Results 11 to 20 of about 7,783 (160)
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature [PDF]
Case Reports in Genetics, 2017 Costello syndrome is caused by heterozygous de novo missense mutations in the protooncogene HRAS with tumor predisposition, especially rhabdomyosarcoma. We here report two pediatric patients with Costello syndrome and umbilical ligament rhabdomyosarcoma.
Carlos Sánchez-Montenegro +7 more
doaj +2 more sources
Anais Brasileiros de Dermatologia, 2014 Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal ...
Isy Lima Peixoto +5 more
doaj +2 more sources
Parkinsonism and Related Disorders, 2012 Costello Syndrome is a rare multiple congenital anomaly disorder caused by de novo heterozygous mutations in the v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS) gene. Recent studies seem to support apparent autosomal dominant inheritance and somatic mosaicism and an association with advanced parental age.
Federico Ranieri +2 more
exaly +6 more sources
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models [PDF]
The Journal of Clinical Investigation, 2022 Germline mutations that activate genes in the canonical RAS/MAPK signaling pathway are responsible for rare human developmental disorders known as RASopathies.
Laetitia Dard +22 more
doaj +2 more sources
The Surgical Management of Severe Scoliosis in Immature Patient with a Very Rare Disease Costello Syndrome—Clinical Example and Brief Literature Review [PDF]
LifeBackground: Costello syndrome (CS) is a rare genetic syndrome in which, due to the occurrence of a mutation in the HRAS gene on chromosome 11 that causes the manifestation, a set of features such as a characteristic appearance, many congenital defects ...
Pawel Grabala +4 more
doaj +2 more sources
Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype [PDF]
Orphanet Journal of Rare DiseasesBackground Costello syndrome (CS) is a rare genetic disorder within the spectrum of RASopathies, caused by activating mutations in the HRAS gene, leading to constitutive dysregulation of the RAS/MAPK signalling pathway.
Chiara Leoni +21 more
doaj +2 more sources
Anaesthetic Management in Costello Syndrome. [PDF]
Turk J Anaesthesiol Reanim, 2015 Costello syndrome is a rare genetic disorder characterised by growth and mental retardation, macrocephaly, short neck and macroglossia. Cardiac involvement can also occur in Costello syndrome and is presented in the form of hypertrophic cardiomyopathy, tachyarrythmias and valvular dysfunction.
Akçıl EF, Dilmen ÖK, Tunalı Y.
europepmc +5 more sources
Costello Syndrome: The Challenge of Hypoglycemia and Failure to Thrive [PDF]
EBioMedicine, 2018 C. Leoni, E. Flex
doaj +2 more sources
Neuromodulation: Technology at the Neural Interface, EarlyView., 2021 Abstract Objectives Theta burst stimulation (TBS) is often used in clinical practice and research protocols for adults with neuropsychiatric disorders. There are substantial knowledge gaps related to the application of TBS in children and adolescents.
Rana Elmaghraby +5 more
wiley +1 more source
Journal of Clinical & Biomedical Research, 2022 Costello syndrome is a rare RASopathy resulting from germline mutations of the protooncogene HRAS. Many of these mutations affect SHP2, SOS1, RAS, RAF and MEK proteins it was discovered by Dr. Jack Costello, a New Zealand paediatrician in 1977. Dr. White says.
Subhan Iqbal +2 more
openaire +2 more sources