Guichet A - Search Results

1

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

Tessarech M, Gorce M, Boussion F, Bault JP, Triau S, Charif M, Khiaty S, Delorme B, Guichet A, Ziegler A, Bris C, Laquerrière A, Fallet-Bianco C, Jacquette A, Salhi H, Héron D, Reynier P, Procaccio V, Bonneau D, Colin E. Tessarech M, et al. Among authors: guichet a. Am J Med Genet A. 2020 Mar;182(3):565-569. doi: 10.1002/ajmg.a.61384. Epub 2019 Dec 3. Am J Med Genet A. 2020. PMID: 31793730

2

Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia.

Bonneau D, Guichet A, Boussion F, Lépinard C, Biquard F, Descamps P. Bonneau D, et al. Among authors: guichet a. Am J Med Genet A. 2004 Dec 1;131(2):204. doi: 10.1002/ajmg.a.30180. Am J Med Genet A. 2004. PMID: 15487011 No abstract available.

3

Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.

Guichet A, Triau S, Lépinard C, Esculapavit C, Biquard F, Descamps P, Encha-Razavi F, Bonneau D. Guichet A, et al. Prenat Diagn. 2004 Oct;24(10):828-32. doi: 10.1002/pd.997. Prenat Diagn. 2004. PMID: 15503273

4

Prenatal diagnosis of absence of the septum pellucidum associated with septo-optic dysplasia.

Lepinard C, Coutant R, Boussion F, Loisel D, Delorme B, Biquard F, Bonneau D, Guichet A, Descamps P. Lepinard C, et al. Among authors: guichet a. Ultrasound Obstet Gynecol. 2005 Jan;25(1):73-5. doi: 10.1002/uog.1807. Ultrasound Obstet Gynecol. 2005. PMID: 15593257 Free article.

5

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.

Loiseau D, Chevrollier A, Verny C, Guillet V, Gueguen N, Pou de Crescenzo MA, Ferré M, Malinge MC, Guichet A, Nicolas G, Amati-Bonneau P, Malthièry Y, Bonneau D, Reynier P. Loiseau D, et al. Among authors: guichet a. Ann Neurol. 2007 Apr;61(4):315-23. doi: 10.1002/ana.21086. Ann Neurol. 2007. PMID: 17444508

6

Influence of ultrasonographers training on prenatal diagnosis of congenital heart diseases: a 12-year population-based study.

Pézard P, Bonnemains L, Boussion F, Sentilhes L, Allory P, Lépinard C, Guichet A, Triau S, Biquard F, Leblanc M, Bonneau D, Descamps P. Pézard P, et al. Among authors: guichet a. Prenat Diagn. 2008 Nov;28(11):1016-22. doi: 10.1002/pd.2113. Prenat Diagn. 2008. PMID: 18925579

7

Binder phenotype in mothers affected with autoimmune disorders.

Colin E, Touraine R, Levaillant JM, Pasquier L, Boussion F, Ferry M, Guichet A, Barth M, Mercier A, Gérard-Blanluet M, Odent S, Bonneau D. Colin E, et al. Among authors: guichet a. J Matern Fetal Neonatal Med. 2012 Aug;25(8):1413-8. doi: 10.3109/14767058.2011.636105. Epub 2011 Dec 7. J Matern Fetal Neonatal Med. 2012. PMID: 22082304 Free article.

8

Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.

Colin E, Bonneau D, Boussion F, Guichet A, Delorme B, Triau S, Gillard P, Kitzis A, Bilan F. Colin E, et al. Among authors: guichet a. Prenat Diagn. 2012 Jul;32(7):692-4. doi: 10.1002/pd.3876. Epub 2012 Apr 20. Prenat Diagn. 2012. PMID: 22517486

9

Fetal intracerebral hemorrhage and cataract: think COL4A1.

Colin E, Sentilhes L, Sarfati A, Mine M, Guichet A, Ploton C, Boussion F, Delorme B, Tournier-Lasserve E, Bonneau D. Colin E, et al. Among authors: guichet a. J Perinatol. 2014 Jan;34(1):75-7. doi: 10.1038/jp.2013.135. J Perinatol. 2014. PMID: 24374867

10

Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome).

Ziegler A, Guichet A, Pinson L, Barth M, Levade T, Bonneau D, Colin E. Ziegler A, et al. Among authors: guichet a. Clin Dysmorphol. 2014 Jul;23(3):109-110. doi: 10.1097/MCD.0000000000000041. Clin Dysmorphol. 2014. PMID: 24859493 No abstract available.

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