Bloch-Zupan A - Search Results

1

Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.

Rey T, Tarabeux J, Gerard B, Delbarre M, Le Béchec A, Stoetzel C, Prasad M, Laugel-Haushalter V, Kawczynski M, Muller J, Chelly J, Dollfus H, Manière MC, Bloch-Zupan A. Rey T, et al. Methods Mol Biol. 2019;1922:407-452. doi: 10.1007/978-1-4939-9012-2_36. Methods Mol Biol. 2019. PMID: 30838594

2

The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.

Bourgeois P, Bolcato-Bellemin AL, Danse JM, Bloch-Zupan A, Yoshiba K, Stoetzel C, Perrin-Schmitt F. Bourgeois P, et al. Hum Mol Genet. 1998 Jun;7(6):945-57. doi: 10.1093/hmg/7.6.945. Hum Mol Genet. 1998. PMID: 9580658

3

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.

Reibel A, Manière MC, Clauss F, Droz D, Alembik Y, Mornet E, Bloch-Zupan A. Reibel A, et al. Orphanet J Rare Dis. 2009 Feb 21;4:6. doi: 10.1186/1750-1172-4-6. Orphanet J Rare Dis. 2009. PMID: 19232125 Free PMC article.

4

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.

Bloch-Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, Strauss JP, Pelletier V, Marion V, Poch O, Strahle U, Stoetzel C, Dollfus H. Bloch-Zupan A, et al. Am J Hum Genet. 2011 Dec 9;89(6):773-81. doi: 10.1016/j.ajhg.2011.11.002. Am J Hum Genet. 2011. PMID: 22152679 Free PMC article.

5

From the transcription of genes involved in ectodermal dysplasias to the understanding of associated dental anomalies.

Laugel-Haushalter V, Langer A, Marrie J, Fraulob V, Schuhbaur B, Koch-Phillips M, Dollé P, Bloch-Zupan A. Laugel-Haushalter V, et al. Mol Syndromol. 2012 Oct;3(4):158-68. doi: 10.1159/000342833. Epub 2012 Sep 27. Mol Syndromol. 2012. PMID: 23239958 Free PMC article.

6

A possible cranio-oro-facial phenotype in Cockayne syndrome.

Bloch-Zupan A, Rousseaux M, Laugel V, Schmittbuhl M, Mathis R, Desforges E, Koob M, Zaloszyc A, Dollfus H, Laugel V. Bloch-Zupan A, et al. Orphanet J Rare Dis. 2013 Jan 14;8:9. doi: 10.1186/1750-1172-8-9. Orphanet J Rare Dis. 2013. PMID: 23311583 Free PMC article.

7

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.

8

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.

9

MSX2 Gene Duplication in a Patient with Eye Development Defects.

Plaisancié J, Collet C, Pelletier V, Perdomo Y, Studer F, Fradin M, Schaefer E, Speeg-Schatz C, Bloch-Zupan A, Flori E, Dollfus H. Plaisancié J, et al. Ophthalmic Genet. 2015;36(4):353-8. doi: 10.3109/13816810.2014.886270. Epub 2014 Mar 25. Ophthalmic Genet. 2015. PMID: 24666290

10

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. Mol Syndromol. 2014 Dec;5(6):293-8. doi: 10.1159/000366252. Epub 2014 Sep 11. Mol Syndromol. 2014. PMID: 25565929 Free PMC article.

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