1989 …2020

Research output per year

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Research Output

1998

Deletion 8p syndrome.

Digilio, M. C., Marino, B., Guccione, P., Giannotti, A., Mingarelli, R. & Dallapiccola, B., 1998, In : American Journal of Medical Genetics. 75, 5, p. 534-536 3 p.

Research output: Contribution to journalArticle

Familial recurrence of transposition of the great arteries [6]

Digilio, M. C., Marino, B., Banaudi, N., Marasini, M. & Dallapiccola, B., May 30 1998, In : Lancet. 351, 9116, p. 1661 1 p.

Research output: Contribution to journalArticle

Genetica délie cardiopatie congenite

Marino, B., Digilio, M. C., Giannotti, A., Toscano, A. & Dallapiccola, B., 1998, In : Rivista Italiana di Pediatria. 24, 4, p. 600-602 3 p.

Research output: Contribution to journalArticle

Noonan syndrome and aortic coarctation

Digilio, M. C., Marino, B., Picchio, F., Prandstraller, D., Toscano, A., Giannotti, A. & Dallapiccola, B., Nov 2 1998, In : American Journal of Medical Genetics. 80, 2, p. 160-162 3 p.

Research output: Contribution to journalArticle

Severe truncal valve dysplasia: Association with DiGeorge syndrome? [1]

Marino, B., Digilio, M. C. & Dallapiccola, B., 1998, In : Annals of Thoracic Surgery. 66, 3, p. 980 1 p.

Research output: Contribution to journalArticle

1997

An integrated model of psychological diagnosis of children with genetic syndromes and their parents

Sergo, M., Caviglia, S., Dall'oglio, A. M., Gentile, S., Milani, L., Giannotti, A. & Digilio, C., 1997, In : Genetic Counseling. 8, 2, p. 182 1 p.

Research output: Contribution to journalArticle

Chromosome 22q11 microdeletion and isolated conotruncal heart defects [2]

Digilio, M. C., Marino, B., Giannotti, A. & Dallapiccola, B., 1997, In : Archives of Disease in Childhood. 76, 1, p. 79-80 2 p.

Research output: Contribution to journalArticle

Conotruncal heart defect/microphthalmia syndrome: Delineation of an autosomal recessive syndrome

Digilio, M. C., Marino, B., Giannotti, A. & Dallapiccola, B., 1997, In : Journal of Medical Genetics. 34, 11, p. 927-929 3 p.

Research output: Contribution to journalArticle

Conotruncal heart defects and chromosome 22q11 microdeletion [2] (multiple letters)

Digilio, M. C., Marino, B., Giannotti, A., Novelli, G., Dallapiccola, B. & Webber, S. A., 1997, In : Journal of Pediatrics. 130, 4, p. 675-677 3 p.

Research output: Contribution to journalArticle

Familial deletions of chromosome 22q11.

Digilio, M. C., Marino, B., Giannotti, A. & Dallapiccola, B., 1997, In : American Journal of Medical Genetics. 73, 1, p. 95-96 2 p.

Research output: Contribution to journalArticle

Familial recurrence of transposition of the great arteries and intact ventricular septum.

Digilio, M. C., Marino, B., Giannotti, A. & Dallapiccola, B., 1997, In : American Journal of Medical Genetics. 73, 1, p. 93-94 2 p.

