Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
about
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndromeTerminal 22q deletion associated with a partial deficiency of arylsulphatase AMendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersGenomic imprinting: review and relevance to human diseases.Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosisTwo sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.Features of DiGeorge syndrome and CHARGE association in five patients.Prenatal diagnosis by FISH of a 22q11 deletion in two familiesUtero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.A prospective cytogenetic study of 36 cases of DiGeorge syndromeMolecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.Molecular characterization of the marker chromosome associated with cat eye syndromeHistory of Our Understanding of the Causes of Congenital Heart Disease.22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.Developmental trajectories in 22q11.2 deletion.Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Molecular studies of DiGeorge syndrome.DiGeorge syndrome: an historical review of clinical and cytogenetic features.Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qterIsolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).Angelman's syndrome, abnormality of 15q11-13, and imprinting.Molecular cytogenetics: toward dissection of the contiguous gene syndromesHow many breaks do we need to CATCH on 22q11?
P2860
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P2860
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
description
1988 nî lūn-bûn
@nan
1988 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
@ast
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
@en
type
label
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
@ast
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
@en
prefLabel
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
@ast
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
@en
P2093
P2860
P1476
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
@en
P2093
D H Ledbetter
F Greenberg
H Northrup
P2860
P304
P407
P577
1988-11-01T00:00:00Z