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Research Output

2019

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

Rigamonti, C., Vizziello, P., Monti, F., Dall'ara, F., Ajmone, P. F., Giavoli, C., Silibello, G. & Lalatta, F., Oct 1 2019, In : Minerva Pediatrica. 71, 5, p. 395-403 9 p.

Research output: Contribution to journalArticle

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

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., 2018, In : Epigenetics. 13, 9, p. 897-909 13 p.

Research output: Contribution to journalArticle

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

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., 2018, In : Epigenetics. 13, 9, p. 897-909 13 p.

Research output: Contribution to journalArticle

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

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., 2018, In : Epigenetics. 13, 9, p. 897-909

Research output: Contribution to journalArticle

Early communicative skills of children with Klinefelter syndrome

Zampini, L., Burla, T., Silibello, G., Dall’Ara, F., Rigamonti, C., Lalatta, F. & Vizziello, P., 2018, In : Clinical Linguistics and Phonetics. 32, 7, p. 577-586 10 p.

Research output: Contribution to journalArticle

Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome

Peron, A., Boito, S., Rizzuti, T., Borzani, I., Baccarin, M., Bedeschi, M. F. & Lalatta, F., Nov 1 2018, In : Genetics in Medicine. 20, 11, p. 1483-1484 2 p.

Research output: Contribution to journalLetter

Vocal and gestural productions of 24-month-old children with sex chromosome trisomies

Zampini, L., Draghi, L., Silibello, G., Dall'Ara, F., Rigamonti, C., Suttora, C., Zanchi, P., Salerni, N., Lalatta, F. & Vizziello, P., Jan 1 2018, In : International Journal of Language and Communication Disorders. 53, 1, p. 171-181 11 p.

Research output: Contribution to journalArticle

2017

Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study

Lunati, M. E., Bedeschi, M. F., Resi, V., Grancini, V., Palmieri, E., Salera, S., Lalatta, F., Pugliese, G. & Orsi, E., Oct 1 2017, In : PLoS One. 12, 10, e0185371.

Research output: Contribution to journalArticle

Sequence variants identification at the KCNQ1OT1: TSS differentially Methylated region in isolated omphalocele cases

Bedeschi, M. F., Calvello, M., Paganini, L., Pezzani, L., Baccarin, M., Fontana, L., Sirchia, S. M., Guerneri, S., Canazza, L., Leva, E., Colombo, L., Lalatta, F., Mosca, F., Tabano, S. & Miozzo, M., Oct 18 2017, In : BMC Medical Genetics. 18, 1, 115.

Research output: Contribution to journalArticle

STAR syndrome plus: The first description of a female patient with the lethal form

Bedeschi, M. F., Giangiobbe, S., Paganini, L., Tabano, S., Silipigni, R., Colombo, L., Crippa, B. L., Lalatta, F., Guerneri, S. & Miozzo, M., 2017, In : American Journal of Medical Genetics, Part A. 173, 12, p. 3226-3230

Research output: Contribution to journalArticle

Why women do not ask for information on preconception health? A qualitative study

Bortolus, R., Oprandi, N. C., Rech Morassutti, F., Marchetto, L., Filippini, F., Agricola, E., Tozzi, A. E., Castellani, C., Lalatta, F., Rusticali, B. & Mastroiacovo, P., Jan 5 2017, In : BMC Pregnancy and Childbirth. 17, 1, p. 5

Research output: Contribution to journalArticle

Why women do not ask for information on preconception health? A qualitative study

Bortolus, R., Oprandi, N. C., Rech Morassutti, F., Marchetto, L., Filippini, F., Agricola, E., Tozzi, A. E., Castellani, C., Lalatta, F., Rusticali, B. & Mastroiacovo, P., Jan 5 2017, In : BMC Pregnancy and Childbirth. 17, 1, 5.

