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Catherine Ozilou

Catherine Ozilou,Assistance Publique Hôpitaux de Paris,Genetics & Genealogy,Ophthalmology,Pathology

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Catherine Ozilou

Assistance Publique Hôpitaux de Paris

Publications: 15 | Citations: 481

Fields: Genetics & Genealogy, Ophthalmology, Pathology

Collaborated with 145 co-authors from 2000 to 2007 | Cited by 1898 authors

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Publications (15)

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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome (Citations: 119)

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Journal: Nature Genetics - NAT GENET , vol. 39, no. 7, pp. 875-881, 2007

Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome (Citations: 75)

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Journal: American Journal of Human Genetics - AMER J HUM GENET , vol. 81, no. 1, pp. 170-179, 2007

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome (Citations: 74)

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Journal: American Journal of Human Genetics - AMER J HUM GENET , vol. 80, no. 1, pp. 186-194, 2007

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation (Citations: 5)

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Journal: Human Mutation - HUM MUTAT , vol. 28, no. 5, pp. 523-524, 2007

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development (Citations: 50)

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Journal: Journal of Medical Genetics - J MED GENET , vol. 43, no. 3, pp. 211-317, 2006

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Citations (481 times by 338 publications)

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

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Journal: PLOS One , vol. 7, no. 1, 2012

Algorithmic Approach for Methyl-CpG Binding Protein 2 (MECP2) Gene Testing in Patients With Neurodevelopmental Disabilities

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Journal: Journal of Child Neurology - JCN , vol. 27, no. 3, pp. 346-354, 2012

Nephronophthisis (Citations: 5)

Journal: Pediatric Nephrology - PEDIAT NEPHROL , vol. 26, no. 2, pp. 181-194, 2011

Biliary differentiation and bile duct morphogenesis in development and disease (Citations: 8)

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Journal: International Journal of Biochemistry & Cell Biology - INT J BIOCHEM CELL BIOL , vol. 43, no. 2, pp. 245-256, 2011

Adjuvant endocrine therapy plus zoledronic acid in premenopausal women with early-stage breast cancer: 62-month follow-up from the ABCSG-12 randomised trial (Citations: 6)

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Journal: Lancet Oncology - LANCET ONCOL , vol. 12, no. 7, pp. 631-641, 2011

Comments

Co-authors (145)

Journals (9)

Keywords (26)

Catherine Ozilou,Assistance Publique Hôpitaux de Paris,Genetics & Genealogy,Ophthalmology,Pathology

Publications (15)

BibTeX | RIS | RefWorks Download

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome (Citations: 119)

Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome (Citations: 75)

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome (Citations: 74)

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation (Citations: 5)

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development (Citations: 50)

Citations (481 times by 338 publications)

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

Algorithmic Approach for Methyl-CpG Binding Protein 2 (MECP2) Gene Testing in Patients With Neurodevelopmental Disabilities

Nephronophthisis (Citations: 5)

Biliary differentiation and bile duct morphogenesis in development and disease (Citations: 8)

Adjuvant endocrine therapy plus zoledronic acid in premenopausal women with early-stage breast cancer: 62-month follow-up from the ABCSG-12 randomised trial (Citations: 6)


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Co-authors (145)

Journals (9)

Keywords (26)

Catherine Ozilou,Assistance Publique Hôpitaux de Paris,Genetics & Genealogy,Ophthalmology,Pathology

Publications (15) BibTeX | RIS | RefWorks Download

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome (Citations: 119)

Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome (Citations: 75)

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome (Citations: 74)

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation (Citations: 5)

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development (Citations: 50)

Citations (481 times by 338 publications)

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

Algorithmic Approach for Methyl-CpG Binding Protein 2 (MECP2) Gene Testing in Patients With Neurodevelopmental Disabilities

Nephronophthisis (Citations: 5)

Biliary differentiation and bile duct morphogenesis in development and disease (Citations: 8)

Adjuvant endocrine therapy plus zoledronic acid in premenopausal women with early-stage breast cancer: 62-month follow-up from the ABCSG-12 randomised trial (Citations: 6)

Publications (15)

BibTeX | RIS | RefWorks Download