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The Application of Clinical Genetics [PDF]
The Application of Clinical Genetics, 2012 Martin H MaurerDepartment of Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany; Mariaberg Hospital for Child and Adolescent Psychiatry, Gammertingen, GermanyIn 2012, The Application of Clinical Genetics enters its fifth year ...
Maurer MH
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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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Mosaicism in clinical genetics [PDF]
Molecular Case Studies, 2021 Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al.
Mefford HC.
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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 +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 +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 +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 +38 more
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Clinical genetics of craniosynostosis [PDF]
Current Opinion in Pediatrics, 2017 Purpose of review When providing accurate clinical diagnosis and genetic counseling in craniosynostosis, the challenge is heightened by knowledge that etiology in any individual case may be entirely genetic, entirely environmental, or anything in between.
Wilkie, A, Johnson, D, Wall, S
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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 +18 more
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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 +5 more
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