Research output: Contribution to journalArticle

2016

COLD-PCR and microarray: Two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma

Galbiati, S., Monguzzi, A., Damin, F., Soriani, N., Passiu, M., Castellani, C., Natacci, F., Curcio, C., Seia, M., Lalatta, F., Chiari, M., Ferrari, M. & Cremonesi, L., Feb 24 2016, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

COLD-PCR and microarray: Two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma

Galbiati, S., Monguzzi, A., Damin, F., Soriani, N., Passiu, M., Castellani, C., Natacci, F., Curcio, C., Seia, M., Lalatta, F., Chiari, M., Ferrari, M. & Cremonesi, L., 2016, In : Journal of Medical Genetics. 53, 7, p. 481-487 7 p.

Research output: Contribution to journalArticle

COLD-PCR and microarray: Two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma

Galbiati, S., Monguzzi, A., Damin, F., Soriani, N., Passiu, M., Castellani, C., Natacci, F., Curcio, C., Seia, M., Lalatta, F., Chiari, M., Ferrari, M. & Cremonesi, L., Jul 1 2016, In : Journal of Medical Genetics. 53, 7, p. 481 - 487 7 p.

Research output: Contribution to journalArticle

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

Silibello, G., Vizziello, P., Gallucci, M., Selicorni, A., Milani, D., Ajmone, P. F., Rigamonti, C., De Stefano, S., Bedeschi, M. F. & Lalatta, F., Aug 31 2016, In : Italian Journal of Pediatrics. 42, 1, 76.

Research output: Contribution to journalArticle

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

Hill, M., Johnson, J. A., Langlois, S., Lee, H., Winsor, S., Dineley, B., Horniachek, M., Lalatta, F., Ronzoni, L., Barrett, A. N., Advani, H. V., Choolani, M., Rabinowitz, R., Pajkrt, E., van Schendel, R. V., Henneman, L., Rommers, W., Bilardo, C. M., Rendeiro, P., Ribeiro, M. J. & 10 others, Rocha, J., Bay Lund, I. C., Petersen, O. B., Becher, N., Vogel, I., Stefánsdottir, V., Ingvarsdottir, S., Gottfredsdottir, H., Morris, S. & Chitty, L. S., 2016, In : European Journal of Human Genetics. 24, 7, p. 968-975 8 p.

Research output: Contribution to journalArticle

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome

Magini, P., Palombo, F., Boito, S., Lanzoni, G., Mongelli, P., Rizzuti, T., Baccarin, M., Pippucci, T., Seri, M. & Lalatta, F., 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3258-3264 7 p.

Research output: Contribution to journalArticle

Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios

Boito, S., Crovetto, F., Ischia, B., Crippa, B. L., Fabietti, I., Bedeschi, M. F., Lalatta, F., Colombo, L., Mosca, F., Fedele, L. & Persico, N., Aug 1 2016, In : Prenatal Diagnosis. 36, 8, p. 726-730 5 p.

Research output: Contribution to journalArticle

2015

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

Paganini, L., Carlessi, N., Fontana, L., Silipigni, R., Motta, S., Fiori, S., Guerneri, S., Lalatta, F., Cereda, A., Sirchia, S., Miozzo, M. & Tabano, S., Jan 1 2015, In : Epigenetics. 10, 7, p. 643-649 7 p.

Research output: Contribution to journalArticle

Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients

Lalatta, F., Motta, F., Restelli, E., Bellini, M., Miozzo, M., Gervasini, C., Dallapiccola, B., Gentilin, B. & Fedele, L., Jun 19 2015, In : Clinical Dysmorphology. 24, 3, p. 95-101 7 p.

Research output: Contribution to journalArticle

Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association

Vetro, A., Iascone, M., Limongelli, I., Ameziane, N., Gana, S., Mina, E. D., Giussani, U., Ciccone, R., Forlino, A., Pezzoli, L., Rooimans, M. A., van Essen, A. J., Messa, J., Rizzuti, T., Bianchi, P., Dorsman, J., de Winter, J. P., Lalatta, F. & Zuffardi, O., May 1 2015, In : Human Mutation. 36, 5, p. 562-568 7 p.

