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F. Lalatta · SciRah

Researcher profile · Semantic Scholar

F. Lalatta

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F. Lalatta — researcher profile on SciRah

h-index: 29
Works: 153
Citations: 3,026

Most-cited papers

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
M. De Gregori, R. Ciccone, P. Magini, T. Pramparo +39 more
2007Journal of Medical Genetics285 citations Open access
Semantic Scholar
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
J. Bliek, Gaetano Verde, Jonathan L. A. Callaway, Saskia M. Maas +16 more
2009European Journal of Human Genetics216 citations Open access
Semantic Scholar
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
S. Unger, M. Górna, A. Le Béchec, Sonia Do Vale-Pereira +20 more
2013American Journal of Human Genetics136 citations Open access
Semantic Scholar
Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies
M. Iannicelli, F. Brancati, S. Mougou-Zerelli, A. Mazzotta +28 more
2010Human Mutation104 citations Open access
Semantic Scholar
Why women do not ask for information on preconception health? A qualitative study
R. Bortolus, N. Oprandi, Francesca Rech Morassutti, Luca Marchetto +7 more
2017BMC Pregnancy and Childbirth85 citations Open access
Semantic Scholar
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome
C. Gervasini, F. Grati, F. Lalatta, S. Tabano +11 more
2010Genetics in Medicine84 citations Open access
Semantic Scholar
De novo balanced chromosome rearrangements in prenatal diagnosis
D. Giardino, Cecilia Corti, L. Ballarati, D. Colombo +46 more
2009Prenatal Diagnosis73 citations Open access
Semantic Scholar
Banking together
E. Salvaterra, L. Lecchi, S. Giovanelli, Barbara Butti +10 more
2008EMBO Reports69 citations Open access
Semantic Scholar
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals
M. Hill, Joann Johnson, S. Langlois, H. Lee +26 more
2015European Journal of Human Genetics68 citations Open access
Semantic Scholar
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree
C. Marconi, P. B. Binello, G. Badiali, E. Caci +10 more
2012European Journal of Human Genetics65 citations Open access
Semantic Scholar
Recurrence of Congenital Heart Disease in Cases with Familial Risk Screened Prenatally by Echocardiography
V. Fesslova, J. Branković, F. Lalatta, L. Villa +3 more
2011Journal of Pregnancy61 citations Open access
Semantic Scholar
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.
A. Riccaboni, F. Lalatta, I. Caliari, S. Bonetti +2 more
2008Fertility and Sterility54 citations Open access
Semantic Scholar
Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome
A. van Lierde, F. Menni, M. Bedeschi, F. Natacci +5 more
2013American Journal of Medical Genetics. Part A50 citations
Semantic Scholar
Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome
G. Baffero, E. Somigliana, Francesca Crovetto, A. Paffoni +5 more
2012Prenatal Diagnosis48 citations
Semantic Scholar
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
M. Calvello, S. Tabano, P. Colapietro, S. Maitz +12 more
2013Epigenetics41 citations Open access
Semantic Scholar
Expanding CEP290 mutational spectrum in ciliopathies
L. Travaglini, F. Brancati, T. Attié-Bitach, S. Audollent +163 more
2009American Journal of Medical Genetics. Part A41 citations Open access
Semantic Scholar
Clinical follow‐up of young adults affected by Williams syndrome: Experience of 45 Italian patients
M. Bedeschi, V. Bianchi, A. Colli, F. Natacci +5 more
2011American Journal of Medical Genetics. Part A36 citations
Semantic Scholar
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders
L. Fontana, M. Bedeschi, S. Maitz, A. Cereda +13 more
2018Epigenetics35 citations Open access
Semantic Scholar
Loss‐of‐Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association
A. Vetro, M. Iascone, I. Limongelli, Najim Ameziane +15 more
2015Human Mutation35 citations Open access
Semantic Scholar
High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.
L. Fugazzola, V. Cirello, S. Dossena, S. Rodighiero +7 more
2007European Journal of Endocrinology33 citations Open access
Semantic Scholar
Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?
F. Lalatta, G. Tint
2013American Journal of Medical Genetics. Part A32 citations Open access
Semantic Scholar
Analysis of the GJB2 and GJB6 Genes in Italian Patients with Nonsyndromic Hearing Loss: Frequencies, Novel Mutations, Genotypes, and Degree of Hearing Loss
P. Primignani, L. Trotta, P. Castorina, F. Lalatta +13 more
2009Genetic Testing and Molecular Biomarkers31 citations
Semantic Scholar
Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi
Leda Paganini, Nicole Carlessi, L. Fontana, R. Silipigni +8 more
2015Epigenetics30 citations Open access
Semantic Scholar
COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma
S. Galbiati, A. Monguzzi, F. Damin, N. Soriani +9 more
2016Journal of Medical Genetics29 citations Open access
Semantic Scholar
Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis
C. Cesaretti, G. Melloni, Donatella Quagliarini, R. Fogliani +5 more
