Anna Cereda

Anna Cereda

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Anna Cereda

Anna Cereda

Publications by authors named "Anna Cereda"

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Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.

J Pediatr 2019 Aug 31;211:54-62.e4. Epub 2019 May 31.

Pediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2019.04.016DOI Listing
August 2019

Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.

Am J Med Genet A 2018 12 21;176(12):2867-2871. Epub 2018 Nov 21.

Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.

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http://dx.doi.org/10.1002/ajmg.a.40635DOI Listing
December 2018

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.

Am J Med Genet A 2018 09 21;176(9):1865-1871. Epub 2018 Sep 21.

Department of Pediatrics. ASST-Lariana. Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy.

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http://dx.doi.org/10.1002/ajmg.a.40372DOI Listing
September 2018

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

Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

Am J Med Genet A 2016 Jan 5;170A(1):130-4. Epub 2015 Oct 5.

Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Milano Bicocca University, Monza, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37390DOI Listing
January 2016

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Mol Cytogenet 2015 26;8:20. Epub 2015 Mar 26.

Medical Cytogenetics and Molecular Genetics Lab, IRCCS Istituto Auxologico Italiano, via Ariosto 13, Milano, 20145 Italy ; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, via Viotti 3/5, Milano, 20133 Italy.

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http://www.molecularcytogenetics.org/content/8/1/20
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http://dx.doi.org/10.1186/s13039-015-0126-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383199PMC
April 2015

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.

Epigenetics 2014 Jul 22;9(7):973-9. Epub 2014 Apr 22.

Medical Genetics; Department of Health Sciences; Università degli Studi di Milano; Milan, Italy; Laboratory of Medical Cytogenetics and Molecular Genetics; IRCCS Istituto Auxologico Italiano; Milan, Italy.

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http://dx.doi.org/10.4161/epi.28903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143412PMC
July 2014

Cervical spine malformation in cornelia de lange syndrome: a report of three patients.

Am J Med Genet A 2014 Jun 25;164A(6):1520-4. Epub 2014 Mar 25.

Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Pediatric Genetic Unit, San Gerardo Hospital, Monza, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36457DOI Listing
June 2014

Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results.

Am J Med Genet B Neuropsychiatr Genet 2014 Apr 7;165B(3):223-9. Epub 2014 Feb 7.

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

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http://dx.doi.org/10.1002/ajmg.b.32224DOI Listing
April 2014

Two cases of hepatic adenomas in patients with Wolf-Hirschhorn syndrome: a new rare complication?

Am J Med Genet A 2013 Jul 21;161A(7):1759-62. Epub 2013 May 21.

Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, S.Gerardo Hospital, Monza, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35966DOI Listing
July 2013

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

Eur J Med Genet 2013 Mar 8;56(3):138-43. Epub 2013 Jan 8.

Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Via A. di Rudinì 8, 20142 Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.009DOI Listing
March 2013

A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.

Am J Med Genet A 2013 Mar 22;161A(3):611-8. Epub 2013 Jan 22.

Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35814DOI Listing
March 2013

A new report of Cornelia de Lange syndrome associated with split hand and feet.

Am J Med Genet A 2012 Nov 18;158A(11):2953-5. Epub 2012 Sep 18.

Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Università Milano Bicocca, Fondazione MBBM, AO S Gerardo, Monza, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35623DOI Listing
November 2012

The trisomy 18 syndrome.

Orphanet J Rare Dis 2012 Oct 23;7:81. Epub 2012 Oct 23.

Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Universita Milano Bicocca, Fondazione MBBM A.O, S, Gerardo Monza, Italy.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-8
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http://dx.doi.org/10.1186/1750-1172-7-81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520824PMC
October 2012

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.

Eur J Med Genet 2012 Feb 17;55(2):124-7. Epub 2011 Dec 17.

Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2011.12.001DOI Listing
February 2012

Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

Eur J Med Genet 2011 Jan-Feb;54(1):55-9. Epub 2010 Oct 20.

Laboratorio Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2010.10.003DOI Listing
June 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

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

Chromosome Res 2009 19;17(6):763-71. Epub 2009 Aug 19.

Division of Medical Genetics, San Paolo School of Medicine, University of Milan, via A. di Rudinì 8, 20142 Milan, Italy.

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http://link.springer.com/10.1007/s10577-009-9066-6
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http://dx.doi.org/10.1007/s10577-009-9066-6DOI Listing
December 2009