Filtry
A case report of Noonan's syndrome with pulmonary valvar stenosis
Noonan syndrome is a genetic disorder characterised by short stature, typical facial dysmorphology and congenital heart defects. It is clasified in the group failure to thrive is discussed. It was found out that Noonan ...
Cardiac and Cardiovascular systems
- 2022 •
- JSC •
- Odkaz
Rok uplatnění
JSC - Článek v periodiku v databázi SCOPUS
Výsledek na webu
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease...
FD - Onkologie a hematologie
- 2005 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Risks of hemato-oncological diseases in Noonan syndrome
Noonan syndrome is a common hereditary condition with a heterogeneous genetic two typical hematooncological diagnoses associated with Noonan syndrome for the genetic basis of the difficulties with the subsequent co...
Oncology
- 2023 •
- JSC •
- Odkaz
Rok uplatnění
JSC - Článek v periodiku v databázi SCOPUS
Výsledek na webu
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
Noonan syndrome (NS) and related disorders are caused by mutations in various genes encoding molecules involved in the RAS-MAPK signalling cascade....
EB - Genetika a molekulární biologie
- 2009 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Clinical findings and genotypic-phenotypic correlations in Noonan syndrome and other RASopathies
type 1 (NF1, OMIM 162200), Noonan syndrome (NS, OMIM 163950), Noonan syn¬drome with multiple lentigo (NSML, also called as syndrome LEOPARD, OMIM 151100), Noonan-like syndrome or so called Legius...
Human genetics
- 2020 •
- C
Rok uplatnění
C - Kapitola v odborné knize
Noonan syndrom with multiple lentigines and congenital myotonic dystrophy type 1 in a newborn
The paper describes a case study of a rare combination of the two above-mentioned genetic syndromes with familial incidence diagnosed prenatally in a newborn with a complicated perinatal history. The actual case report and the attached photo...
Paediatrics
- 2020 •
- JSC •
- Odkaz
Rok uplatnění
JSC - Článek v periodiku v databázi SCOPUS
Výsledek na webu
Noonan syndrome and other RASopathies: Aetiology, diagnostic procedures and therapy
Noonan syndrome and related conditions are classified as RASopathies due to their shared molecular pathogenesis. They represent frequent developmental syndromes appearance and heart disease in older children. Adults with
Paediatrics
- 2020 •
- JSC •
- Odkaz
Rok uplatnění
JSC - Článek v periodiku v databázi SCOPUS
Výsledek na webu
Noonan syndrome from a paediatric cardiologist's perspective
Noonan syndrome (NS) represents a genetic disorder associated with a high prevalence of cardiovascular disease, especially pulmonary valve stenosis, hypertrophic cardiomyopathy, atrial septal defect, and atrioventricular canal. Thes...
Cardiac and Cardiovascular systems
- 2020 •
- JSC •
- Odkaz
Rok uplatnění
JSC - Článek v periodiku v databázi SCOPUS
Výsledek na webu
Polyarticular Form of Pigmented Villonodular Synovitis. Radiation and Surgical Therapy: Long Term Follow-up
We describe a case of 30-year old male followed-up since the age of 6 for severe type of rare combination of polyarticular form of pigmented villonodular synovitis with hereditary malformation constellation consistent with Noonan-like sy...
FI - Traumatologie a ortopedie
- 2008 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently. This condition is characterized by facial features similar to Noonan<...
EB - Genetika a molekulární biologie
- 2014 •
- Jx •
- Odkaz
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
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