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13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins
2012-01-01 De Francesco, S.; Galluzzi, P.; Del Longo, A.; Piozzi, E.; Renieri, Alessandra; Menicacci, C.; Mari, Francesca; Munier, F.; Hadjistilianou, Theodora; Mastrangelo, D.
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay
2021-01-01 Privitera, F.; Calonaci, A.; Doddato, G.; Papa, F. T.; Baldassarri, M.; Pinto, A. M.; Mari, F.; Longo, I.; Caini, M.; Galimberti, D.; Hadjistilianou, T.; De Francesco, S.; Renieri, A.; Ariani, F.
14q12 Microdeletion syndrome and congenital variant of Rett syndrome
2009-01-01 Mencarelli, M. A.; Kleefstra, T.; Katzaki, E.; Papa, F. T.; Cohen, M.; Pfundt, R.; Ariani, F.; Meloni, I.; Mari, F.; Renieri, A.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
2014-01-01 Reinthaler, Eva M.; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S.; Dahl, Hans Henrik M.; Regan, Brigid M.; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M.; Roche, Laurian; Gruber Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; Schoch, Susanne; Becker, Albert J.; Hahn, Andreas; Männik, Katrin; Toliat, Mohammad R.; Winterer, Georg; Consortium, The 1. 6. p. 1. 1. 2 European Consortium; Lerche, Holger; Nürnberg, Peter; Mefford, Heather; Scheffer, Ingrid E.; Berkovic, Samuel F.; Beckmann, Jacques S.; Renieri, Alessandra; Mucciolo, Mafalda; Mencarelli, MARIA ANTONIETTA; Epicure, Consortium; Euroepinomics, Consortium; Sander, Thomas; Jacquemont, Sebastien; Reymond, Alexandre; Zimprich, Fritz; Neubauer Bernd, A.
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization
2020-01-01 Romano, C.; Ferranti, S.; Mencarelli, M. A.; Longo, I.; Renieri, A.; Grosso, S.
2q24-q31 deletion: report of a case and review of the literature
2007-01-01 Pescucci, C.; Caselli, R.; Grosso, S.; Mencarelli, M. A.; Mari, F.; Farnetani, M. A.; Piccini, B.; Artuso, R.; Bruttini, M.; Priolo, M.; Zuffardi, O.; Gimelli, S.; Balestri, P.; Renieri, A.
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age
2010-01-01 Uliana, V.; Grosso, S.; Cioni, M.; Ariani, F.; Pap, A. F. T.; Tamburello, S.; Rossi, E.; Katzaki, E.; Mucciolo, M.; Marozza, A.; Pollazzon, M.; Mencarelli, M. A.; Mari, F.; Balestri, P.; Renieri, A.
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?
2014-01-01 Mucciolo, Mafalda; Magini, P.; Marozza, Annabella; Mongelli, P.; Mencarelli, MARIA ANTONIETTA; Hayek, G.; Tavalazzi, F.; Mari, Francesca; Seri, M.; Renieri, Alessandra; Graziano, C.
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears
2007-01-01 Caselli, R.; Mencarelli, M. A.; Papa, F. T.; Uliana, V.; Schiavone, S.; Strambi, M.; Pescucci, C.; Ariani, F.; Rossi, V.; Longo, I.; Meloni, I.; Renieri, A.; Mari, F.
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features
2008-01-01 Papa, F. T.; Mencarelli, M. A.; Caselli, R.; Katzaki, E.; Sampieri, K.; Meloni, I.; Ariani, F.; Longo, I.; Maggio, A.; Balestri, P.; Grosso, S.; Farnetani, M. A.; Berardi, R.; Mari, F.; Renieri, A.
Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
---|---|---|---|---|
13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins | 1-gen-2012 | De Francesco, S.; Galluzzi, P.; Del Longo, A.; Piozzi, E.; Renieri, Alessandra; Menicacci, C.; Mari, Francesca; Munier, F.; Hadjistilianou, Theodora; Mastrangelo, D. | - | |
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay | 1-gen-2021 | Privitera, F.; Calonaci, A.; Doddato, G.; Papa, F. T.; Baldassarri, M.; Pinto, A. M.; Mari, F.; Longo, I.; Caini, M.; Galimberti, D.; Hadjistilianou, T.; De Francesco, S.; Renieri, A.; Ariani, F. | - | |
14q12 Microdeletion syndrome and congenital variant of Rett syndrome | 1-gen-2009 | Mencarelli, M. A.; Kleefstra, T.; Katzaki, E.; Papa, F. T.; Cohen, M.; Pfundt, R.; Ariani, F.; Meloni, I.; Mari, F.; Renieri, A. | - | |
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy | 1-gen-2014 | Reinthaler, Eva M.; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S.; Dahl, Hans Henrik M.; Regan, Brigid M.; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M.; Roche, Laurian; Gruber Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; Schoch, Susanne; Becker, Albert J.; Hahn, Andreas; Männik, Katrin; Toliat, Mohammad R.; Winterer, Georg; Consortium, The 1. 6. p. 1. 1. 2 European Consortium; Lerche, Holger; Nürnberg, Peter; Mefford, Heather; Scheffer, Ingrid E.; Berkovic, Samuel F.; Beckmann, Jacques S.; Renieri, Alessandra; Mucciolo, Mafalda; Mencarelli, MARIA ANTONIETTA; Epicure, Consortium; Euroepinomics, Consortium; Sander, Thomas; Jacquemont, Sebastien; Reymond, Alexandre; Zimprich, Fritz; Neubauer Bernd, A. | - | |
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization | 1-gen-2020 | Romano, C.; Ferranti, S.; Mencarelli, M. A.; Longo, I.; Renieri, A.; Grosso, S. | - | |
2q24-q31 deletion: report of a case and review of the literature | 1-gen-2007 | Pescucci, C.; Caselli, R.; Grosso, S.; Mencarelli, M. A.; Mari, F.; Farnetani, M. A.; Piccini, B.; Artuso, R.; Bruttini, M.; Priolo, M.; Zuffardi, O.; Gimelli, S.; Balestri, P.; Renieri, A. | - | |
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age | 1-gen-2010 | Uliana, V.; Grosso, S.; Cioni, M.; Ariani, F.; Pap, A. F. T.; Tamburello, S.; Rossi, E.; Katzaki, E.; Mucciolo, M.; Marozza, A.; Pollazzon, M.; Mencarelli, M. A.; Mari, F.; Balestri, P.; Renieri, A. | - | |
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? | 1-gen-2014 | Mucciolo, Mafalda; Magini, P.; Marozza, Annabella; Mongelli, P.; Mencarelli, MARIA ANTONIETTA; Hayek, G.; Tavalazzi, F.; Mari, Francesca; Seri, M.; Renieri, Alessandra; Graziano, C. | - | |
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears | 1-gen-2007 | Caselli, R.; Mencarelli, M. A.; Papa, F. T.; Uliana, V.; Schiavone, S.; Strambi, M.; Pescucci, C.; Ariani, F.; Rossi, V.; Longo, I.; Meloni, I.; Renieri, A.; Mari, F. | - | |
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features | 1-gen-2008 | Papa, F. T.; Mencarelli, M. A.; Caselli, R.; Katzaki, E.; Sampieri, K.; Meloni, I.; Ariani, F.; Longo, I.; Maggio, A.; Balestri, P.; Grosso, S.; Farnetani, M. A.; Berardi, R.; Mari, F.; Renieri, A. | - |
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Opzioni
Scopri
Tipologia
- 1 Contributo su Rivista 349
- 1 Contributo su Rivista::1.1 Articolo in rivista 349
Data di pubblicazione
- 2020 - 2024 91
- 2010 - 2019 126
- 2000 - 2009 93
- 1992 - 1999 39
Editore
- John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551 10
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Rivista
- EUROPEAN JOURNAL OF HUMAN GENETICS 25
- AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 17
- HUMAN MUTATION 17
- CLINICAL GENETICS 14
- EUROPEAN JOURNAL OF MEDICAL GENETICS 11
- HUMAN MOLECULAR GENETICS 11
- JOURNAL OF MEDICAL GENETICS 10
- BRAIN & DEVELOPMENT 8
- AMERICAN JOURNAL OF HUMAN GENETICS 6
- NEPHROLOGY DIALYSIS TRANSPLANTATION 6
Keyword
- Humans 43
- Male 32
- Female 27
- Alport syndrome 23
- COVID-19 23
- Rett syndrome 23
- Genetics 22
- Genetics (clinical) 20
- Mutation 17
- Middle Aged 15
Lingua
- eng 342
- ita 6
- enm 1
Accesso al fulltext
- no fulltext 156
- reserved 117
- open 65
- partially open 11
Appartenenza
- Dipartimento di Biotecnologie Mediche 349
- Dipartimento di Biotecnologie, Chimica e Farmacia 10
- Dipartimento di Filologia e Critica delle Letterature Antiche e Moderne 1
- Dipartimento di Ingegneria dell'Informazione e Scienze Matematiche 12
- Dipartimento di Medicina Molecolare e dello Sviluppo 28
- Dipartimento di Scienze della Vita 6
- Dipartimento di Scienze Fisiche, della Terra e dell'Ambiente 1
- Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze 117
- Dipartimento di Scienze Sociali, Politiche e Cognitive 2
- Università degli Studi di Siena 2