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2012 1
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14 results

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Page 1
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N; O-Rare consortium; Dure-Molla M, Noirrit E, Hernandez M, Joseph-Beaudin C, Lopez S, Tardieu C, Thivichon-Prince B; ERN Cranio Consortium; Dostalova T, Macek M Jr; International Consortium; Alloussi ME, Qebibo L, Morkmued S, Pungchanchaikul P, Orellana BU, Manière MC, Gérard B, Bugueno IM, Laugel-Haushalter V. Bloch-Zupan A, et al. Among authors: laugel haushalter v. Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023. Front Physiol. 2023. PMID: 37228816 Free PMC article.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. Among authors: laugel haushalter v. J Med Genet. 2024 Jun 20;61(7):689-698. doi: 10.1136/jmg-2023-109728. J Med Genet. 2024. PMID: 38458752 Free PMC article.
RSK2 is a modulator of craniofacial development.
Laugel-Haushalter V, Paschaki M, Marangoni P, Pilgram C, Langer A, Kuntz T, Demassue J, Morkmued S, Choquet P, Constantinesco A, Bornert F, Schmittbuhl M, Pannetier S, Viriot L, Hanauer A, Dollé P, Bloch-Zupan A. Laugel-Haushalter V, et al. PLoS One. 2014 Jan 8;9(1):e84343. doi: 10.1371/journal.pone.0084343. eCollection 2014. PLoS One. 2014. PMID: 24416220 Free PMC article.
Retinoic Acid Excess Impairs Amelogenesis Inducing Enamel Defects.
Morkmued S, Laugel-Haushalter V, Mathieu E, Schuhbaur B, Hemmerlé J, Dollé P, Bloch-Zupan A, Niederreither K. Morkmued S, et al. Among authors: laugel haushalter v. Front Physiol. 2017 Jan 6;7:673. doi: 10.3389/fphys.2016.00673. eCollection 2016. Front Physiol. 2017. PMID: 28111553 Free PMC article.
Molars and incisors: show your microarray IDs.
Laugel-Haushalter V, Paschaki M, Thibault-Carpentier C, Dembelé D, Dollé P, Bloch-Zupan A. Laugel-Haushalter V, et al. BMC Res Notes. 2013 Mar 26;6:113. doi: 10.1186/1756-0500-6-113. BMC Res Notes. 2013. PMID: 23531410 Free PMC article.
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerlé J, Weickert JL, Dabovic BB, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, Mcleod R, Antequera R, Gellé MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Manière MC, Van Hul W, Bertola D, Dollé P, Verloes A, Mortier G, Dollfus H, Bloch-Zupan A. Huckert M, et al. Among authors: laugel haushalter v. Hum Mol Genet. 2015 Jun 1;24(11):3038-49. doi: 10.1093/hmg/ddv053. Epub 2015 Feb 10. Hum Mol Genet. 2015. PMID: 25669657 Free PMC article.
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
Huckert M, Mecili H, Laugel-Haushalter V, Stoetzel C, Muller J, Flori E, Laugel V, Manière MC, Dollfus H, Bloch-Zupan A. Huckert M, et al. Among authors: laugel haushalter v. Mol Syndromol. 2014 Dec;5(6):293-8. doi: 10.1159/000366252. Epub 2014 Sep 11. Mol Syndromol. 2014. PMID: 25565929 Free PMC article.
14 results