Results 41 to 50 of about 60,147,798 (196)

Prenatal imaging phenotypes and outcomes of umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies: A historical cohort study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This retrospective cohort compared umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies. Type III was the most common subtype in singletons, whereas Type II was the most common in twins. Fetal growth restriction was more frequent in twins, but primary structural anomaly rates were similar.
Yun Zhang, Meng Meng, Fengyu Wu, Jianping Chen, Fenhe Zhou, Yuchun Ge, Ya Xing, Xinyao Zhou, Gang Zou   +8 more
wiley   +1 more source

CORNELIA DE LANGE SYNDROME: A CASE REPORT [PDF]

, 2011
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The first ever documented case was in 1916 by W. Brachmann followed up by Cornelia de Lange, a Dutch pediatrician, in 1933 after whom the disorder has been named ...
Babikir, Haydar E.
core   +1 more source

Factors Associated With Challenging Behaviour in People With Severe‐Profound Intellectual Disabilities: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Individuals with severe to profound intellectual disability (ID) exhibit high support needs and significant communication impairments and may present with challenging behaviours such as aggression, self‐injury and stereotypies. These behaviours can cause distress, hinder healthcare access and delivery and impair quality of life for ...
I. D. C. van Balkom, J. Cooke, A. G. de Cuba, E. Burkitt‐Wright, C. Gaasterland, M. Burdeus‐Olavarrieta   +5 more
wiley   +1 more source

Case Report - Cornelia de Lange syndrome

, 2003
Two cases of Cornelia de Lange syndrome with similar phenotypic features are ...
B. Safia, K. Muhammed
core   +2 more sources

NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR

Cell Reports, 2016
NIPBL, a cohesin loader, has been implicated in transcriptional control and genome organization. Mutations in NIPBL, cohesin, and its deacetylase HDAC8 result in Cornelia de Lange syndrome.
Kobe C. Yuen, Baoshan Xu, Ian D. Krantz, Jennifer L. Gerton   +3 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2547-2552, November 2026.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

Frontiers in Neurology, 2018
Splicing pathogenic variants account for a notable fraction of NIPBL alterations underlying Cornelia de Lange syndrome but are likely underrepresented, due to overlooking of non-canonical intronic variants by traditional and contemporary sequencing ...
Maura Masciadri, Anna Ficcadenti, Donatella Milani, Francesca Cogliati, Maria Teresa Divizia, Lidia Larizza, Silvia Russo   +6 more
doaj   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Anesthetic management of two patients with cornelia De lange syndrome [PDF]

, 2012
Yıl: 2012Cilt: 20Sayı: 2ISSN: 1300-0578Sayfa Aralığı: 106 - 109 Metin Dili:Türkçe Öz:Cornelia de Lange sendromu mezenkimin hipoplazisine sekonder geliştiği düşünülen gelişme geriliği, mental retardasyon, hirşutizm, kardiyak, gastrointestinal ve kas ...
Bucak, Nizamettin, Erdoğan, M. Ali, Özgül, Ülkü, Ersoy, M. Özcan, Begeç, Zekine, Yücel, Aytaç   +5 more
core   +1 more source

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, Volume 46, Issue 10, Page 1557-1564, September 2026.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source