Lalatta, Faustina: шукати на сайті Z-Library

Primignani, Paola, Trotta, Luca, Castorina, Pierangela, Lalatta, Faustina, Sironi, Francesca, Radaelli, Chiara, Degiorgio, Dario, Curcio, Cristina, Travi, Maurizio, Ambrosetti, Umberto, Cesarani, Anto

Рік:

2012

Мова:

english

Файл:

PDF, 109 KB

english, 2012

Analysis of the GJB2 and GJB6 Genes in Italian Patients with Nonsyndromic Hearing Loss: Frequencies, Novel Mutations, Genotypes, and Degree of Hearing Loss

Журнал:

Genetic Testing and Molecular Biomarkers

Рік:

2009

Мова:

english

Файл:

PDF, 8.04 MB

english, 2009

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

Cesaretti, Claudia, Melloni, Giulia, Quagliarini, Donatella, Fogliani, Roberto, Zaina, Barbara, Bedeschi, Maria Francesca, Lalatta, Faustina, Trespidi, Laura, Natacci, Federica

Журнал:

Orphanet Journal of Rare Diseases

Рік:

2013

Мова:

english

Файл:

PDF, 84 KB

english, 2013

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

Maria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, Lorenzo Colombo, Federica Natacci, Sabrina Giglio, Elena Andreucci, Laura Trespidi, Barbara Acaia, Andrea Superti Furga, Faustina Lalatta

Журнал:

Рік:

2011

Мова:

english

Файл:

PDF, 1.55 MB

english, 2011

Maternal input to children with sex chromosome trisomies

Zampini, Laura, Ferrante, Camilla, Silibello, Gaia, Dall'Ara, Francesca, Rigamonti, Claudia, Zanchi, Paola, Vizziello, Paola Giovanna, Lalatta, Faustina, Costantino, Maria Antonella

Журнал:

International Journal of Language & Communication Disorders

Рік:

2020

Файл:

PDF, 186 KB

2020

Cardio-facio-cutaneous (CFC) syndrome: Report of an adult without mental retardation

Manoukian, Siranoush, Lalatta, Faustina, Selicorni, Angelo, Tadini, Gianluca, Cavalli, Riccardo, Neri, Giovanni

Журнал:

American Journal of Medical Genetics

Рік:

1996

Файл:

PDF, 372 KB

1996

Malignant melanoma and Charcot-Marie-Tooth disease: A further case

Manoukian, Siranoush, Briscioli, Vincenza, Lalatta, Faustina

Журнал:

American Journal of Medical Genetics

Рік:

1997

Мова:

english

Файл:

PDF, 43 KB

english, 1997

Thomas syndrome: Clinical variability and autosomal recessive inheritance

Briscioli, Vincenza, Lalatta, Faustina, Rizzuti, Tommaso, Fesslová, Vlasta

Журнал:

American Journal of Medical Genetics

Рік:

1997

Мова:

english

Файл:

PDF, 267 KB

english, 1997

Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling

Faustina Lalatta, Sarah Salmona, Roberto Fogliani, Tommaso Rizzuti, Umberto Nicolini

Журнал:

Pierpaolo Mastroiacovo, Lorenzo Davide Botto, Denise Pontes Cavalcanti, Faustina Lalatta, Angelo Selicorni, Alberto Eugenio Tozzi, Dante Baronciani, Anna Chiara Cigolotti, Sergio Giordano, Fabio Petro

Рік:

1998

Мова:

english

Файл:

PDF, 114 KB

english, 1998

Limb anomalies following chorionic villus sampling: A registry based case-control study

Журнал:

Рік:

1992

Мова:

english

Файл:

PDF, 681 KB

english, 1992

Three cases with de novo 6q imbalance and variable prenatal phenotype

Francesca R. Grati, Faustina Lalatta, Licia Turolla, Ugo Cavallari, Barbara Gentilin, Franca Rossella, Irene Cetin, Patrizio Antonazzo, Maria Bellotti, Francesca Dulcetti, Demetrio Baldo, Romano Tenco

Журнал:

Рік:

2005

Мова:

english

Файл:

PDF, 210 KB

english, 2005

Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs

Federica Natacci, Maria Baffico, Ugo Cavallari, Maria Francesca Bedeschi, Isabella Mura, Alessio Paffoni, Paolo Levi Setti, Maurizia Baldi, Faustina Lalatta

Журнал:

Рік:

2008

Мова:

english

Файл:

PDF, 91 KB

english, 2008

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

Maria Francesca Bedeschi, Vera Bianchi, Anna Maria Colli, Federica Natacci, Anna Cereda, Donatella Milani, Silvia Maitz, Faustina Lalatta, Angelo Selicorni

Журнал:

Рік:

2011

Мова:

english

Файл:

