Results 1 to 10 of about 1,217,808 (321)

Emerging Role of Clinical Genetics in CKD [PDF]

Kidney Medicine, 2022
Chronic kidney disease (CKD) afflicts 15% of adults in the United States, of whom 25% have a family history. Genetic testing is supportive in identifying and possibly confirming diagnoses of CKD, thereby guiding care.
Prasad Devarajan, Glenn M. Chertow, Katalin Susztak, Adeera Levin, Rajiv Agarwal, Peter Stenvinkel, Arlene B. Chapman, Bradley A. Warady   +7 more
doaj   +2 more sources

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

Frontiers in Genetics, 2022
Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington, Amelle Shillington, Amelle Shillington, Martine Lamy, Martine Lamy, Kelli C. Dominick, Kelli C. Dominick, Michael Sorter, Michael Sorter, Craig A. Erickson, Craig A. Erickson, Robert Hopkin, Robert Hopkin   +12 more
doaj   +2 more sources

Pitfalls in clinical genetics [PDF]

Singapore Medical Journal, 2023
With the increasing availability of genetic tests, more doctors are offering and ordering such tests for their patients. Ordering a genetic test appears to be a simple process of filling in paperwork, drawing 3 mL of blood in an ...
Hui-Lin Chin, Denise Li Meng Goh
doaj   +2 more sources

Clinical mitochondrial genetics

Journal of Medical Genetics, 1999
The last decade has been an age of enlightenment as far as mitochondrial pathology is concerned. Well established nuclear genetic diseases, such as Friedreich’s ataxia,1 2 Wilson disease,3 and autosomal recessive hereditary spastic paraplegia,4 have been shown to have a mitochondrial basis, and we are just starting to unravel the ...
P F, Chinnery, N, Howell, R M, Andrews, D M, Turnbull   +3 more
openaire   +4 more sources

Medical care in clinical genetics: an experience of decentralization in southern Brazil. [PDF]

Einstein (Sao Paulo), 2021
Meneghini KFD, Karam SM, Madruga VFP, Ungaretti ASS, Pinguello EC, Severo R.   +5 more
europepmc   +3 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