Rupps R - Search Results

1

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: rupps r. 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

2

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

Niederhoffer KY, Peñaherrera M, Pugash D, Rupps R, Arbour L, Tessier F, Choufani S, Zhao C, Manokhina I, Shuman C, Robinson WP, Weksberg R, Boerkoel CF. Niederhoffer KY, et al. Among authors: rupps r. Am J Med Genet A. 2012 Jul;158A(7):1662-9. doi: 10.1002/ajmg.a.35377. Epub 2012 May 21. Am J Med Genet A. 2012. PMID: 22615066

3

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.

Chin HL, O'Neill K, Louie K, Brown L, Schlade-Bartusiak K, Eydoux P, Rupps R, Farahani A, Boerkoel CF, Jones SJM. Chin HL, et al. Among authors: rupps r. Am J Med Genet A. 2021 Aug;185(8):2541-2545. doi: 10.1002/ajmg.a.62349. Epub 2021 May 21. Am J Med Genet A. 2021. PMID: 34018669

4

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: rupps r. 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

5

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

Szafranski P, Coban-Akdemir ZH, Rupps R, Grazioli S, Wensley D, Jhangiani SN, Popek E, Lee AF, Lupski JR, Boerkoel CF, Stankiewicz P. Szafranski P, et al. Among authors: rupps r. Am J Med Genet A. 2016 Sep;170(9):2440-4. doi: 10.1002/ajmg.a.37822. Epub 2016 Jul 4. Am J Med Genet A. 2016. PMID: 27374786

6

Phenotypic evolution of UNC80 loss of function.

Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF. Valkanas E, et al. Among authors: rupps r. Am J Med Genet A. 2016 Dec;170(12):3106-3114. doi: 10.1002/ajmg.a.37929. Epub 2016 Aug 11. Am J Med Genet A. 2016. PMID: 27513830 Free PMC article.

7

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?

Myers A, du Souich C, Yang CL, Borovik L, Mwenifumbo J, Rupps R, Study C, Lehman A, Boerkoel CF. Myers A, et al. Among authors: rupps r. Am J Med Genet A. 2017 Dec;173(12):3172-3181. doi: 10.1002/ajmg.a.38462. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884888

8

Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance.

Mammen C, Rupps R, Trnka P, Boerkoel CF. Mammen C, et al. Among authors: rupps r. Eur J Med Genet. 2012 Feb;55(2):96-8. doi: 10.1016/j.ejmg.2011.12.006. Epub 2011 Dec 30. Eur J Med Genet. 2012. PMID: 22245519

9

Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.

Bruyère H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP. Bruyère H, et al. Among authors: rupps r. Am J Med Genet. 2000 Sep 4;94(1):35-41. doi: 10.1002/1096-8628(20000904)94:1<35::aid-ajmg8>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10982480

10

Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome.

Welinder LG, Robitaille JM, Rupps R, Boerkoel CF, Lyons CJ. Welinder LG, et al. Among authors: rupps r. Ophthalmic Genet. 2015;36(3):276-80. doi: 10.3109/13816810.2015.1016240. Ophthalmic Genet. 2015. PMID: 25945592

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

33 results

Search Page