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Literature DB >> 12676904

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

V Cormier-Daire, F Molinari, M Rio, O Raoul, M-C de Blois, S Romana, M Vekemans, A Munnich, L Colleaux.

Abstract

Entities: Disease Gene

Mesh：

Year: 2003 PMID： 12676904 PMCID： PMC1735435 DOI： 10.1136/jmg.40.4.300

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

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18 in total

Review 1. Promoting brown and beige adipocyte biogenesis through the PRDM16 pathway.

Authors: S Kajimura
Journal: Int J Obes Suppl Date: 2015-08-04

2. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

Authors: T Kleefstra; M Smidt; M J G Banning; A R Oudakker; H Van Esch; A P M de Brouwer; W Nillesen; E A Sistermans; B C J Hamel; D de Bruijn; J-P Fryns; H G Yntema; H G Brunner; B B A de Vries; H van Bokhoven
Journal: J Med Genet Date: 2005-04 Impact factor: 6.318

3. Update on Kleefstra Syndrome.

Authors: M H Willemsen; A T Vulto-van Silfhout; W M Nillesen; W M Wissink-Lindhout; H van Bokhoven; N Philip; E M Berry-Kravis; U Kini; C M A van Ravenswaaij-Arts; B Delle Chiaie; A M M Innes; G Houge; T Kosonen; K Cremer; M Fannemel; A Stray-Pedersen; W Reardon; J Ignatius; K Lachlan; C Mircher; P T J M Helderman van den Enden; M Mastebroek; P E Cohn-Hokke; H G Yntema; S Drunat; T Kleefstra
Journal: Mol Syndromol Date: 2012-01-24

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

Review 1. Promoting brown and beige adipocyte biogenesis through the PRDM16 pathway.

2. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

3. Update on Kleefstra Syndrome.

4. Control of cognition and adaptive behavior by the GLP/G9a epigenetic suppressor complex.

5. A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome.

Review 6. Brown and beige fat in humans: thermogenic adipocytes that control energy and glucose homeostasis.

7. Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

Review 8. Brown and Beige Fat: Physiological Roles beyond Heat Generation.

9. Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.

Review 10. Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches.