Matteo della Monica

Matteo della Monica

UNVERIFIED PROFILE

Are you Matteo della Monica?   Register this Author

Register author
Matteo della Monica

Matteo della Monica

Publications by authors named "Matteo della Monica"

Are you Matteo della Monica?   Register this Author

32Publications

1095Reads

15Profile Views

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Eur J Hum Genet 2019 Jun 25;27(6):909-918. Epub 2019 Jan 25.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0335-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777581PMC
June 2019

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.

Ital J Pediatr 2018 Nov 20;44(1):138. Epub 2018 Nov 20.

Division of Pediatric Endocrinology, Meyer University Children's Hospital, University of Florence, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13052-018-0580-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245908PMC
November 2018

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.

Eur J Med Genet 2017 Jul 13;60(7):365-368. Epub 2017 Apr 13.

Medical Genetics Unit, Meyer Children's University Hospital, viale Gaetano Pieraccini, 24, 50139 Florence, Italy; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, viale Gaetano Pieraccini, 6, 50139 Florence, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.04.007DOI Listing
July 2017

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.

Pediatr Pulmonol 2014 Mar 4;49(3):E45-7. Epub 2013 Mar 4.

U.O.C. Medical Genetics, Institute Giannina Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.22790DOI Listing
March 2014

Genetic Drift: the Salernitan school of medicine: women, men, and children. A syndromological review of the oldest medical school in the western world.

Am J Med Genet A 2013 Apr 26;161A(4):809-16. Epub 2013 Feb 26.

Medical Genetics Division, General Hospital Gaetano Rummo, Benevento, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35742DOI Listing
April 2013

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.

Am J Med Genet A 2012 Jul 7;158A(7):1604-11. Epub 2012 Jun 7.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35419DOI Listing
July 2012

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Am J Med Genet A 2012 Apr 14;158A(4):917-21. Epub 2012 Mar 14.

Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Università di Bologna, Policlinico Sant'Orsola Malpighi, U.O. Genetica Medica, Bologna, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35265DOI Listing
April 2012

Al-Awadi/Raas-Rothschild syndrome: two new cases and review.

Am J Med Genet A 2007 Dec;143A(24):3169-74

Medical Genetics Department, Gaetano Rummo Hospital, Benevento, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31712DOI Listing
December 2007

Congenital scoliosis associated with agenesis of the uterine cervix. Case report.

BMC Womens Health 2004 Jun 30;4(1). Epub 2004 Jun 30.

Università di Roma La Sapienza, Corso di Laurea in Ostetricia, Unità Operativa Ginecologia e Ostetricia, Azienda Ospedaliera "Gaetano Rummo", Via dell'Angelo 1, 82100 Benevento, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1472-6874-4-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC459232PMC
June 2004

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

Am J Med Genet A 2004 Apr;126A(2):204-7

Istituto di Genetica Medica, Università Cattolica del S. Cuore, Facoltà di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.20575
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.20575DOI Listing
April 2004

A family with X-linked recessive fusion of metacarpals IV and V.

Am J Med Genet A 2004 Feb;124A(4):407-10

Division of Medical Genetics, Gaetano Rummo Hospital, Via dell'Angelo 1, I-82100 Benevento (BN), Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.20382
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.20382DOI Listing
February 2004