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.
about
Deficiency in type 1 insulin-like growth factor receptor in mice protects against oxygen-induced lung injuryIGF-I: A Key Growth Factor that Regulates Neurogenesis and Synaptogenesis from Embryonic to Adult Stages of the BrainAutosomal ring chromosomes in human genetic disordersInsulin-like growth factors in embryonic and fetal growth and skeletal development (Review)Knockout of insulin-like growth factor-1 receptor impairs distal lung morphogenesisIn 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.Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delayMethylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalitiesAbnormal Paraventricular Nucleus of Hypothalamus and Growth Retardation Associated with Loss of Nuclear Receptor Gene COUP-TFIIImprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Genetic disorders of human growth.Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors.Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.Transcriptome analysis in prenatal IGF1-deficient mice identifies molecular pathways and target genes involved in distal lung differentiation.A case of de novo duplication of 15q24-q26.3.Genomic imbalances in mental retardation.Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformationsPartial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.Terminal deletion of chromosome 15q26.1: case report and brief literature review.Involvement of Igf1r in Bronchiolar Epithelial Regeneration: Role during Repair Kinetics after Selective Club Cell Ablation.Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report.Is gestation in Prader-Willi syndrome affected by the genetic subtype?Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.Multiplex ligation-dependent probe amplification (MLPA): a reliable alternative for fetal chromosome analysis?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.Response to Growth Hormone Treatment in a Patient with Insulin-like Growth Factor 1 Receptor (IGF1R) Deletion.IGF-related proteins at birth in a case of antenatally diagnosed Silver-Russell syndrome.Differential organ phenotypes after postnatal Igf1r gene conditional deletion induced by tamoxifen in UBC-CreERT2; Igf1r fl/fl double transgenic mice.Distal trisomy of 10q with distal monosomy of 15q due to a paternal translocation.A rare non-Robertsonian translocation involving chromosomes 15 and 21.Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.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.A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.
P2860
Q24791922-F2D20AD8-6185-479E-85BD-2C35875BEBC7Q26768613-C02A162F-2A0A-43CD-A9FA-586AC8838765Q26770319-520C9476-E3FD-43BA-AE3B-5D8BC72987B3Q27690674-04FC4C95-772D-48A5-983F-659311E3921FQ28484897-CD3502ED-7B8E-4279-AB91-CBB45C775815Q30826617-DE49AE3A-E4E2-409E-8F0E-9BF52A794910Q33314621-D491BB8C-7BF4-4E2C-9F88-143A6F837AF2Q33864044-93A0E072-AFAD-4729-8B48-CCE4EE302727Q33902980-7000FA1D-5EA5-4BD4-A4B6-1F4E244A3C65Q34142141-286C2B96-A027-4940-9D3B-C28C09C65537Q34465575-A1DE114D-68DD-467E-A4FE-CE79596935ABQ34716062-599996F7-E218-4434-9FEC-BC8C4894AA12Q34980069-B20121DC-7BA5-463B-A133-2D3D5D333EE8Q34982435-FB5ADF92-2782-4669-9F18-7DA765AFF4C7Q35082386-F2F107E9-8AB1-4F80-B7A3-2E31F618DA96Q35216350-453F0356-689B-40FA-98BE-2D27E665666EQ35445393-36C905C2-71CA-482F-9958-97A631B5CEC4Q35447657-48BAE871-CEEB-463D-B336-133863DBEFD6Q35776674-C8B3924A-292F-482B-AF4C-6B7432BF5768Q36103488-33E0F861-0A3C-4326-9C4A-F1D818C0BC84Q36197145-F2B367A7-79E4-4199-9092-2AEC524B33C4Q36284074-952F0BB6-CC0E-4E6F-ABA0-72CADCF5AB0FQ37399911-A86C6016-FC10-4647-826E-FE2BE5772B84Q38844094-9AA8B27F-8646-4604-B46E-A2A57A96FB73Q39685329-4F1792F7-BB01-4752-974D-01D6B9F4EDDFQ40962785-A229BB6A-F453-4E69-B1A4-97DF9D281EE2Q41110445-7B5D896F-EC8E-49A1-B6A8-B45F79999FDAQ41221060-14A8FAC7-C67B-4BB8-8C1C-8CB65F3DD937Q41919080-8B046E6F-279C-4F7D-A559-7F368C661D31Q41923131-9EB1809B-C20C-4393-919E-5FB31F1F41DCQ41929403-2CAAFEAF-41F6-4BD6-8DD0-B4BA79D98FFCQ41937559-1A85F81F-1E6D-4E6C-9732-FFD1FAAE46EDQ44031565-5E443584-D0F3-41D4-84F2-54AA2A206037Q46966456-F2C3C7A1-DBE5-4C13-81D7-4877F0926ACAQ50312470-622D8303-F171-4E9D-8099-8328936C7C9DQ51960539-21C72801-2865-44AF-B1A0-0534D49C5D9EQ52952095-9D134C9A-7A0F-4C50-A728-B0143155F1F8Q53489608-1B2B174E-CF23-4443-A0B8-B6B8697B7351Q54551808-96CE1CA8-CDE4-48E9-B1E9-87E55A7871C1Q55044754-26414414-A561-402F-8E95-E92D1EDD2345
P2860
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.
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
An infant with deletion of the ...... growth factor 1 receptor gene.
@ast
An infant with deletion of the ...... growth factor 1 receptor gene.
@en
type
label
An infant with deletion of the ...... growth factor 1 receptor gene.
@ast
An infant with deletion of the ...... growth factor 1 receptor gene.
@en
prefLabel
An infant with deletion of the ...... growth factor 1 receptor gene.
@ast
An infant with deletion of the ...... growth factor 1 receptor gene.
@en
P2093
P2860
P50
P356
P1476
An infant with deletion of the ...... growth factor 1 receptor gene
@en
P2093
P2860
P356
10.1002/AJMG.1320380117
P577
1991-01-01T00:00:00Z