Manouvrier-Hanu S - Search Results

1

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.

Petit F, Cuisset JM, Rouaix-Emery N, Cancés C, Sablonnière B, Bieth E, Moerman A, Sukno S, Hardy N, Holder-Espinasse M, Manouvrier-Hanu S, Vallée L. Petit F, et al. Muscle Nerve. 2011 Jan;43(1):26-30. doi: 10.1002/mus.21832. Muscle Nerve. 2011. PMID: 21171094

2

Genetics of limb anomalies in humans.

Manouvrier-Hanu S, Holder-Espinasse M, Lyonnet S. Manouvrier-Hanu S, et al. Trends Genet. 1999 Oct;15(10):409-17. doi: 10.1016/s0168-9525(99)01823-5. Trends Genet. 1999. PMID: 10498937 Review.

3

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.

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

[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.

6

Pre- and postnatal diagnosis of limb anomalies: a series of 107 cases.

Holder-Espinasse M, Devisme L, Thomas D, Boute O, Vaast P, Fron D, Herbaux B, Puech F, Manouvrier-Hanu S. Holder-Espinasse M, et al. Am J Med Genet A. 2004 Feb 1;124A(4):417-22. doi: 10.1002/ajmg.a.20359. Am J Med Genet A. 2004. PMID: 14735595 Review.

7

Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

Holder-Espinasse M, Fayoux P, Morillon S, Fourier C, Dieux-Coeslier A, Manouvrier-Hanu S, Le Merrer M, Hall CM. Holder-Espinasse M, et al. Clin Dysmorphol. 2004 Jul;13(3):133-135. doi: 10.1097/01.mcd.0000130236.02981.c5. Clin Dysmorphol. 2004. PMID: 15194947

8

[Genetics and orthopedics: genetic implications of congenital limb abnormalities].

Holder-Espinasse M, Herbaux B, Mezel A, Lacombe D, Devisme L, Boute-Bénéjean O, Dieux-Coeslier A, Escande F, Manouvrier-Hanu S. Holder-Espinasse M, et al. Rev Chir Orthop Reparatrice Appar Mot. 2006 Feb;92(1):83-94. doi: 10.1016/s0035-1040(06)75680-x. Rev Chir Orthop Reparatrice Appar Mot. 2006. PMID: 16609623 Review. French.

9

A new mutation in TP63 is associated with age-related pathology.

Holder-Espinasse M, Martin-Coignard D, Escande F, Manouvrier-Hanu S. Holder-Espinasse M, et al. Eur J Hum Genet. 2007 Nov;15(11):1115-20. doi: 10.1038/sj.ejhg.5201888. Epub 2007 Jul 4. Eur J Hum Genet. 2007. PMID: 17609671 Review.

10

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

Andrieux J, Lepretre F, Cuisset JM, Goldenberg A, Delobel B, Manouvrier-Hanu S, Holder-Espinasse M. Andrieux J, et al. Eur J Med Genet. 2008 Mar-Apr;51(2):172-7. doi: 10.1016/j.ejmg.2007.12.002. Epub 2008 Jan 14. Eur J Med Genet. 2008. PMID: 18222743

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