Family burden of children suffering from epidermolysis bullosa

Authors: De Stefano, S., Grassi, F. S., Lalatta, F., Scuvera, G., Brena, M., Grillo, P., Peves Rios, W. E., Guez, S.

Source: Italian journal of dermatology and venereology. 156(5):580-587

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Klinefelter Syndrome in preschool children: the importance of an early multidisciplinary approach for patients and families

Authors: Rigamonti, C., Vizziello, P., Monti, F., Dall Ara, F., Ajmone, P. F., Giavoli, C., Silibello, G., Lalatta, F.

Source: Minerva pediatrica. 71(5):395-403

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN621630737&indx=1&recIds=ETOCRN621630737

Bone involvement and mineral metabolism in Williams' syndrome

Authors: Palmieri, S., Bedeschi, M. F., Cairoli, E., Morelli, V., Lunati, M. E., Scillitani, A., Carnevale, V., Lalatta, F., Barbieri, A. M., Orsi, E., Spada, A., Chiodini, I., Eller-Vainicher, C.

Source: Journal of endocrinological investigation. 42(3):337-344

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130442912.0x000001&indx=1&recIds=ETOCvdc_100130442912.0x000001

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Authors: Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D'Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M., Tabano, S.

Source: Epigenetics. 13(9):897-909

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100075544794.0x000001&indx=1&recIds=ETOCvdc_100075544794.0x000001

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome

Authors: Magini, P., Palombo, F., Boito, S., Lanzoni, G., Mongelli, P., Rizzuti, T., Baccarin, M., Pippucci, T., Seri, M., Lalatta, F.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 170(12):3258-3264

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Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

Authors: Hill, M., Johnson, J. A., Langlois, S., Lee, H., Winsor, S., Dineley, B., Horniachek, M., Lalatta, F., Ronzoni, L., Barrett, A. N.

Source: EUROPEAN JOURNAL OF HUMAN GENETICS. 24(7):968-975

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Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis

Authors: Ronzoni, L., Peron, A., Bianchi, V., Baccarin, M., Guerneri, S., Silipigni, R., Lalatta, F., Bedeschi, M. F.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 167(7):1551-1559

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN376194151&indx=1&recIds=ETOCRN376194151

Prenatal and postnatal findings in five cases of Fryns syndrome

Authors: Peron, A., Bedeschi, M. F., Fabietti, I., Baffero, G. M., Fogliani, R., Ciralli, F., Mosca, F., Rizzuti, T., Leva, E., Lalatta, F.

Source: PRENATAL DIAGNOSIS -JOHN WILEY AND SONS LIMITED-. 34(12):1227-1230

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Unusual prenatal presentation of Rubinstein-Taybi syndrome: A case report

Authors: Bedeschi, M. F., Crippa, B. L., Colombo, L., Guez, S., Cerruti, M., Fogliani, R., Gervasini, C., Lalatta, F.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 164(10):2663-2666

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Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

Authors: Calvello, M., Tabano, S., Colapietro, P., Maitz, S., Pansa, A., Augello, C., Lalatta, F., Gentilin, B., Spreafico, F., Calzari, L.

Source: EPIGENETICS. 8(10):1053-1060

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Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?

Authors: Lalatta, F., Tint, G. S.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 161(11):2873-2879

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN341782427&indx=1&recIds=ETOCRN341782427

Prenatal phenotype of Nager syndrome and Rodriguez syndrome: variable expression of the same entity?

Authors: Gana, S., Gentilin, B., Bianchi, V., Gorla, S., Ceriani, F., Melloni, G., Lalatta, F.

Source: CLINICAL DYSMORPHOLOGY. 22(4):135-139

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN338732439&indx=1&recIds=ETOCRN338732439

Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and Williams-Beuren syndrome

Authors: Van Lierde, A., Menni, F., Bedeschi, M. F., Natacci, F., Guez, S., Vizziello, P., Costantino, M. A., Lalatta, F., Esposito, S.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 161(7):1666-1674

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN334294284&indx=1&recIds=ETOCRN334294284

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

Authors: Unger, S., Górna, M. W., Le Béchec, A., Do Vale-Pereira, S., Bedeschi, M. F., Geiberger, S., Grigelioniene, G., Horemuzova, E., Lalatta, F., Lausch, E.

Source: AMERICAN JOURNAL OF HUMAN GENETICS. 92(6):990-995

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN333660414&indx=1&recIds=ETOCRN333660414

Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome

Authors: Masserini, B., Bedeschi, M. F., Bianchi, V., Scuvera, G., Beck-Peccoz, P., Lalatta, F., Selicorni, A., Orsi, E.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 161(4):817-821

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN329679870&indx=1&recIds=ETOCRN329679870

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson

Authors: Palka, C., Antonucci, I., Alfonsi, M., Bedeschi, M.F., Mohn, A., Lalatta, F., Chiarelli, F., Palka, G., Stuppia, L.

Source: CLINICAL DYSMORPHOLOGY. 21(3):137-140

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN330233380&indx=1&recIds=ETOCRN330233380

Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome

Authors: Baffero, G. M., Somigliana, E., Crovetto, F., Paffoni, A., Persico, N., Guerneri, S., Lalatta, F., Fogliani, R., Fedele, L.

Source: PRENATAL DIAGNOSIS -JOHN WILEY AND SONS LIMITED-. 32(11):1102-1108

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN321033464&indx=1&recIds=ETOCRN321033464

An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests

Authors: Castellani, C., Perobelli, S., Bianchi, V., Seia, M., Melotti, P., Zanolla, L., Assael, B. M., Lalatta, F.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 155(4):778-785

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN292572552&indx=1&recIds=ETOCRN292572552

True hemifacial microsomia and hemimandibular hypoplasia with condylar-coronoid collapse: Diagnostic and prognostic differences

Authors: Meazzini, M. C., Brusati, R., Caprioglio, A., Diner, P., Garattini, G., Gianni, E., Lalatta, F., Poggio, C., Sesenna, E., Silvestri, A.

Source: AMERICAN JOURNAL OF ORTHODONTICS AND DENTOFACIAL ORTHOPEDICS. 139(5):e435-e447

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN290042353&indx=1&recIds=ETOCRN290042353

Clinical follow-up of young adults affected by Williams syndrome: Experience of 45 Italian patients

Authors: Bedeschi, M. F., Bianchi, V., Colli, A. M., Natacci, F., Cereda, A., Milani, D., Maitz, S., Lalatta, F., Selicorni, A.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 155(2):353-359

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN285666210&indx=1&recIds=ETOCRN285666210