Sfoglia per Autore
Deficit di 21 idrossilasi in bambine con pubarca prematuro
1987-01-01 De Sanctis C; Aimar A; Lala R; Signorile G; De Sanctis L.
Diagnosis of ambiguous genitalia.
1990-01-01 De Sanctis C; Einaudi S; De Sanctis L.
Molecular basis of phenylketonuria in Italy
1992-01-01 Dianzani I; Camaschella C; Ferrero GB; De Sanctis L; Ponzone A; Cotton RGH.
Le basi molecolari delle iperfenilalaninemie ereditarie nella popolazione italiana
1992-01-01 Dianzani I; De Sanctis L; Alliaudi C; Ferrero GB; Ponzone A; Camaschella C.
Screening neonatale di massa per malattie metaboliche: 10 anni di attività nella regione Piemonte
1992-01-01 Ponzone A; Dianzani I; Ferrero GB; Spada M; Parrella T; De Sanctis L; Ferraris S; Guardamagna O; Fiorucci GC; Dotti G; Bonetti G; Pagliardini S.
Nodi tiroidei in eta' pediatrica.
1993-01-01 Milano M; Corrias A; De Sanctis L.; Galli G; Canavese F; Forni M; Garberoglio R; Silvestro L
Prenatal diagnosis in primary hyperphenylalaninemias.
1993-01-01 Ponzone A; Dianzani I; Spada M; De Sanctis L; Guardamagna O; Viora E; Ponzone R; Kierat L; Leimbacher W; Matasovic A; Blau N
Genetic history of hyperphenylalaninemias in Italy
1994-01-01 Dianzani I; Giannattasio S; De Sanctis L; Alliaudi C; Marra E; Ponzone A; Camaschella C; Piazza A.
La terapia con ormone della crescita nell'età evolutiva
1994-01-01 De Sanctis C; Chiabotto P; De Sanctis L; Lala R.
La funzionalità gonadica in pazienti con sindrome di Down.
1994-01-01 Corrias A; Altare F; De Sanctis L; Einaudi S.
Growth impairment, IGF I hyposecretion and thyroid dysfunction in children with perinatal HIV-1 infection.
1994-01-01 Matarazzo P; Palomba E; Lala R; Ciuti E; Altare F; de Sanctis L; Tovo PA.
Genetic history of phenylketonuria mutations in Italy.
1994-01-01 Dianzani I; Giannattasio S; de Sanctis L; Marra E; Ponzone A; Camaschella C; Piazza A.
Cistinuria: caratterizzazione fenotipica e basi molecolari.
1995-01-01 De Sanctis L; Cosseddu D; Bonetti G; Biondi A; Bruno M; Dianzani I; Ponzone A.
Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity.
1995-01-01 Dianzani I; Knappskog PM; de Sanctis L; Giannattasio S; Riva E; Ponzone A; Apold J; Camaschella C.
Characterization of phenylketonuria alleles in the Italian population.
1995-01-01 Dianzani I; Giannattasio S; de Sanctis L; Alliaudi C; Lattanzio P; Vici CD; Burlina A; Burroni M; Sebastio G; Carnevale F; et al.
Molecular basis of Dihydropterine Reductase Deficiency.
1995-01-01 Dianzani I; Alliaudi C; Dompè C; De Sanctis L; Ponzone A.
Molecular basis of Phenylketonuria.
1995-01-01 Giannattasio S; Dianzani I; De Sanctis L; Dompè C; Lattanzio P; Alliaudi C; Carnevale F; Ponzone A; Marra E.
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.
1995-01-01 Calonge MJ; Volpini V; Bisceglia L; Rousaud F; de Sanctis L; Beccia E; Zelante L; Testar X; Zorzano A; Estivill X; et al.
Genetic heterogeneity in cystinuria. New mutations and polymorphisms.
1995-01-01 Calonge MJ; Volpini V; Bisceglia L; Purroy J; Rousald F; De Sanctis L; Beccia E; Zelante L; Testar X; Zorzano A; Ponzone A.
Genotype-phenotype correlation in phenylketonuria.
1996-01-01 Dianzani I; Giannattasio S; De Sanctis L; Spada M; Alliaudi C; Lattanzio P; Carnevale F; Marra E; Ponzone A.
Inborn errors of neurotransmitter metabolism: from Phenotype to Genotype
1996-01-01 Carbonara C; Dianzani I; Spada M; Ferrero GB; De Sanctis L; De Luca F; Ponzone A.
Mutations and phenotypes in dihydropteridine reductase deficiency in Italy
1996-01-01 De Sanctis L; Alliaudi C; Spada M; Cerone R; Biasucci G; Blau N; Ponzone A; Dianzani I.
Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion, and one polymorphism
1996-01-01 Bisceglia L; Calonge MJ; Dello Strologo L; Rizzoni G; de Sanctis L; Gallucci M; Beccia E; Testar X; Zorzano A; Estivill X; Zelante L; Palacin M; Gasparini P; Nunes V.
Early versus late screening for phenylketonuria: a metabolic study.
1996-01-01 Ferraris S; Spada M; De Sanctis L; Ferrero GB; Pagliardini S; Dotti G; Silvestro L; Ponzone A
Different strategies in the treatment of dihydropteridine reductase deficiency
1996-01-01 Spada M; Blau N; Meli C; Ferrero GB; De Sanctis L; Ferraris S; Ponzone A.
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin.
1996-01-01 Spada M; Ferraris S; Ferrero GB; Sartore M; Lanza C; Perfetto F; de Sanctis L; Dompé C; Blau N; Ponzone A.
Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients.
1996-01-01 De Sanctis L; Bruno M; Bonetti G; Cosseddu D; Bisceglia L; Ponzone A; Dianzani I.
Phenotyping of phenylketonuric patients by oral phenylalanine loading.
1996-01-01 Ponzone A; Spada M; de Sanctis L; Dianzani I.
Dihydropteridine reductase deficiency: biochemical characterization of a new mild mutation and definition of the genomic structure of the DHPR gene.
1997-01-01 De Sanctis L; Armarego WLF; Smooker P; Gough T; Brusco A; Zhang HP; Yang A; Ponzone A.
Growth hormone treatment in irradiated children with brain tumors.
1997-01-01 Corrias A; Picco P; Einaudi S; de Sanctis L; Besenzon L; Garrè ML; Brach del Prever A; de Sanctis C.
Diagnosis and molecular characterization in 3 children with 17alpha-hydroxylase deficiency and female axternal genitalia.
1997-01-01 Einaudi S; De Sanctis L; Biason Lauber A; Perona A; Schwabe U; De Sanctis C.
Cistinuria: definizione del fenotipo attraverso carico orale con lisina a arginina e analisi del genotipo.
1998-01-01 De Sanctis L; Bonetti G; Bisceglia L; Bruno M; Dianzani I; Ponzone A.
difetto di diidropteridina reduttasi: struttura genomica del gene QDPR, identificazione di tre nuove mutazioni e correlazioni genotipo-fenotipo.
1998-01-01 De Sanctis L; Alliaudi C; Armarengo W; Spada M; Cotton RGH; Ponzone A; Dianzani I.
diagnosi biochimica di eterozigosi per la fenilchetonuria.
1998-01-01 Spada M; Battistoni G; Bonetti G; Piccotti A; Perfetto F; Baglieri S; Peduto A; Chiadò Cutin S; De Sanctis L; Dianzani I; Ponzone A.
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
1998-01-01 Dianzani I; de Sanctis L; Smooker PM; Gough TJ; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang HP; Yang N; Ponzone A; Armarego WL; Cotton RG.
Cystinuria: definition of phenotype By Lysine and Arginine oral loads.
1998-01-01 De Sanctis L; Bruno M; Bonetti G; Bisceglia L; Dianzani I; Ponzone A.
Molecular basis of dihydropteridine reductase (DHPR) deficiency: report of 5 new mutations and genotype/fenotype correlation.
1999-01-01 De Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Blau N; Ponzone A. Dianzani I.
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.
1999-01-01 Smooker PM; Gough TJ; Cotton RG; Alliaudi C; de Sanctis L; Dianzani I.
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
1999-01-01 Feliubadaló L; Font M; Purroy J; Rousaud F; Estivill X; Nunes V; Golomb E; Centola M; Aksentijevich I; Kreiss Y; Goldman B; Pras M; Kastner DL; Pras E; Gasparini P; Bisceglia L; Beccia E; Gallucci M; de Sanctis L; Ponzone A; Rizzoni GF, Zelante L; Bassi MT; George AL Jr; Manzoni M; De Grandi A; Riboni M; Endsley JK; Ballabio A; Borsani G; Reig N; Fernández E; Estévez R; Pineda M; Torrents D; Camps M; Lloberas J; Zorzano A; Palacín M; International Cystinuria Consortium.
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
2000-01-01 de Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Biasucci G; Meli C; Zammarchi E; Coskun T; Blau N; Ponzone A; Dianzani I.
Delezione del gene SHOX nella discondrosteosi di Leri-Weill.
2000-01-01 Falcinelli C; Mariani S; Madeo S; Iughetti L; De Sanctis L; Forabosco A; Bernasconi S.
