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Research Output 2004 2019

2019

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

Alesi, V., Loddo, S., Calì, F., Orlando, V., Genovese, S., Ferretti, D., Calacci, C., Calvieri, G., Falasca, R., Ulgheri, L., Drago, F., Dallapiccola, B., Baban, A. & Novelli, A., May 30 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Phenotype
Nose
Language Development Disorders
Haploinsufficiency
Muscle Hypotonia

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Digilio, M. C., Pugnaloni, F., De Luca, A., Calcagni, G., Baban, A., Dentici, M. L., Versacci, P., Dallapiccola, B., Tartaglia, M. & Marino, B., 2019, In : Clinical Genetics. 95, 2, p. 268-276 9 p.

Research output: Contribution to journalArticle

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wödl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K. & 85 others, De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., López-González, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., McKee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Calvo, A. S., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Sonmez, F. M., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., Jan 29 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Intellectual Disability
Coffin-Siris syndrome

Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids)

Norrish, G., Ding, T., Field, E., Ziólkowska, L., Olivotto, I., Limongelli, G., Anastasakis, A., Weintraub, R., Biagini, E., Ragni, L., Prendiville, T., Duignan, S., McLeod, K., Ilina, M., Fernández, A., Bökenkamp, R., Baban, A., Kubuš, P., Daubeney, P. E. F., Sarquella-Brugada, G. & 29 others, Cesar, S., Marrone, C., Bhole, V., Medrano, C., Uzun, O., Brown, E., Gran, F., Castro, F. J., Stuart, G., Vignati, G., Barriales-Villa, R., Guereta, L. G., Adwani, S., Linter, K., Bharucha, T., Garcia-Pavia, P., Rasmussen, T. B., Calcagnino, M. M., Jones, C. B., De Wilde, H., Toru-Kubo, J., Felice, T., Mogensen, J., Mathur, S., Reinhardt, Z., O'Mahony, C., Elliott, P. M., Omar, R. Z. & Kaski, J. P., Aug 14 2019, In : JAMA Cardiology.

Research output: Contribution to journalArticle

Hypertrophic Cardiomyopathy
Sudden Cardiac Death
Implantable Defibrillators
Ventricular Tachycardia
Validation Studies
ivabradine
Cardiomyopathies
Duchenne Muscular Dystrophy
Dilated Cardiomyopathy
Heart Rate

Hidden Complexity in Routine Adult and Pediatric Arrhythmias Interpretation: The Future of Precision Electrocardiology

Leonelli, F. M., De Ponti, R., Drago, F., Baban, A., Cortez, D., Griselli, M. & Bagliani, G., Jun 11 2019, In : Cardiac Electrophysiology Clinics. 11, 2, p. 391-404 14 p.

Research output: Contribution to journalReview article

Cardiac Arrhythmias
Electrocardiography
Pediatrics
Muscle Cells
Maintenance

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice

Mastromoro, G., Calcagni, G., Versacci, P., Putotto, C., Chinali, M., Lambiase, C., Unolt, M., Pelliccione, E., Anaclerio, S., Caprio, C., Cioffi, S., Bilio, M., Baban, A., Drago, F., Digilio, M. C., Marino, B. & Baldini, A., Apr 1 2019, In : PLoS One. 14, 4, p. e0211170

Research output: Contribution to journalArticle

DiGeorge Syndrome
pulmonary artery
Pulmonary Artery
Defects
mice
Noonan Syndrome
Congenital Heart Defects
Cardiomyopathies
Mutation
Cytidine Monophosphate
2018

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Digilio, M. C., Pugnaloni, F., De Luca, A., Calcagni, G., Baban, A., Dentici, M. L., Versacci, P., Dallapiccola, B., Tartaglia, M. & Marino, B., May 3 2018, In : Clinical Genetics.

Research output: Contribution to journalReview article

Signal Transduction
Polydactyly
Inborn Genetic Diseases
Congenital Heart Defects
Cilia
Bradycardia
Down Syndrome
Atrioventricular Block
Sick Sinus Syndrome
Atrioventricular Node

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies

Calcagni, G., Adorisio, R., Martinelli, S., Grutter, G., Baban, A., Versacci, P., Digilio, M. C., Drago, F., Gelb, B. D., Tartaglia, M. & Marino, B., Apr 2018, In : Heart Failure Clinics. 14, 2, p. 225-235 11 p.

Research output: Contribution to journalReview article

Hypertrophic Cardiomyopathy
Heart Failure
Congenital Heart Defects
Sirolimus
Mutation

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

Baban, A., Magliozzi, M., Loeys, B., Adorisio, R., Alesi, V., Secinaro, A., Corica, B., Vricella, L., Dietz, H. C., Drago, F., Novelli, A. & Amodeo, A., Sep 15 2018, In : BMC Medical Genetics. 19, 1, p. 170

Research output: Contribution to journalArticle

Loeys-Dietz Syndrome
Mosaicism
Mutation
Cheek
Iris

Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience

Baban, A., Cantarutti, N., Adorisio, R., Lombardi, R., Calcagni, G., Piano Mortari, E., Dallapiccola, B., Marino, B., Iorio, F. S., Carsetti, R., Digilio, M. C., Giannico, S., Drago, F. & Carotti, A., Oct 1 2018, In : International Journal of Cardiology. 268, p. 100-105 6 p.

Research output: Contribution to journalArticle

Heterotaxy Syndrome
Survival
Spleen
Transplants
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Glaucoma
Phenotype
Ectopia Lentis
Marfan Syndrome
Transposition of Great Vessels
Joint Instability
Pharmacology
Cutis Laxa
Primary Dysautonomias
Ehlers-Danlos Syndrome
Joint Instability
Pharmacology
Cutis Laxa
Primary Dysautonomias
Ehlers-Danlos Syndrome

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

van der Sluijs, E. P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wödl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K. & 85 others, De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., López-González, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., McKee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Sanchis Calvo, A., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Mujgan Sonmez, F., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., Oct 22 2018, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Intellectual Disability
Eyelashes
Hypertrichosis
Exome
Eyebrows
2017

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

Calcagni, G., Limongelli, G., D'Ambrosio, A., Gesualdo, F., Digilio, M. C., Baban, A., Albanese, S. B., Versacci, P., De Luca, E., Ferrero, G. B., Baldassarre, G., Agnoletti, G., Banaudi, E., Marek, J., Kaski, J. P., Tuo, G., Russo, M. G., Pacileo, G., Milanesi, O., Messina, D. & 7 others, Marasini, M., Cairello, F., Formigari, R., Brighenti, M., Dallapiccola, B., Tartaglia, M. & Marino, B., Oct 15 2017, In : International Journal of Cardiology. 245, p. 92-98 7 p.

Research output: Contribution to journalArticle

Morbidity
Mortality
Mutation
Survival
Hypertrophic Cardiomyopathy
Congenital Heart Defects
Dilatation
Hypoplastic Left Heart Syndrome
Aortic Coarctation
Atrial Heart Septal Defects

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

Calcagni, G., Unolt, M., Digilio, M. C., Baban, A., Versacci, P., Tartaglia, M., Baldini, A. & Marino, B., Sep 2 2017, In : Expert Review of Molecular Diagnostics. 17, 9, p. 861-870 10 p.

Research output: Contribution to journalReview article

Congenital Heart Defects
Heart Diseases
Genotype
Noonan Syndrome
Phenotype
2016

Assessment of copy number variations in 120 patients with Poland syndrome

Vaccari, C., Tassano, E., Torre, M., Gimelli, S., Divizia, M. T., Romanini, M. V., Bossi, S., Musante, I., Valle, M., Senes, F., Catena, N., Bedeschi, M. F., Baban, A., Calevo, M. G., Acquaviva, M., Lerone, M., Ravazzolo, R. & Puliti, A., Nov 25 2016, In : BMC Medical Genetics. 17, 1, 89.

Research output: Contribution to journalArticle

Poland Syndrome
Pectoralis Muscles
Comparative Genomic Hybridization
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Chromosome Deletion

Assessment of copy number variations in 120 patients with Poland syndrome

Vaccari, C. M., Tassano, E., Torre, M., Gimelli, S., Divizia, M. T., Romanini, M. V., Bossi, S., Musante, I., Valle, M., Senes, F., Catena, N., Bedeschi, M. F., Baban, A., Calevo, M. G., Acquaviva, A. M., Lerone, M., Ravazzolo, R. & Puliti, A., 2016, In : BMC Medical Genetics. 17, 1

Research output: Contribution to journalArticle

Congenital heart defects in Noonan syndrome and RIT1 mutation

Giulio, C., Baban, A., Lepri, F. R., Marino, B., Tartaglia, M. & Digilio, M. C., Dec 1 2016, In : Genetics in Medicine. 18, 12, p. 1320 1 p.

