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About 390 results

ALLMedicine™ Macrocytosis Center

Research & Reviews  193 results

MYH9-Related Disease - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/myh9/

Feb 17th, 2021 - MYH9-related disease (MYH9-RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., >40% of platelets larger than 3.9 μm in diameter), thrombocytopenia (platelet count ...

Bcor deficiency perturbs erythro-megakaryopoiesis and cooperates with Dnmt3a loss in ac...
https://doi.org/10.1038/s41375-020-01075-3
Leukemia Sportoletti P, Sorcini D et. al.

Nov 7th, 2020 - Recurrent loss-of-function mutations of BCL6 co-repressor (BCOR) gene are found in about 4% of AML patients with normal karyotype and are associated with DNMT3a mutations and poor prognosis. Therefore, new anti-leukemia treatments and mouse models...

ETV6-related thrombocytopenia and platelet dysfunction.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666051
Platelets Di Paola J, Fisher MH

May 14th, 2020 - We and others recently described families with germline heterozygote mutations in ETV6 leading to autosomal dominant highly penetrant thrombocytopenia, red cell macrocytosis and predisposition to leukemia.The bone marrow of affected individuals sh...

Bone Marrow Failure Workup
https://emedicine.medscape.com/article/199003-workup

Dec 10th, 2019 - Approach Considerations Laboratory features of bone marrow failure include a single cytopenia, as in pure red cell aplasia, and amegakaryocytic thrombocytopenic purpura or pancytopenia, as in aplastic anemia. Peripheral blood findings Anemia is co...

Mild macrocytosis in Williams-Beuren syndrome.
https://doi.org/10.1016/j.ejmg.2019.103740
European Journal of Medical Genetics; Yu E, Feinn R et. al.

Aug 16th, 2019 - To evaluate the occurrence and estimate the frequency of macrocytosis in Williams-Beuren syndrome (WBS). Complete blood count (CBC) data from 179 subjects with WBS aged 1-69 were collected, with common parameters assessed for trends. Z-transformed...

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Clinicaltrials.gov  193 results

MYH9-Related Disease - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/myh9/

Feb 17th, 2021 - MYH9-related disease (MYH9-RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., >40% of platelets larger than 3.9 μm in diameter), thrombocytopenia (platelet count ...

Bcor deficiency perturbs erythro-megakaryopoiesis and cooperates with Dnmt3a loss in ac...
https://doi.org/10.1038/s41375-020-01075-3
Leukemia Sportoletti P, Sorcini D et. al.

Nov 7th, 2020 - Recurrent loss-of-function mutations of BCL6 co-repressor (BCOR) gene are found in about 4% of AML patients with normal karyotype and are associated with DNMT3a mutations and poor prognosis. Therefore, new anti-leukemia treatments and mouse models...

ETV6-related thrombocytopenia and platelet dysfunction.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666051
Platelets Di Paola J, Fisher MH

May 14th, 2020 - We and others recently described families with germline heterozygote mutations in ETV6 leading to autosomal dominant highly penetrant thrombocytopenia, red cell macrocytosis and predisposition to leukemia.The bone marrow of affected individuals sh...

Bone Marrow Failure Workup
https://emedicine.medscape.com/article/199003-workup

Dec 10th, 2019 - Approach Considerations Laboratory features of bone marrow failure include a single cytopenia, as in pure red cell aplasia, and amegakaryocytic thrombocytopenic purpura or pancytopenia, as in aplastic anemia. Peripheral blood findings Anemia is co...

Mild macrocytosis in Williams-Beuren syndrome.
https://doi.org/10.1016/j.ejmg.2019.103740
European Journal of Medical Genetics; Yu E, Feinn R et. al.

Aug 16th, 2019 - To evaluate the occurrence and estimate the frequency of macrocytosis in Williams-Beuren syndrome (WBS). Complete blood count (CBC) data from 179 subjects with WBS aged 1-69 were collected, with common parameters assessed for trends. Z-transformed...

see more →

News  4 results

What is causing my patients’ macrocytosis?
https://www.mdedge.com/familymedicine/article/167350/hematology/what-causing-my-patients-macrocytosis/page/0/1
Internal Medicine News;

Jun 5th, 2018 - For this patient, the correct answer would be an abnormal GGT, because chronic moderate to heavy alcohol use can raise GGT levels, as well as MCVs. Dr.

Germline mutations linked to ALL
https://www.mdedge.com/hematology-oncology/article/188040/anemia/germline-mutations-linked-all
HT Staff

Mar 26th, 2015 - Researchers in the lab Photo by Rhoda Baer New research suggests that heritable mutations in the gene ETV6 can predispose people to acute lymphoblastic leukemia (ALL). Somatic mutations in ETV6 have previously been implicated in the development of.

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