Results 91 to 100 of about 2,214,382 (367)

Changes In angulation and phalangeal length of fingers and thumbs following surgical treatment for congenital clinodactyly [PDF]

, 2016
INTRODUCTION: Congenital clinodactyly is a condition characterized by the deviation of a digit or digits in the coronal plane. Angulation is often due to the presence of a delta phalanx.
Gordon, Alanna Alexandra
core   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

Evaluation of the influence of kyphosis and scoliosis on intervertebral disc extrusion in French bulldogs [PDF]

, 2018
Although thoracic vertebral malformations with kyphosis and scoliosis are often considered incidental findings on diagnostic imaging studies of screw-tailed brachycephalic breeds, they have been suggested to interfere with spinal biomechanics and ...
BA Brisson, CW Dewey, DR Westworth, E Schlensker, E Schlensker, F Wang, Gert ter Haar, GI Hristova, HG Parker, HK Chang, Holger A. Volk, IA Stokes, J Guevar, J Street, K Faller, LA Smolders, LM De Rycke, M Charalambous, MA Stone, Maria Claudia C. M. Inglez de Souza, MP Abdel, MS Mogensen, MS Mogensen, MS Yau, N Bergknut, ND Jeffery, O Epstein, P Bernstein, P Moissonnier, R Gutierrez-Quintana, RC Brink, Richard Ryan, RM Packer, Rowena M. A. Packer, S De Decker, SA Gomes, SD Decker, Steven De Decker, T Aikawa, T Aikawa   +39 more
core   +2 more sources

Genetic Deconvolution of Embryonic and Maternal Cell‐Free DNA in Spent Culture Medium of Human Preimplantation Embryo Through Deep Learning

Advanced Science, EarlyView.
DECENT is a deep learning method that enhances noninvasive preimplantation genetic testing by accurately reconstructing embryonic copy number variations (CNVs) from cell‐free DNA in spent embryo culture media. By mitigating maternal contamination, DECENT improves diagnostic accuracy, even with high contamination levels, offering a reliable, noninvasive
Zhenyi Zhang, Jie Qiao, Yidong Chen, Peijie Zhou   +3 more
wiley   +1 more source

A case report of cornelia de lange syndrome in Northern Iran; a clinical and diagnostic study [PDF]

, 2016
As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects.
Alaee, E., Bazrafshan, B., Hosseininejad, S.-M.   +2 more
core   +1 more source

Post‐Translational Modifications in Cilia and Ciliopathies

Advanced Science, EarlyView.
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley   +1 more source

Clinical features and management of women with Mayer-Rokitansky-Küster-Hauser syndrome in a Thai population [PDF]

Obstetrics & Gynecology Science
Objective This study aimed to describe the clinical features, associated extragenital anomalies, and management of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a Thai population.
Phawat Matemanosak, Krantarat Peeyananjarassri, Satit Klangsin, Saranya Wattanakumtornkul, Kriengsak Dhanaworavibul, Chainarong Choksuchat, Chatpavit Getpook   +6 more
doaj   +1 more source

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. [PDF]

, 2018
Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension.
Campo, Miguel Del, Chowdhury, Shimul, Dimmock, David P, Jones, Marilyn C, Kingsmore, Stephen F, Nahas, Shareef A, RCIGM Investigators, Sweeney, Nathaly M   +7 more
core   +2 more sources

Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine

Advanced Science, EarlyView.
Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang, Feng Gao, Liqun Yu, Haokun Chen, Rongrong Zhu   +4 more
wiley   +1 more source

Role of MDCT in evaluation of congenital and acquired anomalies of pulmonary venous drainage

The Egyptian Journal of Radiology and Nuclear Medicine, 2018
Objective: This work aimed for detection of different congenital and acquired abnormalities affecting the pulmonary veins using multislice computed tomography (MSCT). Patients and methods: This study was carried on 74 patients.
Youssriah Yahia Sabri, Marwa Moawed, Takeya Ahmed Taymour, Sally Foad Tadros   +3 more
doaj