Research output: Contribution to journalLetter

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review

Calcagni, G., Baban, A., De Luca, E., Leonardi, B., Pongiglione, G. & Digilio, M. C., Mar 1 2016, In : American Journal of Medical Genetics, Part A. 170, 3, p. 665-669 5 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Pathologic Dilatations
Coronary Vessels
Pulmonary Valve Stenosis
Mutation
Cardiovascular Abnormalities
Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects

Heterotaxy syndrome with and without spleen: Different infection risk and management

Piano Mortari, E., Baban, A., Cantarutti, N., Bocci, C., Adorisio, R. & Carsetti, R., Nov 15 2016, In : Journal of Allergy and Clinical Immunology.

Research output: Contribution to journalArticle

Human B-cell memory is shaped by age- and tissue-specific T-independent and GC-dependent events

Aranburu, A., Piano Mortari, E., Baban, A., Giorda, E., Cascioli, S., Marcellini, V., Scarsella, M., Ceccarelli, S., Corbelli, S., Cantarutti, N., De Vito, R., Inserra, A., Nicolosi, L., Lanfranchi, A., Porta, F., Cancrini, C., Finocchi, A. & Carsetti, R., 2016, (Accepted/In press) In : European Journal of Immunology.

Research output: Contribution to journalArticle

B-Lymphocytes
Germinal Center
Immunoglobulin M
Spleen
Mutation
2015

Cardiovascular malformations in Adams-Oliver syndrome

Digilio, C. M., Marino, B., Baban, A. & Dallapiccola, B., May 1 2015, In : American Journal of Medical Genetics, Part A. 167, 5, p. 1175-1177 3 p.

Research output: Contribution to journalArticle

Hypoplastic left heart syndrome and 21q22.3 deletion

Ciocca, L., Digilio, M. C., Lombardo, A., D'Elia, G., Baban, A., Capolino, R., Petrocchi, S., Russo, S., Sirleto, P., Roberti, M. C., Marino, B., Angioni, A. & Dallapiccola, B., Mar 1 2015, In : American Journal of Medical Genetics, Part A. 167, 3, p. 579-586 8 p.

Research output: Contribution to journalArticle

Hypoplastic Left Heart Syndrome
Aortic Coarctation
Congenital Heart Defects
Aortic Valve Stenosis
Fluorescence In Situ Hybridization
2014

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

Lepri, F. R., Scavelli, R., Digilio, M. C., Gnazzo, M., Grotta, S., Dentici, M. L., Pisaneschi, E., Sirleto, P., Capolino, R., Baban, A., Russo, S., Franchin, T., Angioni, A. & Dallapiccola, B., Jan 23 2014, In : BMC Medical Genetics. 15, 1, 14.

Research output: Contribution to journalArticle

Noonan Syndrome
Loose Anagen Hair Syndrome
Costello Syndrome
LEOPARD Syndrome
Gene Components

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

Bárcena, C., Quesada, V., De Sandre-Giovannoli, A., Puente, D. A., Fernández-Toral, J., Sigaudy, S., Baban, A., Lévy, N., Velasco, G. & López-Otín, C., 2014, In : BMC Medical Genetics. 15

Research output: Contribution to journalArticle

Exome
Mutation
Tooth Eruption
Lipodystrophy
Frameshift Mutation

Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation

Baban, A., Pitto, L., Pulignani, S., Cresci, M., Mariani, L., Gambacciani, C., Digilio, M. C., Pongiglione, G. & Albanese, S., 2014, In : American Journal of Medical Genetics, Part A. 164, 6, p. 1419-1424 6 p.

Research output: Contribution to journalArticle

Aortic Coarctation
Mutation
Congenital Heart Defects
Brachydactyly
Supination

Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot

Baban, A., Postma, A. V., Marini, M., Trocchio, G., Santilli, A., Pelegrini, M., Sirleto, P., Lerone, M., Albanese, S. B., Barnett, P., Boogerd, C. J., Dallapiccola, B., Digilio, M. C., Ravazzolo, R. & Pongiglione, G., Dec 1 2014, In : American Journal of Medical Genetics, Part A. 164, 12, p. 3100-3107 8 p.

Research output: Contribution to journalArticle

Tetralogy of Fallot
Mutation
Genetic Databases
Atrial Heart Septal Defects
Exons

The ARID1B phenotype: What we have learned so far

Santen, G. W. E., Clayton-Smith, J., Adachi-Fukuda, M., AlKindy, A., Baban, A., Berry, K., Canham, N., Collins, A., Chrzanowska, K., Gardham, A., Horn, D., Kato, M., Kosho, T., Krajewska-Walasek, M., Kramer, N., Maas, S., Maystadt, I., Mancini, G., McKee, S., Milunski, J. & 11 others, Miyake, N., Mizuno, S., Ohashi, H., Okamoto, N., Robertson, S., Soares, G., Tanabe, S., Vincent-Delorme, C., de Vries, B., Wieczorek, D. & Wilson, L., 2014, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 166, 3, p. 276-289 14 p.

