Maria Antonietta Pisanti

Maria Antonietta Pisanti

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Maria Antonietta Pisanti

Maria Antonietta Pisanti

Publications by authors named "Maria Antonietta Pisanti"

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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

A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.

Am J Med Genet A 2016 09 4;170(9):2445-8. Epub 2016 Jul 4.

Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37824DOI Listing
September 2016

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.

Eur J Med Genet 2015 Sep 17;58(9):488-91. Epub 2015 Jul 17.

UO Genetica Medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.06.009DOI Listing
September 2015

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

J Med Genet 2015 Jun 9;52(6):405-12. Epub 2015 Mar 9.

Pediatric Neurology and Neurogenetics Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1136/jmedgenet-2014-102959DOI Listing
June 2015