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stefano gambardella

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Chiara Conte; Maria Rosaria D'Apice; stefano gambardella; Fabrizio Rinaldi; Federica Sangiuolo; Giuseppe Novelli
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
Carlo Corradini; Francesca Gullotta; Silvia Ciacci; Giampiero Palmieri; Leila Baghernajad Salehi; Eugenio De Corso; Giuseppe Novelli; stefano gambardella
Hyperproliferation in nasal polyposis tissues is not associated with somatic genomic instability.
stefano gambardella
Gene symbol: ED1. Disease: X-linked anhidrotic ectodermal dysplasia.

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All Publications

2011: Chiara Conte; Maria Rosaria D'Apice; stefano gambardella; Fabrizio Rinaldi; Federica Sangiuolo; Giuseppe Novelli
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
BMC medical genetics 2011;12():125.
2008: Carlo Corradini; Francesca Gullotta; Silvia Ciacci; Giampiero Palmieri; Leila Baghernajad Salehi; Eugenio De Corso; Giuseppe Novelli; stefano gambardella
Hyperproliferation in nasal polyposis tissues is not associated with somatic genomic instability.
Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale 2008;37(4):510-4.
2008: stefano gambardella
Gene symbol: ED1. Disease: X-linked anhidrotic ectodermal dysplasia.
Human genetics 2008;123(1):104.
2008: stefano gambardella
Gene symbol: ED1. Disease: Ectodermal dysplasia.
Human genetics 2008;123(1):103.
2008: stefano gambardella
Gene symbol: ED1. Disease: Ectodermal dysplasia.
Human genetics 2008;123(1):102.
2008: stefano gambardella
Gene symbol: ED1. Disease: Ectodermal dysplasia.
Human genetics 2008;123(1):101.
2007: Vanina Santini; Giuseppina Ciampittiello; Fabrizio Gigli; Daniela Bracaglia; Alessandra Baroni; Elena Cicconetti; Cristian Verri; stefano gambardella; Simona Frontoni
QTc and autonomic neuropathy in diabetes: effects of acute hyperglycaemia and n-3 PUFA.
Nutrition, metabolism, and cardiovascular diseases : NMCD 2007;17(10):712-8.
2007: Maria Domenica Guarino; Perricone Carlo; Sabina Guarino; stefano gambardella; Maria Rosaria D'Apice; Luigi Fontana; Giuseppe Novelli; Roberto Perricone
Denaturing HPLC in laboratory diagnosis of hereditary angioedema.
The Journal of allergy and clinical immunology 2007;120(4):962-5.
2007: Annalisa Botta; Laura Vallo; Fabrizio Rinaldi; Emanuela Bonifazi; Francesca Amati; Michela Biancolella; stefano gambardella; Enzo Mancinelli; Corrado Angelini; Giovanni Meola; Giuseppe Novelli
Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.
Gene expression 2007;13(6):339-51.
2006: stefano gambardella; Michela Biancolella; Maria Rosaria D'Apice; Francesca Amati; Federica Sangiuolo; Alessio Farcomeni; Giovanni Chillemi; Susana Bueno; Alessandro Desideri; Giuseppe Novelli
Gene expression profile study in CFTR mutated bronchial cell lines.
Clinical and experimental medicine 2006;6(4):157-65.
2006: S Guarino; Perricone Carlo; M D Guarino; Emiliano Giardina; stefano gambardella; M Rosaria D'Apice; C Bulli; Roberto Perricone; Giuseppe Novelli
Gonadal mosaicism in hereditary angioedema.
Clinical genetics 2006;70(1):83-5.
2004: Maria Rosaria D'Apice; stefano gambardella; Silvia Russo; Vincenzina Lucidi; Anna Maria Nardone; Adalgisa Pietropolli; Giuseppe Novelli
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism.
Prenatal diagnosis 2004;24(12):981-3.
2004: Federica Sangiuolo; Maria Rosaria D'Apice; stefano gambardella; Nicola Di Daniele; Giuseppe Novelli
Toward the pharmacogenomics of cystic fibrosis--an update.
Pharmacogenomics 2004;5(7):861-78.
2004: Maria Rosaria D'Apice; stefano gambardella; Mario Bengala; Silvia Russo; Anna Maria Nardone; Vincenzina Lucidi; Federica Sangiuolo; Giuseppe Novelli
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
BMC medical genetics 2004;5():8.
2004: Francesca Amati; Michela Biancolella; Maria Rosaria D'Apice; stefano gambardella; Ruggiero Mango; Paolo Sbraccia; Monica D'Adamo; Katia Margiotti; Anna Maria Nardone; Marc Lewis; Giuseppe Novelli
Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays.
Gene expression 2004;12(1):39-47.
2003: Maria Adelaide Marini; Simona Frontoni; Davide Mineo; Daniela Bracaglia; Marina Cardellini; Pierluigi De Nicolais; Alessandra Baroni; Rossella D'Alfonso; Michela Perna; Davide Lauro; Massimo Federici; stefano gambardella; Renato Lauro; Giorgio Sesti
The Arg972 variant in insulin receptor substrate-1 is associated with an atherogenic profile in offspring of type 2 diabetic patients.
The Journal of clinical endocrinology and metabolism 2003;88(7):3368-71.
2003: Simona Frontoni; Daniela Bracaglia; Alessandra Baroni; Fabio Pellegrini; Michela Perna; Elena Cicconetti; Giuseppina Ciampittiello; Guido Menzinger; stefano gambardella
Early autonomic dysfunction in glucose-tolerant but insulin-resistant offspring of type 2 diabetic patients.
Hypertension 2003;41(6):1223-7.
2003: Giorgio Sesti; Marina Cardellini; Maria Adelaide Marini; Simona Frontoni; Monica D'Adamo; SILVIA DEL GUERRA; Davide Lauro; Pierluigi De Nicolais; Paolo Sbraccia; Stefano Del Prato; stefano gambardella; Massimo Federici; Piero Marchetti; Renato Lauro
A common polymorphism in the promoter of UCP2 contributes to the variation in insulin secretion in glucose-tolerant subjects.
Diabetes 2003;52(5):1280-3.
2003: Rossella D'Alfonso; Maria Adelaide Marini; Lucia Frittitta; Roberto Sorge; Simona Frontoni; Ottavia Porzio; Luisa Marina Mariani; Davide Lauro; stefano gambardella; Vincenzo Trischitta; Massimo Federici; Renato Lauro; Giorgio Sesti
Polymorphisms of the insulin receptor substrate-2 in patients with type 2 diabetes.
The Journal of clinical endocrinology and metabolism 2003;88(1):317-22.
2000: Alessandro Giordano; Maria Lucia Calcagni; A Verrillo; M Pellegrinotti; Simona Frontoni; V Spallone; stefano gambardella
Assessment of sympathetic innervation of the heart in diabetes mellitus using 123I-MIBG.
Diabetes, nutrition & metabolism 2000;13(6):350-5.