Research output: Contribution to journalArticle

Exome
Phenotype
Intellectual Disability
Genes
Genome
2013

Atrioventricular canal defect in patients with RASopathies

Digilio, M. C., Romana Lepri, F., Lisa Dentici, M., Henderson, A., Baban, A., Cristina Roberti, M., Capolino, R., Versacci, P., Surace, C., Angioni, A., Tartaglia, M., Marino, B. & Dallapiccola, B., Feb 2013, In : European Journal of Human Genetics. 21, 2, p. 200-204 5 p.

Research output: Contribution to journalArticle

Mutation
Congenital Heart Defects
Mitral Valve
Subvalvular Aortic Stenosis
Noonan Syndrome

Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients

Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., Vijfhuizen, L., van der Wielen, M. J. R., Vollebregt, M. J. E., Breuning, M. H., Kriek, M., van Haeringen, A., den Dunnen, J. T., Hoischen, A., Clayton-Smith, J., de Vries, B. B. A. & 61 others, Hennekam, R. C. M., van Belzen, M. J., Almureikhi, M., Baban, A., Barbosa, M., Ben-Omran, T., Berry, K., Bigoni, S., Boute, O., Brueton, L., van der Burgt, I., Canham, N., Chandler, K. E., Chrzanowska, K., Collins, A. L., de Toni, T., Dean, J., den Hollander, N. S., Flore, L. A., Fryer, A., Gardham, A., Graham, J. M., Harrison, V., Horn, D., Jongmans, M. C., Josifova, D., Kant, S. G., Kapoor, S., Kingston, H., Kini, U., Kleefstra, T., Malgorzata Krajewska-Walasek, K-W., Kramer, N., Maas, S. M., Maciel, P., Grazia, M. S. M., Maystadt, I., McKee, S., Milunsky, J. M., Nampoothiri, S., Newbury-Ecob, R., Nikkel, S. M., Parker, M. J., Pérez-Jurado, L. A., Robertson, S. P., Rooryck, C., Shears, D., Silengo, M., Singh, A., Smigiel, R., Soares, G., Splitt, M., Stewart, H., Sweeney, E., Tassabehji, M., Temple, I. K., Tuysuz, B., van Eerde, A. M., Vincent-Delorme, C., Wilson, L. C. & Yesil, G., Nov 2013, In : Human Mutation. 34, 11, p. 1519-1528 10 p.

Research output: Contribution to journalArticle

Genotype
Phenotype
Genetic Association Studies
Exome
Intellectual Disability
Pulmonary Valve Stenosis
Congenital Heart Defects
Developmental Disabilities
Atrial Heart Septal Defects
Ventricular Heart Septal Defects

Il consenso informato in Cardiologia e Cardiochirurgia Pediatrica

Translated title of the contribution: Informed consent in pediatric cardiology and cardiac surgeryAlbanese, S. B., Valentina, S., Sabrina, M., Giulio, C., Anwar, B., Francesco, S., Giacomo, P. & Calabrò, M. P., Sep 2013, In : Giornale Italiano di Cardiologia. 14, 9, p. 613-621 9 p.

Research output: Contribution to journalArticle

Cardiology
Informed Consent
Thoracic Surgery
Pediatrics
Consent Forms

Syndromic non-compaction of the left ventricle: Associated chromosomal anomalies

Digilio, M., Bernardini, L., Gagliardi, M., Versacci, P., Baban, A., Capolino, R., Dentici, M., Roberti, M., Angioni, A., Novelli, A., Marino, B. & Dallapiccola, B., Oct 2013, In : Clinical Genetics. 84, 4, p. 362-367 6 p.

Research output: Contribution to journalArticle

Heart Ventricles
Comparative Genomic Hybridization
Chromosomes
Cardiomyopathies
Hypopigmentation
2012

Familial Poland anomaly revisited

Baban, A., Torre, M., Costanzo, S., Gimelli, S., Bianca, S., Divizia, M. T., Sénès, F. M., Garavelli, L., Rivieri, F., Lerone, M., Valle, M., Ravazzolo, R. & Calevo, M. G., Jan 2012, In : American Journal of Medical Genetics, Part A. 158 A, 1, p. 140-149 10 p.

