Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.
about
Insulin-like growth factors in embryonic and fetal growth and skeletal development (Review)No evidence for copy number and methylation variation in H19 and KCNQ10T1 imprinting control regions in children born small for gestational age.Identification of copy number variation hotspots in human populations.Copy number variants in short children born small for gestational age.Bone deficits in parenteral nutrition-dependent infants and children with intestinal failure are attenuated when accounting for slower growth.The role of insulin-like growth factor-I in the physiopathology of hearing.IGF-1 and bone: New discoveries from mouse modelsGenetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short statureIntragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delayCopy number variants in patients with short stature.Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation.Bone Status in a Patient with Insulin-Like Growth Factor-1 Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using Dual-Energy X-Ray Absorptiometry, Peripheral Quantitative Computed Tomography, and Quantitative Ultrasonography.A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia.Response to Growth Hormone Treatment in a Patient with Insulin-like Growth Factor 1 Receptor (IGF1R) Deletion.Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.Genetic association and sequencing of the insulin-like growth factor 1 gene in bipolar affective disorder.Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp).Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.New insights into factors influencing adult height in short SGA children: Results of a large multicentre growth hormone trial.The Role of Insulin-Like Growth Factor 1 in the Progression of Age-Related Hearing Loss.Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.Incidence of short stature at 3 years of age in late preterm infants: a population-based study.Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype.[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.
P2860
Q27690674-2A3E01BA-E2A5-4DA5-90F2-24B0072A3E40Q33874342-01675882-731A-4789-A6AA-5359BC63ED39Q34169422-8DE6E5DA-194C-46A5-A8A7-6FDF9FE7C039Q34536372-6F5C4479-96A2-447C-B1B6-B13EB07CD062Q34631196-82A53C4E-B4AF-4BCF-B9F6-A78084E02A95Q35135142-2E0CF617-0168-40F0-9A4E-1E1DBCC3B113Q35229825-DC193941-F07A-4C1C-A65A-7C25AED176A3Q36437105-80F3103B-2B7D-4BE9-89E8-F44FAC33B9F5Q37071236-2483E836-0031-416D-BDF1-259BB7E8DE90Q37235180-08FA11E1-3DD5-461B-AF5F-9DBE6B8D50D6Q37711793-0E49AAB7-E00D-4706-BDB2-7278626582C7Q39400999-1E81270B-F4BA-4F9E-A7B7-4595E1FAF39AQ41238081-408D7383-EFC2-4B91-A1AC-D1D19D4F6F09Q41340739-5EA84D6E-C6CA-4896-B8DD-C253BFF8710EQ41919080-6DEE2A4C-5896-489F-A0C2-30D3D58201C6Q41933674-61ECC74C-5E66-4EBF-96F3-C04AA6CF322CQ45074892-DF585DF6-2D58-4A9E-940A-869D6C696C66Q46553771-7735858B-41CC-4294-AC39-88C84A85FB73Q46966456-D9B54485-192B-4946-8B36-B8DD89BAA2C0Q47425031-79EDD615-C97C-4316-9372-BA3357C169EBQ49246728-C4AACC37-F7BD-41CE-97A1-8FA4B2786059Q50312470-C6D2D915-C25B-4F05-BF4F-D4837E04B101Q50459423-C269C6D7-6A89-4313-A344-55F828991B90Q50758564-EE82073B-A740-4338-A3FA-E476D4A5DA40Q53534557-38EF8385-BF26-4342-A4D6-8FF237FF106BQ54538550-2A3EA8F3-A86A-4B6E-8DAC-7425E243156EQ54551808-9681ACFE-5D22-4DD2-B92C-D2932D31086A
P2860
Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 28 October 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Two short children born small ...... eterogeneity of its phenotype.
@en
Two short children born small ...... eterogeneity of its phenotype.
@nl
type
label
Two short children born small ...... eterogeneity of its phenotype.
@en
Two short children born small ...... eterogeneity of its phenotype.
@nl
prefLabel
Two short children born small ...... eterogeneity of its phenotype.
@en
Two short children born small ...... eterogeneity of its phenotype.
@nl
P2093
P356
P1476
Two short children born small ...... eterogeneity of its phenotype.
@en
P2093
Alexander J Broekman
Anita C S Hokken-Koelega
Caroline C de Wit
Claudia A L Ruivenkamp
Hermine A van Duyvenvoorde
Lutgarde C P Govaerts
Monique Losekoot
P304
P356
10.1210/JC.2008-1502
P407
P577
2009-10-28T00:00:00Z