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Generoso Andria

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D Melis; R Della Casa; R Parini; M Rigoldi; C Cacciapuoti; P Marcolongo; A Benedetti; V Gaudieri; Generoso Andria; G Parenti
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.
Giuseppe Limongelli; Giuseppe Pacileo; Daniela Melis; Paolo Calabro'; Maria Cristina Digilio; Anna Sarkozy; Valeria Maddaloni; Giovanbattista Capozzi; Gianfranco Sebastio; Generoso Andria; Raffaele Calabro'
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman.
Maria Pia Sperandeo; Generoso Andria; Gianfranco Sebastio
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

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All Publications

2009: D Melis; R Della Casa; R Parini; M Rigoldi; C Cacciapuoti; P Marcolongo; A Benedetti; V Gaudieri; Generoso Andria; G Parenti
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.
European journal of pediatrics 2009;168(9):1069-74.
2008: Giuseppe Limongelli; Giuseppe Pacileo; Daniela Melis; Paolo Calabro'; Maria Cristina Digilio; Anna Sarkozy; Valeria Maddaloni; Giovanbattista Capozzi; Gianfranco Sebastio; Generoso Andria; Raffaele Calabro'
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman.
American journal of medical genetics. Part A 2008;146(3):327-9.
2008: Maria Pia Sperandeo; Generoso Andria; Gianfranco Sebastio
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
Human mutation 2008;29(1):14-21.
2007: Massimiliano Rossi; Maria D'Armiento; Ida Parisi; Paola Ferrari; Christine M Hall; Mariarosaria Cervasio; Francesco Rivasi; Fiorella Balli; Raffaella Vecchione; Gaetano Corso; Generoso Andria; Giancarlo Parenti
Clinical phenotype of lathosterolosis.
American journal of medical genetics. Part A 2007;143A(20):2371-81.
2007: Patrizia Galletti; Maria Luigia De Bonis; Alvara Sorrentino; Marianna Raimo; Stefania D'Angelo; Iris Scala; Generoso Andria; Antimo D'Aniello; Diego Ingrosso; Vincenzo Zappia
Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome.
The FEBS journal 2007;274(20):5263-77.
2007: Francesca Santamaria; Michele Andreucci; Giancarlo Parenti; M Polverino; Davide Viggiano; Silvia Montella; Antonio Cesaro; R Ciccarelli; Brunella Capaldo; Generoso Andria
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings.
Journal of inherited metabolic disease 2007;30(5):743-9.
2007: Fortunato Lonardo; Giancarlo Parenti; Daniela Varela Luquetti; Ida Annunziata; Matteo Della Monica; Lucia Perone; Manuela De Gregori; Orsetta Zuffardi; Nicola Brunetti-Pierri; Generoso Andria; Gioacchino Scarano
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
European journal of medical genetics 2007;50(4):301-8.
2007: Maria Pia Sperandeo; Patrizia Annunziata; Andrea Bozzato; Pasquale Piccolo; Luigi Maiuri; Maria D'Armiento; Andrea Ballabio; Gaetano Corso; Generoso Andria; Giuseppe Borsani; Gianfranco Sebastio
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
American journal of physiology. Cell physiology 2007;293(1):C191-8.
2007: Massimiliano Rossi; Giancarlo Parenti; Roberto Della Casa; Alfonso Romano; Giuseppina Mansi; Teresa Agovino; Felice Rosapepe; Carlo Vosa; Emanuele Miraglia del Giudice; Generoso Andria
Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.
Journal of child neurology 2007;22(5):565-73.
2007: Iris Scala; Barbara Granese; Alessandra Lisi; Pierpaolo Mastroiacovo; Generoso Andria
Re: folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women.
American journal of medical genetics. Part A 2007;143A(9):1015-7; discussion 1018-9.
2007: Y Paul Goldberg; Julie MacFarlane; Marcia L E MacDonald; Jay Thompson; M-P Dube; M Mattice; R Fraser; Clint Young; S Hossain; T Pape; B Payne; Christopher C Radomski; G Donaldson; E Ives; J Cox; H Banfield Younghusband; Roger C Green; A Duff; E Boltshauser; G A Grinspan; J H Dimon; B G Sibley; Generoso Andria; Ennio Toscano; J Kerdraon; D Bowsher; Simon N Pimstone; Mark E Samuels; R Sherrington; Michael R Hayden
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Clinical genetics 2007;71(4):311-9.
