Supravalvular pulmonary stenosis: A risk factor for reintervention in Noonan syndrome with pulmonary valve stenosis
Sign Up to like & getrecommendations! Published in 2022 at "Catheterization and Cardiovascular Interventions"
DOI: 10.1002/ccd.30148
Abstract: To assess the short‐ and long‐term outcomes of balloon pulmonary valvuloplasty (BPV) in children with Noonan syndrome (NS). read more here.
Keywords: risk factor; noonan syndrome; stenosis risk; supravalvular pulmonary ... See more keywords
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24493
Abstract: Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal expansion and disproportionate variant sperm production leading to unexpectedly high transmission rates for some human genetic conditions. To measure the frequency and spatial distribution of… read more here.
Keywords: hgnc 9644; ptpn11 hgnc; germline; germline selection ... See more keywords
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes
Sign Up to like & getrecommendations! Published in 2018 at "Human Genetics"
DOI: 10.1007/s00439-018-1951-7
Abstract: RASopathies are a group of developmental disorders caused by mutations in genes that regulate the RAS/MAPK pathway and include Noonan syndrome (NS), Costello syndrome, cardiofaciocutaneous syndrome and other related disorders. Whole exome sequencing studies recently… read more here.
Keywords: raf1 ppp1cb; noonan syndrome; mutation positive; ppp1cb ... See more keywords
Personality and Psychopathology in Adults with Noonan Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Psychology in Medical Settings"
DOI: 10.1007/s10880-019-09659-7
Abstract: This is the first controlled study regarding personality and psychopathology in adults with Noonan syndrome (NS). Anxiety, depression, alexithymia and symptoms of Attention Deficit-Hyperactivity Disorder and Autism Spectrum Disorder, have been previously described in NS.… read more here.
Keywords: personality psychopathology; noonan syndrome; psychopathology adults; personality ... See more keywords
Atypical late diagnosis of Noonan syndrome revealed by bleedings due to platelet dysfunction
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Thrombosis and Thrombolysis"
DOI: 10.1007/s11239-021-02547-8
Abstract: Platelets play a crucial role in primary haemostasis as they adhere at the site of vascular breachs, aggregate and initiate clot formation [1]. Inherited platelet function disorders (IPFD) comprise a rare and heterogeneous group of… read more here.
Keywords: noonan syndrome; diagnosis; platelet dysfunction; platelet ... See more keywords
Noonan Syndrome With Multiple Lentigines: Subtle Key Skin Clues to the Diagnosis.
Sign Up to like & getrecommendations! Published in 2021 at "Actas dermo-sifiliograficas"
DOI: 10.1016/j.ad.2019.07.024
Abstract: A 15-year-old woman was evaluated for generalized redness and roughness of the skin that had been present since childhood. She had congenital pulmonary valve stenosis, incomplete pyeloureteral duplication of the right kidney, and learning difficulties.… read more here.
Keywords: noonan syndrome; multiple lentigines; lentigines subtle; syndrome multiple ... See more keywords
Noonan syndrome: genetic and clinical update and treatment options
Sign Up to like & getrecommendations! Published in 2020 at "Anales De Pediatria"
DOI: 10.1016/j.anpede.2020.04.009
Abstract: Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD… read more here.
Keywords: noonan syndrome; syndrome genetic; treatment; clinical update ... See more keywords
[Noonan syndrome: genetic and clinical update and treatment options].
Sign Up to like & getrecommendations! Published in 2020 at "Anales de pediatria"
DOI: 10.1016/j.anpedi.2020.04.008
Abstract: Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD… read more here.
Keywords: noonan syndrome; syndrome genetic; treatment; clinical update ... See more keywords
Spinal cord glioblastoma multiforme in a patient with Noonan syndrome: A clinical report
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2021.106725
Abstract: INTRODUCTION Currently, there are only 3 reported cases of central nervous system malignancies in patients with Noonan syndrome in the literature, all of which are intracranial pathologies. To our knowledge, there are no cases of… read more here.
Keywords: noonan syndrome; cord; glioblastoma multiforme; cord glioblastoma ... See more keywords
Central xanthoma of the jaw in association with Noonan syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Human pathology"
DOI: 10.1016/j.humpath.2018.04.020
Abstract: Xanthomas are histiocytic lesions of the skin, soft tissue, and bone and are generally considered to be reactive in nature. When they arise in the bones of the jaw, they are referred to as central… read more here.
Keywords: jaw association; noonan syndrome; xanthoma jaw; central xanthoma ... See more keywords
Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome
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DOI: 10.1016/j.isci.2021.103596
Abstract: Summary Childhood-onset myocardial hypertrophy and cardiomyopathic changes are associated with significant morbidity and mortality in early life, particularly in patients with Noonan syndrome, a multisystemic genetic disorder caused by autosomal dominant mutations in genes of… read more here.
Keywords: cycle defects; associated noonan; cell cycle; childhood onset ... See more keywords