[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 …
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 …
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 …
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 …
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
Abstract Background Imprinting disorders (ImpDis) comprise diseases which are caused by
aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A …
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 …
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 …
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
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 …
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 …
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 …
accelerated skeletal maturation, and changes in the growth hormone–insulin-like growth …