1989 …2020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

1989

Atrioventricular canal associated with trisomy 9

Marino, B., Digilio, M. C., Giannotti, A. & Dallapiccola, B., 1989, In : Chest. 96, 6, p. 1420-1421 2 p.

Research output: Contribution to journalArticle

1991

Abitudini di vita e attività fisica del bambino operato per cardiopatia congenita.

Translated title of the contribution: The life style and physical activity of the child operated on for congenital cardiopathyDrago, F., Digilio, M. C., Giannico, S., Giannotti, A., Santilli, A., Turchetta, A. & Calzolari, A., Jun 1991, In : Minerva Pediatrica. 43, 6, p. 427-432 6 p.

Research output: Contribution to journalArticle

Trisoma 18 associata a canale atrioventricolare.

Translated title of the contribution: Trisomy 18 associated with atrioventricular canalDigilio, M. C., Marino, B., Giannotti, A. & Dallapiccola, B., Apr 1991, In : Giornale Italiano di Cardiologia. 21, 4, p. 433-435 3 p.

Research output: Contribution to journalArticle

Turner's syndrome with atrioventricular canal

Marino, B., Digilio, M. C., Papa, M., Giannotti, A. & Dallapiccola, B., Dec 1991, In : Pediatric Cardiology. 12, 4, p. 245-246 2 p.

Research output: Contribution to journalArticle

1992

Brief clinical report: New case of Bartsocas-Papas syndrome surviving at 20 months

Giannotti, A., Digilio, M. C., Standoli, L., Zama, M. & Dallapiccola, B., 1992, In : American Journal of Medical Genetics. 42, 5, p. 733-735 3 p.

Research output: Contribution to journalArticle

Deletion 11q23→qter (Jacobsen syndrome). Report of three new patients

Obregon, M. G., Mingarelli, R., Digilio, M. C., Zelante, L., Giannotti, A., Sabatino, G. & Dallapiccola, B., 1992, In : Annales de Genetique. 35, 4, p. 208-212 5 p.

Research output: Contribution to journalArticle

Delezione parziale del braccio lungo del cromosoma 17. Presentazione di un caso clinico.

Translated title of the contribution: Partial deletion of the long arm of chromosome 17. Presentation of a clinical caseGiannotti, A., Alessandri, A., Reale, A., Digilio, M. C. & Valorani, M. G., Jan 1992, In : Minerva Pediatrica. 44, 1-2, p. 51-54 4 p.

Research output: Contribution to journalArticle

Familial aplasia cutis congenita and coarctation of the aorta

Dallapiccola, B., Giannotti, A., Marino, B., Digilio, C. & Obregon, G., 1992, In : American Journal of Medical Genetics. 43, 4, p. 762-763 2 p.

Research output: Contribution to journalArticle

Familial postaxial acrofacial dysostosis syndrome

Giannotti, A., Digilio, M. C., Virgili, Q., Obregon, M. G., Guadagni, A. M., Ventura, T. & Dallapiccola, B., 1992, In : Journal of Medical Genetics. 29, 10, p. 752 1 p.

Research output: Contribution to journalArticle

Nonrandom association of atrioventricular canal and del (8p) syndrome

Marino, B., Reale, A., Giannotti, A., Digilio, M. C. & Dallapiccola, B., 1992, In : American Journal of Medical Genetics. 42, 4, p. 424-427 4 p.

Research output: Contribution to journalArticle

Radiographic findings in Wiedemann-Rautenstrauch syndrome

Obregon, M. G., Bergami, G. L., Giannotti, A., Digilio, M. C., Virgili, Q., Guadagni, A. M., Pompei, E. & Dallapiccola, B., Oct 1992, In : Pediatric Radiology. 22, 6, p. 474-475 2 p.

Research output: Contribution to journalArticle

1993

Atrioventricular canal and 8p- syndrome [3]

Digilio, M. C., Giannotti, A., Marino, B. & Dallapiccola, B., 1993, In : American Journal of Medical Genetics. 47, 3, p. 437-438 2 p.

Research output: Contribution to journalArticle

Discrete membranous subaortic stenosis in siblings

Digilio, M. C., Giannotti, A., Marino, B., Obregon, M. G. & Dallapiccola, B., Jul 1993, In : European Journal of Pediatrics. 152, 7, p. 622 1 p.

Research output: Contribution to journalArticle

Down’s syndrome and celiac disease: The prevalence of high iga-antigliadin antibodies and hla-dr and dq antigens in trisomy 21

Castro, M., Crinò, A., Papadatou, B., Purpura, M., Giannotti, A., Ferretti, F., Colistro, F., Mottola, L., Digilio, M. C., Lucidi, V. & Borrelli, P., 1993, In : Journal of Pediatric Gastroenterology and Nutrition. 16, 3, p. 265-268 4 p.

Research output: Contribution to journalArticle

Interstitial deletion del(17)(q21.3q23 or 24.2) syndrome [1]

Dallapiccola, B., Digilio, C., Obregon, M. G. & Giannotti, A., 1993, In : Clinical Genetics. 43, 1, p. 54-55 2 p.

Research output: Contribution to journalArticle

Risk of Congenital Heart Defects in Relatives of Patients With Atrioventricular Canal

Digilio, M. C., Marino, B., Cicini, M. P., Giannotti, A., Formigari, R. & Dallapiccola, B., 1993, In : American Journal of Diseases of Children. 147, 12, p. 1295-1297 3 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

Familial atrioventricular septal defect: Possible genetic mechanism

Digilio, M. C., Marino, B., Glannot, A. & Dallapiccola, B., 1994, In : Heart. 72, 3, p. 301 1 p.

Research output: Contribution to journalArticle

Genetica delle cardiopatie congenite.

Translated title of the contribution: Genetics of congenital heart diseasesDallapiccola, B., Mingarelli, R., Digilio, M. C., Marino, B. & Novelli, G., Feb 1994, In : Giornale Italiano di Cardiologia. 24, 2, p. 155-166 12 p.

Research output: Contribution to journalArticle

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: Regional assignment of a presumptive gene involved in corpus callosum development

Digilio, M. C., Giannotti, A., Floridia, G., Uccellatore, F., Mingarelli, R., Danesino, C., Dallapiccola, B. & Zuffardi, O., Mar 1994, In : Journal of Medical Genetics. 31, 3, p. 238-241 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

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

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