Literature DB >> 22065603

Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.

Laura I Rudaks1, Jillian K Nicholl, Drago Bratkovic, Christopher P Barnett.   

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Year:  2011        PMID： 22065603     DOI： 10.1002/ajmg.a.34310

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.

Authors:  Molka Kammoun; Wafa Slimani; Hanene Hannachi; Mohamed Bibi; Ali Saad; Soumaya Mougou-Zerelli
Journal:  J Pediatr Genet       Date:  2017-04-26

2.  Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

Authors:  Paula Ocaranza; Marjorie C Golekoh; Shayne F Andrew; Michael H Guo; Paul Kaplowitz; Howard Saal; Ron G Rosenfeld; Andrew Dauber; Fernando Cassorla; Philippe F Backeljauw; Vivian Hwa
Journal:  Horm Res Paediatr       Date:  2017-04-10       Impact factor: 2.852

3.  Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.

Authors:  Jens Witsch; Przemyslaw Szafranski; Chun-An Chen; LaDonna Immken; Gayle Simpson Patel; Patricia Hixson; Sau Wai Cheung; Pawel Stankiewicz; Christian P Schaaf
Journal:  Eur J Hum Genet       Date:  2013-03-13       Impact factor: 4.246

4.  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.

Authors:  Paola Pelosi; Elisabetta Lapi; Loredana Cavalli; Alberto Verrotti; Marilena Pantaleo; Maurizio de Martino; Stefano Stagi
Journal:  Front Endocrinol (Lausanne)       Date:  2017-09-05       Impact factor: 5.555

5.  Abnormal Paraventricular Nucleus of Hypothalamus and Growth Retardation Associated with Loss of Nuclear Receptor Gene COUP-TFII.

Authors:  Su Feng; Can Xing; Tingyu Shen; Yunbo Qiao; Ran Wang; Jun Chen; Jiaoyang Liao; Zhuo Lu; Xiong Yang; Saber Mohamed Abd-Allah; Jinsong Li; Naihe Jing; Ke Tang
Journal:  Sci Rep       Date:  2017-07-13       Impact factor: 4.379

6.  Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion.

Authors:  Ranim Mahmoud; Ajanta Naidu; Hiba Risheg; Virginia Kimonis
Journal:  J Clin Res Pediatr Endocrinol       Date:  2017-07-17
  6 in total

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