Publications by authors named "Cristina Gervasini"

71Publications

Chromatinopathies: A focus on Cornelia de Lange syndrome.

Clin Genet 2020 01 24;97(1):3-11. Epub 2019 Nov 24.

Department of Health Sciences, Università degli Studi di Milano, Milano, Italy.

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http://dx.doi.org/10.1111/cge.13674DOI Listing
January 2020

Unexpected phenotype in a frameshift mutation of PTCH1.

Mol Genet Genomic Med 2020 01 2;8(1):e987. Epub 2019 Oct 2.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/mgg3.987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978275PMC
January 2020

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

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).

Stem Cell Res 2018 07 18;30:175-179. Epub 2018 Jun 18.

Laboratory of Medical Cytogenetics and Molecular Genetics, Centro di Ricerche e Tecnologie Biomediche -Istituto Auxologico Italiano-IRCCS, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.06.009DOI Listing
July 2018

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Stem Cell Res 2018 07 30;30:130-140. Epub 2018 May 30.

Laboratory of Medical Cytogenetics and Molecular Genetics, Centro di Ricerche e Tecnologie Biomediche, IRCCS Istituto Auxologico Italiano, 20145 Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.05.019DOI Listing
July 2018

Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.

J Clin Immunol 2018 05 16;38(4):494-502. Epub 2018 May 16.

Laboratorio di Citogenetica Medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Via Ariosto 13, 20145, Milan, Italy.

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http://dx.doi.org/10.1007/s10875-018-0508-9DOI Listing
May 2018

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.

Am J Med Genet B Neuropsychiatr Genet 2018 06 10;177(4):406-415. Epub 2018 Apr 10.

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

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http://dx.doi.org/10.1002/ajmg.b.32628DOI Listing
June 2018

Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55).

Stem Cell Res 2018 04 2;28:21-24. Epub 2018 Feb 2.

Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy; Department of Clinical Sciences and Community Health, University of Milan, Italy; Department of Cardiac Surgery, Centro Cardiologico Monzino IRCCS, Milan, Italy.

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http://dx.doi.org/10.1016/j.scr.2018.01.025DOI Listing
April 2018

Perthes disease: A new finding in Floating-Harbor syndrome.

Am J Med Genet A 2018 03 31;176(3):703-706. Epub 2018 Jan 31.

Genetica Medica, Dip. Scienze della Salute, Università degli Studi di Milano, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38605DOI Listing
March 2018

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

Orphanet J Rare Dis 2016 10 7;11(1):136. Epub 2016 Oct 7.

Laboratorio di Citogenetica Medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Via Zucchi 18, 20095, Cusano Milanino, Italy.

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http://dx.doi.org/10.1186/s13023-016-0514-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054609PMC
October 2016

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.

J Pediatr Genet 2015 Sep 28;4(3):177-86. Epub 2015 Sep 28.

Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore, Policlinico, Milano, Italy.

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http://dx.doi.org/10.1055/s-0035-1564571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918723PMC
September 2015

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence.

Indian J Pediatr 2017 01;84(1):91-92

Medical Genetics, Department of Health Sciences, University of Milan, Milan, Italy.

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http://link.springer.com/10.1007/s12098-016-2210-3
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http://dx.doi.org/10.1007/s12098-016-2210-3DOI Listing
January 2017

Electroclinical phenotype in Rubinstein-Taybi syndrome.

Brain Dev 2016 Jun 8;38(6):563-70. Epub 2016 Feb 8.

Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604150025
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http://dx.doi.org/10.1016/j.braindev.2015.12.003DOI Listing
June 2016

Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report.

Pediatr Blood Cancer 2016 Mar 20;63(3):572-3. Epub 2015 Oct 20.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/pbc.25806DOI Listing
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

Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.

Br J Haematol 2015 Nov 25;171(4):557-65. Epub 2015 Aug 25.

Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1111/bjh.13651DOI Listing
November 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

Potential impact of fetal genotype on maternal blood pressure during pregnancy: the example of EP300.

J Hypertens 2015 Mar;33(3):664-5

aPediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico bMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1097/HJH.0000000000000507DOI Listing
March 2015

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Ital J Pediatr 2015 Jan 20;41. Epub 2015 Jan 20.

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, 20122, Milano, Italy.

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http://dx.doi.org/10.1186/s13052-015-0110-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308897PMC
January 2015

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.

J Hum Genet 2014 Nov 2;59(11):631-7. Epub 2014 Oct 2.

1] Medical Genetics, Department of Health Sciences, University of Milan, Milan, Italy [2] Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1038/jhg.2014.84DOI Listing
November 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

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

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

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 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

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

Developmental abnormalities and cancer predisposition in neurofibromatosis type 1.

Curr Mol Med 2009 Jun;9(5):634-53

Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy.

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http://dx.doi.org/10.2174/156652409788488801DOI Listing
June 2009

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/10.1097/gim.0b013e31803183ddDOI Listing
March 2007

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Nat Genet 2006 May 9;38(5):528-30. Epub 2006 Apr 9.

Institute of Biomedical Technologies, Human Genome Department, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Italy.

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https://www.nature.com/articles/ng1779.pdf
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http://www.nature.com/articles/ng1779
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http://dx.doi.org/10.1038/ng1779DOI Listing
May 2006

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.

Genomics 2005 Feb;85(2):273-9

Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3/5, 20133 Milan, Italy.

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http://dx.doi.org/10.1016/j.ygeno.2004.10.014DOI Listing
February 2005

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Hum Genet 2004 Jun 21;115(1):69-80. Epub 2004 Apr 21.

Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3/5, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00439-004-1101-2DOI Listing
June 2004

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

Hum Genet 2003 Nov 6;113(6):551-4. Epub 2003 Sep 6.

Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti 3/5, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00439-003-1009-2DOI Listing
November 2003

Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.

Hum Genet 2002 Apr 20;110(4):314-21. Epub 2002 Mar 20.

Department of Biology and Genetics, Medical Faculty, University of Milan, Via Viotti 3/5, 20133 Milan, Italy.

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http://link.springer.com/10.1007/s00439-002-0704-8
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http://dx.doi.org/10.1007/s00439-002-0704-8DOI Listing
April 2002