Rimoin DL - Search Results

1

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.

Pariani MJ, Spencer A, Graham JM Jr, Rimoin DL. Pariani MJ, et al. Among authors: rimoin dl. Eur J Med Genet. 2009 Mar-Jun;52(2-3):123-7. doi: 10.1016/j.ejmg.2009.03.012. Epub 2009 Mar 28. Eur J Med Genet. 2009. PMID: 19332160 Free PMC article.

2

Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.

Elliott AM, Graham JM Jr, Curry CJ, Pal T, Rimoin DL, Lachman RS. Elliott AM, et al. Among authors: rimoin dl. Am J Med Genet. 2002 Dec 15;113(4):351-61. doi: 10.1002/ajmg.b.10656. Am J Med Genet. 2002. PMID: 12457407

3

Genetic screening in the Persian Jewish community: A pilot study.

Kaback M, Lopatequi J, Portuges AR, Quindipan C, Pariani M, Salimpour-Davidov N, Rimoin DL. Kaback M, et al. Among authors: rimoin dl. Genet Med. 2010 Oct;12(10):628-33. doi: 10.1097/GIM.0b013e3181edef5b. Genet Med. 2010. PMID: 20733503 Free article.

4

Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.

Reinstein E, Pariani M, Lachman RS, Nemec S, Rimoin DL. Reinstein E, et al. Among authors: rimoin dl. Am J Med Genet A. 2012 Apr;158A(4):938-41. doi: 10.1002/ajmg.a.35261. Epub 2012 Mar 14. Am J Med Genet A. 2012. PMID: 22419391 Free PMC article. No abstract available.

5

Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature.

Reinstein E, Pimentel M, Pariani M, Nemec S, Sokol T, Rimoin DL. Reinstein E, et al. Among authors: rimoin dl. Eur J Med Genet. 2012 Oct;55(10):548-51. doi: 10.1016/j.ejmg.2012.06.012. Epub 2012 Jul 7. Eur J Med Genet. 2012. PMID: 22781752 Free PMC article. Review.

6

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.

Reinstein E, Pariani M, Bannykh S, Rimoin DL, Schievink WI. Reinstein E, et al. Among authors: rimoin dl. Eur J Hum Genet. 2013 Apr;21(4):386-90. doi: 10.1038/ejhg.2012.191. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929030 Free PMC article.

7

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

Reinstein E, Frentz S, Morgan T, García-Miñaúr S, Leventer RJ, McGillivray G, Pariani M, van der Steen A, Pope M, Holder-Espinasse M, Scott R, Thompson EM, Robertson T, Coppin B, Siegel R, Bret Zurita M, Rodríguez JI, Morales C, Rodrigues Y, Arcas J, Saggar A, Horton M, Zackai E, Graham JM, Rimoin DL, Robertson SP. Reinstein E, et al. Among authors: rimoin dl. Eur J Hum Genet. 2013 May;21(5):494-502. doi: 10.1038/ejhg.2012.209. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032111 Free PMC article.

8

Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genes.

Shohat M, Herman V, Melmed S, Neufeld N, Schreck R, Pulst S, Graham JM Jr, Rimoin DL, Korenberg JR. Shohat M, et al. Among authors: rimoin dl. Am J Med Genet. 1991 Apr 1;39(1):56-63. doi: 10.1002/ajmg.1320390113. Am J Med Genet. 1991. PMID: 1867266

9

Syndromes associated with growth deficiency.

Rimoin DL, Graham JM Jr. Rimoin DL, et al. Acta Paediatr Scand Suppl. 1989;349:3-10. doi: 10.1111/j.1651-2227.1989.tb17159.x. Acta Paediatr Scand Suppl. 1989. PMID: 2665419 Review. No abstract available.

10

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.

Vatanavicharn N, Graham JM Jr, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR. Vatanavicharn N, et al. Among authors: rimoin dl. Am J Med Genet A. 2007 Oct 1;143A(19):2292-302. doi: 10.1002/ajmg.a.31934. Am J Med Genet A. 2007. PMID: 17764081

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