Research output: Contribution to journalArticle

Il progetto pilota di Registro Italiano delle Neurofibromatosi

Translated title of the contribution: The pilot project of the Italian Neurofibromatosis RegisterBalestrazzi, P., Lorenzetti, M. E., Sigorini, M., Lama, G., Avino, G., Rossi, L. N., Zanolini, C., Perniola, T., Margari, L., Panizon, F., Rabusin, M., Pavone, L., Ruggieri, M., Micheli, R., Gitti, F., Cacciari, E., Bergamaschi, R., Boscherini, B., Galasso, C., Franzoni, E. & 31 others, Migliore, M. R., Giannotti, A., Digilio, M. C., Bonioli, E., Bellini, C., Manini, C., Savasta, S., Gabrielli, O., Pellegrini, C., Iwaneiko, G., Gennari, G., Lanzi, G., Zambrino, C. A., Banchini, G., Garavelli, L., Strisciuglio, P., Romano, C., Zelante, L., Pasquinelli, A., Da Pelo, A., Biasini, G. C., Casadei, G. P., Comellini, L., Tozzola, A., Bassanetti, F., Busti, G., Scorza, P., Ciatto, C., Vullo, C., Banin, P. & Loi, M., Feb 1997, In : Rivista Italiana di Pediatria. 23, 1, p. 111-117 7 p.

Research output: Contribution to journalArticle

Intrafamilial variability of Pfeiffer-type cardiocranial syndrome

Digilio, M. C., Marino, B., Borzaga, U., Giannotti, A. & Dallapiccola, B., Dec 31 1997, In : American Journal of Medical Genetics. 73, 4, p. 480-483 4 p.

Research output: Contribution to journalArticle

Noonan syndrome with cardiac left-sided obstructive lesions.

Digilio, M. C., Marino, B., Giannotti, A. & Dallapiccola, B., Feb 1997, In : Human Genetics. 99, 2, p. 289 1 p.

Research output: Contribution to journalArticle

Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son

Giannotti, A., Digilio, M. C., Mingarelli, R., Marino, B. & Dallapiccola, B., Dec 12 1997, In : American Journal of Medical Genetics. 73, 2, p. 227-229 3 p.

Research output: Contribution to journalArticle

Radial aplasia and chromosome 22q11 deletion

Digilio, M. C., Giannotti, A., Marino, B., Guadagni, A. M., Orzalesi, M. & Dallapiccola, B., 1997, In : Journal of Medical Genetics. 34, 11, p. 942-944 3 p.

Research output: Contribution to journalArticle

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion

Digilio, M. C., Marino, B., Giannotti, A., Toscano, A. & Dallapiccola, B., 1997, In : Journal of Medical Genetics. 34, 3, p. 188-190 3 p.

Research output: Contribution to journalArticle

The Italian Pilot project of the NF Register

Balestrazzi, P., Lorenzetti, M. E., Sigorini, M., Lama, G., Avino, G., Rossi, L. N., Zanolini, C., Perniola, T., Margari, L., Panizon, F., Rabusin, M., Pavone, L., Ruggieri, M., Micheli, R., Gitti, F., Cacciari, E., Bergamaschi, R., Boscherini, B., Galasso, C., Franzoni, E. & 29 others, Migliore, M. R., Giannoti, A., Digilio, M. C., Bonioli, E., Bellini, C., Martini, C., Savasta, S., Gabrielli, O., Pellegrini, C., Iwaneiko, G., Gennari, G., Lanzi, G., Zambrino, C. A., Banchini, G., Garavelli, L., Strisciuglio, P., Romano, C., Zelante, L., Pasquinelli, A., Da Pelo, A., Biasini, G. C., Casadei, G. P., Comellini, L., Tozzola, A., Bassanetti, F., Busti, G., Scorza, P., Ciatto, C. & Pallotta, R., 1997, In : Genetic Counseling. 8, 4, p. 374-375 2 p.

Research output: Contribution to journalArticle

Tricuspid atresia and 22q11 deletion

Marino, B., Digilio, M. C., Novelli, G., Giannotti, A. & Dallapiccola, B., Oct 3 1997, In : American Journal of Medical Genetics. 72, 1, p. 40-42 3 p.

Research output: Contribution to journalArticle

Two newborns with chromosome 4 imbalances: Deletion 4q33 → q35 and ring r(4)(pterq35.2-qter)

Calabrese, G., Giannotti, A., Mingarelli, R., Di Gilio, M. C., Piemontese, M. R. & Palka, G., 1997, In : Clinical Genetics. 51, 4, p. 264-267 4 p.

Research output: Contribution to journalArticle

1996

Antiendomysial and antigliadin antibodies in patients with Down syndrome

Papadatou, B., Crinò, A., Giannotti, A., Ferretti, F., Colistro, F., Digilio, M. C., Ciampalini, P., Lucidi, V., Borelli, P. & Castro, M., 1996, In : Developmental Brain Dysfunction. 9, 2-3, p. 129-132 4 p.

Research output: Contribution to journalArticle

Associated cardiac anomalies in isolated and syndromic patients with tetralogy of fallot

Marino, B., Digilio, M. C., Grazioli, S., Formigari, R., Mingarelli, R., Giannotti, A. & Dallapiccola, B., 1996, In : The American Journal of Cardiology. 77, 7, p. 505-508 4 p.

Research output: Contribution to journalArticle

Exclusion of 22q11 deletion in Noonan syndrome with tetralogy of Fallot.

Digilio, M. C., Marino, B., Giannotti, A. & Dallapiccola, B., Apr 24 1996, In : American Journal of Medical Genetics. 62, 4, p. 413-414 2 p.

Research output: Contribution to journalArticle

Growth patterns and pubertal development in Down syndrome: A longitudinal and cross-sectional study

Crinò, A., Ciampalini, P., Digilio, M. C., Giannotti, A. & Borrelli, P., 1996, In : Developmental Brain Dysfunction. 9, 2-3, p. 72-79 8 p.

Research output: Contribution to journalArticle

Heterotaxia syndromes and 22q11 deletion [3]

Marino, B., Digilio, M. C., Giannotti, A., Dallapiccola, B. & Splitt, P., 1996, In : Journal of Medical Genetics. 33, 12, p. 1052 1 p.

Research output: Contribution to journalArticle

Orocardiodigital syndrome: An oral-facial-digital type II variant associated with atrioventricular canal

Digilio, M. C., Marino, B., Giannotti, A. & Dallapiccola, B., 1996, In : Journal of Medical Genetics. 33, 5, p. 416-418 3 p.

Research output: Contribution to journalArticle

Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome

Marino, B., Digilio, M. C., Gagliardi, M. G., Giannotti, A. & Dallapiccola, B., Jul 1996, In : Pediatric Cardiology. 17, 4, p. 278 1 p.

Research output: Contribution to journalArticle

Search for 22q11 deletion in non-syndromic conotruncal cardiac defects [1]

Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B., Takahashi, K., Ogawa, K. & Ohashi, H., 1996, In : European Journal of Pediatrics. 155, 7, p. 619-620 2 p.

Research output: Contribution to journalArticle

The mendelian basis of congenital heart defects

Dallapiccola, B., Marino, B., Digilio, M. C., Mingarelli, R., Novelli, G. & Giannotti, A., 1996, In : Cardiology in the Young. 6, 4, p. 264-271 8 p.

Research output: Contribution to journalArticle

The search for hemizygosity at 22q11 in patients with isolated cleft palate

Mingarelli, R., Digilio, M. C., Mari, A., Amati, F., Standoli, L., Giannotti, A., Novelli, G. & Dallapiccola, B., 1996, In : Journal of Craniofacial Genetics and Developmental Biology. 16, 2, p. 118-121 4 p.

Research output: Contribution to journalArticle

1995

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

Amati, F., Mari, A., Digilio, M. C., Mingarelli, R., Marino, B., Giannotti, A., Novelli, G. & Dallapiccola, B., May 1995, In : Human Genetics. 95, 5, p. 479-482 4 p.

Research output: Contribution to journalArticle

Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome.

Digilio, M. C., Marino, B., Giannotti, A., Mingarelli, R. & Dallapiccola, B., Jul 31 1995, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 58, 1, p. 97-98 2 p.

Research output: Contribution to journalArticle

Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV

Digilio, M. C., Giannotti, A., Pagnotta, G., Mingarelli, R. & Dallapiccola, B., 1995, In : Clinical Genetics. 48, 3, p. 156-159 4 p.

