Disease: Thrombocytopenia chromosome breakage
- 'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome
- 5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia
- 77-year old man with dyspnea and acral cyanosis
- A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: an autosomal recessive chromosome instability syndrome?
- A familial deletion of 10p12.1 associated with thrombocytopenia
- Analysis of clinical characteristics and treatment efficacy in two pediatric cases of <em>ANKRD26</em>-related thrombocytopenia
- ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesis
- ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26
- Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome
- Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome
- Correction: Major Bleeding and Risk of Death after Percutaneous Native Kidney Biopsies: A French Nationwide Cohort Study
- Cytogenetic studies in four cases of Fanconi's anemia (author's transl)
- Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome
- Dermal necrosis as cutaneous manifestation of heparin-induced thrombocytopenia II?
- Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q
- Familial thrombocytopenia associated with platelet autoantibodies and chromosome breakage
- Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript
- Fanconi Anemia
- Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene
- Fluorescence in situ hybridization using the subtelomeric 11q probe as a diagnostic tool for congenital thrombocytopenia
- Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly
- Generation of the human induced pluripotent stem cell line (SHAMUi001-A) carrying the heterozygous c.-128G>T mutation in the 5'-UTR of the ANKRD26 gene
- Genetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia
- Heparin-induced thrombocytopenia associated with acute liver graft failure
- Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases
- Inherited Thrombocytopenia Caused by Germline <em>ANKRD26</em> Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome
- Jumping translocation in acute monocytic leukemia (M5b) with alternative breakpoint sites in the long arm of donor chromosome 3
- Maternal gonosomal mosaicism in rare autosomal dominant SLFN14-related thrombocytopenia
- Mild bleeding diathesis in a 62-year-old woman with hereditary thrombocytopenia
- Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
- Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells
- MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder
- Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia
- Risk factors for heparin-induced thrombocytopenia type II in aneurysmal subarachnoid hemorrhage
- Safety and efficacy of jaktinib (a novel JAK inhibitor) in patients with myelofibrosis who are intolerant to ruxolitinib: A single-arm, open-label, phase 2, multicenter study
- Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16)
- The 11q terminal deletion disorder: a prospective study of 110 cases
- The application of single-cell gel electrophoresis to the diagnosis of fanconi anemia
- The prognostic value of p53 mutation in pediatric marrow hypoplasia
- The use of danaparoid to manage coagulopathy in a neurosurgical patient with heparin-induced thrombocytopenia type II and intracerebral haemorrhage
- Thrombocytopenia-absent radius syndrome: a clinical genetic study
- Thrombocytopenia-associated mutations in Ser/Thr kinase MASTL deregulate actin cytoskeletal dynamics in platelets
- Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation
- Thrombosis prophylaxis in critically ill patients
- Vaccine-induced immune thrombotic thrombocytopenia post dose 2 ChAdOx1 nCoV19 vaccination: Less severe but remains a problem
- Wiskott-Aldrich syndrome in a family with Fanconi anemia