Concepedia

Lekbir Baala

LB

10

Publications

2K

Citations

10

H-Index

2002

Active since

Affiliations

Hôpital Necker-Enfants Malades(Current)

Inserm

Université Paris Cité

Assistance Publique – Hôpitaux de Paris

Institut National d'Hygiène du Maroc

Lekbir Baala is an author at Hôpital Necker-Enfants Malades specializing in medicine, genetics, and molecular genetics.

Top concepts

MedicineGeneticsMolecular GeneticsDevelopmental BiologyPathologyEpigeneticsPathogenesisClinical GeneticsMolecular BiologyTranscriptional Regulation

Publications per year

2002–2015

10

Publications

10

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous, Lekbir Baala, Rémi Salomon et al. · Nature Genetics · 2007 · 489 citations

Cerebello-oculo-renal Syndrome, Ciliary Gene Rpgrip1l, Developmental Biology +9

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

S. Hadj‐Rabia, Lekbir Baala, P. Vabres et al. · Gastroenterology · 2004 · 411 citations · Full text

Claudin-1 Gene Mutations, Genetics, Pathogenesis +6

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jelena Martinović et al. · The American Journal of Human Genetics · 2007 · 280 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +7

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Lekbir Baala, Stéphane Romano, Rana Khaddour et al. · The American Journal of Human Genetics · 2006 · 235 citations · Full text

Developmental Biology, Mendelian Disorder, Joubert Syndrome +9

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

Lekbir Baala, Sylvain Briault, Heather Etchevers et al. · Nature Genetics · 2007 · 199 citations

Transcriptional Regulation, Developmental Biology, Ependyma +9

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