GNAS1 mutational analysis in 8 Italian Albright Hereditary Osteodystrphy patients: identification of 2 novel mutations.
2000-01-01 De Sanctis L; Buzi F; Scirè G; Romagnolo D; Lala R; De Sanctis C.
Albright hereditary osteodystrphy and pseudohypoparathyroidism: three new mutation and common deletion in GNAS1.
2000-01-01 De Sanctis L; Romagnolo De Sanctis C; Lala R; Olivero M; Di Renzo MF; Dianzani I.
Diagnosi di Pseudoipoparatiroidismo tipo la in 5 casi con l'analisi mutazionale del gene GNAS1.
2000-01-01 De Sanctis L; Dianzani I; Buzi F; Scirè G; Baroncelli G; Crinò A; Lala R; De sanctis C.
Genetic testing of hyperphenylalaninemias
2000-01-01 Dianzani I; De Sanctis L; Spada M; Ponzone A.
Soppressione farmacologica dell'attività residua di adenoma GH-secernente parzialmentwe asportato in un caso di gigantismo.
2001-01-01 Greggio N; Amaina A; Scanarini M; Pozzan GB; De Sanctis L.
Accuracy of fine needle aspiration biopsy of thyroid nodules in detecting malignancy in childhood: comparison with conventional clinical, laboratory, and imaging approaches.
2001-01-01 Corrias A; Einaudi S; Chiorboli E; Weber G; Crinò A; Andreo M; Cesaretti G; de Sanctis L; Messina MF; Segni M; Cicchetti M; Vigone M; Pasquino AM; Spera S; de Luca F; Mussa GC; Bona G.
Diagnosis of pseudohypoparathyroidism type la and pseudopseudohypo-parathyroidism with GNAS1 gene analysis.
2001-01-01 De Sanctis L; Maghnie M; Scirè G; Greggio N; Buzi F; Grosso S; Baroncelli G; Crinò A; De Sanctis C.
Pseudoipoaldosteronismo: emergenza clinica neonatale.
2001-01-01 De Sanctis L; Einaudi S; Andreo M; Barberis L; Silvestro L.
Mutazioni del gene GNAS1 nelle patologie endocrine da alterata funzione della proteina Gsa.
2001-01-01 De Sanctis L.
Pseudohypoparathyroidism
2001-01-01 De Sanctis C; Lala R; De Sanctis L.
Cystinuria phenotyping by oral lysine and arginine loading.
2001-01-01 de Sanctis L; Bonetti G; Bruno M; De Luca F; Bisceglia L; Palacin M; Dianzani I; Ponzone A.
Central diabetes insipidus in children and adolescents: 20-years experience
2002-01-01 Matarazzo P; Lala R; Andreo M; De Sanctis L; De Sanctis C.
Shortening of the bones of the hand in genetically characterized PHP-la patients.
2002-01-01 De Sanctis L; Romagnolo D; Andreo MR; Olivero M; Dianzani I; De Sanctis C.
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
2002-01-01 Dello Strologo L; Pras E; Pontesilli C; Beccia E; Ricci-Barbini V; de Sanctis L; Ponzone A; Gallucci M; Bisceglia L; Zelante L; Jimenez-Vidal M; Font M; Zorzano A; Rousaud F; Nunes V; Gasparini P; Palacín M; Rizzoni G.
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.
2002-01-01 Falcinelli C; Iughetti L; Percesepe A; Calabrese G; Chiarelli F; Cisternino M; De Sanctis L; Pucarelli I; Radetti G; Wasniewska M; Weber G; Stuppia L; Bernasconi S; Forabosco A.
Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome.
2002-01-01 de Sanctis L; Romagnolo D; Greggio N; Genitori L; Lala R; de Sanctis C.
Trombosi cerebrale venosa in neonato con Bronchite da RSV.
2003-01-01 De Sanctis L; Farinasso D; Costa L; Russo MC; Coscia L; Tornetta L; Pagliarino M; Testa A; Silvestro L
Impiego dell’impedenziometria gastrica nel follow-up post-chirurgico in un caso di atresia esofagea congenita.
2003-01-01 Cresi F; de Sanctis L; Vinciguerra T; Russo MC; Costa L; Farinasso D; Testa A; Silvestro L
Streptococco bovis: rara causa di sepsi neonatale ad esordio tardivo.
2003-01-01 De Sanctis L; Borgarello G; Agriesti G; Stroppiana P; Agosta G; Longo P; Coppo E; Silvestro L.
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
2003-01-01 De Sanctis L; Romagnolo D; Olivero M; Buzi F; Maghnie M; Scirè G; Crino A; Baroncelli GI; Salerno M; Di Maio S; Cappa M; Grosso S; Rigon F; Lala R; De Sanctis C; Dianzani I.
Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism.
2003-01-01 De Sanctis C; Lala R; Matarazzo P; Andreo M; de Sanctis L.
Identificazione di una delezione nel gene TCOF1 in pazienti con sindrome di Treacher-Collins-Franceschetti
2003-01-01 Novelli G; de Sanctis L; Silengo M
Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors.
2004-01-01 Mantovani G; Bondioni S; Lania AG; Corbetta S; de Sanctis L; Cappa M; Di Battista E; Chanson P; Beck-Peccoz P; Spada A.
Anoftalmia bilaterale: identificazione di una nuova mutazione causale nel gene SOX2
2004-01-01 L. de Sanctis; U. de Sanctis; L. Tornetta; P. Stroppiana; F. Cresi; G. Borgarello; E. Coppo; G. Agosta; G. Agriesti; L. Silvestro
Alterazioni della proteina Gs alfa, manifestazioni cliniche ed aspetti genetici
2004-01-01 De Sanctis L; Lala R; Matarazzo P; Andreo R; De Sanctis C.
Disordini endocrini da alterata attività della proteina GS alfa: inquadramento clinico ed aspetti genetici.
2004-01-01 De sanctis C; Lala R; Matarazzo P; Andreo R; Romagnolo D; De Sanctis L.
Pseudoipoaldosteronismo e iponatriemia neonatale.
2004-01-01 De Sanctis L.
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.
2004-01-01 Christensen JH; Siggaard C; Corydon TJ; deSanctis L; Kovacs L; Robertson GL; Gregersen N; Rittig S.
GER e svuotamento gastrico nel neonato valutatimediante impedenziometria intraesofagea ed epigastrica
2004-01-01 F. Cresi; L. de Sanctis; L. Costa; D. Farinasso; A. Testa; C. Marinaccio; T. Vinciguerra; F. Savino; L. Silvestro
Relationship between symptoms and gastric activity in newborns with gastroesophageal reflux
2004-01-01 F. Cresi; L. de Sanctis; R. Bretto; C. Marinacccio; A. Testa; F. Savino; L. Silvestro
Dihydropteridine reductase deficiency in man: from biology to treatment.
2004-01-01 Ponzone A; Spada M; Ferraris S; Dianzani I; de Sanctis L.
Relationship between gastroesophageal reflux and gastrix empting in infants.
2004-01-01 Cresi F; Savino F; Vinciguerra T; Marinaccio C; Testa A; De Sanctis L; Silvestro L.
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients
2004-01-01 de Sanctis L; Vai S; Andreo MR; Romagnolo D; Silvestro L; de Sanctis C.
Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability
2004-01-01 de Sanctis L; Corrias A; Romagnolo D; Di Palma T; Biava A; Borgarello G; Gianino P; Silvestro L; Zannini M; Dianzani I.
Obesity, round face, brachydactyly and mental retardation in a boy with hypocalcemia
2004-01-01 Concolino D; Vega G; Pisaturo L; De Sanctis L; Strisciuglio P.
Gene symbol: SLC3A1. Disease: cystinuria.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: cystinuria.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Biceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M; Nunes V.
Gene symbol: SLC3A1. Disease: cystinuria.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
2005-01-01 Nunes M; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: cystinuria.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Rilevanza dei sintomi nel GERD neonatale. Analasi combinata mediante videoregistrazione, impedenzometria esofagea ed epigastrica e pH-metria
2005-01-01 F. Cresi; D. Farinasso; L. Costa; L. De Sanctis; M. Ferrigno; C.M. Marinaccio; L. Silvestro
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: cystinuria.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: cystinuria.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: cystinuria.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: cystinuria.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
2005-01-01 Nunes V; Font-Llitjós M; Jimenez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type I.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: Cystinuria.
2005-01-01 Nunes V; Font-Llitjos M; Jimenez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacin M; Nunes V.
Gene symbol: SLC3A1. Disease: cystinuria.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: cystinuria.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
2005-01-01 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Deficit di 21 idrossilasi in bambine con pubarca prematuro | 1987 | De Sanctis C; Aimar A; Lala R; Signorile G; De Sanctis L. | |
| Diagnosis of ambiguous genitalia. | 1990 | De Sanctis C; Einaudi S; De Sanctis L. | |
| Molecular basis of phenylketonuria in Italy | 1992 | Dianzani I; Camaschella C; Ferrero GB; De Sanctis L; Ponzone A; Cotton RGH. | |
| Le basi molecolari delle iperfenilalaninemie ereditarie nella popolazione italiana | 1992 | Dianzani I; De Sanctis L; Alliaudi C; Ferrero GB; Ponzone A; Camaschella C. | |
| Screening neonatale di massa per malattie metaboliche: 10 anni di attività nella regione Piemonte | 1992 | Ponzone A; Dianzani I; Ferrero GB; Spada M; Parrella T; De Sanctis L; Ferraris S; Guardamagna O; Fiorucci GC; Dotti G; Bonetti G; Pagliardini S. | |
| Nodi tiroidei in eta' pediatrica. | 1993 | Milano M; Corrias A; De Sanctis L.; Galli G; Canavese F; Forni M; Garberoglio R; Silvestro L | |
| Prenatal diagnosis in primary hyperphenylalaninemias. | 1993 | Ponzone A; Dianzani I; Spada M; De Sanctis L; Guardamagna O; Viora E; Ponzone R; Kierat L; Leimbacher W; Matasovic A; Blau N | |
| Genetic history of hyperphenylalaninemias in Italy | 1994 | Dianzani I; Giannattasio S; De Sanctis L; Alliaudi C; Marra E; Ponzone A; Camaschella C; Piazza A. | |
| La terapia con ormone della crescita nell'età evolutiva | 1994 | De Sanctis C; Chiabotto P; De Sanctis L; Lala R. | |
| La funzionalità gonadica in pazienti con sindrome di Down. | 1994 | Corrias A; Altare F; De Sanctis L; Einaudi S. | |
| Growth impairment, IGF I hyposecretion and thyroid dysfunction in children with perinatal HIV-1 infection. | 1994 | Matarazzo P; Palomba E; Lala R; Ciuti E; Altare F; de Sanctis L; Tovo PA. | |
| Genetic history of phenylketonuria mutations in Italy. | 1994 | Dianzani I; Giannattasio S; de Sanctis L; Marra E; Ponzone A; Camaschella C; Piazza A. | |
| Cistinuria: caratterizzazione fenotipica e basi molecolari. | 1995 | De Sanctis L; Cosseddu D; Bonetti G; Biondi A; Bruno M; Dianzani I; Ponzone A. | |
| Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity. | 1995 | Dianzani I; Knappskog PM; de Sanctis L; Giannattasio S; Riva E; Ponzone A; Apold J; Camaschella C. | |
| Characterization of phenylketonuria alleles in the Italian population. | 1995 | Dianzani I; Giannattasio S; de Sanctis L; Alliaudi C; Lattanzio P; Vici CD; Burlina A; Burroni M; Sebastio G; Carnevale F; et al. | |
| Molecular basis of Dihydropterine Reductase Deficiency. | 1995 | Dianzani I; Alliaudi C; Dompè C; De Sanctis L; Ponzone A. | |
| Molecular basis of Phenylketonuria. | 1995 | Giannattasio S; Dianzani I; De Sanctis L; Dompè C; Lattanzio P; Alliaudi C; Carnevale F; Ponzone A; Marra E. | |
| Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. | 1995 | Calonge MJ; Volpini V; Bisceglia L; Rousaud F; de Sanctis L; Beccia E; Zelante L; Testar X; Zorzano A; Estivill X; et al. | |
| Genetic heterogeneity in cystinuria. New mutations and polymorphisms. | 1995 | Calonge MJ; Volpini V; Bisceglia L; Purroy J; Rousald F; De Sanctis L; Beccia E; Zelante L; Testar X; Zorzano A; Ponzone A. | |
| Genotype-phenotype correlation in phenylketonuria. | 1996 | Dianzani I; Giannattasio S; De Sanctis L; Spada M; Alliaudi C; Lattanzio P; Carnevale F; Marra E; Ponzone A. | |
| Inborn errors of neurotransmitter metabolism: from Phenotype to Genotype | 1996 | Carbonara C; Dianzani I; Spada M; Ferrero GB; De Sanctis L; De Luca F; Ponzone A. | |
| Mutations and phenotypes in dihydropteridine reductase deficiency in Italy | 1996 | De Sanctis L; Alliaudi C; Spada M; Cerone R; Biasucci G; Blau N; Ponzone A; Dianzani I. | |
| Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion, and one polymorphism | 1996 | Bisceglia L; Calonge MJ; Dello Strologo L; Rizzoni G; de Sanctis L; Gallucci M; Beccia E; Testar X; Zorzano A; Estivill X; Zelante L; Palacin M; Gasparini P; Nunes V. | |
| Early versus late screening for phenylketonuria: a metabolic study. | 1996 | Ferraris S; Spada M; De Sanctis L; Ferrero GB; Pagliardini S; Dotti G; Silvestro L; Ponzone A | |
| Different strategies in the treatment of dihydropteridine reductase deficiency | 1996 | Spada M; Blau N; Meli C; Ferrero GB; De Sanctis L; Ferraris S; Ponzone A. | |
| Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. | 1996 | Spada M; Ferraris S; Ferrero GB; Sartore M; Lanza C; Perfetto F; de Sanctis L; Dompé C; Blau N; Ponzone A. | |
| Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients. | 1996 | De Sanctis L; Bruno M; Bonetti G; Cosseddu D; Bisceglia L; Ponzone A; Dianzani I. | |
| Phenotyping of phenylketonuric patients by oral phenylalanine loading. | 1996 | Ponzone A; Spada M; de Sanctis L; Dianzani I. | |
| Dihydropteridine reductase deficiency: biochemical characterization of a new mild mutation and definition of the genomic structure of the DHPR gene. | 1997 | De Sanctis L; Armarego WLF; Smooker P; Gough T; Brusco A; Zhang HP; Yang A; Ponzone A. | |
| Growth hormone treatment in irradiated children with brain tumors. | 1997 | Corrias A; Picco P; Einaudi S; de Sanctis L; Besenzon L; Garrè ML; Brach del Prever A; de Sanctis C. | |
| Diagnosis and molecular characterization in 3 children with 17alpha-hydroxylase deficiency and female axternal genitalia. | 1997 | Einaudi S; De Sanctis L; Biason Lauber A; Perona A; Schwabe U; De Sanctis C. | |
| Cistinuria: definizione del fenotipo attraverso carico orale con lisina a arginina e analisi del genotipo. | 1998 | De Sanctis L; Bonetti G; Bisceglia L; Bruno M; Dianzani I; Ponzone A. | |
| difetto di diidropteridina reduttasi: struttura genomica del gene QDPR, identificazione di tre nuove mutazioni e correlazioni genotipo-fenotipo. | 1998 | De Sanctis L; Alliaudi C; Armarengo W; Spada M; Cotton RGH; Ponzone A; Dianzani I. | |
| diagnosi biochimica di eterozigosi per la fenilchetonuria. | 1998 | Spada M; Battistoni G; Bonetti G; Piccotti A; Perfetto F; Baglieri S; Peduto A; Chiadò Cutin S; De Sanctis L; Dianzani I; Ponzone A. | |
| Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. | 1998 | Dianzani I; de Sanctis L; Smooker PM; Gough TJ; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang HP; Yang N; Ponzone A; Armarego WL; Cotton RG. | |
| Cystinuria: definition of phenotype By Lysine and Arginine oral loads. | 1998 | De Sanctis L; Bruno M; Bonetti G; Bisceglia L; Dianzani I; Ponzone A. | |
| Molecular basis of dihydropteridine reductase (DHPR) deficiency: report of 5 new mutations and genotype/fenotype correlation. | 1999 | De Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Blau N; Ponzone A. Dianzani I. | |
| A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. | 1999 | Smooker PM; Gough TJ; Cotton RG; Alliaudi C; de Sanctis L; Dianzani I. | |
| Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. | 1999 | Feliubadaló L; Font M; Purroy J; Rousaud F; Estivill X; Nunes V; Golomb E; Centola M; Aksentijevich I; Kreiss Y; Goldman B; Pras M; Kastner DL; Pras E; Gasparini P; Bisceglia L; Beccia E; Gallucci M; de Sanctis L; Ponzone A; Rizzoni GF, Zelante L; Bassi MT; George AL Jr; Manzoni M; De Grandi A; Riboni M; Endsley JK; Ballabio A; Borsani G; Reig N; Fernández E; Estévez R; Pineda M; Torrents D; Camps M; Lloberas J; Zorzano A; Palacín M; International Cystinuria Consortium. | |
| Genotype-phenotype correlation in dihydropteridine reductase deficiency. | 2000 | de Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Biasucci G; Meli C; Zammarchi E; Coskun T; Blau N; Ponzone A; Dianzani I. | |
| Delezione del gene SHOX nella discondrosteosi di Leri-Weill. | 2000 | Falcinelli C; Mariani S; Madeo S; Iughetti L; De Sanctis L; Forabosco A; Bernasconi S. | |
| GNAS1 mutational analysis in 8 Italian Albright Hereditary Osteodystrphy patients: identification of 2 novel mutations. | 2000 | De Sanctis L; Buzi F; Scirè G; Romagnolo D; Lala R; De Sanctis C. | |
| Albright hereditary osteodystrphy and pseudohypoparathyroidism: three new mutation and common deletion in GNAS1. | 2000 | De Sanctis L; Romagnolo De Sanctis C; Lala R; Olivero M; Di Renzo MF; Dianzani I. | |
| Diagnosi di Pseudoipoparatiroidismo tipo la in 5 casi con l'analisi mutazionale del gene GNAS1. | 2000 | De Sanctis L; Dianzani I; Buzi F; Scirè G; Baroncelli G; Crinò A; Lala R; De sanctis C. | |
| Genetic testing of hyperphenylalaninemias | 2000 | Dianzani I; De Sanctis L; Spada M; Ponzone A. | |
| Soppressione farmacologica dell'attività residua di adenoma GH-secernente parzialmentwe asportato in un caso di gigantismo. | 2001 | Greggio N; Amaina A; Scanarini M; Pozzan GB; De Sanctis L. | |
| Accuracy of fine needle aspiration biopsy of thyroid nodules in detecting malignancy in childhood: comparison with conventional clinical, laboratory, and imaging approaches. | 2001 | Corrias A; Einaudi S; Chiorboli E; Weber G; Crinò A; Andreo M; Cesaretti G; de Sanctis L; Messina MF; Segni M; Cicchetti M; Vigone M; Pasquino AM; Spera S; de Luca F; Mussa GC; Bona G. | |
| Diagnosis of pseudohypoparathyroidism type la and pseudopseudohypo-parathyroidism with GNAS1 gene analysis. | 2001 | De Sanctis L; Maghnie M; Scirè G; Greggio N; Buzi F; Grosso S; Baroncelli G; Crinò A; De Sanctis C. | |
| Pseudoipoaldosteronismo: emergenza clinica neonatale. | 2001 | De Sanctis L; Einaudi S; Andreo M; Barberis L; Silvestro L. | |
| Mutazioni del gene GNAS1 nelle patologie endocrine da alterata funzione della proteina Gsa. | 2001 | De Sanctis L. | |
| Pseudohypoparathyroidism | 2001 | De Sanctis C; Lala R; De Sanctis L. | |
| Cystinuria phenotyping by oral lysine and arginine loading. | 2001 | de Sanctis L; Bonetti G; Bruno M; De Luca F; Bisceglia L; Palacin M; Dianzani I; Ponzone A. | |
| Central diabetes insipidus in children and adolescents: 20-years experience | 2002 | Matarazzo P; Lala R; Andreo M; De Sanctis L; De Sanctis C. | |
| Shortening of the bones of the hand in genetically characterized PHP-la patients. | 2002 | De Sanctis L; Romagnolo D; Andreo MR; Olivero M; Dianzani I; De Sanctis C. | |
| Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. | 2002 | Dello Strologo L; Pras E; Pontesilli C; Beccia E; Ricci-Barbini V; de Sanctis L; Ponzone A; Gallucci M; Bisceglia L; Zelante L; Jimenez-Vidal M; Font M; Zorzano A; Rousaud F; Nunes V; Gasparini P; Palacín M; Rizzoni G. | |
| SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. | 2002 | Falcinelli C; Iughetti L; Percesepe A; Calabrese G; Chiarelli F; Cisternino M; De Sanctis L; Pucarelli I; Radetti G; Wasniewska M; Weber G; Stuppia L; Bernasconi S; Forabosco A. | |
| Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome. | 2002 | de Sanctis L; Romagnolo D; Greggio N; Genitori L; Lala R; de Sanctis C. | |
| Trombosi cerebrale venosa in neonato con Bronchite da RSV. | 2003 | De Sanctis L; Farinasso D; Costa L; Russo MC; Coscia L; Tornetta L; Pagliarino M; Testa A; Silvestro L | |
| Impiego dell’impedenziometria gastrica nel follow-up post-chirurgico in un caso di atresia esofagea congenita. | 2003 | Cresi F; de Sanctis L; Vinciguerra T; Russo MC; Costa L; Farinasso D; Testa A; Silvestro L | |
| Streptococco bovis: rara causa di sepsi neonatale ad esordio tardivo. | 2003 | De Sanctis L; Borgarello G; Agriesti G; Stroppiana P; Agosta G; Longo P; Coppo E; Silvestro L. | |
| Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. | 2003 | De Sanctis L; Romagnolo D; Olivero M; Buzi F; Maghnie M; Scirè G; Crino A; Baroncelli GI; Salerno M; Di Maio S; Cappa M; Grosso S; Rigon F; Lala R; De Sanctis C; Dianzani I. | |
| Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism. | 2003 | De Sanctis C; Lala R; Matarazzo P; Andreo M; de Sanctis L. | |
| Identificazione di una delezione nel gene TCOF1 in pazienti con sindrome di Treacher-Collins-Franceschetti | 2003 | Novelli G; de Sanctis L; Silengo M | |
| Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors. | 2004 | Mantovani G; Bondioni S; Lania AG; Corbetta S; de Sanctis L; Cappa M; Di Battista E; Chanson P; Beck-Peccoz P; Spada A. | |
| Anoftalmia bilaterale: identificazione di una nuova mutazione causale nel gene SOX2 | 2004 | L. de Sanctis; U. de Sanctis; L. Tornetta; P. Stroppiana; F. Cresi; G. Borgarello; E. Coppo; G. Agosta; G. Agriesti; L. Silvestro | |
| Alterazioni della proteina Gs alfa, manifestazioni cliniche ed aspetti genetici | 2004 | De Sanctis L; Lala R; Matarazzo P; Andreo R; De Sanctis C. | |
| Disordini endocrini da alterata attività della proteina GS alfa: inquadramento clinico ed aspetti genetici. | 2004 | De sanctis C; Lala R; Matarazzo P; Andreo R; Romagnolo D; De Sanctis L. | |
| Pseudoipoaldosteronismo e iponatriemia neonatale. | 2004 | De Sanctis L. | |
| Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. | 2004 | Christensen JH; Siggaard C; Corydon TJ; deSanctis L; Kovacs L; Robertson GL; Gregersen N; Rittig S. | |
| GER e svuotamento gastrico nel neonato valutatimediante impedenziometria intraesofagea ed epigastrica | 2004 | F. Cresi; L. de Sanctis; L. Costa; D. Farinasso; A. Testa; C. Marinaccio; T. Vinciguerra; F. Savino; L. Silvestro | |
| Relationship between symptoms and gastric activity in newborns with gastroesophageal reflux | 2004 | F. Cresi; L. de Sanctis; R. Bretto; C. Marinacccio; A. Testa; F. Savino; L. Silvestro | |
| Dihydropteridine reductase deficiency in man: from biology to treatment. | 2004 | Ponzone A; Spada M; Ferraris S; Dianzani I; de Sanctis L. | |
| Relationship between gastroesophageal reflux and gastrix empting in infants. | 2004 | Cresi F; Savino F; Vinciguerra T; Marinaccio C; Testa A; De Sanctis L; Silvestro L. | |
| Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients | 2004 | de Sanctis L; Vai S; Andreo MR; Romagnolo D; Silvestro L; de Sanctis C. | |
| Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability | 2004 | de Sanctis L; Corrias A; Romagnolo D; Di Palma T; Biava A; Borgarello G; Gianino P; Silvestro L; Zannini M; Dianzani I. | |
| Obesity, round face, brachydactyly and mental retardation in a boy with hypocalcemia | 2004 | Concolino D; Vega G; Pisaturo L; De Sanctis L; Strisciuglio P. | |
| Gene symbol: SLC3A1. Disease: cystinuria. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC3A1. Disease: cystinuria. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Biceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M; Nunes V. | |
| Gene symbol: SLC3A1. Disease: cystinuria. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC7A9. Disease: cystinuria, type non-I. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC7A9. Disease: cystinuria, type non-I. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC7A9. Disease: cystinuria, untyped. | 2005 | Nunes M; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC3A1. Disease: cystinuria. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Rilevanza dei sintomi nel GERD neonatale. Analasi combinata mediante videoregistrazione, impedenzometria esofagea ed epigastrica e pH-metria | 2005 | F. Cresi; D. Farinasso; L. Costa; L. De Sanctis; M. Ferrigno; C.M. Marinaccio; L. Silvestro | |
| Gene symbol: SLC7A9. Disease: cystinuria, type non-I. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC7A9. Disease: cystinuria, type non-I. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC3A1. Disease: cystinuria. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC7A9. Disease: cystinuria, type non-I. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC3A1. Disease: cystinuria. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC3A1. Disease: cystinuria. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC3A1. Disease: cystinuria. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC7A9. Disease: cystinuria, type non-I. | 2005 | Nunes V; Font-Llitjós M; Jimenez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC7A9. Disease: cystinuria, type non-I. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC7A9. Disease: cystinuria, type I. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC3A1. Disease: Cystinuria. | 2005 | Nunes V; Font-Llitjos M; Jimenez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacin M; Nunes V. | |
| Gene symbol: SLC3A1. Disease: cystinuria. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC3A1. Disease: cystinuria. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC7A9. Disease: cystinuria, type non-I. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC7A9. Disease: cystinuria, type non-I. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. | |
| Gene symbol: SLC7A9. Disease: cystinuria, untyped. | 2005 | Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M. |
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