Clinical and molecular characterization of patients with distal 11q deletions.
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 thrombopeniaCytogenomic Aberrations in Congenital Cardiovascular MalformationsLocalization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11qJacobsen 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).Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet AbnormalityThe 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.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.At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization.Telomeres: a diagnosis at the end of the chromosomesMolecular cytogenetic analysis of telomere rearrangements.de novo interstitial deletions at the 11q23.3-q24.2 regionPrimary immunodeficiency associated with chromosomal aberration - an ESID surveyThe impact of Fli1 deficiency on the pathogenesis of systemic sclerosisA Matter of the Heart: The African Clawed Frog Xenopus as a Model for Studying Vertebrate Cardiogenesis and Congenital Heart Defects.An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease.Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region.
P2860
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P2860
Clinical and molecular characterization of patients with distal 11q deletions.
description
1995 nî lūn-bûn
@nan
1995 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մարտին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Clinical and molecular characterization of patients with distal 11q deletions.
@ast
Clinical and molecular characterization of patients with distal 11q deletions.
@en
type
label
Clinical and molecular characterization of patients with distal 11q deletions.
@ast
Clinical and molecular characterization of patients with distal 11q deletions.
@en
prefLabel
Clinical and molecular characterization of patients with distal 11q deletions.
@ast
Clinical and molecular characterization of patients with distal 11q deletions.
@en
P2093
P2860
P1476
Clinical and molecular characterization of patients with distal 11q deletions
@en
P2093
Bergoffen J
Dell'Aquila M
Graham JM Jr
Kousseff B
P2860
P304
P407
P577
1995-03-01T00:00:00Z