2007: Daniela Melis; Rosario Pivonello; Giancarlo Parenti; Roberto Della Casa; Mariacarolina Salerno; Gaetano Lombardi; Gianfranco Sebastio; Annamaria Colao; Generoso Andria
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I.
The Journal of pediatrics 2007;150(3):300-5, 305.e1.
2007: Giancarlo Parenti; Alfredo Zuppaldi; M Gabriela Pittis; M Rosaria Tuzzi; Ida Annunziata; Germana Meroni; Caterina Porto; Francesca Donaudy; Barbara Rossi; Massimiliano Rossi; Mirella Filocamo; Alice Donati; Bruno Bembi; Andrea Ballabio; Generoso Andria
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
Molecular therapy : the journal of the American Society of Gene Therapy 2007;15(3):508-14.
2007: Petr Vyletal; Jitka Sokolová; David N Cooper; Jan P Kraus; Michael Krawczak; Guglielmina Pepe; Olga Rickards; Hans Georg Koch; Michael Linnebank; Leo A J Kluijtmans; Henk J Blom; Godfried H J Boers; Mette Gaustadnes; Flemming Skovby; Bridget Wilcken; David E L Wilcken; Generoso Andria; Gianfranco Sebastio; Eileen Naughten; Sufin Yap; Toshihiro Ohura; Ewa Pronicka; Aranka Laszlo; Viktor Kozich
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Human mutation 2007;28(3):255-64.
2006: Iris Scala; Barbara Granese; Maria Sellitto; Serena Salomè; Annalidia Sammartino; Antonio Pepe; Pierpaolo Mastroiacovo; Gianfranco Sebastio; Generoso Andria
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(7):409-16.
2006: Guglielmo R D Villani; Gianfranco Pontarelli; G Kotroni; Giancarlo Parenti; Michelina Sibilio; Generoso Andria; Paola Di Natale
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome).
Human genetics 2006;119(6):682.
2006: Simona Fecarotta; Giancarlo Parenti; Pietro Vajro; Alfredo Zuppaldi; Roberto Della Casa; M T Carbone; Antonio Correra; G Torre; S Riva; Carlo Dionisi Vici; Filippo M Santorelli; Generoso Andria
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
Journal of inherited metabolic disease 2006;29(1):186-9.
2006: Daniela Melis; Maria Pia Sperandeo; Lucia Perone; Annamaria Staiano; Generoso Andria; Gianfranco Sebastio
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins.
Clinical dysmorphology 2006;15(1):13-8.
2005: Daniela Melis; Rosella Fulceri; Giancarlo Parenti; Paola Marcolongo; Rosanna Gatti; Rossella Parini; Enrica Riva; Roberto Della Casa; Enrico Zammarchi; Generoso Andria; Angelo Benedetti
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
European journal of pediatrics 2005;164(8):501-8.
2005: Daniela Melis; Giancarlo Parenti; Rosanna Gatti; R Della Casa; Rossella Parini; E Riva; Alberto Burlina; C Dionisi Vici; Maja Di Rocco; Francesca Furlan; M Torcoletti; F Papadia; A Donati; V Benigno; Generoso Andria
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.
Clinical endocrinology 2005;63(1):19-25.
2005: Maria Pia Sperandeo; Simona Paladino; Luigi Maiuri; George D Maroupulos; Chiara Zurzolo; Maurizio Taglialatela; Generoso Andria; Gianfranco Sebastio
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
European journal of human genetics : EJHG 2005;13(5):628-34.
2005: Generoso Andria; Iris Scala; Gianfranco Sebastio
Health implications of homocysteine and folates: possible preventive measures.
Nutrition, metabolism, and cardiovascular diseases : NMCD 2005;15(2):87-93.
2005: Maria Pia Sperandeo; Patrizia Annunziata; Virginia Ammendola; Valentina Fiorito; Antonio Pepe; Maria Virginia Soldovieri; Maurizio Taglialatela; Generoso Andria; Gianfranco Sebastio
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
Human mutation 2005;25(4):410.
2005: Anna Perretti; Giancarlo Parenti; Pietro Balbi; Luigi Titomanlio; Lucia Marcantonio; Mariangela Iapoce; Anna Rita Frascogna; Generoso Andria; Lucio Santoro
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease.
Journal of child neurology 2005;20(2):124-8.
