Results 41 to 50 of about 7,783 (160)
Costello Syndrome. A case report
Medisur, 2014 Costello syndrome is an extremely rare multisystem congenital disorder; only about 250 cases have been described in the literature. Its inheritance pattern is considered to be autosomal dominant, although most cases are sporadic, suggesting de novo ...
Yadelis Maldonado Martínez +2 more
doaj +2 more sources
Clinical Genetics, EarlyView.Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
Bioengineering, 2023 Perceptual and statistical evidence has highlighted voice characteristics of individuals affected by genetic syndromes that differ from those of normophonic subjects.
Federico Calà +7 more
doaj +1 more source
Pulmonary infiltrates in Costello Syndrome [PDF]
European Respiratory Journal, 2004 This paper reports on a patient with diffuse pulmonary infiltrates directly related to Costello Syndrome.This congenital disorder is characterised by multiple congenital abnormalities, such as psychomotor retardation, short stature, redundant skin, papillomata, curly hair, relative macroencephaly, distinctive face and various defects of internal organs.
N, Waldburg +4 more
openaire +2 more sources
Journal of Child Psychology and Psychiatry, Volume 66, Issue 4, Page 516-546, April 2025.Proliferation of the term “emotion dysregulation” in child psychopathology parallels the growing interest in processes that influence negative emotional reactivity. While it commonly refers to a clinical phenotype where intense anger leads to behavioral dyscontrol, the term implies etiology because anything that is dysregulated requires an impaired ...
Joseph C. Blader +2 more
wiley +1 more source
Journal of Clinical Nursing, EarlyView.ABSTRACT Background Chronic obstructive pulmonary disease is a progressive respiratory condition associated with significant morbidity and long‐term treatment requirements. Disease management is influenced not only by clinical factors but also by psychosocial determinants such as perceived social support, frailty, and medication adherence.
N. Özdemir
wiley +1 more source
Síndrome de Noonan: actualización genética, clínica y de opciones terapéuticas
Anales de Pediatría, 2020 Resumen: El síndrome de Noonan (SN) es una enfermedad de origen genético relativamente frecuente cuyas manifestaciones fundamentales son la talla baja, la cardiopatía congénita y un fenotipo facial característico.La causa del síndrome de Noonan y de ...
Atilano Carcavilla +9 more
doaj +1 more source
The impact of RASopathy-associated mutations on CNS development in mice and humans
Molecular Brain, 2019 The RAS signaling pathway is involved in the regulation of developmental processes, including cell growth, proliferation, and differentiation, in the central nervous system (CNS).
Minkyung Kang, Yong-Seok Lee
doaj +1 more source
Passive heat intervention research in women: Systematic review and audit of female representation
Experimental Physiology, EarlyView.Abstract Passive heat interventions (PHIs) are non‐exercise heat‐acclimation strategies that improve physiological markers associated with heat tolerance and reduce vulnerability to heat‐related illness, when exercise is not feasible. However, representation of female participants within this literature remains unclear.
Jessica A. Mee +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2151-2156, September 2026.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source