Publications by authors named "Patrizia Fiorio"

10Publications

Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in a Fetus With Malformations Typical of Both Trisomies.

J Ultrasound Med 2020 Nov 15;39(11):2277-2279. Epub 2020 May 15.

Fetal Medicine and Surgery Unit, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy.

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November 2020

1p31.1 microdeletion including only NEGR1 gene in two patients.

Eur J Med Genet 2020 Jun 21;63(6):103919. Epub 2020 Mar 21.

Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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June 2020

Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism.

Gynecol Endocrinol 2017 Oct 9;33(10):763-765. Epub 2017 May 9.

a Department of Neurosciences , Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa , Genoa , Italy.

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October 2017

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

Hum Mutat 2010 Dec 9;31(12):1352-9. Epub 2010 Nov 9.

Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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December 2010