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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
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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
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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
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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
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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
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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
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Analysis of Gene-Environment Interactions Related to Developmental Disorders

Frontiers in Pharmacology, 2022
Various genetic and environmental factors are associated with developmental disorders (DDs). It has been suggested that interaction between genetic and environmental factors (G × E) is involved in the etiology of DDs.
Yuhei Nishimura, Kenji Kurosawa, Kenji Kurosawa   +2 more
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The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases

罕见病研究, 2023
Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients.
LI Guozhuang, XU Kexin, WU Zhihong, ZHANG Jianguo, QIU Guixing, WU Nan   +5 more
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A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration

Molecular Genetics & Genomic Medicine, 2021
Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12.
Stuart Fraser, Mary Koenig, Laura Farach, Pedro Mancias, Kate Mowrey   +4 more
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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
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