Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
about
Monosomy 18pAutosomal ring chromosomes in human genetic disordersLow grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomaliesMolecular characterization of ring chromosome 18 by low-coverage next generation sequencing.Application of multicolor banding for identification of complex chromosome 18 rearrangements.Hypothyroidism and levothyroxine-responsive liver dysfunction in a patient with ring chromosome 18 syndrome.Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects.Ring autosomes: some unexpected findingsHuman Ring Chromosomes - New Insights for their Clinical Significance.Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p DeletionThree unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.Marker chromosomes.Ring chromosome 18: a case reportA gene dosage map of Chromosome 18: a map with clinical utility.Patchy white matter hyperintensity in ring chromosome 18 syndrome.Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome.Meiotic origin of two ring chromosomes 18 in a girl with developmental delay.Abnormal myelination in ring chromosome 18 syndrome.Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature.
P2860
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P2860
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
2001年论文
@zh
2001年论文
@zh-cn
name
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
@en
type
label
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
@en
prefLabel
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
@en
P2093
P2860
P1476
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
@en
P2093
Balcerska A
Hélias-Rodzewicz Z
Mazurczak T
Stankiewicz P
P2860
P304
P356
10.1002/1096-8628(20010701)101:3<226::AID-AJMG1349>3.0.CO;2-#
P577
2001-07-01T00:00:00Z