Ghesh L - Search Results

1

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.

Ghesh L, Vincent M, Delemazure AS, Boyer J, Corre P, Perez F, Geneviève D, Laplanche JL, Collet C, Isidor B. Ghesh L, et al. Am J Med Genet A. 2019 Jul;179(7):1390-1394. doi: 10.1002/ajmg.a.61147. Epub 2019 Apr 8. Am J Med Genet A. 2019. PMID: 30957429 Review.

2

The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.

Ghesh L, Musquer MD, Devisme L, Stichelbout M, Boutaud L, Elkhartoufi N, Vaast P, Boute O, Riteau AS, Le Vaillant C, Winer N, Joubert M, Bezieau S, Thomas S, Attie-Bitach T, Beneteau C. Ghesh L, et al. Clin Genet. 2021 Oct;100(4):462-467. doi: 10.1111/cge.14021. Epub 2021 Jul 13. Clin Genet. 2021. PMID: 34212369

3

A Gardos channelopathy associated with nonimmune hydrops and fetal loss.

Ghesh L, Besnard T, Joubert M, Picard V, Le Vaillant C, Beneteau C. Ghesh L, et al. Clin Genet. 2022 Dec;102(6):543-547. doi: 10.1111/cge.14217. Epub 2022 Sep 13. Clin Genet. 2022. PMID: 36031591

4

Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.

Ghesh L, Besnard T, Nizon M, Trochu E, Landeau-Trottier G, Breheret F, Thauvin-Robinet C, Bruel AL, Kuentz P, Coubes C, Cuisset L, Mignot C, Keren B, Bézieau S, Cogné B. Ghesh L, et al. Hum Mutat. 2021 May;42(5):498-505. doi: 10.1002/humu.24188. Epub 2021 Mar 14. Hum Mutat. 2021. PMID: 33600053

5

Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.

Huynh MT, Gérard M, Ranguin K, Pichon O, Ghesh L, Alfallaj K, Joubert M, Bézieau S, Bénéteau C. Huynh MT, et al. Among authors: ghesh l. Neurogenetics. 2021 Jul;22(3):195-206. doi: 10.1007/s10048-021-00653-6. Epub 2021 Jun 16. Neurogenetics. 2021. PMID: 34132911

6

Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.

Jury J, Joubert M, Le Vaillant C, Ghesh L, Séguéla PE, Bruel AL, Cogné B, Nizon M. Jury J, et al. Among authors: ghesh l. Prenat Diagn. 2024 Sep;44(10):1268-1272. doi: 10.1002/pd.6642. Epub 2024 Aug 8. Prenat Diagn. 2024. PMID: 39117582

7

NOTCH2 related disorders: Description and review of the fetal presentation.

Deb W, Joubert M, Cogné B, Vincent M, Ghesh L, Bézieau S, Le Vaillant C, Beneteau C. Deb W, et al. Among authors: ghesh l. Eur J Med Genet. 2023 Jul;66(7):104769. doi: 10.1016/j.ejmg.2023.104769. Epub 2023 Apr 28. Eur J Med Genet. 2023. PMID: 37121269 Review.

8

Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

Ghesh L, Désir J, Haye D, Le Tanno P, Devillard F, Cogné B, Marangoni M, Tecco L, Heron D, Le Vaillant C, Joubert M, Beneteau C. Ghesh L, et al. Clin Genet. 2023 May;103(5):560-565. doi: 10.1111/cge.14274. Epub 2022 Dec 12. Clin Genet. 2023. PMID: 36453701

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

8 results

Search Page

Filters