Edouard T - Search Results

1

WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis.

Caetano da Silva C, Edouard T, Fradin M, Aubert-Mucca M, Ricquebourg M, Raman R, Salles JP, Charon V, Guggenbuhl P, Muller M, Cohen-Solal M, Collet C. Caetano da Silva C, et al. Among authors: edouard t. Hum Mol Genet. 2022 May 19;31(10):1622-1634. doi: 10.1093/hmg/ddab349. Hum Mol Genet. 2022. PMID: 34875064 Free PMC article.

2

[Bone mineral metabolism: recent data and perspectives related to osteogenesis].

Gennero I, Moulin P, Edouard T, Conte-Auriol F, Tauber MT, Salles JP. Gennero I, et al. Among authors: edouard t. Arch Pediatr. 2004 Dec;11(12):1473-83. doi: 10.1016/j.arcped.2004.08.006. Arch Pediatr. 2004. PMID: 15596338 Review. French.

3

Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome.

Gennero I, Edouard T, Rashad M, Bieth E, Conte-Aurio F, Marin F, Tauber M, Salles JP, El Kholy M. Gennero I, et al. Among authors: edouard t. J Pediatr Endocrinol Metab. 2007 Jul;20(7):825-31. doi: 10.1515/jpem.2007.20.7.825. J Pediatr Endocrinol Metab. 2007. PMID: 17849745

4

Prevalence of IGF1 deficiency in prepubertal children with isolated short stature.

Edouard T, Grünenwald S, Gennero I, Salles JP, Tauber M. Edouard T, et al. Eur J Endocrinol. 2009 Jul;161(1):43-50. doi: 10.1530/EJE-08-0964. Epub 2009 May 5. Eur J Endocrinol. 2009. PMID: 19417076

5

OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.

Huber C, Fradin M, Edouard T, Le Merrer M, Alanay Y, Da Silva DB, David A, Hamamy H, van Hest L, Lund AM, Michaud J, Oley C, Patel C, Rajab A, Skidmore DL, Stewart H, Tauber M, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: edouard t. Hum Mutat. 2010 Jan;31(1):20-6. doi: 10.1002/humu.21150. Hum Mutat. 2010. PMID: 19877176

6

Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth.

Tajan M, Pernin-Grandjean J, Beton N, Gennero I, Capilla F, Neel BG, Araki T, Valet P, Tauber M, Salles JP, Yart A, Edouard T. Tajan M, et al. Among authors: edouard t. Hum Mol Genet. 2018 Jul 1;27(13):2276-2289. doi: 10.1093/hmg/ddy133. Hum Mol Genet. 2018. PMID: 29659837 Free PMC article.

7

Guidelines for the management of children at risk of secondary bone fragility: Expert opinion of a French working group.

Edouard T, Guillaume-Czitrom S, Bacchetta J, Sermet-Gaudelus I, Dugelay E, Martinez-Vinson C, Salles JP, Linglart A. Edouard T, et al. Arch Pediatr. 2020 Oct;27(7):393-398. doi: 10.1016/j.arcped.2020.07.008. Epub 2020 Sep 10. Arch Pediatr. 2020. PMID: 32921532

8

Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

Chesneau B, Plancke A, Rolland G, Chassaing N, Coubes C, Brischoux-Boucher E, Edouard T, Dulac Y, Aubert-Mucca M, Lavabre-Bertrand T, Plaisancié J, Khau Van Kien P. Chesneau B, et al. Among authors: edouard t. Eur J Hum Genet. 2021 May;29(5):771-779. doi: 10.1038/s41431-020-00797-3. Epub 2021 Jan 7. Eur J Hum Genet. 2021. PMID: 33414558 Free PMC article.

9

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature.

Aubert-Mucca M, Dubucs C, Groussolles M, Vial J, Le Guillou E, Porquet-Bordes V, Pasmant E, Salles JP, Edouard T. Aubert-Mucca M, et al. Among authors: edouard t. Bone Rep. 2021 Jun 9;15:101097. doi: 10.1016/j.bonr.2021.101097. eCollection 2021 Dec. Bone Rep. 2021. PMID: 34169121 Free PMC article.

10

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

Chesneau B, Plancke A, Rolland G, Marcheix B, Dulac Y, Edouard T, Plaisancié J, Aubert-Mucca M, Julia S, Langeois M, Lavabre-Bertrand T, Khau Van Kien P. Chesneau B, et al. Among authors: edouard t. Mol Genet Genomic Med. 2021 Nov;9(11):e1814. doi: 10.1002/mgg3.1814. Epub 2021 Oct 21. Mol Genet Genomic Med. 2021. PMID: 34672437 Free PMC article.

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