Research output: Contribution to journalArticle

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

Ronzoni, L., Peron, A., Bianchi, V., Baccarin, M., Guerneri, S., Silipigni, R., Lalatta, F. & Bedeschi, M. F., Jul 1 2015, In : American Journal of Medical Genetics, Part A. 167, 7, p. 1551-1559 9 p.

Research output: Contribution to journalArticle

Web-based surveillance of public information needs for informing preconception interventions

D'Ambrosio, A., Agricola, E., Russo, L., Gesualdo, F., Pandolfi, E., Bortolus, R., Castellani, C., Lalatta, F., Mastroiacovo, P. & Tozzi, A. E., Apr 16 2015, In : PLoS One. 10, 4, e0122551.

Research output: Contribution to journalArticle

2014

Prenatal and postnatal findings in five cases of Fryns syndrome

Peron, A., Bedeschi, M. F., Fabietti, I., Baffero, G. M., Fogliani, R., Ciralli, F., Mosca, F., Rizzuti, T., Leva, E. & Lalatta, F., Dec 1 2014, In : Prenatal Diagnosis. 34, 12, p. 1227-1230 4 p.

Research output: Contribution to journalArticle

Research biobanks: A unified model of informed consent to collect, store, distribute and use human biological materials and data from adults

Salvaterra, E., Lecchi, L., Giovanelli, S., Butti, B., Bardella, M. T., Bertazzi, P. A., Bosari, S., Coggi, G., Coviello, D. A., Lalatta, F., Moggio, M., Nosotti, M., Zanella, A. & Rebulla, P., Apr 1 2014, Regulating Biobanks in Humans: The Use of Adult and Children Biomaterials for Clinical and Research Purposes. Nova Science Publishers, Inc., p. 47-62 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Unusual prenatal presentation of rubinstein-taybi syndrome: A case report

Bedeschi, M. F., Crippa, B. L., Colombo, L., Guez, S., Cerruti, M., Fogliani, R., Gervasini, C. & Lalatta, F., 2014, In : American Journal of Medical Genetics, Part A. 164, 10, p. 2663-2666 4 p.

Research output: Contribution to journalArticle

2013

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

Marconi, C., Binello, P. B., Badiali, G., Caci, E., Cusano, R., Garibaldi, J., Pippucci, T., Merlini, A., Marchetti, C., Rhoden, K. J., Galietta, L. J. V., Lalatta, F., Balbi, P. & Seri, M., Jun 1 2013, In : European Journal of Human Genetics. 21, 6, p. 613-619 7 p.

Research output: Contribution to journalArticle

Author's reply regarding "Confined placental mosaicism at chorionic villous sampling: Risk factors and pregnancy outcome"

Baffero, G. M., Somigliana, E., Crovetto, F., Paffoni, A., Persico, N., Guerneri, S., Lalatta, F., Fogliani, R. & Fedele, L., Mar 2013, In : Prenatal Diagnosis. 33, 3, p. 303-304 2 p.

Research output: Contribution to journalArticle

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

Lalatta, F. & Tint, G. S., Nov 2013, In : American Journal of Medical Genetics, Part A. 161, 11, p. 2873-2879 7 p.

Research output: Contribution to journalArticle

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

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., Magnani, C., Nampoothiri, S., Nishimura, G., Petrella, D., Rojas-Ringeling, F., Utsunomiya, A., Zabel, B., Pradervand, S., Harshman, K., Campos-Xavier, B. & 4 others, Bonafé, L., Superti-Furga, G., Stevenson, B. & Superti-Furga, A., Jun 6 2013, In : American Journal of Human Genetics. 92, 6, p. 990-995 6 p.

Research output: Contribution to journalArticle

Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis

Cesaretti, C., Melloni, G., Quagliarini, D., Fogliani, R., Zaina, B., Bedeschi, M. F., Lalatta, F., Trespidi, L. & Natacci, F., Feb 2013, In : American Journal of Medical Genetics, Part A. 161, 2, p. 386-388 3 p.

