Results 221 to 230 of about 409,522 (315)

Signaling Mutations Negate the Favorable Impact of NPM1 Mutations in Older Patients With Newly Diagnosed Acute Myeloid Leukemia Treated With VEN/HMA

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Frameshift mutations in exon 12 of nucleophosmin 1 (NPM1mut) are among the most common mutations in acute myeloid leukemia (AML) and have historically been considered favorable‐risk in the absence of FLT3‐ITD. In the European LeukemiaNet (ELN) 2024 risk‐classification for patients treated with hypomethylating agents plus venetoclax (HMA + VEN),
Fieke W. Hoff   +44 more
wiley   +1 more source

Quizartinib in Combination With FLAG‐IDA for Relapsed or Refractory Acute Myeloid Leukemia (FLAG‐QUIDA): A PETHEMA Phase I‐II Trial

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Quizartinib is a tyrosine kinase inhibitor with single agent activity in patients with relapsed or refractory (R/R) acute myeloid leukemia (AML) and has demonstrated efficacy in first‐line therapy when combined with intensive chemotherapy in both FLT3 ITD‐negative and positive AML.
Teresa Bernal   +29 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

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