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

M Cassina, M Dona, E Di Gianantonio… - Human reproduction …, 2014 - academic.oup.com
… were evaluated independently by two reviewers (Cassina and Donà) for exclusion of
reviews, … Finally, relevant studies for the meta-analysis were reviewed by three authors (Cassina, …

Genetics of coenzyme q10 deficiency

M Doimo, MA Desbats, C Cerqua, M Cassina… - Molecular …, 2014 - karger.com
Coenzyme Q 10 (CoQ 10 ) is an essential component of eukaryotic cells and is involved in
crucial biochemical reactions such as the production of ATP in the mitochondrial respiratory …

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

…, R Burghardt, M Cassina, S Cichon, M Clementi… - Nature …, 2019 - nature.com
Characterized primarily by a low body-mass index, anorexia nervosa is a complex and
serious illness 1 , affecting 0.9–4% of women and 0.3% of men 2 , 3 – 4 , with twin-based …

[HTML][HTML] Epigenetics of pregnancy: looking beyond the DNA code

…, C Piccolo, A Capalbo, A Andrisani, M Cassina - Journal of Assisted …, 2022 - Springer
Epigenetics is the branch of genetics that studies the different mechanisms that influence
gene expression without direct modification of the DNA sequence. An ever-increasing amount …

Treatment of hyperthyroidism in pregnancy and birth defects

…, E Di Gianantonio, M Cassina… - The Journal of …, 2010 - academic.oup.com
Context: Clinical hyperthyroidism is not uncommon in pregnancy, with a reported prevalence
of 0.1 to 0.4%. The available antithyroid drugs are propylthiouracil and methimazole/…

Pregnancy outcome in women exposed to leflunomide before or during pregnancy

M Cassina, DL Johnson, LK Robinson… - Arthritis & …, 2012 - Wiley Online Library
Objective Findings from animal studies have suggested that leflunomide may be a human
teratogen. In the only human cohort study published to date, an increase in adverse outcomes …

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

…, V Pertegato, M Doimo, M Cassina… - Journal of medical …, 2012 - jmg.bmj.com
Background COQ4 encodes a protein that organises the multienzyme complex for the synthesis
of coenzyme Q 10 (CoQ 10 ). A 3.9 Mb deletion of chromosome 9q34.13 was identified …

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

M Cassina, M Ruol, R Pertile, P Midrio… - … Research Part A …, 2016 - Wiley Online Library
… All cases who were born with EA (ICD9 codes: 750.3) from 1981 to 2012 were reviewed
by two medical geneticists (M.Ca. and M.Cl.) and selected for this study. EA was deemed …

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency

…, M Doimo, V Ciminale, M Cassina… - Human molecular …, 2016 - academic.oup.com
COQ2 (p-hydroxybenzoate polyprenyl transferase) encodes the enzyme required for the
second step of the final reaction sequence of Coenzyme Q 10 (CoQ) biosynthesis. Its mutations …

[HTML][HTML] A multi-method approach to the molecular diagnosis of overt and borderline 11p15. 5 defects underlying Silver–Russell and Beckwith–Wiedemann …

…, E Mainini, M Cassina, S Di Candia, M Clementi… - Clinical …, 2016 - Springer
Background Multiple (epi)genetic defects affecting the expression of the imprinted genes
within the 11p15.5 chromosomal region underlie Silver–Russell (SRS) and Beckwith–…