2005: Massimiliano Rossi; Pietro Vajro; Raffaele Iorio; Antonella Battagliese; Nicola Brunetti-Pierri; Gaetano Corso; Maja Di Rocco; Paola Ferrari; Francesco Rivasi; Raffaella Vecchione; Generoso Andria; Giancarlo Parenti
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.
American journal of medical genetics. Part A 2005;132A(2):144-51.
2005: Massimiliano Rossi; G Federico; Gaetano Corso; Giancarlo Parenti; Antonella Battagliese; A R Frascogna; Roberto Della Casa; A Dello Russo; Pietro Strisciuglio; G Saggese; Generoso Andria
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome.
Journal of inherited metabolic disease 2005;28(1):69-80.
2005: Massimiliano Rossi; Daniele De Brasi; Christine M Hall; Antonella Battagliese; Daniela Melis; Gianfranco Sebastio; Generoso Andria
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
Clinical dysmorphology 2005;14(1):13-8.
2004: Neal J Weinreb; Mario C Aggio; Hans Andersson; Generoso Andria; Joel Charrow; Joe T R Clarke; Anders Erikson; Pilar Giraldo; Jack Goldblatt; Carla E M Hollak; Hiroyuki Ida; Paige Kaplan; Edwin H Kolodny; Pramod Mistry; Gregory M Pastores; Ricardo Pires; Ainu Prakash-Cheng; Ainu Prakesh-Cheng; Barry E Rosenbloom; C Ronald Scott; Elisa Sobreira; Anna Tylki-Szymańska; Ashok Vellodi; Stephan vom Dahl; Rebecca S Wappner; Ari Zimran
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
Seminars in hematology 2004;41(4 Suppl 5):15-22.
2004: Gregory M Pastores; Neal J Weinreb; johannes aerts; Generoso Andria; Timothy M Cox; Manuel Giralt; Gregory A Grabowski; Pramod Mistry; Anna Tylki-Szymańska
Therapeutic goals in the treatment of Gaucher disease.
Seminars in hematology 2004;41(4 Suppl 5):4-14.
2004: Francesca Santamaria; Gianluca Brancaccio; Giancarlo Parenti; Paola Francalanci; Cosimo Squitieri; Gianfranco Sebastio; Carlo Dionisi Vici; Patrizia D'argenio; Generoso Andria; Francesco Parisi
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.
The Journal of pediatrics 2004;145(2):268-72.
2004: Daniela Melis; Giancarlo Parenti; Roberto Della Casa; Michelina Sibilio; Alfonso Romano; Francesco Di Salle; Raffaele Elefante; Giuseppina Mansi; Lucio Santoro; Anna Perretti; Roberto Paludetto; Luigi Sequino; Generoso Andria
Brain damage in glycogen storage disease type I.
The Journal of pediatrics 2004;144(5):637-42.
2004: María Luisa Martínez-Frías; Eva Bermejo; Elvira Rodríguez-Pinilla; Iris Scala; Generoso Andria; Lorenzo Botto
[Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants].
Medicina clínica 2004;122(10):361-4.
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.
2004: Antonio Baldellou; Generoso Andria; Pauline E Campbell; Joel Charrow; Ian Cohen; Gregory A Grabowski; Christopher M Harris; Paige Kaplan; Kieran McHugh; Eugen Mengel; Ashok Vellodi
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.
European journal of pediatrics 2004;163(2):67-75.
2004: Gregory A Grabowski; Generoso Andria; Antonio Baldellou; Pauline E Campbell; Joel Charrow; Ian Cohen; Christopher M Harris; Paige Kaplan; Eugen Mengel; Miguel Pocovi; Ashok Vellodi
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
European journal of pediatrics 2004;163(2):58-66.
2003: Iris Scala; Maria Pia Sperandeo; Valentina Fiorito; Generoso Andria; Gianfranco Sebastio
How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene?
American journal of medical genetics. Part A 2003;123A(3):314-5.
2003: Alfredo Pisacane; Ennio Toscano; I Pirri; Paola Continisio; Generoso Andria; B Zoli; Pietro Strisciuglio; Daniela Concolino; M Piccione; C Lo Giudice; S Vicari
Down syndrome and breastfeeding.
Acta paediatrica (Oslo, Norway : 1992) 2003;92(12):1479-81.
2003: Daniela Melis; Giancarlo Parenti; Roberto Della Casa; Michelina Sibilio; Roberto Berni Canani; Gianluca Terrin; Salvatore Cucchiara; Generoso Andria
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs.
