| Year |
Citation |
Score |
| 2015 |
Chafai-Elalaoui S, Chalon M, Elkhartoufi N, Kriouele Y, Mansouri M, Attié-Bitach T, Sefiani A, Baala L. 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. PMID 26541515 DOI: 10.1186/S13256-015-0732-3 |
0.538 |
|
| 2015 |
Chafai-Elalaoui S, Chalon M, Elkhartoufi N, Kriouele Y, Mansouri M, Attié-Bitach T, Sefiani A, Baala L. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: A case report Journal of Medical Case Reports. 9. DOI: 10.1186/s13256-015-0732-3 |
0.508 |
|
| 2010 |
Perche O, Laumonnier F, Baala L, Ardourel M-, Menuet A, Robin V, Mortaud S, Montécot-dubourg C, Richard O, Pichon J, Briault S. Autisme, génétique et anomalies de la fonction synaptique Pathologie Biologie. 58: 381-386. PMID 20181440 DOI: 10.1016/J.Patbio.2009.12.005 |
0.321 |
|
| 2008 |
Crétolle C, Pelet A, Sanlaville D, Zérah M, Amiel J, Jaubert F, Révillon Y, Baala L, Munnich A, Nihoul-Fékété C, Lyonnet S. Spectrum of HLXB9 Gene Mutations in Currarino Syndrome and Genotype-Phenotype Correlation Human Mutation. 29: 903-910. PMID 18449898 DOI: 10.1002/Humu.20718 |
0.635 |
|
| 2007 |
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. American Journal of Human Genetics. 81: 170-9. PMID 17564974 DOI: 10.1086/519494 |
0.693 |
|
| 2007 |
Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nature Genetics. 39: 875-81. PMID 17558409 DOI: 10.1038/Ng2039 |
0.649 |
|
| 2007 |
Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, et al. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Human Mutation. 28: 523-4. PMID 17397051 DOI: 10.1002/Humu.9489 |
0.675 |
|
| 2007 |
Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Human Mutation. 28: 703-9. PMID 17354266 DOI: 10.1002/Humu.20500 |
0.568 |
|
| 2007 |
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. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nature Genetics. 39: 454-6. PMID 17353897 DOI: 10.1038/Ng1993 |
0.628 |
|
| 2007 |
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, et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. American Journal of Human Genetics. 80: 186-94. PMID 17160906 DOI: 10.1086/510499 |
0.7 |
|
| 2005 |
Lossos A, Baala L, Soffer D, Averbuch-Heller L, Dotan S, Munnich A, Lyonnet S, Gomori JM, Genem A, Neufeld M, Abramsky O, Zlotogora J, Argov Z. A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. Brain : a Journal of Neurology. 128: 42-51. PMID 15548556 DOI: 10.1093/Brain/Awh338 |
0.581 |
|
| 2004 |
Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, Smahi A. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology. 127: 1386-90. PMID 15521008 DOI: 10.1053/J.Gastro.2004.07.022 |
0.676 |
|
| 2002 |
Baala L, Hadj-Rabia S, Hamel-Teillac D, Hadchouel M, Prost C, Leal SM, Jacquemin E, Sefiani A, De Prost Y, Courtois G, Munnich A, Lyonnet S, Vabres P. Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. The Journal of Investigative Dermatology. 119: 70-6. PMID 12164927 DOI: 10.1046/J.1523-1747.2002.01809.X |
0.634 |
|
| 1999 |
Baala L, Rabia SH, Zlotogora J, Kabbaj K, Chhoul H, Munnich A, Lyonnet S, Sefiani A. Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. American Journal of Human Genetics. 64: 651-653. PMID 9973304 DOI: 10.1086/302239 |
0.525 |
|
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