Publications by authors named "Francesca Faravelli"

60Publications

A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.

Clin Dysmorphol 2019 Oct;28(4):219-223

Departments of Clinical Genetics.

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http://dx.doi.org/10.1097/MCD.0000000000000291DOI Listing
October 2019

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus.

Proc Natl Acad Sci U S A 2015 Jun 8;112(25):E3207-15. Epub 2015 Jun 8.

Institut National de la santé et de la Recherche Médicale (INSERM, U1036), Grenoble, France F-38000; Commissariat à l'Énergie Atomique et aux Energies Alternatives, Institut de Recherches en Technologies et Sciences pour le Vivant, Laboratoire Biologie du Cancer et de l'Infection, Grenoble, France F-38000; Université Grenoble-Alpes, Grenoble, France F-38000;

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http://dx.doi.org/10.1073/pnas.1508386112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485134PMC
June 2015

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

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

Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis?

Am J Med Genet A 2013 Jun 1;161A(6):1214-20. Epub 2013 May 1.

Section of Dermatology, Department of Health Sciences, University of Genoa, and Unit of Radiology, Galliera Hospital, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35908DOI Listing
June 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

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

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

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

Am J Med Genet A 2007 Jun;143A(11):1169-73

SC Genetica Umana, Ospedale Galliera, Genova, and Istituto di Genetica Medica, Facoltà di Mediciina e Chirurgia, Policlinico A. Gemelli, UCSC, Roma, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.31723
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http://dx.doi.org/10.1002/ajmg.a.31723DOI Listing
June 2007

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

NSD1 mutations in Sotos syndrome.

Am J Med Genet C Semin Med Genet 2005 Aug;137C(1):24-31

Department of Human Genetics of Galliera Hospital, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.c.30061DOI Listing
August 2005

Oligoyric microcephaly in a child with Williams syndrome.

Am J Med Genet A 2003 Mar;117A(2):169-71

Department of Pediatric Neurology, Besta Institute, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.10892DOI Listing
March 2003