L. Castelnau

发表

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

E. Bertini, A. Durr, P. Billuart, 2005, Neurology.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

L. Lagae, L. Hertz-Pannier, F. Rivier, 2008, Journal of Medical Genetics.

Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium

J. Gécz, B. D. de Vries, S. Lenzner, 2007, Human mutation.

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

J. Chelly, T. Bienvenu, L. B. Jemaa, 2008, European Journal of Human Genetics.

First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy.

F. Thépot, L. Poenaru, L. Castelnau, 1984, American journal of human genetics.

Prenatal diagnosis of atypical tay‐sachs disease by chorionic villi sampling

L. Poenaru, L. Castelnau, Y. Dumez, 1984, Prenatal diagnosis.

Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy

L. Poenaru, L. Castelnau, Y. Dumez, 1985, Clinical genetics.

A variant of mucolipidosis

F. Tomé, J. Boué, P. Maroteaux, 1988, European Journal of Pediatrics.

II. Clinical, biochemical and pathological investigations

J. Boué, L. Castelnau, 1988 .

[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].

N. Boddaert, J. Chelly, P. Plouin, 2008, Revue neurologique.

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

H. Ropers, J. Fryns, J. Chelly, 2010, neurogenetics.

First Trimester Prenatal Diagnosis of Metabolic Diseases

F. Thépot, J. Boué, L. Poenaru, 1985 .

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

D. Bonthron, M. Porteous, J. Chelly, 2007, Journal of Medical Genetics.

Msp1 RFLP in the human hexosaminidase beta peptide (Hex B) gene.

A. Kahn, L. Poenaru, L. Castelnau, 1989, Nucleic acids research.

Lysosomal hydrolase activity in chorionic villi and embryonic cells in culture

F. Thépot, L. Poenaru, L. Castelnau, 2004, Human Genetics.

[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].

N. Bahi-Buisson, P. Léger, N. Boddaert, 2008, Revue neurologique.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

L. Lagae, L. Hertz-Pannier, F. Rivier, 2008, Journal of Medical Genetics.