Paris-Trousseau Thrombocytopenia Latest Advances

Heterozygous nonsense FLI1 p.Met100∗ variant results in thrombocytopenia and increased erythroid gene expression.

Journal: Research and practice in thrombosis and haemostasis

Published: July 09, 2025

Generation and characterization of human iPSC line SANi011-A from a patient with an inherited platelet disorder carrying the heterozygous FLI1 c.297del variant.

Journal: Stem cell research

Published: May 09, 2025

Jacobsen Syndrome, Paris-Trousseau Syndrome, and Dental Extractions: Case Report, Medical, Dental, and Social Considerations.

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: January 05, 2025

Clinical and neuropsychological characterization of Jacobsen syndrome (del11q).

Journal: Journal of neurodevelopmental disorders

Published: September 25, 2024

Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.

Journal: Taiwanese journal of obstetrics & gynecology

Published: September 10, 2024

Jacobsen syndrome associated with Shone's complex: a case report.

Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

Published: June 12, 2024

Reply to "Jacobsen Syndrome in a Patient with Combined Immunodeficiency, Thrombocytopenia, and Lymphoma".

Journal: Journal of investigational allergology & clinical immunology

Published: April 18, 2023

Jacobsen Syndrome in a Patient with Combined Immunodeficiency, Thrombocytopenia, and Lymphoma.

Journal: Journal of investigational allergology & clinical immunology

Published: April 18, 2023

Hematological abnormalities in Jacobsen syndrome: cytopenia of varying severities and morphological abnormalities in peripheral blood and bone marrow.

Journal: Haematologica

Published: January 04, 2023

Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome.

Journal: Journal of genetics

Published: September 26, 2022

Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction.

Journal: Circulation research

Published: July 27, 2022

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome.

Journal: Frontiers in immunology

Published: January 31, 2022

Paris-Trousseau Thrombocytopenia Latest Advances

Find the Latest Research About Paris-Trousseau Thrombocytopenia

Heterozygous nonsense FLI1 p.Met100∗ variant results in thrombocytopenia and increased erythroid gene expression.

Heterozygous nonsense FLI1 p.Met100∗ variant results in thrombocytopenia and increased erythroid gene expression.

Generation and characterization of human iPSC line SANi011-A from a patient with an inherited platelet disorder carrying the heterozygous FLI1 c.297del variant.

Generation and characterization of human iPSC line SANi011-A from a patient with an inherited platelet disorder carrying the heterozygous FLI1 c.297del variant.

Jacobsen Syndrome, Paris-Trousseau Syndrome, and Dental Extractions: Case Report, Medical, Dental, and Social Considerations.

Jacobsen Syndrome, Paris-Trousseau Syndrome, and Dental Extractions: Case Report, Medical, Dental, and Social Considerations.

Clinical and neuropsychological characterization of Jacobsen syndrome (del11q).

Clinical and neuropsychological characterization of Jacobsen syndrome (del11q).

Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.

Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.

Jacobsen syndrome associated with Shone's complex: a case report.

Jacobsen syndrome associated with Shone's complex: a case report.

Reply to "Jacobsen Syndrome in a Patient with Combined Immunodeficiency, Thrombocytopenia, and Lymphoma".

Reply to "Jacobsen Syndrome in a Patient with Combined Immunodeficiency, Thrombocytopenia, and Lymphoma".

Jacobsen Syndrome in a Patient with Combined Immunodeficiency, Thrombocytopenia, and Lymphoma.

Jacobsen Syndrome in a Patient with Combined Immunodeficiency, Thrombocytopenia, and Lymphoma.

Hematological abnormalities in Jacobsen syndrome: cytopenia of varying severities and morphological abnormalities in peripheral blood and bone marrow.

Hematological abnormalities in Jacobsen syndrome: cytopenia of varying severities and morphological abnormalities in peripheral blood and bone marrow.

Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome.

Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome.

Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction.

Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction.

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome.

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome.