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, …
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 …
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 …
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 …
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/…
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 …
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 …
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 …
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 …
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–…
within the 11p15.5 chromosomal region underlie Silver–Russell (SRS) and Beckwith–…