An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.
about
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGHFLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopeniaAnticipation in familial leukemiaTransposition of great arteries: new insights into the pathogenesisMagnetic resonance imaging findings in cerebral palsy.Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome.Platelet storage pool deficiency in Jacobsen syndrome.Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)Jacobsen syndrome.Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.Genetics of familial forms of thrombocytopenia.The Medich giant platelet syndrome: two new cases.'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome.Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet AbnormalityProgress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.Hematopoietic transcription factor mutations and inherited platelet dysfunction.Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.Interstitial 11q24 deletion: a new case and review of the literature.Inherited platelet dysfunction and hematopoietic transcription factor mutations.Hematopoietic transcription factor mutations: important players in inherited platelet defects.Clinical and molecular characterization of patients with distal 11q deletions.Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.Interstitial deletion of the long arm of chromosome 11.Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation.At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.Nonrandom distribution of exchange points in patients with structural rearrangements.Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype.The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature.Mouse models of diseases of megakaryocyte and platelet homeostasis.Clinical characteristics and surgical decision making for infants with metopic craniosynostosis in conjunction with other congenital anomalies.Detecting rearrangements in children using subtelomeric FISH and SKY.NCAM1 is the Target of miRNA-572: Validation in the Human Oligodendroglial Cell Line.A case of discordant related abnormal karyotypes from chorionic villi and amniocytes.Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart.A novel case of bilateral high myopia, cataract, and total retinal detachment associated with interstitial 11q deletion.
P2860
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P2860
An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.
description
1973 nî lūn-bûn
@nan
1973 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1973 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1973年の論文
@ja
1973年論文
@yue
1973年論文
@zh-hant
1973年論文
@zh-hk
1973年論文
@zh-mo
1973年論文
@zh-tw
1973年论文
@wuu
name
An (11;21) translocation in fo ...... etical, and gene marker study.
@ast
An (11;21) translocation in fo ...... etical, and gene marker study.
@en
An (11;21) translocation in fo ...... etical, and gene marker study.
@nl
type
label
An (11;21) translocation in fo ...... etical, and gene marker study.
@ast
An (11;21) translocation in fo ...... etical, and gene marker study.
@en
An (11;21) translocation in fo ...... etical, and gene marker study.
@nl
prefLabel
An (11;21) translocation in fo ...... etical, and gene marker study.
@ast
An (11;21) translocation in fo ...... etical, and gene marker study.
@en
An (11;21) translocation in fo ...... etical, and gene marker study.
@nl
P2093
P356
P1433
P1476
An (11;21) translocation in fo ...... etical, and gene marker study.
@en
P2093
P304
P356
10.1159/000152624
P577
1973-01-01T00:00:00Z