Saura R - Search Results

1

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP. Dodé C, et al. Among authors: saura r. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627230

2

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.

Chassaing N, Siani V, Carles D, Delezoide AL, Alberti EM, Battin J, Chateil JF, Gilbert-Dussardier B, Coupry I, Arveiler B, Saura R, Lacombe D. Chassaing N, et al. Among authors: saura r. Am J Med Genet A. 2005 Aug 1;136A(4):307-12. doi: 10.1002/ajmg.a.30570. Am J Med Genet A. 2005. PMID: 16001442

3

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.

Toutain J, Taine L, Morice-Picard F, Hallal H, Dai ZQ, Arveiler B, Lacombe D, Horovitz J, Saura R. Toutain J, et al. Among authors: saura r. Eur J Med Genet. 2011 May-Jun;54(3):292-4. doi: 10.1016/j.ejmg.2010.12.005. Epub 2011 Jan 5. Eur J Med Genet. 2011. PMID: 21215339

4

Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33.

Taine L, Coupry I, Boisseau P, Saura R, Lacombe D, Arveiler B. Taine L, et al. Among authors: saura r. Hum Genet. 1998 Feb;102(2):178-81. doi: 10.1007/s004390050673. Hum Genet. 1998. PMID: 9521585

5

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

Lacombe D, Saura R, Taine L, Battin J. Lacombe D, et al. Among authors: saura r. Am J Med Genet. 1992 Sep 1;44(1):126-8. doi: 10.1002/ajmg.1320440134. Am J Med Genet. 1992. PMID: 1519642

6

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Aymé S, Saura R, Arveiler B, Lacombe D. Taine L, et al. Among authors: saura r. Am J Med Genet. 1998 Jul 7;78(3):267-70. Am J Med Genet. 1998. PMID: 9677064

7

Donnai-Barrow syndrome: four additional patients.

Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E. Chassaing N, et al. Among authors: saura r. Am J Med Genet A. 2003 Sep 1;121A(3):258-62. doi: 10.1002/ajmg.a.20266. Am J Med Genet A. 2003. PMID: 12923867 Review.

8

De novo inv del(4) in an infant with the Wolf-Hirschhorn syndrome.

Serville F, Saura R, Billeaud C, Girard S, Choiset A, Longy M, Sandler B. Serville F, et al. Among authors: saura r. Ann Genet. 1987;30(3):170-4. Ann Genet. 1987. PMID: 3499855

9

Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.

Reboul MP, Tandonnet O, Biteau N, Belet-de Putter C, Rebouissoux L, Moradkhani K, Vu PY, Saura R, Arveiler B, Lacombe D, Taine L, Iron A. Reboul MP, et al. Among authors: saura r. Clin Genet. 2006 Sep;70(3):207-13. doi: 10.1111/j.1399-0004.2006.00664.x. Clin Genet. 2006. PMID: 16922723

10

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.

Rooryck C, VuPhi Y, Souakri N, Burgelin I, Saura R, Lacombe D, Arveiler B, Taine L. Rooryck C, et al. Among authors: saura r. Eur J Med Genet. 2010 Mar-Apr;53(2):104-7. doi: 10.1016/j.ejmg.2010.01.003. Epub 2010 Feb 2. Eur J Med Genet. 2010. PMID: 20132917

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