Jacobsen Syndrome Latest Advances

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 Latest Advances

Find the Latest Research About Jacobsen Syndrome

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder.

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder.

Jacobsen Syndrome With White Matter Abnormalities: A Case Report and MRI Follow-Up.

Jacobsen Syndrome With White Matter Abnormalities: A Case Report and MRI Follow-Up.

Kaposi-Juliusberg syndrome in a young man with Jacobsen syndrome.

Kaposi-Juliusberg syndrome in a young man with Jacobsen syndrome.

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.

Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease.

Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease.

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome.

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome.

Prenatal Diagnosis of Unbalanced Translocation t(5;11)(q21;q22) With a Jacobsen Syndrome Clinical Phenotype.

Prenatal Diagnosis of Unbalanced Translocation t(5;11)(q21;q22) With a Jacobsen Syndrome Clinical Phenotype.

Jacobsen Syndrome: A Case Report With Olfactory Bulb Agenesis, Severe Endocrinopathy, and Neurodevelopmental Delay.

Jacobsen Syndrome: A Case Report With Olfactory Bulb Agenesis, Severe Endocrinopathy, and Neurodevelopmental Delay.

Familial Exudative Vitreoretinopathy in a Patient with Jacobsen Syndrome: A Case Report.

Familial Exudative Vitreoretinopathy in a Patient with Jacobsen Syndrome: A Case Report.

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.