P. Amati

发表

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

C. Beaumont, D. Bonneau, D. Oriot, 1995 .

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

C. Beaumont, D. Bonneau, D. Oriot, 1995, Journal of medical genetics.

Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes.

L. Aggerbeck, P. Amati, V. Abadie, 1999, Arteriosclerosis, thrombosis, and vascular biology.

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

C. Eng, V. Coulon, B. Duboué, 1998, Journal of medical genetics.

Histology of familial thyroid tumours linked to a gene mapping to chromosome 19p13.2

F. Canzian, D. Bonneau, G. Romeo, 1999, The Journal of pathology.

RET rearrangements in papillary thyroid carcinomas and adenomas detected by interphase FISH

N. Berger, F. Basolo, R. Corvi, 2000, Cytogenetic and Genome Research.

Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.

P. Gasparini, M. Carella, D. Bonneau, 1998, Molecular and cellular probes.

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

L. Peltonen, J. Weissenbach, G. Comi, 1996, American journal of human genetics.

Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses.

D. Bonneau, S. Odent, P. Amati, 1999, American journal of medical genetics.

Expression of respiratory chain deficiencies in human cultured cells

T. Bourgeron, A. Munnich, P. Rustin, 1993, Neuromuscular Disorders.

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

D. Schlessinger, M. Rocchi, M. Uda, 2001, Nature Genetics.

An autosomal locus predisposing to deletions of mitochondrial DNA

L. Peltonen, J. Weissenbach, M. Zeviani, 1995, Nature Genetics.

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.

N. Bresolin, M. Zeviani, C. Gellera, 1990, American journal of human genetics.

Splenogonadal fusion limb defect syndrome: report of five new cases and review.

A. Toutain, J. Roume, D. Bonneau, 1999, American journal of medical genetics.

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

N. Bresolin, M. Zeviani, A. Toscano, 1991, American journal of human genetics.

A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23.

P. Gasparini, A. Kitzis, D. Bonneau, 1996, American journal of human genetics.

A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23

A. Kitzis, D. Bonneau, J. Chomel, 1995, Human Genetics.

Searching for genes affecting the structural integrity of the mitochondrial genome.

G. Comi, V. Tiranti, M. Zeviani, 1995, Biochimica et biophysica acta.

Familial papillary carcinoma of the thyroid.

D. Bonneau, P. Amati, M. Bouin-Pineau, 1997, Surgery.

Mapping of a gene predisposing to familial thyroid tumors with cell oxyphilia to chromosome 19 and exclusion of JUN B as a candidate gene.

F. Canzian, D. Bonneau, F. Lesueur, 1999, Surgery.

A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2.

F. Canzian, D. Bonneau, F. Lesueur, 1998, American journal of human genetics.

Mitochondrial myopathies

M. Zeviani, A. Savoia, P. Amati, 1994, Annals of neurology.

A YAC Contig Spanning the Blepharophimosis-Ptosis-Epicanthus inversus Syndrome and Propionic Acidemia Loci

J. Rommens, P. Gasparini, A. Cao, 1997, European journal of human genetics : EJHG.