PDF, 103 KB

english, 2011

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

Carlo Castellani, Sandra Perobelli, Vera Bianchi, Manuela Seia, Paola Melotti, Luisa Zanolla, Baroukh Maurice Assael, Faustina Lalatta

Журнал:

Cecilia Parazzini, Andrea Righini, Faustina Lalatta, Elena Bianchini, Fabio Triulzi

Рік:

2011

Мова:

english

Файл:

PDF, 275 KB

english, 2011

Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation

Журнал:

Barbara Gentilin, Daniela Giardino, Chiara Boschetto, Silvana Guerneri, Renato Fortuna, Tommaso Rizzuti, Faustina Lalatta

Рік:

2005

Мова:

english

Файл:

PDF, 105 KB

english, 2005

Limited value of echography to predict true fetal mosaicism for trisomy 12

Журнал:

Federica Natacci, Maria Francesca Bedeschi, Andrea Righini, Francesca Inverardi, Tommaso Rizzuti, Chiara Boschetto, Fabio Triulzi, Roberto Spreafico, Carolina Frassoni, Faustina Lalatta

Рік:

2006

Мова:

english

Файл:

PDF, 119 KB

english, 2006

Norman–Roberts syndrome: characterization of the phenotype in early fetal life

Журнал:

Рік:

2007

Мова:

english

Файл:

PDF, 384 KB

english, 2007

Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally

Silvia Maitz, Barbara Gentilin, Anna Maria Colli, Tommaso Rizzuti, Emilia Brandolisio, Annalisa Vetro, Orsetta Zuffardi, Silvana Guerneri, Faustina Lalatta

Журнал:

Gaetano Bulfamante, Simone Gana, Laura Avagliano, Isabella Fabietti, Barbara Gentilin, Faustina Lalatta

Рік:

2008

Мова:

english

Файл:

PDF, 122 KB

english, 2008

Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome

Журнал:

Faustina Lalatta, Donatella Quagliarini, Emanuela Folliero, Ugo Cavallari, Barbara Gentilin, Pierangela Castorina, Francesca Forzano, Serena Forzano, Enrico Grosso, Valeria Viassolo, Valeria Giorgia N

Рік:

2011

Мова:

english

Файл:

PDF, 70 KB

english, 2011

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis

Журнал:

European Journal of Pediatrics

Рік:

2010

Мова:

english

Файл:

PDF, 214 KB

english, 2010

Banking together. A unified model of informed consent for biobanking

Salvaterra, Elena, Lecchi, Lucilla, Giovanelli, Silvia, Butti, Barbara, Bardella, Maria Teresa, Bertazzi, Pier Alberto, Bosari, Silvano, Coggi, Guido, Coviello, Domenico A, Lalatta, Faustina

Журнал:

EMBO reports

Рік:

2008

Мова:

english

Файл:

PDF, 171 KB

english, 2008

A New De Novo Missense Mutation in Connexin 26 in a Sporadic Case of Nonsyndromic Deafness

Paola Primignani, Luca Trotta, Pierangela Castorina, Faustina Lalatta, Domenico Cuda, Alessandra Murri, Umberto Ambrosetti, Antonio Cesarani, Cristina Curcio, Domenico Coviello, Maurizio Travi

Журнал:

The Laryngoscope

Рік:

2007

Мова:

english

Файл:

PDF, 374 KB

english, 2007

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

Maria C. Meazzini, Roberto Brusati, Alberto Caprioglio, Patrik Diner, Giovanna Garattini, Ennio Giannì, Faustina Lalatta, Carlo Poggio, Enrico Sesenna, Alessandro Silvestri, Catherine Tomat

Журнал:

American Journal of Orthodontics and Dentofacial Orthopedics

Рік:

2011

Мова:

english

Файл:

PDF, 2.42 MB

english, 2011

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

Lucia Ballarati, Maria Paola Recalcati, Maria Francesca Bedeschi, Faustina Lalatta, Chiara Valtorta, Melissa Bellini, Palma Finelli, Lidia Larizza, Daniela Giardino

Журнал:

European Journal of Medical Genetics

Рік:

2009

Мова:

english

Файл:

PDF, 501 KB

english, 2009

Genetic screening in 2,710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic tests

Alessandra Riccaboni, Faustina Lalatta, Ilaria Caliari, Silvia Bonetti, Edgardo Somigliana, Guido Ragni

Журнал:

Fertility and Sterility

Рік:

2008

Мова:

english

Файл:

PDF, 159 KB

english, 2008

An analysis of decision making in cord blood donation through a participatory approach

Elena Salvaterra, Sara Casati, Simonetta Bottardi, Antonella Brizzolara, Daniela Calistri, Rosanna Cofano, Emanuela Folliero, Faustina Lalatta, Cristina Maffioletti, Mariangela Negri, Paolo Rebulla

