Literature DB >> 2664179

The SHORT syndrome: further delineation and natural history.

A H Lipson1, C Cowell, R J Gorlin.   

Abstract

Mesh：

Year:  1989        PMID： 2664179      PMCID： PMC1015656          DOI： 10.1136/jmg.26.7.473

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  Genetics of tuberous sclerosis.

Authors:  J G Hall; P H Byers
Journal:  Lancet       Date:  1987-03-28       Impact factor: 79.321

2.  Report of a case and further delineation of the SHORT syndrome.

Authors:  H V Toriello; S Wakefield; K Komar; J V Higgins; D F Waterman
Journal:  Am J Med Genet       Date:  1985-10

3.  Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes.

Authors:  D Aarskog; L Ose; H Pande; N Eide
Journal:  Am J Med Genet       Date:  1983-05
  3 in total
  6 in total

1.  Mutations in PIK3R1 cause SHORT syndrome.

Authors:  David A Dyment; Amanda C Smith; Diana Alcantara; Jeremy A Schwartzentruber; Lina Basel-Vanagaite; Cynthia J Curry; I Karen Temple; William Reardon; Sahar Mansour; Mushfequr R Haq; Rodney Gilbert; Ordan J Lehmann; Megan R Vanstone; Chandree L Beaulieu; Jacek Majewski; Dennis E Bulman; Mark O'Driscoll; Kym M Boycott; A Micheil Innes
Journal:  Am J Hum Genet       Date:  2013-06-27       Impact factor: 11.025

Review 2.  Lipodystrophies: disorders of adipose tissue biology.

Authors:  Abhimanyu Garg; Anil K Agarwal
Journal:  Biochim Biophys Acta       Date:  2009-01-07

Review 3.  SHORT syndrome in a two-year-old girl - case report.

Authors:  Maria Klatka; Izabela Rysz; Katarzyna Kozyra; Agnieszka Polak; Witold Kołłątaj
Journal:  Ital J Pediatr       Date:  2017-05-04       Impact factor: 2.638

Review 4.  SHORT syndrome in two Chinese girls: A case report and review of the literature.

Authors:  Yanhong Zhang; Baolan Ji; Jinsheng Li; Yanying Li; Mei Zhang; Bo Ban
Journal:  Mol Genet Genomic Med       Date:  2020-06-29       Impact factor: 2.183

5.  PI3-kinase mutation linked to insulin and growth factor resistance in vivo.

Authors:  Jonathon N Winnay; Marie H Solheim; Ercument Dirice; Masaji Sakaguchi; Hye-Lim Noh; Hee Joon Kang; Hirokazu Takahashi; Kishan K Chudasama; Jason K Kim; Anders Molven; C Ronald Kahn; Pål R Njølstad
Journal:  J Clin Invest       Date:  2016-03-14       Impact factor: 14.808

6.  A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.

Authors:  Liying Sun; Qianwen Zhang; Qun Li; Yijun Tang; Yirou Wang; Xin Li; Niu Li; Jian Wang; Xiumin Wang
Journal:  BMC Med Genet       Date:  2020-10-31       Impact factor: 2.103
  6 in total

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