[HTML][HTML] Role of long non-coding RNA H19 in the development of osteoporosis

S Chen, D Liu, Z Zhou, S Qin - Molecular Medicine, 2021 - Springer
Background Osteoporosis is a widespread and serious metabolic bone disease. At present,
revealing the molecular mechanisms of osteoporosis and developing effective prevention …

[HTML][HTML] Placental dysfunction in assisted reproductive pregnancies: perinatal, neonatal and adult life outcomes

C Manna, V Lacconi, G Rizzo, A De Lorenzo… - International Journal of …, 2022 - mdpi.com
Obstetric and newborn outcomes of assisted reproductive technology (ART) pregnancies
are associated with significative prevalence of maternal and neonatal adverse health …

[PDF][PDF] Maternal effect genes: Update and review of evidence for a link with birth defects

LE Mitchell - Human Genetics and Genomics Advances, 2022 - cell.com
Maternal effect genes (MEGs) encode factors (eg, RNA) that are present in the oocyte and
required for early embryonic development. Hence, while these genes and gene products are …

Histopathologic features of adrenal cortical carcinoma

A Gambella, M Volante, M Papotti - Advances in Anatomic …, 2023 - journals.lww.com
Adrenal cortical carcinoma (ACC) is a rare and aggressive malignancy that poses
challenging issues regarding the diagnostic workup. Indeed, no presurgical technique or …

[HTML][HTML] Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

L Bilo, E Ochoa, S Lee, D Dey, I Kurth, F Kraft… - Clinical …, 2023 - Springer
Abstract Background Imprinting disorders (ImpDis) comprise diseases which are caused by
aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A …

[HTML][HTML] Maxillo-facial morphology in Beckwith-Wiedemann syndrome: A preliminary study on (epi) genotype-phenotype association in caucasians

P Defabianis, A Mussa, R Ninivaggi, D Carli… - International Journal of …, 2022 - mdpi.com
Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by
various (epi) genetic alterations affecting the expression of genes on chromosome 11p15 …

[HTML][HTML] Oral health-related quality of life among children and adolescents with Beckwith–Wiedemann syndrome in northern Italy

P Defabianis, R Ninivaggi, F Romano - Journal of Clinical Medicine, 2022 - mdpi.com
Due to associated maxillofacial growth anomalies and the impairment of oral functions,
macroglossia may negatively impact the oral health-related quality of life (OHRQoL) of …

[HTML][HTML] The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

AT Pagnamenta, J Yu, S Walker, AJ Noble… - The American Journal of …, 2024 - cell.com
Detection of structural variants (SVs) is currently biased toward those that alter copy number.
The relative contribution of inversions toward genetic disease is unclear. In this study, we …

[HTML][HTML] Dentoskeletal features and growth pattern in Beckwith-Wiedemann spectrum: is surgical tongue reduction always necessary?

P Defabianis, R Ninivaggi, F Romano - Clinical Oral Investigations, 2023 - Springer
Objectives The role of tongue reduction surgery (TRS) in preventing excessive mandibular
growth and anterior open bite in children with Beckwith–Wiedemann Spectrum (BWSp) is …

Prepubertal children with obesity have high free IGF-1 levels and accelerated growth despite reduced pappalysin levels

Á Martín-Rivada, GÁ Martos-Moreno… - The Journal of …, 2024 - academic.oup.com
Background Prepubertal children with obesity frequently have enhanced growth,
accelerated skeletal maturation, and changes in the growth hormone–insulin-like growth …