Results 21 to 30 of about 264 (130)
A Patient With LEOPARD Syndrome and PTPN11 Mutation [PDF]
Circulation, 2009 We present the case of a 37-year-old woman with hypertrophic cardiomyopathy, initially diagnosed at 23 years of age. The leading clinical problem is chest pain and inappropriate shortness of breath under exertion. When the patient was presented to our outpatient clinic for the first time at the age of 34 years, the coincidence of multiple lentigines ...
Lorenz H. Lehmann +6 more
openaire +1 more source
International Journal of Cancer, 2020 In humans, histiocytic sarcoma (HS) is an aggressive cancer involving histiocytes. Its rarity and heterogeneity explain that treatment remains a challenge. Sharing high clinical and histopathological similarities with human HS, the canine HS is conversely frequent in specific breeds and thus constitutes a unique spontaneous model for human HS to ...
Hedan, Benoit +23 more
openaire +4 more sources
Egyptian Journal of Medical Human Genetics, 2020 Background Noonan syndrome (NS) is one of the most common RASopathies, with an autosomal dominant inheritance. This disorder is caused by a range of genes belonging to the RAS-MAP kinase (rat sarcoma viral oncogene homolog/mitogen-activated protein ...
Ihssane El Bouchikhi +9 more
doaj +1 more source
Cancer Control, 2023 Introduction Neuroblastoma (NB) is one of the children’s most common solid tumors, accounting for approximately 8% of pediatric malignancies and 15% of childhood cancer deaths.
Lan Sun MD-PhD +7 more
doaj +1 more source
Cell Reports, 2015 Somatic PTPN11 mutations cause juvenile myelomonocytic leukemia (JMML). Germline PTPN11 defects cause Noonan syndrome (NS), and specific inherited mutations cause NS/JMML.
Sonia Mulero-Navarro +27 more
doaj +1 more source
Clinical significance of RAS pathway alterations in pediatric acute myeloid leukemia
Haematologica, 2021 RAS pathway alterations have been implicated in the pathogenesis of various hematological malignancies. However, their clinical relevance in pediatric acute myeloid leukemia (AML) is not well characterized.
Taeko Kaburagi +20 more
doaj +1 more source
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome [PDF]
Korean Journal of Pediatrics, 2019 Purpose To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations. Methods Twenty-three patients with prepubertal NS treated at Pusan National University Children’
Kyo Jin Jo +7 more
doaj +1 more source
SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. [PDF]
PLoS Genetics, 2014 Loss of PTPN11/SHP2 in mice or in human metachondromatosis (MC) patients causes benign cartilage tumors on the bone surface (exostoses) and within bones (enchondromas). To elucidate the mechanisms underlying cartilage tumor formation, we investigated the
Margot E Bowen +4 more
doaj +1 more source
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
BMC Medical Genetics, 2020 Background Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway.
Jeevana Praharsha Athota +7 more
doaj +1 more source
A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome
Case Reports in Neurological Medicine, 2019 Noonan syndrome (NS) is an autosomal dominant disorder in some cases caused by PTPN11 mutations. Since somatic mutations in PTPN11 are seen in several tumor types, NS which causes germline PTPN11 mutations are also increase the risk of hematologic ...
Boonchai Boonyawat +2 more
doaj +1 more source