Faustina Lalatta

Faustina Lalatta

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Faustina Lalatta

Publications by authors named "Faustina Lalatta"

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Early communicative skills of children with Klinefelter syndrome.

Clin Linguist Phon 2018 16;32(7):577-586. Epub 2017 Oct 16.

b Unità Operativa Neuropsichiatria dell'Infanzia e dell'Adolescenza , Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano , Milan , Italy.

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http://dx.doi.org/10.1080/02699206.2017.1384853DOI Listing
June 2019

A comment on "clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision-making".

Prenat Diagn 2018 12 20;38(13):1129-1130. Epub 2018 Nov 20.

Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/pd.5382DOI Listing
December 2018

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

Genet Med 2018 11;20(11):1483-1484

Medical Genetics Unit, Fondazione, Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/gim.2018.19DOI Listing
November 2018

Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.

Cytogenet Genome Res 2017 20;153(2):73-80. Epub 2017 Dec 20.

Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1159/000485226DOI Listing
February 2018

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

Int J Lang Commun Disord 2018 01 20;53(1):171-181. Epub 2017 Jul 20.

Unità Operativa Neuropsichiatria dell'Infanzia e dell'Adolescenza, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, Milan, Italy.

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http://dx.doi.org/10.1111/1460-6984.12334DOI Listing
January 2018

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

Am J Med Genet A 2017 Dec 31;173(12):3226-3230. Epub 2017 Oct 31.

Department of Pathophysiology and Transplantation, Università degli Studi di Milano and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38484DOI Listing
December 2017

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

PLoS One 2017 20;12(10):e0185371. Epub 2017 Oct 20.

Diabetes Service, Unit of Endocrinology and Metabolic Diseases, IRCCS "Cà Granda-Ospedale Maggiore Policlinico" Foundation, and Department of Medical Sciences, University of Milan, Milan, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0185371PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650138PMC
November 2017

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

BMC Med Genet 2017 10 18;18(1):115. Epub 2017 Oct 18.

Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1186/s12881-017-0470-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648441PMC
October 2017

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2016 12 9;170(12):3258-3264. Epub 2016 Sep 9.

Clinical Genetics Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37873DOI Listing
December 2016

Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios.

Prenat Diagn 2016 Aug 24;36(8):726-30. Epub 2016 Jun 24.

Department of Obstetrics and Gynecology 'L. Mangiagalli', Fondazione IRCCS 'Ca' Granda' - Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/pd.4851DOI Listing
August 2016

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

J Med Genet 2016 07 24;53(7):481-7. Epub 2016 Feb 24.

Unit of Genomic for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1136/jmedgenet-2015-103229DOI Listing
July 2016

Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi.

Epigenetics 2015 ;10(7):643-9

a Division of Pathology; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Department of Pathophysiology & Transplantation; Università degli Studi di Milano ; Milano , Italy.

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http://dx.doi.org/10.1080/15592294.2015.1057383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4622958PMC
March 2016

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

Minerva Pediatr 2016 Mar 23. Epub 2016 Mar 23.

Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy -

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March 2016

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

Am J Med Genet A 2015 Jul 6;167(7):1551-9. Epub 2015 Apr 6.

Medical Genetics Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37063DOI Listing
July 2015

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

Clin Dysmorphol 2015 Jul;24(3):95-101

aMedical Genetics Unit bObstetric and Gynecology Unit cDepartment of Clinical/Surgical Pathophysiology and Organ Transplant, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico dMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano eBambino Gesù Children Hospital, IRCCS, Rome, Italy.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000087DOI Listing
July 2015

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.

Am J Med Genet A 2015 Mar;167A(3):678-9

Clinical Genetics Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36892DOI Listing
March 2015

Prenatal and postnatal findings in five cases of Fryns syndrome.

Prenat Diagn 2014 Dec 22;34(12):1227-30. Epub 2014 Jul 22.

Clinical Genetics Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/pd.4447DOI Listing
December 2014

Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report.

Am J Med Genet A 2014 Oct 29;164A(10):2663-6. Epub 2014 Jul 29.

Medical Genetics Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36684DOI Listing
October 2014

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

Am J Med Genet A 2013 Nov 24;161A(11):2873-9. Epub 2013 Sep 24.

Clinical Genetics Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36226DOI Listing
November 2013

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

Clin Dysmorphol 2013 Oct;22(4):135-9

aMedical Genetics, University of Pavia, Pavia bMedical Genetics Unit cObstetrics and Gynecology Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan dPathology Unit, AO Vimercate, Vimercate, Italy.

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http://pdfs.journals.lww.com/clindysmorphol/2013/10000/Prena
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0b013e32836351c8DOI Listing
October 2013

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

Epigenetics 2013 Oct 5;8(10):1053-60. Epub 2013 Aug 5.

Division of Pathology; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milano, Italy; Department of Pathophysiology and Transplantation; Università degli Studi di Milano; Milano, Italy.

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http://dx.doi.org/10.4161/epi.25812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891686PMC
October 2013

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

Am J Med Genet A 2013 Jul 21;161A(7):1666-74. Epub 2013 May 21.

Pediatric Clinic 1, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.35982
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http://dx.doi.org/10.1002/ajmg.a.35982DOI Listing
July 2013

Recurrence of congenital heart disease in cases with familial risk screened prenatally by echocardiography.

J Pregnancy 2011 1;2011:368067. Epub 2011 Oct 1.

Department of Pediatric Cardiosurgery, Center of Fetal Cardiology, Policlinico San Donato IRCCS, Via Morandi 30, San Donato Milanese, 20097 Milan, Italy.

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http://www.hindawi.com/journals/jp/2011/368067/
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http://dx.doi.org/10.1155/2011/368067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3184425PMC
May 2013

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

Am J Med Genet A 2013 Apr 12;161A(4):817-21. Epub 2013 Mar 12.

