Francesca Forzano

Francesca Forzano

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Francesca Forzano

Francesca Forzano

Publications by authors named "Francesca Forzano"

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52Publications

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ESHG PPPC Comments on postmortem use of genetic data for research purposes.

Eur J Hum Genet 2019 Oct 8. Epub 2019 Oct 8.

Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1038/s41431-019-0525-zDOI Listing
October 2019

Bone Dysplasia: a must-have Atlas for the clinician.

Eur J Hum Genet 2019 Aug;27(8):1320

Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1038/s41431-019-0409-2DOI Listing
August 2019

Reply to Bombard and Mighton.

Eur J Hum Genet 2019 Apr 18;27(4):507-508. Epub 2019 Jan 18.

Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1038/s41431-018-0315-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460587PMC
April 2019

Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.

Hum Genet 2018 Dec 27;137(11-12):905-909. Epub 2018 Oct 27.

Divisions of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada.

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http://link.springer.com/10.1007/s00439-018-1950-8
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http://dx.doi.org/10.1007/s00439-018-1950-8DOI Listing
December 2018

Nablus syndrome: Easy to diagnose yet difficult to solve.

Am J Med Genet C Semin Med Genet 2018 12;178(4):447-457

Department of Genetics, CHEO, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.c.31660DOI Listing
December 2018

A response to the forensic genetics policy initiative's report "Establishing Best Practice for Forensic DNA Databases".

Forensic Sci Int Genet 2018 09 5;36:e19-e21. Epub 2018 Jul 5.

Department of Political Science, University of Vienna, Austria; Department of Global Health & Social Medicine, King's College London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2018.07.002DOI Listing
September 2018

Human germline gene editing: Recommendations of ESHG and ESHRE.

Eur J Hum Genet 2018 04 12;26(4):445-449. Epub 2018 Jan 12.

Department of Clinical Genetics, Section Community Genetics, and Amsterdam Public Health research institute, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41431-017-0076-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891496PMC
April 2018

Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE.

Eur J Hum Genet 2018 04 12;26(4):450-470. Epub 2018 Jan 12.

Department of Clinical Genetics, Section Community Genetics and Amsterdam Public Health Research Institute, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41431-017-0077-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891502PMC
April 2018

One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans.

Eur J Hum Genet 2018 01 30;26(1):1-11. Epub 2017 Nov 30.

Department of Clinical Genetics, Section Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41431-017-0024-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839051PMC
January 2018

Responsible innovation in human germline gene editing. Background document to the recommendations of ESHG and ESHRE.

Hum Reprod Open 2018 12;2018(1):hox024. Epub 2018 Jan 12.

Department of Clinical Genetics, Section Community Genetics, and Amsterdam Public Health Research Institute, VU University Medical Center, Van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/hropen/hox024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276657PMC
January 2018

Human germline gene editing. Recommendations of ESHG and ESHRE.

Hum Reprod Open 2018 12;2018(1):hox025. Epub 2018 Jan 12.

Department of Clinical Genetics, Section Community Genetics, and Amsterdam Public Health Research Institute, VU University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/hropen/hox025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276661PMC
January 2018

Setleis syndrome: genetic and clinical findings in a new case with epilepsy.

Pediatr Neurol 2014 Apr 14;50(4):389-91. Epub 2013 Dec 14.

Division of Medical Genetics, Galliera Hospital, Genova, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.12.009DOI Listing
April 2014

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Am J Med Genet A 2013 Nov 7;161A(11):2894-901. Epub 2013 Oct 7.

Clinical Genetics Unit, Obstetric and Paediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S Maria Nuova, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36259DOI Listing
November 2013

Growth hormone, gender and face shape in Prader-Willi syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2453-63. Epub 2013 Aug 5.

Molecular Medicine Unit, UCL Institute of Child Health, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.36100
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http://dx.doi.org/10.1002/ajmg.a.36100DOI Listing
October 2013

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

Eur J Med Genet 2013 Apr 26;56(4):216-21. Epub 2013 Jan 26.

Division of Medical Genetics, Galliera Hospital, Via Volta 6, 16128 Genova, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2013.01.005DOI Listing
April 2013

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.

Am J Med Genet A 2012 Sep 17;158A(9):2245-9. Epub 2012 Jul 17.

Clinical Genetics Unit-Obstetric and Pediatric Department, Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35474DOI Listing
September 2012

19q13 microdeletion syndrome: Further refining the critical region.

Eur J Med Genet 2012 Jun 10;55(6-7):429-32. Epub 2012 Apr 10.

Division of Medical Genetics, Galliera Hospital, Via Volta 6, Genoa, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.03.002DOI Listing
June 2012

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

Italian appeal court: a genetic predisposition to commit murder?

Eur J Hum Genet 2010 May 10;18(5):519-21. Epub 2010 Mar 10.

Clinical Genetics Unit, Galliera Hospital, Genova, Italy.

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http://dx.doi.org/10.1038/ejhg.2010.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987314PMC
May 2010

The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.

Mol Cell Probes 2010 Apr 21;24(2):107-9. Epub 2009 Oct 21.

Laboratory of Genetics, Galliera Hospital, Via Volta 6, 16128 Genova, Italy.

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http://dx.doi.org/10.1016/j.mcp.2009.10.006DOI Listing
April 2010

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

Am J Med Genet A 2008 Dec;146A(23):3095-9

Laboratory of Genetics, Galliera Hospital, and Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32568DOI Listing
December 2008

Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome.

Prenat Diagn 2006 Nov;26(11):1081-3

Human Genetics Department, Galliera Hospital, Genova, Italy.

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http://dx.doi.org/10.1002/pd.1565DOI Listing
November 2006

Midline raphé, sternal cleft, and other midline abnormalities: a new dominant syndrome?

Am J Med Genet A 2005 May;135(1):9-12

Clinical Genetics Unit, Great Ormond Street Hospital, London, United Kingdom.

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http://doi.wiley.com/10.1002/ajmg.a.30682
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http://dx.doi.org/10.1002/ajmg.a.30682DOI Listing
May 2005