Coeslier AD - Search Results

1

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerrière A, Devaux J, Melki J. Maluenda J, et al. Among authors: coeslier ad. Am J Hum Genet. 2016 Oct 6;99(4):928-933. doi: 10.1016/j.ajhg.2016.07.021. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616481 Free PMC article.

2

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Milh M, Lacoste C, Cacciagli P, Abidi A, Sutera-Sardo J, Tzelepis I, Colin E, Badens C, Afenjar A, Coeslier AD, Dailland T, Lesca G, Philip N, Villard L. Milh M, et al. Among authors: coeslier ad. Am J Med Genet A. 2015 Oct;167A(10):2314-8. doi: 10.1002/ajmg.a.37152. Epub 2015 May 10. Am J Med Genet A. 2015. PMID: 25959266

3

Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?

Manouvrier S, Moerman A, Coeslier A, Devisme L, Boute O, Le Merrer M. Manouvrier S, et al. Am J Med Genet. 2000 Feb 28;90(5):351-5. doi: 10.1002/(sici)1096-8628(20000228)90:5<351::aid-ajmg1>3.0.co;2-k. Am J Med Genet. 2000. PMID: 10706353

4

The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.

Walter-Nicolet E, Coëslier A, Joriot S, Kacet N, Moerman A, Manouvrier-Hanu S. Walter-Nicolet E, et al. Am J Med Genet. 1999 Dec 22;87(5):430-3. doi: 10.1002/(sici)1096-8628(19991222)87:5<430::aid-ajmg11>3.0.co;2-9. Am J Med Genet. 1999. PMID: 10594883 Review.

5

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.

Manouvrier-Hanu S, Amiel J, Jacquot S, Merienne K, Moerman A, Coëslier A, Labarriere F, Vallée L, Croquette MF, Hanauer A. Manouvrier-Hanu S, et al. J Med Genet. 1999 Oct;36(10):775-8. doi: 10.1136/jmg.36.10.775. J Med Genet. 1999. PMID: 10528858 Free PMC article.

6

[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].

Morisot C, Millat G, Coeslier A, Bourgois B, Fontenoy E, Dobbelaere D, Verot L, Haouari N, Vaillant C, Gottrand F, Bogaert E, Thelliez P, Klosowski S, Djebara A, Bachiri A, Manouvrier S, Vanier MT. Morisot C, et al. Arch Pediatr. 2005 Apr;12(4):434-7. doi: 10.1016/j.arcped.2005.01.015. Arch Pediatr. 2005. PMID: 15808435 French.

7

[Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio disease].

Coëslier A, Boute-Bénéjean O, Moerman A, Fron D, Manouvrier-Hanu S. Coëslier A, et al. Arch Pediatr. 2001 Aug;8(8):838-42. doi: 10.1016/s0929-693x(01)00544-9. Arch Pediatr. 2001. PMID: 11524915 French.

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