Results 81 to 90 of about 1,064,760 (292)
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction Neuroblastoma (NB) with central nervous system (CNS) metastases is rare at diagnosis, but occurs more often during relapse/progression. Patients with CNS metastases face a dismal prognosis, with no standardized curative treatment available.
Vicente Santa‐Maria Lopez +13 more
wiley +1 more source
Familial Myelodysplastic/Acute Leukemia Syndromes—Myeloid Neoplasms with Germline Predisposition
Frontiers in Oncology, 2017 Although most cases of myeloid neoplasms are sporadic, a small subset has been associated with germline mutations. The 2016 revision of the World Health Organization classification included these cases in a myeloid neoplasm group with a predisposing ...
Renata Lyrio Rafael Baptista +4 more
doaj +1 more source
Liver Transplantation to Provide Low-Density-Lipoprotein Receptors and Lower Plasma Cholesterol in a Child with Homozygous Familial Hypercholesterolemia [PDF]
, 1984 A six-year-old girl with severe hypercholesterolemia and atherosclerosis had two defective genes at the low-density-lipoprotein (LDL) receptor locus, as determined by biochemical studies of cultured fibroblasts.
Cummings +9 more
core +1 more source
“Family – Politics – Globalization” Family intimacy
Forum Teologiczne, 2022 Intimacy is a key component of relational bonds, associated not only with sex but with every aspect of what each member of a family expresses –in the way he or she can do so–. How does it take place? What are the existing approaches towards the family to weigh intimacy? How is intimacy construed, and how can it be widely understood?
openaire +2 more sources
Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma
Pediatric Blood &Cancer, EarlyView.ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack +12 more
wiley +1 more source
MEN1 gene mutation with parathyroid carcinoma: first report of a familial case
Endocrine Connections, 2017 Background: The occurrence of parathyroid carcinoma in multiple endocrine neoplasia type I (MENI) is rare and the 15 cases of malignant parathyroid tumor reported so far have been associated with MENI in individuals and not with multiple members within a
Luigia Cinque +13 more
doaj +1 more source
Familial multiple cavernous malformation syndrome : MR features in this uncommon but silent threat [PDF]
, 2016 Cerebral cavernous malformations (CCM) are vascular malformations in the brain and spinal cord. The familial form of cerebral cavernous malformation (FCCM) is uncommon.
Lemmerling, Marc +2 more
core +3 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background We describe clinical and biologic characteristics of neuroblastoma in older children, adolescents, and young adults (OCAYA); describe survival outcomes in the post‐immunotherapy era; and identify if there is an age cut‐off that best discriminates outcomes.
Rebecca J. Deyell +14 more
wiley +1 more source
Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria
G3: Genes, Genomes, Genetics, 2018 Risk of melanoma is in part determined by genetic factors. Currently the only established high penetrance familial melanoma genes are CDKN2A and CDK4. Recent studies reported germline variants in POT1 in melanoma families.
Christoph Müller +4 more
doaj +1 more source
The expression of tumour suppressors and proto-oncogenes in tissues susceptible to their hereditary cancers. [PDF]
, 2015 BackgroundStudies of familial cancers have found that only a small subset of tissues are affected by inherited mutations in a given tumour suppressor gene (TSG) or proto-oncogene (POG), even though the mutation is present in all tissues.
Muir, Brian, Nunney, Leonard
core