Research output: Contribution to journalArticle

Poland Syndrome
Pectoralis Muscles
Upper Extremity
Recurrence
Thorax

Hand and upper limb anomalies in poland syndrome: A new proposal of classification

Catena, N., Divizia, M. T., Calevo, M. G., Baban, A., Torre, M., Ravazzolo, R., Lerone, M. & Sénès, F. M., Oct 2012, In : Journal of Pediatric Orthopaedics. 32, 7, p. 727-731 5 p.

Research output: Contribution to journalArticle

Poland Syndrome
Upper Extremity
Hand
Pectoralis Muscles
Orthopedics

RDDR: A dysmorphology diagnostic network for newborns in central Italy

Lisa Dentici, M., Tarani, L., Digilio, M. C., Mingarelli, R., Baban, A., Zampino, G., Romagnoli, C., De Curtis, M. & Dallapiccola, B., Oct 2012, In : Journal of Maternal-Fetal and Neonatal Medicine. 25, SUPPL.4, p. 113-115 3 p.

Research output: Contribution to journalArticle

Italy
Newborn Infant
Online Systems
Neonatology
Documentation

RDDR: a dysmorphology diagnostic network for newborns in central Italy.

Dentici, M. L., Tarani, L., Digilio, M. C., Mingarelli, R., Baban, A., Zampino, G., Romagnoli, C., De Curtis, M. & Dallapiccola, B., Oct 2012, In : Journal of Maternal-Fetal and Neonatal Medicine. 25 Suppl 4, p. 121-123 3 p.

Research output: Contribution to journalArticle

Italy
Newborn Infant
Online Systems
Neonatology
Documentation
2011

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

Digilio, M. C., Bernardini, L., Lepri, F., Giuffrida, M. G., Guida, V., Baban, A., Versacci, P., Capolino, R., Torres, B., De Luca, A., Novelli, A., Marino, B. & Dallapiccola, B., Sep 2011, In : American Journal of Medical Genetics, Part A. 155, 9, p. 2196-2202 7 p.

Research output: Contribution to journalArticle

Ebstein Anomaly
Genetic Heterogeneity
Genes
Mutation
Tricuspid Valve

RASopathies: Clinical diagnosis in the first year of life

Digilio, M. C., Lepri, F., Baban, A., Dentici, M. L., Versacci, P., Capolino, R., Ferese, R., De Luca, A., Tartaglia, M., Marino, B. & Dallapiccola, B., Sep 2011, In : Molecular Syndromology. 1, 6, p. 282-289 8 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Congenital Heart Defects
Hair
Mutation
Costello Syndrome
2010

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Marini, M., Bocciardi, R., Gimelli, S., Di Duca, M., Divizia, M. T., Baban, A., Gaspar, H., Mammi, I., Garavelli, L., Cerone, R., Emma, F., Bedeschi, M. F., Tenconi, R., Sensi, A., Salmaggi, A., Bengala, M., Mari, F., Colussi, G., Szczaluba, K., Antonarakis, S. E. & 3 others, Seri, M., Lerone, M. & Ravazzolo, R., Jul 2010, In : Genetics in Medicine. 12, 7, p. 431-439 9 p.

Research output: Contribution to journalArticle

Nail-Patella Syndrome
Mosaicism
Point Mutation
Parents
Mutation

A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes

Gimelli, S., Chrast, J., Baban, A., Henrichsen, C. N., Lerone, M., Zuffardi, O., Gimelli, G. & Reymond, A., May 2010, In : American Journal of Medical Genetics, Part A. 152, 5, p. 1285-1294 10 p.

Research output: Contribution to journalArticle

Williams Syndrome
Phenotype
Chromosomes, Human, Pair 12
Failure to Thrive
Chromosomes, Human, Pair 7

Dextrocardia in patients with Poland syndrome: Phenotypic characterization provides insight into the pathogenesis

Torre, M., Baban, A., Buluggiu, A., Costanzo, S., Bricco, L., Lerone, M., Bianca, S., Gatti, G. L., Sénès, F. M., Valle, M. & Calevo, M. G., May 2010, In : Journal of Thoracic and Cardiovascular Surgery. 139, 5, p. 1177-1182 6 p.

Research output: Contribution to journalArticle

Poland Syndrome
Dextrocardia
Ribs
Situs Inversus
Pectoralis Muscles

Hypoplastic left heart syndrome in patients with kabuki syndrome

Digilio, M. C., Baban, A., Marino, B. & Dallapiccola, B., Oct 2010, In : Pediatric Cardiology. 31, 7, p. 1111-1113 3 p.

Research output: Contribution to journalArticle