Results 81 to 90 of about 1,611,821 (178)

Jacobsen Syndrome with 11q Deletion, Trigonocephaly, and MYBPC3 Mutation: A Unique Case Report

Jacobsen syndrome (JS), also known as 11q deletion disorder, is a rare chromosomal condition characterized by a wide range of congenital anomalies, developmental delays, and hematological abnormalities.
K.B, Sonoma Maria, Jose, Sonatta Monica, Nijalingappa.K.Kalappanavar, Pisale, Harshith M   +3 more
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Gene-targeted deletion in mice of the Ets−1 transcription factor, a candidate gene in the Jacobsen syndrome kidney “critical region,” causes abnormal kidney development

, 2019
Ets-1 is a member of the Ets family of transcription factors and has critical roles in multiple biological functions. Structural kidney defects occur at an increased frequency in Jacobsen syndrome (OMIM #147791), a rare chromosomal disorder caused by ...
Ye M., Nigam S. K., Fu M., Mattina T., Chen D., Xu L., Zufardi O., Bush K. T., Rossi E., Grossfeld P.   +9 more
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Brief von Hermann Jacobsen an Walter Arnold Abraham Dirichlet

BRIEF VON HERMANN JACOBSEN AN WALTER ARNOLD ABRAHAM DIRICHLET Brief von Hermann Jacobsen an Walter Arnold Abraham Dirichlet ...
Dirichlet, Walter Arnold Abraham, Jacobsen, Hermann   +1 more
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Jacobsen Syndrome [PDF]

, 2020
openaire   +3 more sources

Jacobsen syndrome without thrombocytopenia: a case report and review of the literature

The Turkish Journal of Pediatrics, 2013
Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects,
Burçin Nalbantoğlu, M Metin Donma, Kemal Nişli, Cem Paketçi, Erkut Karasu, Burcu Ozdilek, Nuriye Ece Mintaş   +6 more
doaj  

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

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis (CMA) in a fetus with multiple congenital anomalies on fetal ultrasound.
Chih-Ping Chen, Jian-Pei Huang, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang   +7 more
doaj   +1 more source

White matter alterations in 11q Deletion Syndrome: MRI aspecific findings?

, 2007
To describe MRI findings in a child with 11q deletion syndrome (Jacobsen syndrome) and to discuss the differential diagnosis with other genetic white matter ...
CALZOLARI, Ferdinando, S. Bigoni, FIUMANA, Elisa   +2 more
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Morphological and genetic abnormalities in a Jacobsen syndrome.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie, 2018
Jacobsen syndrome (JS) is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The syndrome is rare and there are very few observations regarding the pubertal period of the affected individuals. We report the case of a 22-year-old female, with JS, monitored since the age of three months.
Alexandru Daniel, Jurcă, Kinga, Kozma, Mihai, Ioana, Ioana, Streaţă, Codruţa Diana, Petcheşi, Marius, Bembea, Maria Claudia, Jurcă, Emilia Albiniţa, Cuc, Cosmin Mihai, Vesa, Camelia Liana, Buhaş   +9 more
openaire   +1 more source

Abstract Supplement HIV Glasgow 8–11 November 2026, Glasgow, UK/Virtual

Journal of the International AIDS Society, Volume 29, Issue S6, November 2026.
wiley   +1 more source

Orva Jacobsen

, 1931
Orva Jacobsen is the daughter of Orson L. and Celestia A. Jacobsen. She married George Weldon Allred.
Thorne, Leo
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