Laffin J - Search Results

1

Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.

Legare JM, Seaborg K, Laffin J, Giampietro PF. Legare JM, et al. Among authors: laffin j. Am J Med Genet A. 2017 Oct;173(10):2808-2813. doi: 10.1002/ajmg.a.38395. Epub 2017 Aug 17. Am J Med Genet A. 2017. PMID: 28815954

2

MECP2 duplication: possible cause of severe phenotype in females.

Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF. Scott Schwoerer J, et al. Among authors: laffin j. Am J Med Genet A. 2014 Apr;164A(4):1029-34. doi: 10.1002/ajmg.a.36380. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458799

3

Phenotype of FOXP2 haploinsufficiency in a mother and son.

Rice GM, Raca G, Jakielski KJ, Laffin JJ, Iyama-Kurtycz CM, Hartley SL, Sprague RE, Heintzelman AT, Shriberg LD. Rice GM, et al. Among authors: laffin jj. Am J Med Genet A. 2012 Jan;158A(1):174-81. doi: 10.1002/ajmg.a.34354. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106036 Free PMC article.

4

Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.

Thorson L, Bryke C, Rice G, Artzer A, Schilz C, Israel J, Huber S, Laffin J, Raca G. Thorson L, et al. Among authors: laffin j. Am J Med Genet A. 2010 Apr;152A(4):904-15. doi: 10.1002/ajmg.a.33340. Am J Med Genet A. 2010. PMID: 20358600

5

Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.

Schutte BC, Basart AM, Watanabe Y, Laffin JJ, Coppage K, Bjork BC, Daack-Hirsch S, Patil S, Dixon MJ, Murray JC. Schutte BC, et al. Among authors: laffin jj. Am J Med Genet. 1999 May 21;84(2):145-50. doi: 10.1002/(sici)1096-8628(19990521)84:2<145::aid-ajmg11>3.0.co;2-l. Am J Med Genet. 1999. PMID: 10323740

6

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.

Laffin JJ, Raca G, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD. Laffin JJ, et al. Genet Med. 2012 Nov;14(11):928-36. doi: 10.1038/gim.2012.72. Epub 2012 Jul 5. Genet Med. 2012. PMID: 22766611 Free PMC article.

7

Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth.

Raca G, Artzer A, Thorson L, Huber S, Modaff P, Laffin J, Pauli RM. Raca G, et al. Among authors: laffin j. Am J Med Genet A. 2009 Nov;149A(11):2437-43. doi: 10.1002/ajmg.a.33083. Am J Med Genet A. 2009. PMID: 19876905

8

The advantage of using SNP array in clinical testing for hematological malignancies--a comparative study of three genetic testing methods.

Xu X, Johnson EB, Leverton L, Arthur A, Watson Q, Chang FL, Raca G, Laffin JJ. Xu X, et al. Among authors: laffin jj. Cancer Genet. 2013 Sep-Oct;206(9-10):317-26. doi: 10.1016/j.cancergen.2013.09.001. Epub 2013 Oct 24. Cancer Genet. 2013. PMID: 24269304

9

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD. Raca G, et al. Among authors: laffin jj. Eur J Hum Genet. 2013 Apr;21(4):455-9. doi: 10.1038/ejhg.2012.165. Epub 2012 Aug 22. Eur J Hum Genet. 2013. PMID: 22909774 Free PMC article.

10

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.

Worthey EA, Raca G, Laffin JJ, Wilk BM, Harris JM, Jakielski KJ, Dimmock DP, Strand EA, Shriberg LD. Worthey EA, et al. Among authors: laffin jj. J Neurodev Disord. 2013 Oct 2;5(1):29. doi: 10.1186/1866-1955-5-29. J Neurodev Disord. 2013. PMID: 24083349 Free PMC article.

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