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P Amati

Research Profile

Disorders

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Laura Crisponi; Manila Deiana; A Loi; Francesca Chiappe; Manuela Uda; P Amati; Luigi Bisceglia; Leopoldo Zelante; Ramaiah Nagaraja; Susanna Porcu; Maria Serafina Ristaldi; R Marzella; Mariano Rocchi; M Nicolino; A Lienhardt-Roussie; A Nivelon; Alain Verloes; David Schlessinger; Paolo Gasparini; Dominique Bonneau; Antonio Cao; Giuseppe Pilia
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Jean-Louis Kraimps; Federico Canzian; C Jost; Emmanuelle Menet; P Amati; P Levillian; R Harach; Fabienne LESUEUR; Jacques Barbier; Giovanni Romeo; Dominique Bonneau
Mapping of a gene predisposing to familial thyroid tumors with cell oxyphilia to chromosome 19 and exclusion of JUN B as a candidate gene.
HR Harach; Fabienne LESUEUR; P Amati; A Brown; Federico Canzian; Jean-Louis Kraimps; Pierre Levillain; Emmanuelle Menet; Giovanni Romeo; Dominique Bonneau
Histology of familial thyroid tumours linked to a gene mapping to chromosome 19p13.2.

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All Publications

2001: Laura Crisponi; Manila Deiana; A Loi; Francesca Chiappe; Manuela Uda; P Amati; Luigi Bisceglia; Leopoldo Zelante; Ramaiah Nagaraja; Susanna Porcu; Maria Serafina Ristaldi; R Marzella; Mariano Rocchi; M Nicolino; A Lienhardt-Roussie; A Nivelon; Alain Verloes; David Schlessinger; Paolo Gasparini; Dominique Bonneau; Antonio Cao; Giuseppe Pilia
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Nature genetics 2001;27(2):159-66.
1999: Jean-Louis Kraimps; Federico Canzian; C Jost; Emmanuelle Menet; P Amati; P Levillian; R Harach; Fabienne LESUEUR; Jacques Barbier; Giovanni Romeo; Dominique Bonneau
Mapping of a gene predisposing to familial thyroid tumors with cell oxyphilia to chromosome 19 and exclusion of JUN B as a candidate gene.
Surgery 1999;126(6):1188-94.
1999: HR Harach; Fabienne LESUEUR; P Amati; A Brown; Federico Canzian; Jean-Louis Kraimps; Pierre Levillain; Emmanuelle Menet; Giovanni Romeo; Dominique Bonneau
Histology of familial thyroid tumours linked to a gene mapping to chromosome 19p13.2.
The Journal of pathology 1999;189(3):387-93.
1999: Dominique Bonneau; Joelle Roume; M Gonzalez; Annick Toutain; D Carles; M Maréchaud; Valérie Biran-Mucignat; P Amati; C Moraine
Splenogonadal fusion limb defect syndrome: report of five new cases and review.
American journal of medical genetics 1999;86(4):347-58.
1999: Dominique Bonneau; M Maréchaud; S Odent; I Piegay; A Godard; P Amati
Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses.
American journal of medical genetics 1999;84(4):373-6.
1998: Federico Canzian; P Amati; HR Harach; Jean-Louis Kraimps; Fabienne LESUEUR; Jacques Barbier; Pierre Levillain; Giovanni Romeo; Dominique Bonneau
A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2.
American journal of human genetics 1998;63(6):1743-8.
1998: Michel Longy; V Coulon; B Duboué; A David; Marc Larrègue; Charis Eng; P Amati; Jean-Louis Kraimps; A Bottani; D Lacombe; Dominique Bonneau
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
Journal of medical genetics 1998;35(11):886-9.
1998: Luigi Bisceglia; L D'Ambrosio; Maria Rosaria Piemontese; Massimo Carella; P Amati; Dominique Bonneau; Giuseppe Pilia; Paolo Gasparini; Leopoldo Zelante
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.
Molecular and cellular probes 1998;12(4):255-8.
1997: Jean-Louis Kraimps; MH Bouin-Pineau; P Amati; Denis Mothes; Dominique Bonneau; Richard Maréchaud; Jacques Barbier
Familial papillary carcinoma of the thyroid.
Surgery 1997;121(6):715-8.
1997: Maria Rosaria Piemontese; E Memeo; Massimo Carella; P Amati; J C Chomel; Dominique Bonneau; Giuseppe Pilia; Antonio Cao; Harry A Drabkin; Robert M Gemmill; JM Rommens; Leopoldo Zelante; Paolo Gasparini; Luigi Bisceglia
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.
European journal of human genetics : EJHG 1997;5(3):171-4.
1996: P Amati; Paolo Gasparini; J Zlotogora; Leopoldo Zelante; Jean-Claude Chomel; Alain Kitzis; J Kaplan; Dominique Bonneau
A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23.
American journal of human genetics 1996;58(5):1089-92.
1995: P Amati; Jean-Claude Chomel; A Nivelon-Chevalier; S Gilgenkrantz; Alain Kitzis; J Kaplan; Dominique Bonneau
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.
Human genetics 1995;96(2):213-5.