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Immunodeficiency and Lymphoma in Jacobsen Syndrome [PDF]
Journal of Investigational Allergology and Clinical Immunology, 2022 Nigolian H, Nieke JP, Chevallier M, Stathaki E, Sloan-Béna F, Carminho-Rodrigues MT, Jandus P Division of Immunology and Allergology, University Hospitals and Medical Faculty of Geneva, Geneva, Switzerland Division of Oncology, University Hospitals and ...
Nigolian, Haig +6 more
openaire +3 more sources
Orphanet Journal of Rare Diseases, 2009 Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1.
Grossfeld Paul +2 more
doaj +5 more sources
Definitions, 2020 The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development, including the development of speech and motor skills (such as sitting, standing, and walking).
V. Dalm
semanticscholar +4 more sources
Frontiers in Immunology, 2022 Jacobsen syndrome is a rare genetic disorder associated with a terminal deletion in chromosome 11. The clinical presentation is variable. Although immunodeficiency has been described in patients with Jacobsen syndrome, a clear genotype-phenotype ...
Jana Pachlopnik Schmid +2 more
exaly +3 more sources
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
Italian Journal of Pediatrics, 2021 Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father.
G. Serra +6 more
semanticscholar +1 more source
Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report
Journal of Medical Case Reports, 2022 Background We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically confirmed ...
Marit Lunde Dalen +4 more
doaj +1 more source
Hvem tegnet Doblouggården i Oslo?
Kunst og Kultur, 2023 I 2021 startet et internasjonalt samarbeid gjennom ICOMOS med tanke på å foreslå den tyske arkitekten Erich Mendelsohns samlede produksjon som verdenskulturminne.
Siri Skjold Lexau
doaj +1 more source
Study on calculation method of stability for embedded penstocks with stiffener ring under external pressure [PDF]
E3S Web of Conferences, 2021 A three-dimensional FEM(finite element model)is established, including penstocks with initial defect (ovality), backfill concrete, drainage cushion and surrounding rock. The nonlinear static calculation of the model is carried out.
Wang Bifei +3 more
doaj +1 more source
Chromoanasynthesis as a Cause of Jacobsen Syndrome
American Journal of Medical Genetics. Part A, 2020 Jacobsen syndrome (MIM #147791) is a rare multisystem genomic disorder involving craniofacial abnormalities, intellectual disability, other neurodevelopmental defects, and terminal truncation of chromosome 11q, typically deleting ~170 to >340 genes.
S. Anzick +13 more
semanticscholar +1 more source
Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome
Medicine, 2020 Rationale: Jacobsen syndrome (JBS) is a rare chromosomal disorder with variable phenotypic expressivity, which is usually diagnosed in infancy and childhood based on clinical examination and hematological and cytogenetic findings.
Shuang Chen +6 more
semanticscholar +1 more source