Research output: Contribution to journalArticle

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

Gana, S., Gentilin, B., Bianchi, V., Gorla, S., Ceriani, F., Melloni, G. & Lalatta, F., Oct 2013, In : Clinical Dysmorphology. 22, 4, p. 135-139 5 p.

Research output: Contribution to journalArticle

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

Masserini, B., Bedeschi, M. F., Bianchi, V., Scuvera, G., Beck-Peccoz, P., Lalatta, F., Selicorni, A. & Orsi, E., Apr 2013, In : American Journal of Medical Genetics, Part A. 161, 4, p. 817-821 5 p.

Research output: Contribution to journalArticle

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

Calvello, M., Tabano, S., Colapietro, P., Maitz, S., Pansa, A., Augello, C., Lalatta, F., Gentilin, B., Spreafico, F., Calzari, L., Perotti, D., Larizza, L., Russo, S., Selicorni, A., Sirchia, S. M. & Miozzo, M., Oct 2013, In : Epigenetics. 8, 10, p. 1053-1060 8 p.

Research output: Contribution to journalArticle

2012

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

Baffero, G. M., Somigliana, E., Crovetto, F., Paffoni, A., Persico, N., Guerneri, S., Lalatta, F., Fogliani, R. & Fedele, L., Nov 2012, In : Prenatal Diagnosis. 32, 11, p. 1102-1108 7 p.

Research output: Contribution to journalArticle

Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior

Lalatta, F., Folliero, E., Cavallari, U., Di Segni, M., Gentilin, B., Fogliani, R., Quagliarini, D., Vizziello, P., Monti, F. & Gargantini, L., 2012, In : Italian Journal of Pediatrics. 38, 1, 52.

Research output: Contribution to journalArticle

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

Palka, C., Antonucci, I., Alfonsi, M., Bedeschi, M. F., Mohn, A., Lalatta, F., Chiarelli, F., Palka, G. & Stuppia, L., Jul 2012, In : Clinical Dysmorphology. 21, 3, p. 137-140 4 p.

Research output: Contribution to journalArticle

2011

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

Castellani, C., Perobelli, S., Bianchi, V., Seia, M., Melotti, P., Zanolla, L., Assael, B. M. & Lalatta, F., Jul 2011, In : Obstetrical and Gynecological Survey. 66, 7, p. 406-407 2 p.

Research output: Contribution to journalArticle

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

Castellani, C., Perobelli, S., Bianchi, V., Seia, M., Melotti, P., Zanolla, L., Assael, B. M. & Lalatta, F., Apr 2011, In : American Journal of Medical Genetics, Part A. 155, 4, p. 778-785 8 p.

Research output: Contribution to journalArticle

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

Bedeschi, M. F., Bianchi, V., Colli, A. M., Natacci, F., Cereda, A., Milani, D., Maitz, S., Lalatta, F. & Selicorni, A., Feb 2011, In : American Journal of Medical Genetics, Part A. 155, 2, p. 353-359 7 p.

Research output: Contribution to journalArticle

Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome

Bulfamante, G., Gana, S., Avagliano, L., Fabietti, I., Gentilin, B. & Lalatta, F., Sep 2011, In : Prenatal Diagnosis. 31, 9, p. 910-911 2 p.

Research output: Contribution to journalArticle

Double pituitary and conserved function in an adult patient with neurofibromatosis type 1

Filopanti, M., Verga, U., Ermetici, F., Natacci, F., Lalatta, F., Avignone, S., Trespidi, L., Beck-Peccoz, P., Mantovani, G., Lania, A. G. & Spada, A., Jul 1 2011, In : Journal of Clinical Endocrinology and Metabolism. 96, 7, p. 1953-1954 2 p.

Research output: Contribution to journalArticle

Full cold-PCR protocol for noninvasive prenatal diagnosis of genetic diseases

Galbiati, S., Brisci, A., Lalatta, F., Seia, M., Makrigiorgos, G. M., Ferrari, M. & Cremonesi, L., Jan 2011, In : Clinical Chemistry. 57, 1, p. 136-138 3 p.

Research output: Contribution to journalArticle