Am J Med Genet A. 2012 Jun;158A(6):1344-54. doi: 10.1002/ajmg.a.35339. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581468

7

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.

Chénier S, Noor A, Dupuis L, Stavropoulos DJ, Mendoza-Londono R. Chénier S, et al. Among authors: dupuis l. Am J Med Genet A. 2012 Nov;158A(11):2946-52. doi: 10.1002/ajmg.a.35619. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987541

8

The collagenopathies: review of clinical phenotypes and molecular correlations.

Jobling R, D'Souza R, Baker N, Lara-Corrales I, Mendoza-Londono R, Dupuis L, Savarirayan R, Ala-Kokko L, Kannu P. Jobling R, et al. Among authors: dupuis l. Curr Rheumatol Rep. 2014 Jan;16(1):394. doi: 10.1007/s11926-013-0394-3. Curr Rheumatol Rep. 2014. PMID: 24338780 Review.

9

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.

Al-Maawali A, Marshall CR, Scherer SW, Dupuis L, Mendoza-Londono R, Stavropoulos DJ. Al-Maawali A, et al. Among authors: dupuis l. Am J Med Genet A. 2014 Mar;164A(3):796-800. doi: 10.1002/ajmg.a.36356. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375972

10

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

Noor A, Dupuis L, Mittal K, Lionel AC, Marshall CR, Scherer SW, Stockley T, Vincent JB, Mendoza-Londono R, Stavropoulos DJ. Noor A, et al. Among authors: dupuis l. Hum Mutat. 2015 Jul;36(7):689-93. doi: 10.1002/humu.22800. Hum Mutat. 2015. PMID: 25884337

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

484 results

Search Page