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Autosomal ring chromosomes in human genetic disordersIn vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene.An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalitiesCongenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridizationImprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography.Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Ring chromosome 12 and severe oligospermia: a case reportTelomeres: a diagnosis at the end of the chromosomesTerminal deletion of chromosome 15q26.1: case report and brief literature review.Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia.Cutis tricolor parvimaculata in two patients with ring chromosome 15 syndrome.Ophthalmic treatment and vision care of a patient with rare ring chromosome 15: a case reportChromosome 15 structural abnormalities: effect on IGF1R gene expression and function.Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.Good growth response to growth hormone treatment in the ring chromosome 15 syndrome.Ring chromosome 15 syndrome in an adult female.Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15.The normality of sperm in an infertile man with ring chromosome 15: a case report.Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2).Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 1988
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Two patients with ring chromosome 15 syndrome.
@en
Two patients with ring chromosome 15 syndrome.
@nl
type
label
Two patients with ring chromosome 15 syndrome.
@en
Two patients with ring chromosome 15 syndrome.
@nl
prefLabel
Two patients with ring chromosome 15 syndrome.
@en
Two patients with ring chromosome 15 syndrome.
@nl
P2093
P2860
P356
P1476
Two patients with ring chromosome 15 syndrome.
@en
P2093
P2860
P304
P356
10.1002/AJMG.1320290119
P577
1988-01-01T00:00:00Z