List of works - Massimiliano Rossi

A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)

scientific article published on 01 January 2005

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

scientific article

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.

scientific article published on 9 March 2018

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

scientific article published on 9 June 2017

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

scientific article published on 17 January 2018

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

scientific article published on 07 January 2014

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

scientific article

Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells

scientific article published in May 2007

Mandibular-Pelvic-Patellar syndrome (MPP) is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability

scientific article published on 29 June 2020

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence

scientific article published on 05 April 2019

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

scientific article published on 31 May 2019

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

scientific article published on 27 November 2017

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

scientific article published on 27 August 2019

The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation ⬇️

scientific article published on October 1, 2003

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

scientific article published on 10 December 2018

ZEB2, a new candidate gene for asplenia

scientific article published on 8 January 2014

List of works by Massimiliano Rossi