Results 51 to 60 of about 60,147,798 (196)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1821-1831, August 2026.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Dental Management of Cornelia de Lange Syndrome: A Rare Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital defect often called as Amsterdam dwarfism. The physical phenotype of CdLS includes low birth body weight, short stature and facio-cranial dysmorphia. The diagnosis of the syndrome is based
Meera Sandhu, Mehak Nagpal, Shweta Gulia, Vinod Sachdev   +3 more
doaj   +1 more source

Real‐world outcomes of responsive neurostimulation in patients with Lennox–Gastaut syndrome: A multicenter retrospective study

Epilepsia Open, Volume 11, Issue 4, Page 1244-1254, August 2026.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types and high resistance to antiseizure medication (ASM), often necessitating nonpharmacologic therapies, including neuromodulation.
Shanna M. Swartwood, Robert J. Bollo, Catherine J. Chu, Alexandra L. Geffrey, Robert Mark Richardson, Hiroki Nariai, Aria Fallah, Samuel Ahn, Saadi Ghatan, Laura Chenevert, Maite La Vega‐Talbott, Audie C. Espinoza   +11 more
wiley   +1 more source

Treatment of Cornelia de Lange syndrome: Evidence-basedmedicineandexpert opinion 2

, 2022
Al-Mosawi AJ.Treatment of Cornelia de Lange syndrome: Evidence-basedmedicineandexpert opinion 2 Biomedical and Biotechnological Sciences August 5 ; 1(2): 1-3.
Al-Mosawi,Aamir
core   +1 more source

Pollen longevity and viability dataset: an integrated resource for plant research and conservation

New Phytologist, Volume 251, Issue 4, Page 1631-1639, August 2026.
The most common methods to estimate pollen viability. Summary Pollen viability and longevity are key traits in plant reproduction, with implications for gene flow, crop breeding, and ex situ plant conservation. However, published data on these traits remain dispersed across disciplines, languages, and methods, limiting their accessibility and reuse ...
Louise Winther, Conny Bruun Asmussen Lange, Sergey Rosbakh   +2 more
wiley   +1 more source

Cornelia de Lange Syndrome and orofacial implications [PDF]

, 2020
Background and objective: Cornelia de Lange syndrome is a rare disease with a very wide and genetically heterogeneous phenotypic variability that affects multiple organs and systems.
Leal, Fernanda, Silva, G. F., Cardoso, Inês Lopes   +2 more
core   +1 more source

Cornelia De Lange Syndrome and Cochlear Implantation [PDF]

Iranian Journal of Otorhinolaryngology, 2018
Introduction: Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss.
George Psillas, Stefanos Triaridis, Vasiliki Chatzigiannakidou, Jiannis Constantinidis   +3 more
doaj   +1 more source

A Novel Fetal Intracranial Measurement Contributing to the Differential Diagnosis of Fetal Microcephaly

Journal of Ultrasound in Medicine, Volume 45, Issue 7, Page 1409-1418, July 2026.
Objectives To evaluate the value of the thickness of the frontal lobe (TFL) and foramen magnum‐to‐cranium distance (FCD) for predicting poor neurodevelopmental outcomes in fetuses with a small head circumference (HC). Methods This retrospective observational study included 39 fetuses with HC < −2 standard deviations (SD) and 592 prospectively collected
Xi Du, Rong Zhu, HongJia Li, Ying Zhao, LinLin Wu, Hong Pan, YiNan Ma, XinLin Hou, JunYa Chen   +8 more
wiley   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 1, Page 29-35, July 2026.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Classical cornelia de lange syndrome

Ghana Medical Journal, 2010
SummaryThese two case reports illustrate the importance of doing a thorough dysmorphology examination for all so called "Multiple congenital anomalies" children and attempting to fit them into a recognized syndrome. Well over 2000 dysmorphic syndromes are now recognized and diagnosis of these children can be extremely difficult.
openaire   +4 more sources