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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study; Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM. Palmer EE, et al. Among authors: sommer a. Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23. Mol Psychiatry. 2018. PMID: 27550844 Free PMC article.
Photo essay--Seckel syndrome.
Sommer A. Sommer A. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):230-1. doi: 10.1002/ajmg.c.30144. Am J Med Genet C Semin Med Genet. 2007. PMID: 17640052 No abstract available.
Familial occurrence of primary fibromyalgia.
Pellegrino MJ, Waylonis GW, Sommer A. Pellegrino MJ, et al. Among authors: sommer a. Arch Phys Med Rehabil. 1989 Jan;70(1):61-3. Arch Phys Med Rehabil. 1989. PMID: 2916922
Photo essay--geroderma osteodysplastica.
Sommer A. Sommer A. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):291-2. doi: 10.1002/ajmg.c.30146. Am J Med Genet C Semin Med Genet. 2007. PMID: 17640054 No abstract available.
Photo essay--Noonan syndrome.
Sommer A. Sommer A. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):273. doi: 10.1002/ajmg.c.30147. Am J Med Genet C Semin Med Genet. 2007. PMID: 17640055 No abstract available.
12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.
Alyaqoub F, Pyatt RE, Bailes A, Brock A, Deeg C, McKinney A, Astbury C, Reshmi S, Shane KP, Thrush DL, Sommer A, Gastier-Foster JM. Alyaqoub F, et al. Among authors: sommer a. Am J Med Genet A. 2012 Nov;158A(11):2925-30. doi: 10.1002/ajmg.a.35610. Epub 2012 Sep 14. Am J Med Genet A. 2012. PMID: 22987822
Photo essay--hypochrondroplasia.
Sommer A. Sommer A. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):307-8. doi: 10.1002/ajmg.c.30145. Am J Med Genet C Semin Med Genet. 2007. PMID: 17640053 No abstract available.
1,112 results