Lekbir Baala
Affiliations: | 2005-2007 | INSERM U393, Paris, France |
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Parents
Sign in to add mentor| Heather C. Etchevers | post-doc | 2005-2007 | INSERM U393, Paris, France | |
| (Also with Pr Stanislas Lyonnet) | ||||
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Publications
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| Chafai-Elalaoui S, Chalon M, Elkhartoufi N, et al. (2015) A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report. Journal of Medical Case Reports. 9: 254 |
| Chafai-Elalaoui S, Chalon M, Elkhartoufi N, et al. (2015) A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: A case report Journal of Medical Case Reports. 9 |
| Perche O, Laumonnier F, Baala L, et al. (2010) Autisme, génétique et anomalies de la fonction synaptique Pathologie Biologie. 58: 381-386 |
| Crétolle C, Pelet A, Sanlaville D, et al. (2008) Spectrum of HLXB9 Gene Mutations in Currarino Syndrome and Genotype-Phenotype Correlation Human Mutation. 29: 903-910 |
| Baala L, Audollent S, Martinovic J, et al. (2007) Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. American Journal of Human Genetics. 81: 170-9 |
| Delous M, Baala L, Salomon R, et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nature Genetics. 39: 875-81 |
| Khaddour R, Smith U, Baala L, et al. (2007) Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Human Mutation. 28: 523-4 |
| Bal E, Baala L, Cluzeau C, et al. (2007) Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Human Mutation. 28: 703-9 |
| Baala L, Briault S, Etchevers HC, et al. (2007) Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nature Genetics. 39: 454-6 |
| Baala L, Romano S, Khaddour R, et al. (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. American Journal of Human Genetics. 80: 186-94 |