Results 51 to 60 of about 14,972 (184)
Asia-Pacific Journal of Clinical Oncology, EarlyView.We report our single‐center experience of transplant outcomes with a busulfan, fludarabine and melphalan‐based conditioning regimen for children < 18 years of age. The regimen was shown to be well tolerated and effective for heavily pretreated children with high‐risk myeloid malignancies prior to allogeneic hematopoietic stem cell transplant.
Mayank Dhamija +6 more
wiley +1 more source
Acta Obstetricia et Gynecologica Scandinavica, EarlyView.Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao +5 more
wiley +1 more source
British Journal of Haematology, EarlyView.Glomeruloid haemangiomas and extensive angiomas occurred in a small subset of Erdheim–Chester disease patients, all showing markedly elevated vascular endothelial growth factor‐A (VEGF‐A) levels despite the absence of POEMS (polyneuropathy, organomegaly, M‐spike, and skin disease) syndrome.
Jerome Razanamahery +10 more
wiley +1 more source
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
New Treatment Strategy and Future Research Direction for BRAF‐Mutated Cancer
Cancer Science, EarlyView.Treatment with BRAF inhibitor plus MEK inhibitor is currently used in BRAF‐mutated various malignancies except colorectal cancer, and treatments with BRAF and/or MEK inhibitors and anti‐EGFR antibody are used in BRAF‐mutated colorectal cancer. Despite recent advances in BRAF‐targeted therapies, their efficacy is still limited.
Masanobu Takahashi +2 more
wiley +1 more source
Clinical Endocrinology, EarlyView.ABSTRACT Objective This study aimed to evaluate the impact of pathogenic genetic variants on growth outcomes following 3 years of recombinant human growth hormone (rhGH) therapy in children born small for gestational age with persistent short stature (SGA‐SS). Design A retrospective cohort study.
Sanghee Park +15 more
wiley +1 more source
Clinical Genetics, EarlyView.This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska +3 more
wiley +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
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
Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling
Cytopathology, EarlyView.Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu +3 more
wiley +1 more source