Журнал:

Transfusion and Apheresis Science

Рік:

2010

Мова:

english

Файл:

PDF, 161 KB

english, 2010

The importance of a differential diagnosis between true hemifacial microsomia and pseudo-hemifacial microsomia in the post-surgical long-term prognosis

Maria C. Meazzini, Roberto Brusati, Patrik Diner, Ennio Giannì, Faustina Lalatta, Alice S. Magri, Arnaud Picard, Enrico Sesenna

Журнал:

Journal of Cranio-Maxillofacial Surgery

Рік:

2011

Мова:

english

Файл:

PDF, 1.75 MB

english, 2011

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

Faustina Lalatta, Emanuela Folliero, Ugo Cavallari, Marina Di Segni, Barbara Gentilin, Roberto Fogliani, Donatella Quagliarini, Paola Vizziello, Federico Monti, Luigi Gargantini

Журнал:

Italian Journal of Pediatrics

Рік:

2012

Мова:

english

Файл:

PDF, 299 KB

english, 2012

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

Lalatta, Faustina, Tint, G Stephen

Журнал:

Unger, Sheila, Górna, Maria W., Le Béchec, Antony, Do Vale-Pereira, Sonia, Bedeschi, Maria Francesca, Geiberger, Stefan, Grigelioniene, Giedre, Horemuzova, Eva, Lalatta, Faustina, Lausch, Ekkehart, Ma

Рік:

2013

Мова:

english

Файл:

PDF, 96 KB

english, 2013

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

Журнал:

The American Journal of Human Genetics

Рік:

2013

Мова:

english

Файл:

PDF, 790 KB

english, 2013

Prenatal and postnatal findings in five cases of Fryns syndrome

Peron, Angela, Bedeschi, Maria Francesca, Fabietti, Isabella, Baffero, Giulia Maria, Fogliani, Roberto, Ciralli, Fabrizio, Mosca, Fabio, Rizzuti, Tommaso, Leva, Ernesto, Lalatta, Faustina

Журнал:

Bedeschi, Maria Francesca, Crippa, Beatrice Letizia, Colombo, Lorenzo, Guez, Sophie, Cerruti, Marta, Fogliani, Roberto, Gervasini, Cristina, Lalatta, Faustina

Рік:

2014

Мова:

english

Файл:

PDF, 3.63 MB

english, 2014

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

Журнал:

Van Lierde, Andrea, Menni, Francesca, Bedeschi, Maria Francesca, Natacci, Federica, Guez, Sophie, Vizziello, Paola, Costantino, Maria Antonella, Lalatta, Faustina, Esposito, Susanna

Рік:

2014

Мова:

english

Файл:

PDF, 371 KB

english, 2014

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

Журнал:

Baffero, Giulia Maria, Somigliana, Edgardo, Crovetto, Francesca, Paffoni, Alessio, Persico, Nicola, Guerneri, Silvana, Lalatta, Faustina, Fogliani, Roberto, Fedele, Luigi

Рік:

2013

Мова:

english

Файл:

PDF, 118 KB

english, 2013

Author's reply regarding “Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome”

Журнал:

Masserini, Benedetta, Bedeschi, Maria Francesca, Bianchi, Vera, Scuvera, Giulietta, Beck-Peccoz, Paolo, Lalatta, Faustina, Selicorni, Angelo, Orsi, Emanuela

Рік:

2013

Мова:

english

Файл:

PDF, 53 KB

english, 2013

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

Журнал:

Gervasini, Cristina, Grati, Francesca Romana, Lalatta, Faustina, Tabano, Silvia, Gentilin, Barbara, Colapietro, Patrizia, De Toffol, Simona, Frontino, Giada, Motta, Francesca, Maitz, Silvia, Bernardin

Рік:

2013

Мова:

english

Файл:

PDF, 102 KB

english, 2013

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

Журнал:

Genetics in Medicine

Рік:

2010

Мова:

english

Файл:

PDF, 861 KB

english, 2010

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

Calvello, Mariarosaria, Tabano, Silvia, Colapietro, Patrizia, Maitz, Silvia, Pansa, Alessandra, Augello, Claudia, Lalatta, Faustina, Gentilin, Barbara, Spreafico, Filippo, Calzari, Luciano, Perotti, D

Журнал:

Epigenetics

Рік:

2013

Мова:

english

Файл:

PDF, 1.57 MB

english, 2013

La diagnosi prenatale della sindrome di Klinefelter

Lalatta, Faustina, Bianchi, Vera, Fogliani, Roberto, Quagliarini, Donatella, Guerneri, Silvana, Silibello, Gaia, Vizziello, Paola, Gargantini, Luigi

Журнал:

L'Endocrinologo

Рік:

2014

Мова:

italian

Файл:

PDF, 384 KB

italian, 2014

Response to “Prenatal genetic counseling in klinefelter syndrome: Comments on the article by Lalatta and Tint [2013] and a proposal of a new approach” by Pimpolari et al.

