Publications

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.


Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
BMC Med Genet 2017 Oct 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.


HOXA genes cluster: clinical implications of the smallest deletion.
Ital J Pediatr 2015 Apr 10;41:31. Epub 2015 Apr 10.
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, Milan, 20122, Italy.




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.

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.





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.


MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective of IDH Status and Chromosome 10q Deletion.
J Neuropathol Exp Neurol 2016 06 26. Epub 2016 Jun 26.
From the Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milan, Italy (LF, ST, EB, GM, CP, RF, CA, RC, SB, MM); Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy (EB, CP, RF, NC, SB, MM); Laboratory of Experimental Neurosurgery and Cell Therapy, Neurosurgery Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy (GM, RC); Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy (RS, SG); Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurosurgery Unit, Milan, Italy (MC); and Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy (SMS).

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