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A Buoninconti

Research Profile

Disorders

Chemicals & Drugs

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Italy

Concepts & Ideas

Molecular Sequence Data

Physiology

Genes & Molecular Sequences

Amino Acid Sequences

Procedures

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Founder Effect

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Yeast Artificial Chromosomes

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Publications

TOP 3
Luigi Titomanlio; Daniele De Brasi; A Buoninconti; Maria Pia Sperandeo; A Pepe; Generoso Andria; Gianfranco Sebastio
Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
Maria Pia Sperandeo; Maria Teresa Bassi; M Riboni; Giancarlo Parenti; A Buoninconti; Marta Manzoni; B Incerti; M R Larocca; Maja Di Rocco; Pietro Strisciuglio; Irma Dianzani; Rossella Parini; M Candito; F Endo; Andrea Ballabio; Generoso Andria; Gianfranco Sebastio; Giuseppe Borsani
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
Maria Teresa Bassi; Maria Pia Sperandeo; B Incerti; Alessandro Bulfone; A Pepe; Enrico M Surace; C Gattuso; A De Grandi; A Buoninconti; M Riboni; Marta Manzoni; Generoso Andria; Andrea Ballabio; Giuseppe Borsani; Gianfranco Sebastio
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.

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All Publications

2004: Luigi Titomanlio; Daniele De Brasi; A Buoninconti; Maria Pia Sperandeo; A Pepe; Generoso Andria; Gianfranco Sebastio
Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
Clinical genetics 2004;65(2):156-7.
2000: Maria Pia Sperandeo; Maria Teresa Bassi; M Riboni; Giancarlo Parenti; A Buoninconti; Marta Manzoni; B Incerti; M R Larocca; Maja Di Rocco; Pietro Strisciuglio; Irma Dianzani; Rossella Parini; M Candito; F Endo; Andrea Ballabio; Generoso Andria; Gianfranco Sebastio; Giuseppe Borsani
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
American journal of human genetics 2000;66(1):92-9.
1999: Maria Teresa Bassi; Maria Pia Sperandeo; B Incerti; Alessandro Bulfone; A Pepe; Enrico M Surace; C Gattuso; A De Grandi; A Buoninconti; M Riboni; Marta Manzoni; Generoso Andria; Andrea Ballabio; Giuseppe Borsani; Gianfranco Sebastio
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.
Genomics 1999;62(2):297-303.
1999: Maria Pia Sperandeo; A Buoninconti; Annalisa Passariello; Iris Scala; A Adami; T Lauteala; Juha Mykkänen; Generoso Andria; Gianfranco Sebastio
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report.
Prenatal diagnosis 1999;19(8):771-3.
1999: Giuseppe Borsani; Maria Teresa Bassi; Maria Pia Sperandeo; A De Grandi; A Buoninconti; M Riboni; Marta Manzoni; B Incerti; A Pepe; Generoso Andria; Andrea Ballabio; Gianfranco Sebastio
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
Nature genetics 1999;21(3):297-301.
1998: Raffaella de Franchis; A Buoninconti; Claudia Mandato; Antonio Pepe; Maria Pia Sperandeo; Roberto Del Gado; Valeria Capra; Elio Salvaggio; Generoso Andria; Pierpaolo Mastroiacovo
The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.
Journal of medical genetics 1998;35(12):1009-13.