Dipartimento di Scienze Mediche UOC di Endocrinologia e Diabetologia, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.35655
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http://dx.doi.org/10.1002/ajmg.a.35655DOI Listing
April 2013

Neurofibromatosis type 1 and pregnancy: maternal complications and attitudes about prenatal diagnosis.

Am J Med Genet A 2013 Feb 16;161A(2):386-8. Epub 2013 Jan 16.

Medical Genetics Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35720DOI Listing
February 2013

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

Prenat Diagn 2012 Nov 7;32(11):1102-8. Epub 2012 Sep 7.

Fondazione Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/pd.3965DOI Listing
November 2012

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

Am J Med Genet A 2011 Apr 17;155A(4):778-85. Epub 2011 Mar 17.

Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33870DOI Listing
April 2011

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

Am J Med Genet A 2011 Feb 13;155A(2):353-9. Epub 2011 Jan 13.

UOD di Genetica Medica, Dipartimento Salute della donna, del bambino, del neonato, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33819DOI Listing
February 2011

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

J Craniomaxillofac Surg 2011 Jan 24;39(1):10-6. Epub 2010 Apr 24.

Department of Maxillofacial Surgery, Cleft lip and palate Center, University of Milano, Italy.

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http://dx.doi.org/10.1016/j.jcms.2010.03.003DOI Listing
January 2011

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

Eur J Pediatr 2010 Oct 15;169(10):1255-61. Epub 2010 May 15.

UOD Genetica Medica, Dipartimento Area Salute della Donna del Bambino e del Neonato Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1007/s00431-010-1221-8DOI Listing
October 2010

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

Transfus Apher Sci 2010 Jun 8;42(3):299-305. Epub 2010 Apr 8.

Centro di Medicina Trasfusionale, Terapia Cellulare e Criobiologia, Fondazione Ca' Granda Ospedale Maggiore Policlinico, Italy.

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http://dx.doi.org/10.1016/j.transci.2010.03.005DOI Listing
June 2010

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

Eur J Med Genet 2009 Jul-Aug;52(4):218-23. Epub 2009 Feb 21.

Lab. Citogenetica Medica e Genetica Molecolare, IRCCS, Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2009.02.004DOI Listing
November 2009

Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings.

Clin Dysmorphol 2009 Jan;18(1):45-8

Clinical Genetic Unit, Department of Obstetrics and Pediatrics, University of Milan, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1097/MCD.0b013e328317c867DOI Listing
January 2009

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

Prenat Diagn 2008 Oct;28(10):978-80

Medical Genetics, Department of Medicine, Surgery and Dentistry, H. S. Paolo, University of Milan, Italy.

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http://dx.doi.org/10.1002/pd.2110DOI Listing
October 2008

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.

Am J Med Genet A 2008 Jul;146A(13):1718-24

Clinical Genetics Unit, Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32365DOI Listing
July 2008

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.

Twin Res Hum Genet 2008 Jun;11(3):352-6

Clinical Genetic Unit, Dipartimento Salute della Donna, del Bambino e del Neonato, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1375/twin.11.3.352DOI Listing
June 2008

Partial trisomy of 7q: case report and literature review.

J Child Neurol 2008 May 3;23(5):572-9. Epub 2007 Dec 3.

Department of Pediatric Neurology, Buzzi Children's Hospital-ICP-Milano.

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http://dx.doi.org/10.1177/0883073807309776DOI Listing
May 2008

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.

Fertil Steril 2008 Apr 6;89(4):800-8. Epub 2007 Aug 6.

Infertility Unit, Fondazione Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1016/j.fertnstert.2007.04.032DOI Listing
April 2008

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

Am J Med Genet A 2008 Mar;146A(6):784-6

Clinical Genetic Unit, Department of Obstetrics and Pediatrics, Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32228DOI Listing
March 2008

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

Prenat Diagn 2007 Jun;27(6):568-72

Medical Genetics Unit, Dipartimento dell'Area Salute della Donna, del Bambino e del Neonato, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy.

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http://dx.doi.org/10.1002/pd.1728DOI Listing
June 2007

A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness.

Laryngoscope 2007 May;117(5):821-4

Laboratorio di Genetica Medica, Settore di Genetica Molecolare, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy.

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http://dx.doi.org/10.1097/MLG.0b013e31803330d9DOI Listing
May 2007

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

Genet Med 2007 Mar;9(3):188-94

Clinical Genetic Unit, Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Department of Obstetrics and Pediatrics, Milan, Italy.

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http://dx.doi.org/10.1097GIM.0b013e31803183ddDOI Listing
March 2007

Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression.

Clin Dysmorphol 2006 Oct;15(4):239-41

Medical Genetic Unit, IRCCS Foundation Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1097/01.mcd.0000220618.01144.6dDOI Listing
October 2006

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

Am J Med Genet A 2005 Jul;136(3):254-8

Dipartimento di Medicina, Chirurgia ed Odontoiatria, Genetica Medica, Università degli Studi di Milano, Milano, Italia.

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http://dx.doi.org/10.1002/ajmg.a.30837DOI Listing
July 2005

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

Prenat Diagn 2005 Jun;25(6):489-91

Department of Radiology e Neuroradiology, Ospedale dei Bambini, Istituti Clinici di Perfezionamento, Milan, Italy.

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http://dx.doi.org/10.1002/pd.1178DOI Listing
June 2005

The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration.

Hum Reprod Update 2004 Nov-Dec;10(6):541-8

Department of Obstetrics and Gynaecology and Medical Genetics, Ospedale V Buzzi, University of Milano, Milano, Italy.

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http://dx.doi.org/10.1093/humupd/dmh046DOI Listing
March 2005