Eydoux P - Search Results

1

Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S; CAUSES Study; Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. Cho RY, et al. Among authors: eydoux p. Am J Med Genet A. 2020 Mar;182(3):498-503. doi: 10.1002/ajmg.a.61451. Epub 2019 Dec 16. Am J Med Genet A. 2020. PMID: 31840929

2

Possible new variant of Nijmegen breakage syndrome.

Der Kaloustian VM, Kleijer W, Booth A, Auerbach AD, Mazer B, Elliott AM, Abish S, Usher R, Watters G, Vekemans M, Eydoux P. Der Kaloustian VM, et al. Among authors: eydoux p. Am J Med Genet. 1996 Oct 2;65(1):21-6. doi: 10.1002/(SICI)1096-8628(19961002)65:1<21::AID-AJMG3>3.0.CO;2-0. Am J Med Genet. 1996. PMID: 8914736 Review.

3

Deletion of 22q11 in two brothers with different phenotype.

Kasprzak L, Der Kaloustian VM, Elliott AM, Shevell M, Lejtenyi C, Eydoux P. Kasprzak L, et al. Among authors: eydoux p. Am J Med Genet. 1998 Jan 23;75(3):288-91. Am J Med Genet. 1998. PMID: 9475599

4

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.

Lehman AM, du Souich C, Chai D, Eydoux P, Huang JL, Fok AK, Avila L, Swingland J, Delaney AD, McGillivray B, Goldowitz D, Argiropoulos B, Kobor MS, Boerkoel CF. Lehman AM, et al. Among authors: eydoux p. Clin Genet. 2012 Jan;81(1):56-63. doi: 10.1111/j.1399-0004.2010.01615.x. Epub 2011 Jan 19. Clin Genet. 2012. PMID: 21204797

5

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung BY, Langlois S, Yong SL, Lowry RB, Hildebrandt F, Trnka P. Lehman AM, et al. Among authors: eydoux p. Am J Med Genet A. 2010 Jun;152A(6):1411-9. doi: 10.1002/ajmg.a.33416. Am J Med Genet A. 2010. PMID: 20503315 Free PMC article.

6

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies.

Zahir FR, Langlois S, Gall K, Eydoux P, Marra MA, Friedman JM. Zahir FR, et al. Among authors: eydoux p. Am J Med Genet A. 2009 Jun;149A(6):1257-62. doi: 10.1002/ajmg.a.32827. Am J Med Genet A. 2009. PMID: 19449402

7

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

Lehman AM, Friedman JM, Chai D, Zahir FR, Marra MA, Prisman L, Tsang E, Eydoux P, Armstrong L. Lehman AM, et al. Among authors: eydoux p. Eur J Med Genet. 2009 Nov-Dec;52(6):436-9. doi: 10.1016/j.ejmg.2009.09.006. Epub 2009 Sep 17. Eur J Med Genet. 2009. PMID: 19772954

8

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.

Tsang E, Rupps R, McGillivray B, Eydoux P, Marra M, Arbour L, Langlois S, Friedman JM, Zahir FR. Tsang E, et al. Among authors: eydoux p. Am J Med Genet A. 2012 Oct;158A(10):2606-9. doi: 10.1002/ajmg.a.35568. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903878

9

Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p.

Schlade-Bartusiak K, Tucker T, Safavi H, Livingston J, van Allen MI, Eydoux P, Armstrong L. Schlade-Bartusiak K, et al. Among authors: eydoux p. Eur J Med Genet. 2013 May;56(5):229-35. doi: 10.1016/j.ejmg.2013.01.013. Epub 2013 Feb 14. Eur J Med Genet. 2013. PMID: 23416622

10

A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.

Brown LA, Rupps R, Peñaherrera MS, Robinson WP, Patel MS, Eydoux P, Boerkoel CF. Brown LA, et al. Among authors: eydoux p. Am J Med Genet A. 2014 Jun;164A(6):1587-94. doi: 10.1002/ajmg.a.36490. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668696

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