Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1217
Abstract: The objective of this study was to investigate the genetic causes of two probands diagnosed as Waardenburg syndrome (WS type I and IV) from two unrelated Chinese families. read more here.
Keywords: pax3 sox10; novel mutations; mutations pax3; waardenburg syndrome ... See more keywords
Genetic causes of neonatal and infantile hypercalcaemia
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Nephrology"
DOI: 10.1007/s00467-021-05082-z
Abstract: The causes of hypercalcaemia in the neonate and infant are varied, and often distinct from those in older children and adults. Hypercalcaemia presents clinically with a range of symptoms including failure to thrive, poor feeding,… read more here.
Keywords: infantile hypercalcaemia; serum; calcium; genetic causes ... See more keywords
Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach
Sign Up to like & getrecommendations! Published in 2020 at "World Journal of Pediatrics"
DOI: 10.1007/s12519-020-00370-4
Abstract: Backgound Bartter’s syndrome (BS) is a rare group of salt losing tubulopathies due to the impairment of transport mechanisms at the thick ascending limb of the Henle’s loop. Data sources Literature reviews and original research… read more here.
Keywords: findings genetic; bartter syndrome; clinical findings; genetic causes ... See more keywords
New genetic causes for complex hereditary spastic paraplegia
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.06.019
Abstract: INTRODUCTION Hereditary Spastic Paraplegia (HSP) represents a complex and heterogeneous group of rare neurodegenerative disorders that share a common clinical feature of weakness and lower limb spasticity that can occur alone or in combination with… read more here.
Keywords: new genetic; hereditary spastic; spastic paraplegia; genetic causes ... See more keywords
Genetic Causes and Genomic Consequences of Breakdown of Distyly in Linum trigynum
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Biology and Evolution"
DOI: 10.1093/molbev/msae087
Abstract: Distyly is an iconic floral polymorphism governed by a supergene, which promotes efficient pollen transfer and outcrossing through reciprocal differences in the position of sexual organs in flowers, often coupled with heteromorphic self-incompatibility (SI). Distyly… read more here.
Keywords: genetic causes; trigynum; linum; genomic consequences ... See more keywords
Genetic causes and clinical management of pediatric interstitial lung diseases
Sign Up to like & getrecommendations! Published in 2018 at "Current Opinion in Pulmonary Medicine"
DOI: 10.1097/mcp.0000000000000471
Abstract: Purpose of review Interstitial lung disease (ILD) in children (chILD) is an umbrella term for a heterogeneous group of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. The pathogenesis… read more here.
Keywords: causes clinical; child; management; interstitial lung ... See more keywords
Syndromic genetic causes of pulmonary fibrosis
Sign Up to like & getrecommendations! Published in 2024 at "Current Opinion in Pulmonary Medicine"
DOI: 10.1097/mcp.0000000000001088
Abstract: Purpose of review The identification of extra-pulmonary symptoms plays a crucial role in diagnosing interstitial lung disease (ILD). These symptoms not only indicate autoimmune diseases but also hint at potential genetic disorders, suggesting a potential… read more here.
Keywords: genetic causes; fibrosis; causes pulmonary; syndromic genetic ... See more keywords
Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases
Sign Up to like & getrecommendations! Published in 2017 at "Current Opinion in Pediatrics"
DOI: 10.1097/mop.0000000000000537
Abstract: Purpose of review In this chapter we will discuss the most recent and relevant evidences published in the field of inherited arrhythmogenic disorders, focusing on the so called ‘channelopathies’ that are associated with sudden cardiac… read more here.
Keywords: causes sudden; sudden cardiac; inherited arrhythmogenic; genetic causes ... See more keywords
Morphological and genetic causes of fetal cardiomyopathies
Sign Up to like & getrecommendations! Published in 2023 at "Clinical Genetics"
DOI: 10.1111/cge.14333
Abstract: Cardiomyopathies are diseases of the heart muscle with variable clinical expressivity. Most of forms are inherited as dominant trait, and with incomplete penetrance until adulthood. Severe forms of cardiomyopathies were observed during the antenatal period… read more here.
Keywords: morphological genetic; fetal cardiomyopathies; causes fetal; genetic causes ... See more keywords
Genetic causes of optic nerve hypoplasia
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2017-104626
Abstract: Optic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the… read more here.
Keywords: nerve hypoplasia; optic nerve; genetic causes; nerve ... See more keywords
On the Hunt for the Missed Genetic Causes of Multiple Primary Tumors.
Sign Up to like & getrecommendations! Published in 2024 at "Cancer prevention research"
DOI: 10.1158/1940-6207.capr-24-0115
Abstract: Improved cancer screening and treatment programs have led to an increased survivorship of patients with cancer, but consequently also to the rise in number of individuals with multiple primary tumors (MPT). Germline testing is the… read more here.
Keywords: hunt missed; multiple primary; genetic causes; primary tumors ... See more keywords