Lalatta, Faustina, Tint, G Stephen

Журнал:

Gentilin, Barbara, Guerneri, Silvana, Bianchi, Vera, Natacci, Federica, Colombo, Augusto, Fogliani, Roberto, Fortuna, Renato, Coviello, Domenico A., Curcio, Cristina, Lalatta, Faustina

Рік:

2015

Мова:

english

Файл:

PDF, 117 KB

english, 2015

Discordant Prenatal Phenotype and Karyotype of Monozygotic Twins Characterized by the Unequal Distribution of Two Cell Lines Investigated by Different Methods: A Review

Журнал:

Twin Research and Human Genetics

Рік:

2008

Мова:

english

Файл:

PDF, 150 KB

english, 2008

Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations

Cesaretti, Claudia, Gentilin, Barbara, Bianchi, Vera, Melloni, Giulia, Bonaguro, Michela, Rossi, Cesare, Meazzini, Costanza, Brusati, Roberto, Lalatta, Faustina

Журнал:

Palka, Chiara, Antonucci, Ivana, Alfonsi, Melissa, Bedeschi, Maria Francesca, Mohn, Angelika, Lalatta, Faustina, Chiarelli, Francesco, Palka, Giandomenico, Stuppia, Liborio

Рік:

2011

Мова:

english

Файл:

PDF, 116 KB

english, 2011

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

Журнал:

Рік:

2012

Мова:

english

Файл:

PDF, 283 KB

english, 2012

Prenatal phenotype of Nager syndrome and Rodriguez syndrome

Gana, Simone, Gentilin, Barbara, Bianchi, Vera, Gorla, Sonia, Ceriani, Florinda, Melloni, Giulia, Lalatta, Faustina

Журнал:

Bellini, Martina, Rizzuti, Tommaso, Ardissino, Gianluigi, Boito, Simona, Fogliani, Roberto, Lalatta, Faustina

Рік:

2013

Мова:

english

Файл:

PDF, 322 KB

english, 2013

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

Paganini, Leda, Carlessi, Nicole, Fontana, Laura, Silipigni, Rosamaria, Motta, Silvia, Fiori, Stefano, Guerneri, Silvana, Lalatta, Faustina, Cereda, Anna, Sirchia, Silvia, Miozzo, Monica, Tabano, Silv

Журнал:

Epigenetics

Рік:

2015

Мова:

english

Файл:

PDF, 977 KB

english, 2015

Fetal death associated with diffuse mesangial sclerosis combined with bilateral multicystic kidney

Журнал:

Case Reports in Perinatal Medicine

Рік:

2013

Мова:

english

Файл:

PDF, 1.11 MB

english, 2013

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

Hill, Melissa, Johnson, Jo-Ann, Langlois, Sylvie, Lee, Hyun, Winsor, Stephanie, Dineley, Brigid, Horniachek, Marisa, Lalatta, Faustina, Ronzoni, Luisa, Barrett, Angela N, Advani, Henna V, Choolani, Ma

Журнал:

European Journal of Human Genetics

Рік:

2015

Мова:

english

Файл:

PDF, 666 KB

english, 2015

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

Galbiati, Silvia, Monguzzi, Alessandra, Damin, Francesco, Soriani, Nadia, Passiu, Marianna, Castellani, Carlo, Natacci, Federica, Curcio, Cristina, Seia, Manuela, Lalatta, Faustina, Chiari, Marcella,

Журнал:

Journal of Medical Genetics

Рік:

2016

Мова:

english

Файл:

PDF, 2.79 MB

english, 2016

Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting

Terzoli, Gianluigi, Lalatta, Faustina, Lobbiani, Andreina, Simoni, Giuseppe, Colucci, Giuseppe

Журнал:

Fertility and Sterility

Рік:

1992

Мова:

english

Файл:

PDF, 341 KB

english, 1992

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

Ronzoni, Luisa, Peron, Angela, Bianchi, Vera, Baccarin, Marco, Guerneri, Silvana, Silipigni, Rosamaria, Lalatta, Faustina, Bedeschi, Maria Francesca

Журнал:

Lalatta, Faustina, Motta, Francesca, Restelli, Elisa, Bellini, Martina, Miozzo, Monica, Gervasini, Cristina, Dallapiccola, Bruno, Gentilin, Barbara, Fedele, Luigi

Рік:

2015

Мова:

english

Файл:

PDF, 1.49 MB

english, 2015

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

Журнал: