Results 51 to 60 of about 2,445,354 (228)
Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy [PDF]
, 2015 Background: Hypertrophic cardiomyopathy (HCM) is a common cardiac disease caused by a range of genetic and acquired disorders. The most common cause is genetic variation in sarcomeric proteins genes.
Rosmini, Stefania <1981>
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Narrowing the wingless-2 mutation to a 227 kb candidate region on chicken chromosome 12. [PDF]
, 2018 Wingless-2 (wg-2) is an autosomal recessive mutation in chicken that results in an embryonic lethal condition. Affected individuals exhibit a multisystem syndrome characterized by absent wings, truncated legs, and craniofacial, kidney, and feather ...
Cheng, HH +7 more
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When RASopathies Collide: A Case Highlighting the Continuum between Noonan and LEOPARD Syndromes
International Journal of Medical StudentsLEOPARD syndrome and Noonan syndrome are clinically overlapping RASopathies, both frequently associated with pathogenic variants in the PTPN11 gene, which encodes the SHP-2 tyrosine phosphatase.
Umesh G +4 more
doaj +1 more source
Рациональная фармакотерапия в кардиологии, 2019 Aim. To study the nosological spectrum in the syndrome of primary left ventricle hypertrophy (PLVH) using morphological and genetic diagnostics and to compare the clinical course of true hypertrophic cardiomyopathy (HCM) and its phenocopy.Material and ...
O. V. Blagova +6 more
doaj +1 more source
Cells, 2020 P0-related protein (PZR), a Noonan and LEOPARD syndrome target, is a member of the transmembrane Immunoglobulin superfamily. Its cytoplasmic tail contains two immune-receptor tyrosine-based inhibitory motifs (ITIMs), implicated in adhesion-dependent ...
Maria G. Roubelakis +5 more
doaj +1 more source
Insight into the pathogenesis and nature of Central giant cell lesions of the jaws [PDF]
, 2015 Central giant cell lesions of the jaws are not uncommon. While the majority of these represent single, sporadic lesions, histologically identical lesions are seen in association with a number of other bone lesions, as well as in certain syndromes. This
Edwards, Paul Charles
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
Annals of Gastroenterological Surgery, Volume 10, Issue 2, Page 325-335, March 2026.ABSTRACT The therapeutic landscape of hepatocellular carcinoma (HCC) has been transformed by recent advancements in systemic therapies, particularly with the introduction of immune checkpoint inhibitors, expanding treatment options beyond conventional locoregional approaches.
Keiichi Akahoshi +4 more
wiley +1 more source
Frontiers in Cardiovascular Medicine, 2023 Noonan syndrome with multiple lentigines (NSML, formerly known as LEOPARD syndrome) is a variant of Noonan syndrome which is an autosomal dominant disorder.
Chon-Hou Chan +7 more
doaj +1 more source
Aquaculture Asia, Vol. 11, No. 4, pp.1-34, October - December 2006 [PDF]
, 2006 Rural aquaculture: recent developments in Chinese inland aquaculture, by Peter Edwards. Reducing feed costs in aquaculture: is the use of mixed feeding schedules the answer for semi-intensive practices? by Sena S.
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