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
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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
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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
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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 clinical management of pediatric interstitial lung diseases
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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
Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases
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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
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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
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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
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
Sign Up to like & getrecommendations! Published in 2020 at "Italian Journal of Pediatrics"
DOI: 10.1186/s13052-020-00860-1
Abstract: Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 variants. This disorder presents… read more here.
Keywords: epilepsy; diagnosis; childhood; childhood epilepsy ... See more keywords
Genetic causes and management of male infertility.
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DOI: 10.21037/tau.2020.03.34
Abstract: Infertility affects approximately 15% of couples. With infertility such a common problem in a generally healthy age group, complete evaluation is needed of both men and women. Infertility work up for men includes a semen… read more here.
Keywords: causes management; andrology; infertility; management male ... See more keywords
Editorial: The Genetic Causes Underlying Immune Mediated Disease: A Focus on Autoimmunity and Cancer
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.889160
Abstract: Immune-mediated diseases (IMD) are a complex group of highly disabling chronic entities resulting from the abnormal activity of the immune cells and affect up to 10% of the population worldwide (ElGabalawy et al., 2010; Reale… read more here.
Keywords: immune mediated; autoimmunity; editorial genetic; genetic causes ... See more keywords