Francesca Mari

Francesca Mari

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Francesca Mari

Francesca Mari

Publications by authors named "Francesca Mari"

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MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.

Eur J Med Genet 2019 Feb 5. Epub 2019 Feb 5.

Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2019.01.017DOI Listing
February 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

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.

Clin Dysmorphol 2017 Jan;26(1):18-25

aMedical Genetics, Department of Medical Biotechnologies bBioengineering Unit, Department of Medical Biotechnologies, University of Siena cMedical Genetics Unit, Department of Medical Biotechnologies dDepartment of Neurology NINT (Neuroimmagini e Neurointerventistica), Azienda Ospedaliera Universitaria Senese eDepartment of Obstetrics and Gynecology, Azienda, Siena, Italy.

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http://dx.doi.org/10.1097/MCD.0000000000000152DOI Listing
January 2017

Nicolaides-Baraitser syndrome: defining a phenotype.

J Neurol 2016 Aug 10;263(8):1659-60. Epub 2016 Jun 10.

Neurodegenerative Disease Unit, Department of Medical, Surgical, and Neurological Sciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-016-8194-0DOI Listing
August 2016

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology.

J Neurol Sci 2015 Dec 9;359(1-2):409-17. Epub 2015 Oct 9.

Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.09.377DOI Listing
December 2015

Epilepsy in Rett syndrome--lessons from the Rett networked database.

Epilepsia 2015 Apr 19;56(4):569-76. Epub 2015 Mar 19.

Pediatric Neurology Unit and Rett National Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/epi.12941DOI Listing
April 2015

A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngioma.

J Androl 2012 Nov-Dec;33(6):1155-9. Epub 2012 Apr 19.

Unit of Internal Medicine and Endocrinology, Fondazione Salvatore Maugeri IRCCS, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.2164/jandrol.111.016204DOI Listing
October 2014

Triorchidism: genetic and imaging evaluation in an adult male.

Arch Ital Urol Androl 2014 Jun 30;86(2):156-7. Epub 2014 Jun 30.

Urological and Andrological Unit, Department of Medicine, Surgery and Neuroscience, Siena.

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http://dx.doi.org/10.4081/aiua.2014.2.156DOI Listing
June 2014

iPS cells to model CDKL5-related disorders.

Eur J Hum Genet 2011 Dec 13;19(12):1246-55. Epub 2011 Jul 13.

Medical Genetics, Department of Biotechnology, University of Siena, Policlinico S. Maria alle Scotte, viale Bracci 2, Siena, Italy.

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http://www.nature.com/articles/ejhg2011131
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http://dx.doi.org/10.1038/ejhg.2011.131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3218106PMC
December 2011

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Am J Med Genet A 2011 Aug 7;155A(8):1857-64. Epub 2011 Jul 7.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34072DOI Listing
August 2011

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

Pediatr Nephrol 2011 May 14;26(5):717-24. Epub 2010 Dec 14.

Department Molecular Biology, Medical Genetics, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s00467-010-1693-9DOI Listing
May 2011

Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family.

Brain Dev 2010 May 7;32(5):421-4. Epub 2009 May 7.

Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.braindev.2009.04.004DOI Listing
May 2010

EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.

Clin Neurophysiol 2010 May 12;121(5):652-7. Epub 2010 Feb 12.

Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Child Neurology and Psychiatry Pediatrics, Azienda Ospedaliera Universitaria Senese, S. Maria alle Scotte Hospital, Siena, Italy.

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http://dx.doi.org/10.1016/j.clinph.2010.01.003DOI Listing
May 2010

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

Eur J Med Genet 2009 Mar-Jun;52(2-3):148-52. Epub 2009 Mar 19.

Medical Genetics, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2009.03.004DOI Listing
September 2009

RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.

Clin Chim Acta 2007 Sep 26;384(1-2):35-40. Epub 2007 May 26.

Biological Chemistry, Department of Molecular Biology, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.cca.2007.05.016DOI Listing
September 2007

Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma.

Graefes Arch Clin Exp Ophthalmol 2006 Sep 27;244(9):1077-82. Epub 2006 Jan 27.

Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s00417-005-0079-3DOI Listing
September 2006

Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome.

Eur J Pediatr 2005 Nov 12;164(11):710; author reply 711-2. Epub 2005 Jul 12.

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http://dx.doi.org/10.1007/s00431-005-1717-9DOI Listing
November 2005

Type-IV collagen related diseases.

J Nephrol 2003 Mar-Apr;16(2):314-6

Medical Genetics, Department of Molecular Biology, Policlinico Le Scotte, University of Siena, Viale Bracci 2, 53100 Siena, Italy.

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August 2003

Rett syndrome: the complex nature of a monogenic disease.

J Mol Med (Berl) 2003 Jun 16;81(6):346-54. Epub 2003 May 16.

Medical Genetics, Policlinico Le Scotte, University of Siena, via Bracci 2, 53100 Siena, Italy.

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http://link.springer.com/content/pdf/10.1007/s00109-003-0444
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http://link.springer.de/link/service/journals/00109/contents
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http://dx.doi.org/10.1007/s00109-003-0444-9DOI Listing
June 2003

Study of MECP2 gene in Rett syndrome variants and autistic girls.

Am J Med Genet B Neuropsychiatr Genet 2003 May;119B(1):102-7

Department of Child Neuropsychiatry, Azienda Ospedaliera Senese, Siena, Italy.

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http://dx.doi.org/10.1002/ajmg.b.10070DOI Listing
May 2003

Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.

Science 2003 Jan;299(5604):259-62

Molecular Biology Program, Department of Pathology, Memorial Sloan-Kettering Cancer Center, Sloan-Kettering Institute, 1275 York Avenue, New York, NY 10021, USA.

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http://dx.doi.org/10.1126/science.1079447DOI Listing
January 2003