Acta paediatrica (Oslo, Norway : 1992) 2003;92(12):1415-21.
2003: Ennio Toscano; Giuseppe Pacileo; Giuseppe Limongelli; Marina Verrengia; O Di Mita; Salvatore Di Maio; Mariacarolina Salerno; Emanuele Miraglia del Giudice; B Caniello; Raffaele Calabrò; Generoso Andria
Subclinical hypothyroidism and Down's syndrome; studies on myocardial structure and function.
Archives of disease in childhood 2003;88(11):1005-8.
2003: Mariacarolina Salerno; G Amabile; Claudia Mandato; Salvatore Di Maio; M Lecora; enrico vittorio avvedimento; Generoso Andria
Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: a new syndrome?
American journal of medical genetics. Part A 2003;120A(3):389-94.
2003: Nicola Brunetti-Pierri; Daniele De Brasi; Shiro Ikegawa; Giovanni Camera; Generoso Andria; Gianfranco Sebastio
A new patient with Lowry-Wood syndrome with mild phenotype.
American journal of medical genetics. Part A 2003;118A(1):68-70.
2003: Daniele De Brasi; Nicola Brunetti-Pierri; Pierpaolo Di Micco; Generoso Andria; Gianfranco Sebastio
New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome?
American journal of medical genetics. Part A 2003;117A(2):194-5.
2003: Nicola Brunetti-Pierri; Michele Andreucci; Rosaria Tuzzi; Giovanna Roberta Vega; George Gray; Carol McKeown; Andrea Ballabio; Generoso Andria; Germana Meroni; Giancarlo Parenti
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
American journal of medical genetics. Part A 2003;117A(2):164-8.
2003: Timothy M Cox; johannes aerts; Generoso Andria; Michael Beck; N Belmatoug; Bruno Bembi; R Chertkoff; Stephan vom Dahl; Deborah Elstein; Anders Erikson; M Giralt; Rene Heitner; Carla E M Hollak; Martin Hrebicek; S Lewis; Atul Mehta; Gregory M Pastores; Arndt Rolfs; M. Clara Sá-Miranda; Ari Zimran
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.
Journal of inherited metabolic disease 2003;26(6):513-26.
2002: Nicola Brunetti-Pierri; Gaetano Corso; Massimiliano Rossi; Paola Ferrari; Fiorella Balli; Francesco Rivasi; Ida Annunziata; Andrea Ballabio; Antonio Dello Russo; Generoso Andria; Giancarlo Parenti
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
American journal of human genetics 2002;71(4):952-8.
2002: Ennio Toscano; Alessandro Simonati; Yasuhiro Indo; Generoso Andria
No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V.
Annals of neurology 2002;52(2):224-7.
2002: Massimiliano Rossi; Pierpaolo Di Micco; Lucia Perone; Daniele De Brasi; Vito Guzzetta; Michele Andreucci; Giovanna Roberta Vega; Maria Grazia Marzano; Emilia Iaccarino; Generoso Andria
Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
American journal of medical genetics 2002;110(4):353-8.
2002: Raffaella de Franchis; Lorenzo D Botto; Gianfranco Sebastio; Roberta Ricci; Achille Iolascon; Valeria Capra; Generoso Andria; Pierpaolo Mastroiacovo
Spina bifida and folate-related genes: a study of gene-gene interactions.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(3):126-30.
2001: Daniele De Brasi; E Rossi; S Giglio; A D'Agostino; Luigi Titomanlio; Vincenzo Farina; Generoso Andria; Gianfranco Sebastio
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.
American journal of medical genetics 2001;104(2):127-30.
2001: Yasuhiro Indo; S Mardy; Yuichi Miura; A Moosa; Essam A Ismail; Ennio Toscano; Generoso Andria; V Pavone; D L Brown; A Brooks; Fumio Endo; I Matsuda
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
Human mutation 2001;18(4):308-18.
2001: Ennio Toscano; V Trivellini; Generoso Andria
Cholelithiasis in Down's syndrome.
Archives of disease in childhood 2001;85(3):242-3.
2001: Ennio Toscano; Generoso Andria
Congenital insensitivity to pain with anhidrosis: an NGF/TrkA-related disorder.
American journal of medical genetics 2001;99(2):164-5.
2001: Sergio Giannattasio; Irma Dianzani; P Lattanzio; Marco Spada; Valentino Romano; Francesco Calì; Generoso Andria; Alberto Ponzone; Ersilia Marra; A Piazza
Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes.
