Boddaert N - Search Results

1

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T. Baala L, et al. Among authors: boddaert n. Am J Hum Genet. 2007 Jan;80(1):186-94. doi: 10.1086/510499. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160906 Free PMC article.

2

Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome.

Boddaert N, De Leersnyder H, Bourgeois M, Munnich A, Brunelle F, Zilbovicius M. Boddaert N, et al. Neuroimage. 2004 Mar;21(3):1021-5. doi: 10.1016/j.neuroimage.2003.10.040. Neuroimage. 2004. PMID: 15006669

3

[Congenital hyperinsulinism in newborn and infant].

Giurgea I, Ribeiro MJ, Boddaert N, Touati G, Robert JJ, Saudubray JM, Jaubert F, Bellanné-Chantelot C, Brunelle F, Nihoul-Fékété C, de Lonlay P. Giurgea I, et al. Among authors: boddaert n. Arch Pediatr. 2005 Nov;12(11):1628-35. doi: 10.1016/j.arcped.2005.07.016. Epub 2005 Sep 28. Arch Pediatr. 2005. PMID: 16198094 Review. French.

4

[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism].

Boddaert N, Ribeiro M, Touati G, Mention K, Valayanopoulos V, Nihoul-Fékété C, Brunelle F, de Lonlay P. Boddaert N, et al. Med Sci (Paris). 2005 Nov;21(11):981-6. doi: 10.1051/medsci/20052111981. Med Sci (Paris). 2005. PMID: 16274650 Free article. Review. French.

5

Parieto-occipital grey matter abnormalities in children with Williams syndrome.

Boddaert N, Mochel F, Meresse I, Seidenwurm D, Cachia A, Brunelle F, Lyonnet S, Zilbovicius M. Boddaert N, et al. Neuroimage. 2006 Apr 15;30(3):721-5. doi: 10.1016/j.neuroimage.2005.10.051. Epub 2005 Dec 27. Neuroimage. 2006. PMID: 16380272

6

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.

Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Barnérias C, et al. Among authors: boddaert n. Dev Med Child Neurol. 2006 Mar;48(3):227-30. doi: 10.1017/S001216220600048X. Dev Med Child Neurol. 2006. PMID: 16483401 Free article.

7

Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

Romano S, Boddaert N, Desguerre I, Hubert L, Salomon R, Seidenwurm D, Bahi-Buisson N, Nabbout R, Sonigo P, Lyonnet S, Brunelle F, Munnich A, de Lonlay P. Romano S, et al. Among authors: boddaert n. Neuropediatrics. 2006 Feb;37(1):42-5. doi: 10.1055/s-2006-923838. Neuropediatrics. 2006. PMID: 16541367

8

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.

Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Attié-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S. Baala L, et al. Among authors: boddaert n. Nat Genet. 2007 Apr;39(4):454-6. doi: 10.1038/ng1993. Epub 2007 Mar 11. Nat Genet. 2007. PMID: 17353897

9

Selective iron chelation in Friedreich ataxia: biologic and clinical implications.

Boddaert N, Le Quan Sang KH, Rötig A, Leroy-Willig A, Gallet S, Brunelle F, Sidi D, Thalabard JC, Munnich A, Cabantchik ZI. Boddaert N, et al. Blood. 2007 Jul 1;110(1):401-8. doi: 10.1182/blood-2006-12-065433. Epub 2007 Mar 22. Blood. 2007. PMID: 17379741 Free article. Clinical Trial.

10

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.

Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S. Tory K, et al. Among authors: boddaert n. J Am Soc Nephrol. 2007 May;18(5):1566-75. doi: 10.1681/ASN.2006101164. Epub 2007 Apr 4. J Am Soc Nephrol. 2007. PMID: 17409309

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