Moncla A - Search Results

1

Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.

Philip N, Andrac L, Moncla A, Sigaudy S, Zanon N, Lena G, Choux M. Philip N, et al. Among authors: moncla a. Clin Dysmorphol. 1995 Oct;4(4):347-51. doi: 10.1097/00019605-199510000-00011. Clin Dysmorphol. 1995. PMID: 8574426

2

Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.

Sigaudy S, Moncla A, Fredouille C, Bourlière B, Lambert JC, Philip N. Sigaudy S, et al. Among authors: moncla a. Clin Dysmorphol. 1998 Oct;7(4):257-62. doi: 10.1097/00019605-199810000-00004. Clin Dysmorphol. 1998. PMID: 9823491

3

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Philip N, Meinecke P, David A, Dean J, Ayme S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D, et al. Philip N, et al. Among authors: moncla a. Clin Dysmorphol. 1992 Apr;1(2):63-77. Clin Dysmorphol. 1992. PMID: 1285376

4

Cerebrofaciothoracic dysplasia: a new family.

Philip N, Guala A, Moncla A, Monlouis M, Aymé S, Giraud F. Philip N, et al. Among authors: moncla a. J Med Genet. 1992 Jul;29(7):497-9. J Med Genet. 1992. PMID: 1640432 Free PMC article.

5

[Smith-Magenis syndrome].

Livet MO, Moncla A, Delobel B, Croquette MF, Philip N, Vallée L. Livet MO, et al. Among authors: moncla a. Arch Pediatr. 1997 Dec;4(12):1231-7. doi: 10.1016/s0929-693x(97)82615-2. Arch Pediatr. 1997. PMID: 9538429 French.

6

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourlière B, Ayme S, Philip N. Sigaudy S, et al. Among authors: moncla a. Am J Med Genet. 1998 Oct 30;80(1):16-24. Am J Med Genet. 1998. PMID: 9800907 Review.

7

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation.

Philip N, Colleaux L, Sigaudy S, Attié-Bitach T, Missirian C, Moncla A, Mattei MG, Bollini G. Philip N, et al. Among authors: moncla a. Am J Med Genet A. 2005 Apr 1;134A(1):39-44. doi: 10.1002/ajmg.a.30468. Am J Med Genet A. 2005. PMID: 15732060

8

Physical mapping of an Xq-proximal interstitial duplication in a male.

Muscatelli F, Verna JM, Philip N, Moncla A, Mattei MG, Mattei JF, Fontes M. Muscatelli F, et al. Among authors: moncla a. Hum Genet. 1992 Mar;88(6):691-4. doi: 10.1007/BF02265299. Hum Genet. 1992. PMID: 1551675

9

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma.

Sigaudy S, Vittu G, David A, Vigneron J, Lacombe D, Moncla A, Flori E, Philip N. Sigaudy S, et al. Among authors: moncla a. Eur J Pediatr. 2000 Mar;159(3):139-42. doi: 10.1007/s004310050037. Eur J Pediatr. 2000. PMID: 10664222

10

Fragile X syndrome and 22q11.2 microdeletion in the same sibship.

Missirian C, Moncla A, Voelckel MA, Ravix V, Philip N. Missirian C, et al. Among authors: moncla a. Am J Med Genet. 2000 Dec 11;95(4):358-60. Am J Med Genet. 2000. PMID: 11186890

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