Schroer RJ - Search Results

1

Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.

Pollard LM, Williams NR, Espinoza L, Wood TC, Spector EB, Schroer RJ, Holden KR. Pollard LM, et al. Among authors: schroer rj. J Child Neurol. 2010 Aug;25(8):954-60. doi: 10.1177/0883073809351984. Epub 2009 Dec 18. J Child Neurol. 2010. PMID: 20023066

2

Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.

De Biase I, Champaigne NL, Schroer R, Pollard LM, Longo N, Wood T. De Biase I, et al. JIMD Rep. 2012;2:87-90. doi: 10.1007/8904_2011_52. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430858 Free PMC article.

3

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE. Hahn KA, et al. Among authors: schroer rj. Am J Hum Genet. 2002 May;70(5):1349-56. doi: 10.1086/340092. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898126 Free PMC article.

4

Natural history of Christianson syndrome.

Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE. Schroer RJ, et al. Am J Med Genet A. 2010 Nov;152A(11):2775-83. doi: 10.1002/ajmg.a.33093. Am J Med Genet A. 2010. PMID: 20949524 Free PMC article.

5

Clinical utility of the X-chromosome array.

Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE. Zarate YA, et al. Among authors: schroer rj. Am J Med Genet A. 2013 Jan;161A(1):120-30. doi: 10.1002/ajmg.a.35698. Epub 2012 Dec 3. Am J Med Genet A. 2013. PMID: 23208842

6

Genetic syndromes among individuals with mental retardation.

Stevenson RE, Procopio-Allen AM, Schroer RJ, Collins JS. Stevenson RE, et al. Among authors: schroer rj. Am J Med Genet A. 2003 Nov 15;123A(1):29-32. doi: 10.1002/ajmg.a.20492. Am J Med Genet A. 2003. PMID: 14556243

7

Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21.

Häne B, Schroer RJ, Arena JF, Lubs HA, Schwartz CE, Stevenson RE. Häne B, et al. Among authors: schroer rj. Clin Genet. 1996 Oct;50(4):176-83. doi: 10.1111/j.1399-0004.1996.tb02622.x. Clin Genet. 1996. PMID: 9001795 Review.

8

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.

Vervoort VS, Smith RJ, O'Brien J, Schroer R, Abbott A, Stevenson RE, Schwartz CE. Vervoort VS, et al. Among authors: schroer r. Eur J Hum Genet. 2002 Nov;10(11):757-66. doi: 10.1038/sj.ejhg.5200877. Eur J Hum Genet. 2002. PMID: 12404110

9

Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome.

Stevenson RE, May M, Arena JF, Millar EA, Scott CI Jr, Schroer RJ, Simensen RJ, Lubs HA, Schwartz CE. Stevenson RE, et al. Among authors: schroer rj. Am J Med Genet. 1994 Sep 1;52(3):339-45. doi: 10.1002/ajmg.1320520317. Am J Med Genet. 1994. PMID: 7810566

10

Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q.

Wang Y, Treat K, Schroer RJ, O'Brien JE, Stevenson RE, Schwartz CE. Wang Y, et al. Among authors: schroer rj. Am J Med Genet. 1994 Jun 1;51(2):169-75. doi: 10.1002/ajmg.1320510221. Am J Med Genet. 1994. PMID: 8092198

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