Literature DB >> 24033502

Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation.

Yuki Kawashima1, Fumihiko Hakuno, Shin-ichi Okada, Tomoyuki Hotsubo, Tomoe Kinoshita, Masanobu Fujimoto, Rei Nishimura, Toshiaki Fukushima, Keiichi Hanaki, Shin-ichiro Takahashi, Susumu Kanzaki.   

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Year:  2013        PMID： 24033502     DOI： 10.1111/cen.12317

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


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  5 in total

1.  LINC24065 is a monoallelically expressed long intergenic noncoding RNA located in the cattle DLK1-DIO3 cluster.

Authors:  Cui Zhang; Da Xu; Weina Chen; Junliang Li; Qinghua Gao; Shijie Li
Journal:  J Genet       Date:  2019-03       Impact factor: 1.166

2.  A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes.

Authors:  Melanie R Shapiro; Timothy P Foster; Daniel J Perry; Ron G Rosenfeld; Andrew Dauber; James A McNichols; Andrew Muir; Vivian Hwa; Todd M Brusko; Laura M Jacobsen
Journal:  Horm Res Paediatr       Date:  2020-10-28       Impact factor: 2.852

3.  A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia.

Authors:  R Solomon-Zemler; L Basel-Vanagaite; D Steier; S Yakar; E Mel; M Phillip; L Bazak; D Bercovich; H Werner; L de Vries
Journal:  Endocr Connect       Date:  2017-06-25       Impact factor: 3.335

4.  Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation

Authors:  Paula Ocaranza; Monique Losekoot; Marie J. E. Walenkamp; Christiaan De Bruin; Jan M. Wit; Veronica Mericq
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-03-12

5.  Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations.

Authors:  Yuki Kawashima-Sonoyama; Tomoyuki Hotsubo; Takashi Hamajima; Naoki Hamajima; Masanobu Fujimoto; Noriyuki Namba; Susumu Kanzaki
Journal:  Clin Pediatr Endocrinol       Date:  2022-02-07
  5 in total

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