Collins JS - Search Results

1

Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines.

Hunter AG, Collins JS, Deardorff MA, Krantz ID. Hunter AG, et al. Among authors: collins js. Am J Med Genet A. 2009 Oct;149A(10):2181-92. doi: 10.1002/ajmg.a.33073. Am J Med Genet A. 2009. PMID: 19764039 Free PMC article.

2

Genetic syndromes among individuals with mental retardation.

Stevenson RE, Procopio-Allen AM, Schroer RJ, Collins JS. Stevenson RE, et al. Among authors: collins js. 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

3

The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation.

Maghirang-Rodriguez R, Archie JG, Schwartz CE, Collins JS. Maghirang-Rodriguez R, et al. Among authors: collins js. Am J Med Genet A. 2009 Feb 15;149A(4):622-5. doi: 10.1002/ajmg.a.32721. Am J Med Genet A. 2009. PMID: 19267414

4

Advancing the science of birth defects surveillance, epidemiology, and prevention.

Collins JS, Kirby RS. Collins JS, et al. Birth Defects Res A Clin Mol Teratol. 2008 Nov;82(11):743-4. doi: 10.1002/bdra.20531. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18985683 No abstract available.

5

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS. Sarasua SM, et al. Among authors: collins js. J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7. J Med Genet. 2011. PMID: 21984749

6

Growth in Phelan-McDermid syndrome.

Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS. Rollins JD, et al. Among authors: collins js. Am J Med Genet A. 2011 Sep;155A(9):2324-6. doi: 10.1002/ajmg.a.34158. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834045 No abstract available.

7

Fragile X syndrome detection in newborns-pilot study.

Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS, Schwartz CE, Stevenson RE. Saul RA, et al. Among authors: collins js. Genet Med. 2008 Oct;10(10):714-9. doi: 10.1097/GIM.0b013e3181862a76. Genet Med. 2008. PMID: 18813135 Free article.

8

Timely findings from birth defects surveillance programs.

Collins JS, Kirby RS. Collins JS, et al. J Registry Manag. 2011 Spring;38(1):3. J Registry Manag. 2011. PMID: 22097698 No abstract available.

9

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.

Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K, DuPont BR. Sarasua SM, et al. Among authors: collins js. Genet Med. 2014 Apr;16(4):318-28. doi: 10.1038/gim.2013.144. Epub 2013 Oct 17. Genet Med. 2014. PMID: 24136618 Free article.

10

Birth defects surveillance, epidemiology, and significance in public health.

Collins JS, Kirby RS. Collins JS, et al. Birth Defects Res A Clin Mol Teratol. 2009 Nov;85(11):873. doi: 10.1002/bdra.20636. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19824058 No abstract available.

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