2013American Journal of Medical Genetics. Part A29 citations Open access
Semantic Scholar
Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
L. Ballarati, Maria Paola Recalcati, M. Bedeschi, F. Lalatta +5 more
2009European Journal of Medical Genetics29 citations
Semantic Scholar
Vocal and gestural productions of 24-month-old children with sex chromosome trisomies.
L. Zampini, L. Draghi, G. Silibello, F. Dall’ara +6 more
2018International journal of language and communication disorders28 citations
Semantic Scholar
Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior
F. Lalatta, Emanuela Folliero, Ugo Cavallari, M. Di Segni +6 more
2012Italian Journal of Pediatrics28 citations Open access
Semantic Scholar
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
G. Silibello, P. Vizziello, M. Gallucci, A. Selicorni +6 more
2016Italian Journal of Pediatrics27 citations Open access
Semantic Scholar
Discordant Prenatal Phenotype and Karyotype of Monozygotic Twins Characterized by the Unequal Distribution of Two Cell Lines Investigated by Different Methods: A Review
B. Gentilin, S. Guerneri, V. Bianchi, F. Natacci +6 more
2008Twin Research and Human Genetics27 citations Open access
Semantic Scholar
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene
B. Gentilin, F. Forzano, M. Bedeschi, T. Rizzuti +11 more
2010Ultrasound in Obstetrics and Gynecology26 citations
Semantic Scholar
Early communicative skills of children with Klinefelter syndrome
L. Zampini, Tiziana Burla, G. Silibello, F. Dall’ara +3 more
2018Clinical Linguistics & Phonetics25 citations
Semantic Scholar
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs
F. Natacci, M. Baffico, Ugo Cavallari, M. Bedeschi +5 more
2008American Journal of Medical Genetics. Part A25 citations
Semantic Scholar
Three cases with de novo 6q imbalance and variable prenatal phenotype
F. Grati, F. Lalatta, L. Turolla, Ugo Cavallari +10 more
2005American Journal of Medical Genetics. Part A25 citations
Semantic Scholar
True hemifacial microsomia and hemimandibular hypoplasia with condylar-coronoid collapse: diagnostic and prognostic differences.
M. Meazzini, R. Brusati, A. Caprioglio, Patrik Diner +7 more
2011American Journal of Orthodontics and Dentofacial Orthopedics24 citations
Semantic Scholar
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis
F. Lalatta, Donatella Quagliarini, Emanuela Folliero, Ugo Cavallari +11 more
2010European Journal of Pediatrics24 citations
Semantic Scholar
Prevalence of diabetes and pre‐diabetes in a cohort of Italian young adults with Williams syndrome
B. Masserini, M. Bedeschi, V. Bianchi, G. Scuvera +4 more
2013American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene
M. Bedeschi, A. Novelli, L. Bernardini, C. Parazzini +7 more
2008American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL
F. Lalatta, S. Russo, B. Gentilin, L. Spaccini +7 more
2007Genetics in Medicine22 citations Open access
Semantic Scholar
An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests
C. Castellani, S. Perobelli, V. Bianchi, M. Seia +4 more
2011American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios
S. Boito, Francesca Crovetto, B. Ischia, Beatrice L. Crippa +7 more
2016Prenatal Diagnosis20 citations
Semantic Scholar
Partial Trisomy of 7q: Case Report and Literature Review
B. Scelsa, F. Bedeschi, S. Guerneri, F. Lalatta +1 more
2008Journal of Child Neurology19 citations
Semantic Scholar
An analysis of decision making in cord blood donation through a participatory approach.
E. Salvaterra, S. Casati, Simonetta Bottardi, Antonella Brizzolara +7 more
2010Transfusion and Apheresis Science18 citations Open access
Semantic Scholar
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome
P. Magini, Flavia Palombo, S. Boito, G. Lanzoni +6 more
2016American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
The importance of a differential diagnosis between true hemifacial microsomia and pseudo-hemifacial microsomia in the post-surgical long-term prognosis.
M. Meazzini, R. Brusati, Patrik Diner, Ennio Giannì +4 more
2011Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery16 citations
Semantic Scholar
Preverbal skills in 8-month-old children with sex chromosome trisomies
L. Zampini, Tiziana Burla, G. Silibello, Elena Capelli +8 more
202015 citations
Semantic Scholar
Maternal input to children with sex chromosome trisomies.
L. Zampini, Camilla Ferrante, G. Silibello, F. Dall’ara +5 more
2020International journal of language and communication disorders15 citations
Semantic Scholar
Dysmorphologic assessment in 115 Mayer–Rokitansky–Küster–Hauser patients
F. Lalatta, F. Motta, E. Restelli, M. Bellini +5 more
2015Clinical Dysmorphology15 citations
Semantic Scholar
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases
M. Bedeschi, M. Calvello, Leda Paganini, Lidia Pezzani +11 more
2017BMC Medical Genetics12 citations Open access
Semantic Scholar
Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome
G. Bulfamante, S. Gana, L. Avagliano, I. Fabietti +2 more
2011Prenatal Diagnosis12 citations
Semantic Scholar

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