Results 31 to 40 of about 2,170 (250)

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients

Frontiers in Genetics, 2021
Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. Mutation in the NIPBL gene accounts for nearly 60% of the cases.
Ying Peng, Changbiao Liang, Hui Xi, Shuting Yang, Jiancheng Hu, Jialun Pang, Jing Liu, Yingchun Luo, Chengyuan Tang, Wanqin Xie, Hua Wang   +10 more
doaj   +1 more source

A Cornelia De Lange Syndrome Patient with Cleft Palate: A Case Report with Intraoral and Extraoral Findings

European Annals of Dental Sciences, 2023
Objective: This case report presents the clinical and genetic findings in a one-week-old male patient with Cornelia de Lange Syndrome (CdLS) and unilateral cleft palate with a review of literature which includes case reports with cleft lip and palate ...
Beste Kamiloğlu, İsmet Ersalıcı, Gürkan Ünsal   +2 more
doaj   +1 more source

Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report

Children
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a distinctive facial appearance, growth/cognitive retardation, developmental delay, skeletal malformation, hypertrichosis, and other abnormalities. Patients with mild CdLS have
So Yoon Choi, Yoo-Rha Hong, Chi-Eun Oh, Jung Hyun Lee   +3 more
doaj   +1 more source

Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report

American Journal of Perinatology Reports
Cornelia de Lange's syndrome (CDLS) is a multisystem genetic syndrome characterized by well-defined physical, intellectual, and behavioral characteristics.
Amna Iftikhar, Kathleen Barnes, Melissa Figueroa, Antonia P. Francis   +3 more
doaj   +1 more source

Biomass Native Structure Into Functional Carbon‐Based Catalysts for Fenton‐Like Reactions

Advanced Functional Materials, EarlyView.
This study indicates that eight biomasses with 2D flaky and 1D acicular structures influence surface O types, morphology, defects, N doping, sp2 C, and Co nanoparticles loading in three series of carbon, N‐doped carbon, and cobalt/graphitic carbon. This work identifies how these structural factors impact catalytic pathways, enhancing selective electron
Wenjie Tian, Jingkai Lin, Zhihao Tian, Selusiwe Ncube, Huayang Zhang, Emiliano Cortés, Hongqi Sun, Shaobin Wang   +7 more
wiley   +1 more source

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

BMC Medical Genomics
Background Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of the literature on CdLS and investigate two cases ...
Sahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, Farzad Hashemi-Gorji, Ashkan Omidi, Hossein Sadeghi, Reza Mirfakhraie, Parinaz Moghimi, Sepideh Keyvanfar, Sepideh Mohammadi Sarvaleh, Mohammad Miryounesi, Mohammad-Reza Ghasemi   +11 more
doaj   +1 more source

Dimensionality‐Driven Interfacial Electronic Coupling in Carbon‐Supported Gd‐CuO Catalysts for Selective CO2 Electroreduction to Ethylene

Advanced Functional Materials, EarlyView.
The 2D carbon‐supported Gd–CuO exhibits strong interfacial electronic coupling, abundant oxygen vacancies, and highly exposed active sites, enabling efficient CO enrichment and C─C coupling toward selective and durable CO2‐to‐C2H4 conversion. ABSTRACT Copper‐based catalysts are promising for electrochemical CO2 reduction toward value‐added chemicals ...
Xueya Zhu, Binghao Shen, Mengshan Chen, Yue Hu, Ruijie Xia, Senwei Ji, Zhi Teng, Donglin Xie, Shunli Li, Xue Zhao, Hermenegildo Garciad, Yingtang Zhou   +11 more
wiley   +1 more source

The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome

Clinical Epigenetics, 2017
Background Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder frequently associated with heterozygous loss-of-function mutations of Nipped-B-like (NIPBL), the human homolog of Drosophila Nipped-B. NIPBL loads cohesin onto chromatin.
Daniel A. Newkirk, Yen-Yun Chen, Richard Chien, Weihua Zeng, Jacob Biesinger, Ebony Flowers, Shimako Kawauchi, Rosaysela Santos, Anne L. Calof, Arthur D. Lander, Xiaohui Xie, Kyoko Yokomori   +11 more
doaj   +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

Oxygen Evolution Electrocatalysts with Trinuclear, Mixed‐Valence Iron Motifs on Electronically Aligned Carbon Dots

Advanced Functional Materials, EarlyView.
Trinuclear iron oxo‐bridged catalytic ensembles stabilized by aspartic‐acid‐derived carbon dots provide an effective platform for alkaline oxygen evolution. Mixed‐valence charge balancing, inner‐sphere charge transport, and work‐function alignment within the N/O‐rich carbon framework promote cooperative Fe‐site chemistry and efficient OER ...
Megha A. Deshmukh, Giorgio Zoppellaro, Emiliano Fonda, Lukáš Zdražil, Shounik Paul, David Panáček, Hanuman Thorat, Zdeněk Badura, Michele Melchionna, Manuela Bevilacqua, Paolo Fornasiero, Klaus Müllen, Radek Zbořil, Aristides Bakandritsos   +13 more
wiley   +1 more source