Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
about
Insulin-like growth factors in embryonic and fetal growth and skeletal development (Review)Copy number variants in short children born small for gestational age.Nutritionally-induced catch-up growthIGF-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.Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delayThe role of liver-derived insulin-like growth factor-I.Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.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.Response to Growth Hormone Treatment in a Patient with Insulin-like Growth Factor 1 Receptor (IGF1R) Deletion.Differential organ phenotypes after postnatal Igf1r gene conditional deletion induced by tamoxifen in UBC-CreERT2; Igf1r fl/fl double transgenic mice.Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.
P2860
Q27690674-30443C79-8161-4E7C-A596-B931F09B14A7Q34536372-6D885B79-1DEA-4C47-8D35-B77CD0BBCCA1Q35003838-F8AC7C8D-5A63-44F5-82BB-DFAFDD635648Q35229825-EA042720-0725-4343-8DE9-E0CF83CDE769Q36437105-782048C8-1ED1-4A80-BED1-47D3CB555160Q37235180-5E93D633-AAE9-4650-A782-B946D52BA71DQ37381848-E935720B-5EFB-455A-B132-13C6BFD34E11Q38844094-4B5DFF43-230C-4F0B-9766-20B914B81384Q41238081-CDE3011C-367B-4EB6-A5FC-38869E350C7EQ41919080-C365894F-3BEB-488D-828D-60EA6CA516DFQ41929403-D3355DD3-3F08-4B63-BADC-BD2DBE2B6CA4Q41933674-27DDA2A1-2992-46AA-8B25-92FE454AE2A2Q50312470-D87E311F-30F9-4775-A408-B4AF44DC8354Q54551808-944B4B6B-D84B-4ADA-9CE6-D321D7A1B7D6
P2860
Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Successful long-term growth ho ...... ligation probe amplification.
@en
type
label
Successful long-term growth ho ...... ligation probe amplification.
@en
prefLabel
Successful long-term growth ho ...... ligation probe amplification.
@en
P2093
P356
P1476
Successful long-term growth ho ...... ligation probe amplification.
@en
P2093
Annemieke M Boot
Hermine A van Duyvenvoorde
Johan T Den Dunnen
Marcel Karperien
Margot E Kalf
Marianne de Mos
Marie J E Walenkamp
Monique Losekoot
Sarina G Kant
P304
P356
10.1210/JC.2007-1789
P407
P577
2008-03-18T00:00:00Z