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Items: 30

1.

Familial impairment of vocal cord mobility in childhood with clubfoot.

Shaw R, Dias C, Ludemann J, Rupps R, Tsai V, Lehman A.

Clin Dysmorphol. 2018 Oct;27(4):116-121. doi: 10.1097/MCD.0000000000000227.

PMID:
29912011
2.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D.

J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29.

PMID:
29599419
3.

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.

Am J Med Genet A. 2017 Dec;173(12):3172-3181. doi: 10.1002/ajmg.a.38462. Epub 2017 Sep 8.

PMID:
28884888
4.

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.

Am J Med Genet A. 2016 Dec;170(12):3106-3114. doi: 10.1002/ajmg.a.37929. Epub 2016 Aug 11.

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.

Am J Med Genet A. 2016 Sep;170(9):2440-4. doi: 10.1002/ajmg.a.37822. Epub 2016 Jul 4.

PMID:
27374786
6.

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.

Maduro V, Pusey BN, Cherukuri PF, Atkins P, du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, Links AE, Lehman A, Malicdan MC, Mason CE, Morimoto M, Mullikin JC, Sear A, Van Karnebeek C, Stankiewicz P, Gahl WA, Toro C, Boerkoel CF.

Orphanet J Rare Dis. 2016 May 14;11(1):62. doi: 10.1186/s13023-016-0439-6.

7.

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

Welinder LG, Robitaille JM, Rupps R, Boerkoel CF, Lyons CJ.

Ophthalmic Genet. 2015;36(3):276-80. doi: 10.3109/13816810.2015.1016240.

PMID:
25945592
8.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT.

Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14.

PMID:
25131214
9.

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.

Dias C, Rupps R, Millar B, Choi K, Marra M, Demos M, Kratz LE, Boerkoel CF.

Orphanet J Rare Dis. 2014 Jun 25;9:94. doi: 10.1186/1750-1172-9-94.

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.

Am J Med Genet A. 2014 Jun;164A(6):1587-94. doi: 10.1002/ajmg.a.36490. Epub 2014 Mar 25.

PMID:
24668696
11.

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES 3rd, Kollmann TR, Demos M, Friedman JM, Speert DP, Gahl WA, Boerkoel CF.

Eur J Hum Genet. 2013 Nov;21(11):1232-9. doi: 10.1038/ejhg.2013.20. Epub 2013 Feb 27.

12.

Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?

Rupps R, Hukin J, Balicki M, Mercimek-Mahmutoglu S, Rolfs A, Dias C.

J Child Neurol. 2013 Nov;28(11):1500-1504. Epub 2012 Sep 10.

PMID:
22965561
13.

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.

Am J Med Genet A. 2012 Oct;158A(10):2606-9. doi: 10.1002/ajmg.a.35568. Epub 2012 Aug 17.

PMID:
22903878
14.

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC, Hilhorst-Hofstee Y, Ruivenkamp CA, Van Esch H, Addor MC, Martinet D, Mason TB, Clark D, Spinner NB, Krantz ID.

Am J Med Genet A. 2012 Sep;158A(9):2152-61. doi: 10.1002/ajmg.a.35574. Epub 2012 Jul 27.

15.

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.

Am J Med Genet A. 2012 Jul;158A(7):1662-9. doi: 10.1002/ajmg.a.35377. Epub 2012 May 21.

PMID:
22615066
16.

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF.

Hum Mutat. 2012 Apr;33(4):614-26. doi: 10.1002/humu.22032. Epub 2012 Feb 28.

17.

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

Mammen C, Rupps R, Trnka P, Boerkoel CF.

Eur J Med Genet. 2012 Feb;55(2):96-8. doi: 10.1016/j.ejmg.2011.12.006. Epub 2011 Dec 30.

PMID:
22245519
18.

Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome?

Vassel J, Rupps R, Krakow D, Puvanachandra N, Gardiner JA, Lazeo SR, Boerkoel CF.

Clin Dysmorphol. 2010 Oct;19(4):175-80. doi: 10.1097/MCD.0b013e3283398730. No abstract available.

PMID:
20717009
19.

Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.

Chou A, Boerkoel C, du Souich C, Rupps R.

Clin Genet. 2009 Aug;76(2):214-8. doi: 10.1111/j.1399-0004.2009.01206.x. