Sfoglia per Autore
Linkage analysis in informative families for the identification of disease genes in the post-genoma era | L{'}analisi di linkage in famiglie informative per l{'}identificazione di geni malattia nell{'}era post-genoma
2001 Cusano, R.; Lo Nigro, C.; Panza, E.; Marini, M.; Bolino, A.; Lerone, M.; Silengo, M.; Ravazzolo, R.; Seri, M.
Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction [1]
2001 De Giorgio R.; Seri M.; Cogliandro R.F.; Cusano R.; Fava M.; Caroli F.; Panetta D.; Forabosco P.; Barbara G.; Ravazzolo R.; Ceccherini I.; Corinaldesi R.; Stanghellini V.
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness
2003 Seri M.; Pecci A.; Di Bari F.; Cusano R.; Savino M.; Panza E.; Nigro A.; Noris P.; Gangarossa S.; Rocca B.; Gresele P.; Bizzaro N.; Malatesta P.; Koivisto P.A.; Longo I.; Musso R.; Pecoraro C.; Iolascon A.; Magrini U.; Rodriguez Soriano J.; Renieri A.; Ghiggeri G.M.; Ravazzolo R.; Balduini C.L.; Savoia A.
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.
2004 Pescucci C; Mari F; Longo I; Vogiatzi P; Caselli R; Scala E; Abaterusso C; Gusmano R; Seri M; Miglietti N; Bresin E; Renieri A
PHOX2B mutations and genetic predisposition to neuroblastoma.
2005 Perri P; Bachetti T; Longo L; Matera I; Seri M; Tonini GP; Ceccherini I
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia
2005 Gangarossa S; Seri M; Pecci A; Di Bari F; Cusano R; Balduini C; Gasparini P; Savoia A.
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
2005 D'Osualdo A; Picco P; Caroli F; Gattorno M; Giacchino R; Fortini P; Corona F; Tommasini A; Salvi G; Specchia F; Obici L; Meini A; Ricci A; Seri M; Ravazzolo R; Martini A; Ceccherini I.
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.
2005 Bocciardi R; Giorda R; Marigo V; Zordan P; Montanaro D; Gimelli S; Seri M; Lerone M; Ravazzolo R; Gimelli G.
Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.
2005 Marini M; Giacopelli F; Seri M; Ravazzolo R.
PREVALENCE OF GJB2 , GJB6 AND A1555G MUTATIONS IN THE ITALIAN POPULATION
2006 P.PATERINI;D.BASTIA;M.SERI;D.TURCHETTI;C.GRAZIANO;C.BERGONZONI;M.MONTAGUTI;V.MANTOVANI;G.ROMEO
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
2006 Cagnoli C.; Mariotti C.; Taroni F.; Seri M.; Brussino A.; Michielotto C.; Grisoli M.; Di Bella D.; Migone N.; Gellera C.; Di Donato S.; Brusco A.
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia.
2006 Pizza F.; Donadio V.; Avoni P.; Panza E.; Sangiorgi S.; Seri M.; Carelli V.; Montagna P.; Liguori R.
Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease.
2006 M. Marini; M. Bruschi; A. Pecci; R. Romagnoli; L. Musante; G. Candiano; G.M. Ghiggeri; C. Balduini; M. Seri; R. Ravazzolo.
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome
2006 Turchetti D.; Razzaboni E.; Zomer H.; Rossi C.; Ferrari S.; Greco D.; Graziano C.; Romeo G.; Seri M.
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
2007 Savoia A; Dufour C; Locatelli F; Noris P; Ambaglio C; Rosti V; Zecca M; Ferrari S; di Bari F; Corcione A; Di Stazio M; Seri M; Balduini CL.
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation
2007 Graziano C.; D'Elia AV.; Mazzanti L.; Moscano F.; Guidelli Guidi S.; Scarano E.; Turchetti D.; Franzoni E.; Romeo G.; Damante G.; Seri M.
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.
2007 S. Sanna-Cherchi; G. Caridi; P.L. Weng; M. Dagnino; M. Seri; A. Konka; D. Somenzi; A. Carrea; C. Izzi; D. Casu; L. Allegri; K.M. Schmidt-Ott; J. Barasch; F. Scolari; R. Ravazzolo; G.M. Ghiggeri; A.G. Gharavi.
Molecular genetics of human enteric neuropathies.
2007 Panza E; Seri M; Barbara G; Castegnaro G; Romeo G; Stanghellini V; Corinaldesi R; De Giorgio R.
MYO7A mutation screening in Usher syndrome type I patients from diverse origins.
2007 Jaijo T; Aller E; Beneyto M; Najera C; Graziano C; Turchetti D; Seri M; Ayuso C; Baiget M; Moreno F; Morera C; Perez-Garrigues H; Millan JM.
Interstitial 6q deletion: a new patient with empty sella and GH deficiency
2007 Emanuela Scarano; Laura Mazzanti; Marco Seri; Rosalba Bergamaschi; Chiara Matteucci; Pamela Magini; Manuela de Gregori; Roberto Ciccone; Orsetta Zuffardi; Alessandro Cicognani
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Linkage analysis in informative families for the identification of disease genes in the post-genoma era | L{'}analisi di linkage in famiglie informative per l{'}identificazione di geni malattia nell{'}era post-genoma | Cusano, R.; Lo Nigro, C.; Panza, E.; Marini, M.; Bolino, A.; Lerone, M.; Silengo, M.; Ravazzolo, ...R.; Seri, M. | 2001-01-01 | GASLINI GENOVA | - | 1.01 Articolo in rivista | - |
| Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction [1] | De Giorgio R.; Seri M.; Cogliandro R.F.; Cusano R.; Fava M.; Caroli F.; Panetta D.; Forabosco P.;... Barbara G.; Ravazzolo R.; Ceccherini I.; Corinaldesi R.; Stanghellini V. | 2001-01-01 | CLINICAL GENETICS | - | 1.01 Articolo in rivista | - |
| MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness | Seri M.; Pecci A.; Di Bari F.; Cusano R.; Savino M.; Panza E.; Nigro A.; Noris P.; Gangarossa S.;... Rocca B.; Gresele P.; Bizzaro N.; Malatesta P.; Koivisto P.A.; Longo I.; Musso R.; Pecoraro C.; Iolascon A.; Magrini U.; Rodriguez Soriano J.; Renieri A.; Ghiggeri G.M.; Ravazzolo R.; Balduini C.L.; Savoia A. | 2003-01-01 | MEDICINE | - | 1.01 Articolo in rivista | - |
| Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. | Pescucci C; Mari F; Longo I; Vogiatzi P; Caselli R; Scala E; Abaterusso C; Gusmano R; Seri M; Mig...lietti N; Bresin E; Renieri A | 2004-01-01 | KIDNEY INTERNATIONAL | - | 1.01 Articolo in rivista | - |
| PHOX2B mutations and genetic predisposition to neuroblastoma. | Perri P; Bachetti T; Longo L; Matera I; Seri M; Tonini GP; Ceccherini I | 2005-01-01 | ONCOGENE | - | 1.01 Articolo in rivista | - |
| Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia | Gangarossa S; Seri M; Pecci A; Di Bari F; Cusano R; Balduini C; Gasparini P; Savoia A. | 2005-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | - |
| MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. | D'Osualdo A; Picco P; Caroli F; Gattorno M; Giacchino R; Fortini P; Corona F; Tommasini A; Salvi ...G; Specchia F; Obici L; Meini A; Ricci A; Seri M; Ravazzolo R; Martini A; Ceccherini I. | 2005-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene. | Bocciardi R; Giorda R; Marigo V; Zordan P; Montanaro D; Gimelli S; Seri M; Lerone M; Ravazzolo R;... Gimelli G. | 2005-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome. | Marini M; Giacopelli F; Seri M; Ravazzolo R. | 2005-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| PREVALENCE OF GJB2 , GJB6 AND A1555G MUTATIONS IN THE ITALIAN POPULATION | P.PATERINI;D.BASTIA;M.SERI;D.TURCHETTI;C.GRAZIANO;C.BERGONZONI;M.MONTAGUTI;V.MANTOVANI;G.ROMEO | 2006-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 4.02 Riassunto (Abstract) | - |
| SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. | Cagnoli C.; Mariotti C.; Taroni F.; Seri M.; Brussino A.; Michielotto C.; Grisoli M.; Di Bella D....; Migone N.; Gellera C.; Di Donato S.; Brusco A. | 2006-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
| Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. | Pizza F.; Donadio V.; Avoni P.; Panza E.; Sangiorgi S.; Seri M.; Carelli V.; Montagna P.; Liguori R. | 2006-01-01 | NEUROLOGICAL SCIENCES | - | 4.02 Riassunto (Abstract) | - |
| Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease. | M. Marini; M. Bruschi; A. Pecci; R. Romagnoli; L. Musante; G. Candiano; G.M. Ghiggeri; C. Balduin...i; M. Seri; R. Ravazzolo. | 2006-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | - |
| Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome | Turchetti D.; Razzaboni E.; Zomer H.; Rossi C.; Ferrari S.; Greco D.; Graziano C.; Romeo G.; Seri M. | 2006-01-01 | PRENATAL DIAGNOSIS | - | 1.01 Articolo in rivista | - |
| Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. | Savoia A; Dufour C; Locatelli F; Noris P; Ambaglio C; Rosti V; Zecca M; Ferrari S; di Bari F; Cor...cione A; Di Stazio M; Seri M; Balduini CL. | 2007-01-01 | HAEMATOLOGICA | - | 1.01 Articolo in rivista | - |
| A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation | Graziano C.; D'Elia AV.; Mazzanti L.; Moscano F.; Guidelli Guidi S.; Scarano E.; Turchetti D.; Fr...anzoni E.; Romeo G.; Damante G.; Seri M. | 2007-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. | S. Sanna-Cherchi; G. Caridi; P.L. Weng; M. Dagnino; M. Seri; A. Konka; D. Somenzi; A. Carrea; C. ...Izzi; D. Casu; L. Allegri; K.M. Schmidt-Ott; J. Barasch; F. Scolari; R. Ravazzolo; G.M. Ghiggeri; A.G. Gharavi. | 2007-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Molecular genetics of human enteric neuropathies. | Panza E; Seri M; Barbara G; Castegnaro G; Romeo G; Stanghellini V; Corinaldesi R; De Giorgio R. | 2007-01-01 | NEUROGASTROENTEROLOGY AND MOTILITY | - | 4.02 Riassunto (Abstract) | - |
| MYO7A mutation screening in Usher syndrome type I patients from diverse origins. | Jaijo T; Aller E; Beneyto M; Najera C; Graziano C; Turchetti D; Seri M; Ayuso C; Baiget M; Moreno... F; Morera C; Perez-Garrigues H; Millan JM. | 2007-01-01 | JOURNAL OF MEDICAL GENETICS | - | 1.01 Articolo in rivista | - |
| Interstitial 6q deletion: a new patient with empty sella and GH deficiency |
Emanuela Scarano; Laura Mazzanti; Marco Seri; Rosalba Bergamaschi; Chiara Matteucci; Pamela Magi...ni; Manuela de Gregori; Roberto Ciccone; Orsetta Zuffardi; Alessandro Cicognani |
2007-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
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