Results 11 to 20 of about 10,250,216 (364)

A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia. [PDF]

Transl Pediatr
Ueda M.
europepmc   +2 more sources

Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly

Frontiers in Genetics, 2022
Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large joint contracture, and kyphoscoliosis. The nature course of CCA has not been well-
Liying Sun, Yingzhao Huang, Yingzhao Huang, Yingzhao Huang, Sen Zhao, Sen Zhao, Sen Zhao, Wenyao Zhong, Jile Shi, Jile Shi, Jile Shi, Yang Guo, Junhui Zhao, Ge Xiong, Yuehan Yin, Zefu Chen, Zefu Chen, Zefu Chen, Nan Zhang, Zongxuan Zhao, Qingyang Li, Dan Chen, Yuchen Niu, Yuchen Niu, Xiaoxin Li, Xiaoxin Li, Guixing Qiu, Guixing Qiu, Guixing Qiu, Zhihong Wu, Zhihong Wu, Zhihong Wu, Terry Jianguo Zhang, Terry Jianguo Zhang, Terry Jianguo Zhang, Wen Tian, Nan Wu, Nan Wu, Nan Wu   +38 more
doaj   +1 more source

Executive Function and Working Memory Deficits in Females with Fragile X Premutation

Life, 2023
The Fragile X premutation is a genetic instability of the FMR1 gene caused by 55–199 recurrences of the CGG sequence, whereas there are only 7–54 repeats of the CGG sequence in the normal condition.
Osnat Segal, Tamar Kowal, Yonit Banet-Levi, Lidia V. Gabis   +3 more
doaj   +1 more source

Case of Congenital Hemolytic Anemia with ATP11C and ANK1 Variants

Children, 2023
A male infant of Han descent, with a G1P1 mother and gestational age of 40+4 weeks, was born via cesarean section owing to his mother having pregnancy complications, including premature rupture of membranes, chorioamnionitis, and gestational diabetes. On
Wei Xu, Mengmeng Ma, Sai Zhao, Yufang Yuan, Zhaofang Tian   +4 more
doaj   +1 more source

A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies

Molecular Genetics & Genomic Medicine, 2021
Background Unbalanced translocations between the q arm of chromosomes 5 and 13 are exceedingly rare and there is only one reported case with distal trisomy 5q/monosomy 13q. In this report, we describe a second patient with a similar rearrangement arising
Alyssa C. M. Joynt, Ashish R. Deshwar, Jessica Zon, Lucie Dupuis, Diane K. Wherrett, Roberto Mendoza‐Londono   +5 more
doaj   +1 more source

Trans-ethnic variation in germline variants of patients with renal cell carcinoma

Cell Reports, 2021
Summary: Prior studies of the renal cell carcinoma (RCC) germline landscape investigated predominantly patients of European ancestry. We examine the frequency of germline pathogenic and likely pathogenic (P/LP) variants in 1,829 patients with RCC from ...
Sarah Abou Alaiwi, Amin H. Nassar, Elio Adib, Stefan M. Groha, Elie W. Akl, Bradley A. McGregor, Edward D. Esplin, Shan Yang, Kathryn Hatchell, Vincent Fusaro, Sarah Nielsen, David J. Kwiatkowski, Guru P. Sonpavde, Mark Pomerantz, Judy E. Garber, Matthew L. Freedman, Huma Q. Rana, Alexander Gusev, Toni K. Choueiri   +18 more
doaj   +1 more source

The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases

Medicina, 2023
Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from ...
Styliani-Aggeliki Sintila, Marina Boziki, Christos Bakirtzis, Thomai Stardeli, Nikoletta Smyrni, Ioannis Nikolaidis, Dimitrios Parissis, Theodora Afrantou, Theodore Karapanayiotides, Ioanna Koutroulou, Virginia Giantzi, Paschalis Theotokis, Evangelia Kesidou, Georgia Xiromerisiou, Efthimios Dardiotis, Panagiotis Ioannidis, Nikolaos Grigoriadis   +16 more
doaj   +1 more source

Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics

Journal of Clinical Medicine, 2020
Clinical genetics has an important role in the healthcare system to provide a definitive diagnosis for many rare syndromes. It also can have an influence over genetics prevention, disease prognosis and assisting the selection of the best options of care ...
R. Pereira, J. Oliveira, M. Sousa
semanticscholar   +1 more source

Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature

Frontiers in Genetics, 2021
Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies.
Ruizhi Deng, Melysia T. McCalman, Thomas P. Bossuyt, Tahsin Stefan Barakat   +3 more
doaj   +1 more source

Bringing genetics into primary care: findings from a national evaluation of pilots in England [PDF]

, 2009
Objectives: Developments in genetic knowledge and clinical applications are seen as rendering traditional modes of organizing genetics provision increasingly inappropriate.
Checkland K, Currie G, Eisenhardt KM, Graeme Currie, Graham Martin, Martin GP, Paton C, Rachael Finn, Secretary of State for Health.   +8 more
core   +1 more source