Search filters

List of works by Matteo Cassina

14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?

scientific article published on 06 July 2013

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

scientific article published on March 2016

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome

scientific article published on 14 December 2016

Analysis of p53 polymorphisms in individuals with multiple melanocytic nevi

scientific article published in April 2013

Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published Studies.

scientific article published in November 2017

Clinical and genetic correlates of decision making in anorexia nervosa

scientific article published on 29 December 2015

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

scientific article published on 10 November 2015

Congenital Pulmonary Airway Malformation (CPAM) [Congenital Cystic Adenomatoid Malformation] Associated with Tracheoesophageal Fistula and Agensesis of the Corpus Callosum

scientific article published on 13 March 2012

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations

scientific article

Correction: Martini, A.; Cassina, M. Victor A. McKusick, the “Father of Medical Genetics”. Audiol. Res. 2021, 11, 636–638

scientific article published in 2022

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature

scientific article published in 2021

Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement

scientific article published on 22 July 2019

Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies

scientific article published in December 2012

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

scientific article published on 21 April 2016

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

scientific article published in January 2017

FBXO28is a critical gene of the 1q41q42 microdeletion syndrome

article

First trimester diclofenac exposure and pregnancy outcome

scientific article published on 10 May 2010

First-trimester exposure to metformin and risk of birth defects: a systematic review and meta-analysis

scientific article

Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy

scientific article published on 07 January 2015

Functional connectivity correlates of response inhibition impairment in anorexia nervosa

scientific article published on 2 December 2015

Genetic susceptibility to teratogens: state of the art.

scientific article published on June 2012

Genetics & Epigenetics of Hereditary Deafness: An Historical Overview

scientific article published in 2021

Genetics of coenzyme q10 deficiency

scientific article published on July 2014

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

scientific article

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

scientific article published on March 2012

Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation

scientific article published on 14 September 2016

Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A.

scientific article

Medications in Pregnancy and Lactation

scientific article published on 01 July 2009

Migraine therapy during pregnancy and lactation

scientific article

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.

scientific article published in December 2017

Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1.

scientific article

Pharmacologic treatment of hyperthyroidism during pregnancy

scientific article published on 18 April 2012

Pregnancy outcome in women exposed to antiepileptic drugs: teratogenic role of maternal epilepsy and its pharmacologic treatment

scientific article published on 13 April 2013

Pregnancy outcome in women exposed to leflunomide before or during pregnancy

scientific article

Pregnancy outcomes in women on metformin for diabetes or other indications among those seeking teratology information services

scientific article published on 7 December 2017

Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases

scientific article published on 7 December 2017

Prevalence, characteristics, and survival of children with esophageal atresia: A 32-year population-based study including 1,417,724 consecutive newborns

scientific article

RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1: A Study Using Optical Coherence Tomography Angiography

scientific article

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays

scientific article

Response to: Papetti et al., “The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome”

Serotonin transporter gene polymorphism in eating disorders: Data from a new biobank and META-analysis of previous studies

scientific article

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

scientific article published on 16 February 2020

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency

scientific journal article

Therapy of inflammatory bowel diseases in pregnancy and lactation

scientific article

Treatment of Hyperthyroidism in Pregnancy and Birth Defects

scholarly article by Maurizio Clementi et al published March 2011 in Obstetrical and Gynecological Survey

Treatment of hyperthyroidism in pregnancy and birth defects.

scientific article published on 28 July 2010

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay

scientific article published on 9 March 2015

Victor A. McKusick, the “Father of Medical Genetics”

scientific article published in 2021

Paulina is supported by:

About Paulina

Help