Human heredity 2001;52(3):154-9.
2000: Valeria Dall'Asta; Ovidio Bussolati; Roberto Sala; Bianca Maria Rotoli; Gianfranco Sebastio; Maria Pia Sperandeo; Generoso Andria; Gian C Gazzola
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects.
American journal of physiology. Cell physiology 2000;279(6):C1829-37.
2000: Raffaella de Franchis; Isabella Fermo; Giuseppina Mazzola; Gianfranco Sebastio; Giovanni Di Minno; Antonio Coppola; Generoso Andria; Armando D'Angelo
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia.
Thrombosis and haemostasis 2000;84(4):576-82.
2000: Daniele De Brasi; Roberto Della Casa; Luigi Titomanlio; A D'Agostino; Lucia Perone; Generoso Andria
Mental retardation, tall stature and minor phenotypic abnormalities associated with a de novo complex chromosome rearrangement.
Neuropediatrics 2000;31(3):164-6.
2000: N B Pierri; M Lecora; Annalisa Passariello; Iris Scala; Generoso Andria
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia.
American journal of medical genetics 2000;91(2):123-5.
2000: Maria Pia Sperandeo; Paola Ungaro; Maria Vernucci; Paolo V Pedone; Flavia Cerrato; Lucia Perone; Stefano Casola; M V Cubellis; Carmelo B Bruni; Generoso Andria; Gianfranco Sebastio; Andrea Riccio
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.
American journal of human genetics 2000;66(3):841-7.
2000: Ennio Toscano; Roberto Della Casa; S Mardy; L Gaetaniello; F Sadile; Yasuhiro Indo; Claudio Pignata; Generoso Andria
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.
Neuropediatrics 2000;31(1):39-41.
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: Daniele De Brasi; Teresa Esposito; Massimiliano Rossi; Giancarlo Parenti; Maria Pia Sperandeo; Alfredo Zuppaldi; Tiziana Bardaro; M A Ambruzzi; L Zelante; Alfredo Ciccodicola; Gianfranco Sebastio; Michele D'Urso; Generoso Andria
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
European journal of human genetics : EJHG 1999;7(8):937-40.
1999: Luigi Titomanlio; Roberto Della Casa; M Lecora; Vincenzo Farina; Gianfranco Sebastio; Generoso Andria; Giancarlo Parenti
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form.
American journal of medical genetics 1999;86(1):82-5.
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: M Grasso; Francesca Faravelli; C Lo Nigro; Pietro Chiurazzi; Maria Pia Sperandeo; A Argusti; Maria Grazia Pomponi; M Lecora; Gianfranco Sebastio; Lucia Perroni; Generoso Andria; G Neri; Franca Dagna Bricarelli
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.
American journal of medical genetics 1999;85(3):311-6.
1999: S Mardy; Yuichi Miura; Fumio Endo; I Matsuda; László Sztriha; P Frossard; A Moosa; Essam A Ismail; A Macaya; Generoso Andria; Ennio Toscano; W Gibson; G E Graham; Yasuhiro Indo
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
American journal of human genetics 1999;64(6):1570-9.
1999: Daniele De Brasi; Lucia Perone; Pierpaolo Di Micco; Generoso Andria; Gianfranco Sebastio; E Iaccarino; L Pinto; F Aliberti
Cloverleaf skull anomaly and de novo trisomy 4p.
Journal of medical genetics 1999;36(5):422-4.
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.
1999: Jan P Kraus; Miroslav Janosík; Viktor Kozich; R Mandell; Vivian E Shih; Maria Pia Sperandeo; Gianfranco Sebastio; Raffaella de Franchis; Generoso Andria; Leo A J Kluijtmans; H Blom; Godfried H J Boers; Ross B Gordon; P Kamoun; M Y Tsai; warren kruger; Hans Georg Koch; T Ohura; Mette Gaustadnes
Cystathionine beta-synthase mutations in homocystinuria.
Human mutation 1999;13(5):362-75.
1998: Daniela Melis; Lucia Perone; Maria Pia Sperandeo; M Simona Sabbatino; M R Tuzzi; A Romano; Giancarlo Parenti; Generoso Andria
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.
Journal of medical genetics 1998;35(12):1047-9.
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.
1998: T Lauteala; Juha Mykkänen; Maria Pia Sperandeo; P Gasparini; Marja-Liisa Savontaus; Olli Simell; Generoso Andria; Gianfranco Sebastio; Pertti Aula
Genetic homogeneity of lysinuric protein intolerance.
European journal of human genetics : EJHG 1998;6(6):612-5.
1998: Daniela Concolino; R Cinti; MT Moricca; Generoso Andria; Pietro Strisciuglio
Centric fission of chromosome 9 in a boy with trisomy 9p.
American journal of medical genetics 1998;79(1):35-7.
1998: Maria Pia Sperandeo; Giuseppe Borsani; B Incerti; Massimo Zollo; E Rossi; Orsetta Zuffardi; Pasqualina Castaldo; Maurizio Taglialatela; Generoso Andria; Gianfranco Sebastio
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.
Genomics 1998;49(2):230-6.
1998: Giancarlo Parenti; Mirella Filocamo; Luigi Titomanlio; G Rizzolo; E Silvestro; Anna Perretti; R Gatti; Generoso Andria
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
Clinical genetics 1998;53(4):281-5.
1998: Raffaella de Franchis; Maria Pia Sperandeo; Gianfranco Sebastio; Generoso Andria
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
European journal of pediatrics 1998;157 Suppl 2():S67-70.
1998: Francesca Santamaria; Giancarlo Parenti; G Guidi; Mirella Filocamo; Pietro Strisciuglio; G Grillo; Vincenzo Farina; Paola Sarnelli; M G Rizzolo; A Rotondo; Generoso Andria
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?
American journal of respiratory and critical care medicine 1998;157(3 Pt 1):985-9.
1998: A Daniele; Giancarlo Parenti; Marilena D'Addio; Generoso Andria; Andrea Ballabio; Germana Meroni
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
American journal of human genetics 1998;62(3):562-72.
1998: Ennio Toscano; Anna Perretti; Pietro Balbi; E Silvestro; Generoso Andria; Giancarlo Parenti
Detection of subclinical central nervous system abnormalities in two patients with mucolipidosis III by the use of motor and somatosensory evoked potentials.
Neuropediatrics 1998;29(1):40-2.
1997: Giancarlo Parenti; P Buttitta; Germana Meroni; Brunella Franco; L Bernard; M G Rizzolo; Nicola Brunetti-Pierri; Andrea Ballabio; Generoso Andria
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.
American journal of medical genetics 1997;73(2):139-43.
1997: V Guzzetta; Giuseppe Bonapace; Irma Dianzani; Giancarlo Parenti; M Lecora; Sergio Giannattasio; Daniela Concolino; Pietro Strisciuglio; Gianfranco Sebastio; Generoso Andria
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.
Journal of inherited metabolic disease 1997;20(5):619-24.
1996: M Lecora; Giancarlo Parenti; Generoso Andria
CFC syndrome: report of familial cases.
Clinical genetics 1996;50(6):558-9.
1996: Maria Pia Sperandeo; R de Franchis; Generoso Andria; Gianfranco Sebastio
A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.
American journal of human genetics 1996;59(6):1391-3.
1996: R Santamaria; S Tamasi; G Del Piano; Gianfranco Sebastio; Generoso Andria; C Borrone; G Faldella; Paola Izzo; Francesco Salvatore
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.
Journal of medical genetics 1996;33(9):786-8.
1996: V Guzzetta; Emma De Fabiani; G Galli; C Colombo; Gaetano Corso; M Lecora; Giancarlo Parenti; Pietro Strisciuglio; Generoso Andria
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group.
Acta paediatrica (Oslo, Norway : 1992) 1996;85(8):937-42.
1996: Gianfranco Sebastio; Lucia Perone; V Guzzetta; L Sebastio; L Vicari; Roberto Della Casa; F Gurrieri; S Zappata; Maria Grazia Pomponi; A Mazzei; Giovanni Neri; Generoso Andria; Christina Brahe
Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.
American journal of medical genetics 1996;63(2):366-72.
1996: Daniela Concolino; D Sperlì; R Cinti; Pietro Strisciuglio; Generoso Andria
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs.
Clinical genetics 1996;49(5):274-6.
1996: V Guzzetta; M Lecora; G Rossi; M Berni Canani; Generoso Andria
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum.
Clinical dysmorphology 1996;5(2):179-82.
1996: Francesca Santamaria; Giancarlo Parenti; G Guidi; A Rotondo; G Grillo; M R Larocca; Luigi Celentano; Pietro Strisciuglio; Gianfranco Sebastio; Generoso Andria
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods.
American journal of respiratory and critical care medicine 1996;153(2):731-5.
1996: Maria Pia Sperandeo; M Candito; Gianfranco Sebastio; M O Rolland; C Turc-Carel; H Giudicelli; P Dellamonica; Generoso Andria
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.
Journal of inherited metabolic disease 1996;19(3):351-6.
1995: Giancarlo Parenti; M G Rizzolo; M Ghezzi; Salvatore Di Maio; Maria Pia Sperandeo; B Incerti; Brunella Franco; A Ballabio; Generoso Andria
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.
American journal of medical genetics 1995;57(3):476-8.
1995: Gianfranco Sebastio; Maria Pia Sperandeo; M Panico; Raffaella de Franchis; Jan P Kraus; Generoso Andria
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
American journal of human genetics 1995;56(6):1324-33.
1995: M Lecora; Giancarlo Parenti; E Iaccarino; G Scarano; Salvatore Cucchiara; Generoso Andria
Immunological disorder and Hirschsprung disease in round femoral inferior epiphysis dysplasia.
Clinical dysmorphology 1995;4(2):130-5.
1995: Giancarlo Parenti; Gianfranco Sebastio; Pietro Strisciuglio; B Incerti; C Pecoraro; L Terracciano; Generoso Andria
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course.
The Journal of pediatrics 1995;126(2):246-51.
1995: V Guzzetta; Lucio Santoro; P Gasparo-Rippa; Michele Ragno; G Vita; G Caruso; Generoso Andria
Charcot-Marie-Tooth disease: molecular characterization of patients from central and southern Italy.
Clinical genetics 1995;47(1):27-32.
1995: Maria Pia Sperandeo; M Panico; A Pepe; M Candito; Raffaella de Franchis; Jan P Kraus; Generoso Andria; Gianfranco Sebastio
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.
Journal of inherited metabolic disease 1995;18(2):211-4.
1994: Paolo Rubba; M Mercuri; F Faccenda; Arcangelo Iannuzzi; Concetta Irace; Pietro Strisciuglio; Agostino Gnasso; R Tang; Generoso Andria; M G Bond
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.
Stroke; a journal of cerebral circulation 1994;25(5):943-50.
1993: D Sperli; Daniela Concolino; C Barbato; Pietro Strisciuglio; Generoso Andria
Long survival of a patient with Marshall-Smith syndrome without respiratory complications.
Journal of medical genetics 1993;30(10):877-9.
1993: Giovanni Di Minno; Giovanni Davì; Maurizio Margaglione; Ferdinando Cirillo; Elvira Grandone; Giovanni Ciabattoni; I Catalano; Pietro Strisciuglio; Generoso Andria; Carlo Patrono
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.
The Journal of clinical investigation 1993;92(3):1400-6.
1992: Giovanni Di Minno; Maurizio Margaglione; Ferdinando Cirillo; Elvira Grandone; Giovanni Davì; Giovanni Ciabattoni; I Catalano; Pietro Strisciuglio; Generoso Andria; Antonio Coppola
In vivo platelet activation in homozygous cystathionine beta-synthase deficiency: a probucol-sensitive phenomenon.
Transactions of the Association of American Physicians 1992;105():149-56.
1991: Gianfranco Sebastio; R de Franchis; Pietro Strisciuglio; Generoso Andria; Carlo Dionisi Vici; Gaetano Sabetta; R Gatti; N C Cross; T M Cox
Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
Journal of medical genetics 1991;28(4):241-3.
1990: Paolo Rubba; F Faccenda; Paolo Pauciullo; L Carbone; M Mancini; Pietro Strisciuglio; R Carrozzo; R Sartorio; Emanuele Miraglia del Giudice; Generoso Andria
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency.
Metabolism: clinical and experimental 1990;39(11):1191-5.
1989: Paolo Rubba; F Faccenda; Pietro Strisciuglio; Generoso Andria
Ultrasonographic detection of arterial disease in treated homocystinuria.
The New England journal of medicine 1989;321(25):1759-60.
1989: V Poggi; Guido Rindi; C Patrini; B De Vizia; G Longo; Generoso Andria
Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia.
European journal of pediatrics 1989;148(4):307-11.
1988: A Ballabio; Giancarlo Parenti; R Carrozzo; G Coppa; L Felici; V Migliori; Margherita Silengo; Piergiorgio Franceschini; Generoso Andria
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
Clinical genetics 1988;34(1):31-7.
