[HTML][HTML] Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review

EC Gavril, I Nucă, MC Pânzaru, AV Ivanov, CT Mihai… - Genes, 2023 - mdpi.com
2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric
deletion disorders, caused by a 2q37 deletion of variable size. The syndrome is …

[HTML][HTML] Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review

J Paprocka, K Kaminiów, O Yetkin, P Tekturk, B Baykan… - Seizure, 2022 - Elsevier
Wolf–Hirschhorn syndrome (WHS) is araredisorderwithan estimated prevalence being
around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region (Wolf …

[HTML][HTML] Wolf-Hirschhorn syndrome candidate 1 (Whsc1) methyltransferase signals via a Pitx2-miR-23/24 axis to effect tooth development

D Su, S Eliason, Z Sun, F Shao, BA Amendt - Journal of Biological …, 2023 - ASBMB
Wolf-Hirschhorn syndrome (WHS) is a developmental disorder attributed to a partial deletion
on the short arm of chromosome 4. WHS patients suffer from oral manifestations including …

Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study

J Liu, Q Liu, J Zhao, S Lin, Y Zhou - … Journal of Obstetrics & Gynecology and …, 2024 - Elsevier
Objectives: To comprehensively evaluate the contributions of numerical chromosomal
abnormality, copy number variant (CNV), and sequence variant (SV) to fetuses with small …

[HTML][HTML] Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager

DE Popescu, D Marian, M Zeleniuc… - Balkan Journal of …, 2023 - sciendo.com
Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size,
in the short arm of chromosome 4. The syndrome displays the combination of typical …

[HTML][HTML] Fingernail form as a Post-Extraction Guide for Selecting the Maxillary Central Incisor Tooth form in the Saudi Arabian Population: A Novel Application of CAD …

AM Joseph, SD Aldhuwayhi, MZ Mustafa… - Nigerian Journal of …, 2023 - journals.lww.com
Background: Human teeth and nails have demonstrated similar factors genetically,
embryologically, and morphologically. The fingernail form may be used as a post-extraction …

Current Preclinical Applications of Pharmaco-Epigenetics in Cardiovascular Diseases

C Papulino, U Chianese, L Scisciola, A Ali… - Cancer …, 2023 - Springer
Epigenetics is closely related to heart diseases. Genome-wide studies have highlighted the
complexity of cardiovascular disease and involvement of epigenetic processes, including …

[HTML][HTML] Wolf-Hirschhorn syndrome with intrauterine growth restriction in a fetus: A case report

X Wang, J Sha, J Zhai, B Zhang… - Medicine: Case Reports …, 2022 - journals.lww.com
Interventions: After genetic counseling, the couple opted to terminate her pregnancy.
Outcomes: Cytogenetic examination of the fetus revealed karyotype 46, XX, del (4)(p15. 3) …

Эпилепсия и врожденный церебральный паралич: параллели между локализацией аномалий генома и клиническими проявлениями

ПЛ Соколов, НВ Чебаненко… - Русский журнал …, 2024 - rjdn.abvpress.ru
Аннотация Прогресс в молекулярной генетике постепенно приводит к кардинальному
пересмотру представлений о природе не только признанных генетически …

Гетерогенность механизмов формирования хромосомного дисбаланса при синдроме Вольфа-Хиршхорна

ДА Юрченко, МЕ Миньженкова… - Медицинская …, 2022 - medgen-journal.ru
Аннотация Синдром Вольфа-Хиршхорна (WHS, OMIM 194190)-это один из наиболее
частых микроделеционных синдромов, представленный гетерозиготной делецией …