Tools
Sorted by:
Try your query at:
 |
 |
 |
 |
 |
 |
Results 1 - 10
of
1,742
Current insights into inherited bone marrow failure syndromes
, 2014
"... Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often have substantial phenotype overlap, and therefore, genotyping ..."
Abstract
- Add to MetaCart
Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often have substantial phenotype overlap, and therefore, genotyping
Diagnosis, Genetics, and Management of Inherited Bone Marrow Failure Syndromes
"... The inherited bone marrow failure syndromes are traditionally considered to be pediatric disorders, but in fact, many of the patients now are diagnosed as adults, and many diagnosed as children now live to reach adulthood. The most common of these rare disorders include Fanconi anemia, dyskeratosis ..."
Abstract
-
Cited by 1 (0 self)
- Add to MetaCart
The inherited bone marrow failure syndromes are traditionally considered to be pediatric disorders, but in fact, many of the patients now are diagnosed as adults, and many diagnosed as children now live to reach adulthood. The most common of these rare disorders include Fanconi anemia, dyskeratosis
development and progression of clonal and malignant myeloid transformation in
"... inherited bone marrow failure syndromes ..."
Inherited bone marrow failure syndromes: molecular features. Hematology Am Soc Hematol Educ Program
"... The inherited marrow failure syndromes are characterized by impaired hematopoiesis and cancer predisposition. Most inherited marrow failure syndromes are also associated with a range of congenital anomalies. These rare diseases offer important insights into general mechanisms governing human develop ..."
Abstract
-
Cited by 2 (1 self)
- Add to MetaCart
The inherited marrow failure syndromes are characterized by impaired hematopoiesis and cancer predisposition. Most inherited marrow failure syndromes are also associated with a range of congenital anomalies. These rare diseases offer important insights into general mechanisms governing human
CLINICAL TRIALS AND OBSERVATIONS Cancer in dyskeratosis congenita
"... Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome. The spectrum of cancer susceptibility in this disorder of telomere biology has not been described. There were more than 500 cases of DC reported in the literature ..."
Abstract
- Add to MetaCart
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome. The spectrum of cancer susceptibility in this disorder of telomere biology has not been described. There were more than 500 cases of DC reported in the literature
Picture Story A female with dyskeratosis congenita
"... Dyskeratosis congenita is an inherited bone marrow failure syndrome, with multisystem involvement. Incidence is approximately 1 case per million population. 225 individuals have been reported in the ..."
Abstract
- Add to MetaCart
Dyskeratosis congenita is an inherited bone marrow failure syndrome, with multisystem involvement. Incidence is approximately 1 case per million population. 225 individuals have been reported in the
96 American Society of Hematology Bone Marrow Failure: A Child Is Not Just a Small Adult (But an Adult Can Have a Childhood Disease)
"... Aplastic anemia may be inherited or acquired. The distinction between these lies not in the age of the patient, but in the clinical and laboratory diagnoses. Adult hematologists must consider adult presenta-tions of the inherited disorders, in order to avoid incorrect management of their patients. P ..."
Abstract
- Add to MetaCart
. Physicians for adult patients must also realize that children with inherited disorders now survive to transition into their care. The major inherited bone marrow failure syn-dromes associated with development of pancytopenia include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome
Bone Marrow Failure as a Risk Factor for Clonal Evolution: Prospects for Leukemia Prevention
"... Patients with bone marrow failure syndromes are at risk for the development of clonal neoplasms, including paroxysmal nocturnal hemoglobinuria (PNH), myelodysplasia (MDS), and acute myelogenous leukemia (AML). Approximately 10 % to 20 % of those who survive acquired aplastic anemia will develop a cl ..."
Abstract
-
Cited by 1 (0 self)
- Add to MetaCart
clonal disease within the decade following their diagnosis. The relative risk of clonal neoplasms is very significantly increased in children and adults with inherited bone marrow failure syndromes as well. Until recently, the mechanisms underlying clonal evolution have been opaque, but a sufficient
Dyskeratosis congenita
- FEBS Letters
, 2010
"... Dyskeratosis congenita (DC) was originally defined as a rare inherited bone marrow failure syndrome associated with distinct mucocutaneous features. Today DC is defined by its pathogenetic mechanism and mutations in components of the telomere maintenance machinery resulting in excessively short telo ..."
Abstract
-
Cited by 1 (0 self)
- Add to MetaCart
Dyskeratosis congenita (DC) was originally defined as a rare inherited bone marrow failure syndrome associated with distinct mucocutaneous features. Today DC is defined by its pathogenetic mechanism and mutations in components of the telomere maintenance machinery resulting in excessively short
protein synthesis?
"... ABSTRACT The inherited bone marrow failure syndromes are clinically distinct but share some common features. Difficult to treat and typified by a poor prognosis, their pathogenesis is unknown. Recent findings that some patients with the erythroblastopenia Diamond-Blackfan anemia (DBA) have mutations ..."
Abstract
- Add to MetaCart
ABSTRACT The inherited bone marrow failure syndromes are clinically distinct but share some common features. Difficult to treat and typified by a poor prognosis, their pathogenesis is unknown. Recent findings that some patients with the erythroblastopenia Diamond-Blackfan anemia (DBA) have
Results 1 - 10
of
1,742