1988: R Sartorio; L Greco; R Carrozzo; C Budillon; Generoso Andria
A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded children and their mothers.
Clinical genetics 1988;33(4):241-5.
1987: A Ballabio; Gianfranco Sebastio; R Carrozzo; Giancarlo Parenti; A Piccirillo; M G Persico; Generoso Andria
Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.
Human genetics 1987;77(4):338-41.
1987: A Ballabio; G Parenti; R Carrozzo; Gianfranco Sebastio; Generoso Andria; V Buckle; N Fraser; I Craig; Mariano Rocchi; G Romeo
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(13):4519-23.
1987: Pietro Strisciuglio; Salvatore Di Maio; Giancarlo Parenti; Adriana Franzese; P Lubrano; Angela Mariano; Generoso Andria
Evidence of polyglandular involvement in Niemann-Pick disease type B.
European journal of pediatrics 1987;146(4):431-3.
1987: Emanuele Miraglia del Giudice; R Sartorio; A Romano; R Carrozzo; Generoso Andria
Megalocornea and mental retardation syndrome: two new cases.
American journal of medical genetics 1987;26(2):417-20.
1987: Giancarlo Parenti; A Ballabio; André Hoogeveen; C M Van der Loos; A C Jobsis; Generoso Andria
Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency.
Journal of inherited metabolic disease 1987;10(3):224-8.
1986: A Ballabio; G Parenti; P Tippett; C Mondello; Salvatore Di Maio; Alfred Tenore; Generoso Andria
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.
Human genetics 1986;72(3):237-40.
1986: R Sartorio; R Carrozzo; L Corbo; Generoso Andria
Protein-bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine-synthase deficiency.
Journal of inherited metabolic disease 1986;9(1):25-9.
1985: L Cotticelli; Ciro Costagliola; Ernesto Rinaldi; A DiMeo; R Sartorio; P Vajro; Generoso Andria
Ophthalmological findings of phenylketonuria: a survey of 14 cases.
Journal of pediatric ophthalmology and strabismus 1985;22(2):78-9.
1985: O Tamburrini; A Bartolomeo-De Iuri; Generoso Andria; Pietro Strisciuglio; Emanuele Miraglia del Giudice
Short fourth metacarpal in homocystinuria.
Pediatric radiology 1985;15(3):209-10.
1984: O Tamburrini; A Bartolomeo-De Iuri; Generoso Andria; Pietro Strisciuglio; Emanuele Miraglia del Giudice; P Palescandolo; R Sartorio
[Bone changes in homocystinuria in childhood].
La Radiologia medica 1984;70(12):937-42.
1984: Emanuele Miraglia del Giudice; L Pelosi; A Romano; P De Bellis; M R Licenziati; I Pastore; Generoso Andria; E Boltshauser; L C Pinto
Unexplained bilateral occipital calcification and reduced vision.
Neuropediatrics 1984;15(4):218-9.
1984: Generoso Andria; A Ballabio; Giancarlo Parenti; S DiMaio; A Piccirillo
Steroid sulphatase deficiency and hypogonadism.
European journal of pediatrics 1984;142(4):304-5.
1984: Generoso Andria; A Ballabio; Giancarlo Parenti; S Di Maio; A Piccirillo
Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'.
Journal of inherited metabolic disease 1984;7 Suppl 2():159-60.
1984: V Poggi; G Longo; B DeVizia; Generoso Andria; Guido Rindi; C Patrini; E Cassandro
Thiamin-responsive megaloblastic anaemia: a disorder of thiamin transport?
Journal of inherited metabolic disease 1984;7 Suppl 2():153-4.
1983: Pietro Strisciuglio; Gianfranco Sebastio; Generoso Andria; S Maione; Valeria Raia
Severe cardiac anomalies in sibs with Larsen syndrome.
Journal of medical genetics 1983;20(6):422-4.
1983: C Pignata; Vincenzo Farina; Generoso Andria; Emanuele Miraglia del Giudice; S Striano; L Adinolfi
Prolonged Q-T interval syndrome presenting as idiopathic epilepsy.
Neuropediatrics 1983;14(4):235-6.
1983: Pietro Strisciuglio; Valeria Raia; A Di Meo; E Rinaldi; Generoso Andria
Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis.
Journal of medical genetics 1983;20(1):72-3.
1983: Emanuele Miraglia del Giudice; S Striano; Generoso Andria
Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.
Clinical neurology and neurosurgery 1983;85(3):165-8.