Results 1 to 10 of about 52,819 (289)
The Application of Clinical Genetics
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
doaj +6 more sources
Clinical genetics of melanoma [PDF]
Hereditary Cancer in Clinical Practice, 2012 Malignant melanoma (MM) represents one of the most aggressive neoplasms and its frequency is increasing rapidly. Increased melanoma risk among relatives of MM patients and familial aggregations of this malignancy point at genetic predisposition as an important factor of MM pathogenesis. The genetic basis of MM is complex and appears to involve multiple
Dębniak T
doaj +5 more sources
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 +3 more sources
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 +3 more
doaj +1 more source
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
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 +4 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 +3 more
doaj +1 more source
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
openaire +3 more sources
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
doaj +1 more source