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11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report
Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability Role of FLI1, ETS1, and SENCR long noncoding RNA
Successful Management of a Patient With Jacobsen Syndrome and Hypoplastic Left Heart Syndrome
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature
Scurvy Findings in a Child with Jacobsen Syndrome
White matter abnormality in Jacobsen syndrome assessed by serial MRI
Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and review of 52 cases
11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome
Morphological and genetic abnormalities in a Jacobsen syndrome
Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis
Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome
A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex
A case of Jacobsen syndrome with multifocal white matter lesions
Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound
Exploration of differences in types of sleep disturbance and severity of sleep problems between individuals with Cri du Chat syndrome, Down’s syndrome, and Jacobsen syndrome: A case control study
Paris-Trousseau Syndrome Platelets in a Child With Jacobsen’s Syndrome
Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region
Anesthetic implications of Jacobsen syndrome
Blalock-Taussig Shunt Thrombosis Prophylaxis in a Patient With Jacobsen Syndrome and Thrombocytopenia
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH
HYPOGAMMAGLOBULINEMIA IN A 12-YEAR-OLD PATIENT WITH JACOBSEN SYNDROME
Two siblings with 11qter deletion syndrome that had been rescued in their T mother by uniparental disomy
'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome
Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome
Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome
Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy
Partial deletion of long arm of chromosome 11 [del(11)(q23)]: Jacobsen syndrome
Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Interstitial 11q deletion derived from a maternal ins (4;11) (p14;q24.2q25): a patient report and review
Pure Distal 11q Deletion without Additional Genomic Imbalances in a Female Infant with Jacobsen Syndrome and a De Novo Unbalanced Reciprocal Translocation
Chromosomal aberrations in congenital bone marrow failure disorders—an early indicator for leukemogenesis?
Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16)
Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay
Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome
Clinical and Molecular Characterization of Patients with Distal IIq Deletions
Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients
Partial deletion of the long arm of chromosome 11: ten Japanese children
A novel case of Bilateral High Myopia, cataract, and total retinal detachment Associated with Interstitial 11q deletion
Clinical and genetic aspects of trigonocephaly: a study of 25 cases
Are cecal wrap and fixation necessary for antegrade colonic enema appendicostomy?
Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization
A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism
A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes
Brain Hemorrhages in Jacobsen Syndrome: A Retrospective Review of Six Cases and Clinical Recommendations
The 11q Terminal Deletion Disorder: A Prospective Study of 110 Cases
Molecular Characterization of an 11q Interstitial Deletion in a Patient With the Clinical Features of Jacobsen Syndrome
Article Name
Chromoanasynthesis as a cause of Jacobsen syndrome
Multiple cerebral cysts are another possible feature of Jacobsen syndrome
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling
Author response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diuse hypomyelination of brain
Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diuse hypomyelination of brain
Teaching NeuroImages: A rare case of Jacobsen syndrome with global diuse hypomyelination of brain
Alteration of the Arcuate Fasciculus in Jacobsen Syndrome Shown by Diffusion Tensor Imaging
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)
Increased Excitatory Synaptic Transmission of Dentate Granule Neurons in Mice Lacking PSD-95-Interacting Adhesion Molecule Neph2/Kirrel3 during the Early Postnatal Period
11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures
Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment
Localization of Jacobsen Syndrome Breakpoints on a 40-Mb Physical Map of Distal Chromosome 11q
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q
Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome
Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3
Jacobsen Syndrome and Beckwith-Wiedemann Syndrome Caused by a Parental Pericentric Inversion inv(11)(p15q24)
Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome
Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size
Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome
Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)
FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia
Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype–phenotype maps
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B
de novo interstitial deletions at the 11q23.3-q24.2 region
Partial deletion of long arm of chromosome 1 l[del(11)(q23)]: Jacobsen syndrome
Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay
Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report
Cloning and chromosomal localization of the human BARX2 homeobox protein gene
Partial deletion of the long arm of chromosome 11 the Jacobsen syndrome
Spontaneous expression of FRA16B in a non-consanguineous couple experiencing multiple fetal losses
Mapping of the a-Tectorin Gene (TECTA) to Mouse Chromosome 9 and Human Chromosome 11: A Candidate for Human Autosomal Dominant Nonsyndromic Deafness
Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects
Hypoplastic Left Heart Syndrome: A New Paradigm for an Old Disease?
Evidence That Deletion of ETS-1, a Gene in the Jacobsen Syndrome (11q-) Cardiac Critical Region, Causes Congenital Heart Defects through Impaired Cardiac Neural Crest Cell Function
Increased Frequency of De Novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice
Persistent left superior vena cava: does it have a role in the pathogenesis of hypoplastic left heart syndrome?
Deletion of JAM-C, a Candidate Gene for Heart Defects in Jacobsen Syndrome, Results in a Normal Cardiac Phenotype in Mice
Prenatal diagnosis of Jacobsen syndrome in a fetus carried by a pregnant woman with intellectual disability
Jacobsen Syndrome, Braddock–Carey Syndrome, and Beyond: Reflections on Intellectual Disability Accompanied with Thrombocytopenia
PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking
Neph2/Kirrel3 regulates sensory input, motor coordination, and home-cage activity in rodents
Mice lacking the synaptic adhesion molecule Neph2/Kirrel3 display moderate hyperactivity and defective novel object preference
Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor
Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3)
Jacobsen syndrome detected by noninvasive prenatal testing
Nuchal thickening in Jacobsen syndrome
Prenatal diagnosis of mosaicism for 11q terminal deletion
Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities
Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen Syndrome)
