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Modern clinical genetics in cardiology.
Heart
January 2025
National Referral Center for Inherited Cardiac Diseases, Cardiology and Genetics Departments, Hôpital de la Pitié-Salpêtrière, Paris, France.
Advances in molecular genetics during the past decades led to seminal discoveries in the genetic basis of cardiovascular diseases, resulting in a new understanding of their pathogenesis, determinants of natural history and more recently paved the way for innovative therapies. A significant gap, however, exists between the rapidly increasing knowledge, especially of cardiovascular Mendelian disorders, and the medical applications in daily practice. This paper will focus on the practical issues the cardiologist may be faced with when suspecting a Mendelian disorder.
View Article and Find Full Text PDFClinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.
J Community Genet
January 2025
Medical Genetics Unit, University Hospital of Parma, Parma, Italy.
In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues.
View Article and Find Full Text PDFRevisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome.
Am J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFGenetic counselling and prenatal diagnosis of a de novo chromosomal 10q11.21q11.23 duplication associated with normal phenotype.
Taiwan J Obstet Gynecol
January 2025
Department of Prenatal Diagnosis, Huangshi Maternity and Children's Health Hospital, Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University, Huangshi, Hubei, PR China. Electronic address:
Prenatal diagnosis and genetic counselling of a rare maternal inherited chromosome 1q21.1q21.2 microduplication with no phenotypic abnormalities.
Taiwan J Obstet Gynecol
January 2025
Department of Obstetrics, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, PR China. Electronic address:
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