Research output: Contribution to journalArticle

Maternal diabetes causing DiGeorge anomaly and renal agenesis [2]

Digilio, M. C., Marino, B., Formigari, R. & Giannotti, A., 1995, In : American Journal of Medical Genetics. 55, 4, p. 513-514 2 p.

Research output: Contribution to journalArticle

Multidisciplinary evaluation of pediatric patients with Williams syndrome

Giannotti, A., Digilio, M. C., Cappa, M., Marino, B., Mingarelli, R. & Dallapiccola, B., 1995, In : Genetic Counseling. 6, 2, p. 187-188 2 p.

Research output: Contribution to journalArticle

Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

Marino, B., Gagliardi, M. G., Digilio, M. C., Polletta, B., Grazioli, S., Agostino, D., Giannotti, A. & Dallapiccola, B., Dec 1995, In : European Journal of Pediatrics. 154, 12, p. 949-952 4 p.

Research output: Contribution to journalArticle

Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome

Digilio, M. C., Marino, B., Giannotti, A. & Dallapiccola, B., Aug 1995, In : Human Genetics. 96, 2, p. 251-253 3 p.

Research output: Contribution to journalArticle

Sporadic-trichodental dysplasia with microcephaly and mental retardation

Giannotti, A., Digilio, M. C., Albertini, G., Mingarelli, R. & Dallapiccola, B., 1995, In : Clinical Dysmorphology. 4, 4, p. 334-337 4 p.

Research output: Contribution to journalArticle

Transposition of the great arteries associated with deletion of chromosome 22q11

Melchionda, S., Digilio, M. C., Mingarelli, R., Novelli, G., Scambler, P., Marino, B. & Dallapiccola, B., Jan 1 1995, In : The American Journal of Cardiology. 75, 1, p. 95-98 4 p.

Research output: Contribution to journalArticle

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

Amati, F., Mari, A., Mingarelli, R., Gennarelli, M., Digilio, M. C., Giannotti, A., Marino, B., Novelli, G. & Dallapiccola, B., 1995, In : American Journal of Medical Genetics. 57, 3, p. 483-488 6 p.

Research output: Contribution to journalArticle

1994

ALTERAZIONI IMMUNITARIE NELLA SINDROME DI DOWN

Translated title of the contribution: Alterations of the immune system in Down's syndromeMancini, S., Ciaffi, P., Giannotti, A., Crino, A., Digilio, M. C., Wietrzykowska, R., Spaini, A., Fierimonte, V. & Pichi, A., 1994, In : Aggiornamento Pediatrico. 45, 1-2, p. 35-40 6 p.

Research output: Contribution to journalArticle

Cayler cardiofacial syndrome and del 22q11: Part of the CATCH22 phenotype [3]

Giannotti, A., Digilio, M. C., Marino, B., Mingarelli, R. & Dallapiccola, B., 1994, In : American Journal of Medical Genetics. 53, 3, p. 303-304 2 p.

Research output: Contribution to journalArticle

Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype

Digilio, M. C., Mingarelli, R., Marino, B., Giannotti, A., Melchionda, S. & Dallapiccola, B., 1994, In : Clinical Genetics. 46, 3, p. 268-270 3 p.

Research output: Contribution to journalArticle

Determination of a new collagen type I α2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation

Gomez-Lira, M., Sangalli, A., Pignatti, P. F., Digilio, M. C., Giannotti, A., Carnevale, E. & Mottes, M., 1994, In : Journal of Medical Genetics. 31, 12, p. 965-968 4 p.

Research output: Contribution to journalArticle

Discrete subaortic stenosis

Digilio, M. C., Marino, B., Giannotti, A. & Dallapiccola, B., 1994, In : American Heart Journal. 127, 6, p. 1665 1 p.

Research output: Contribution to journalArticle

Exclusion of linkage with chromosome 21 in families with recurrence of non-Down's atrioventricular canal

Gennarelli, M., Novelli, G., Digilio, M. C., Giannotti, A., Marino, B. & Dallapiccola, B., Dec 1994, In : Human Genetics. 94, 6, p. 708-710 3 p.

Research output: Contribution to journalArticle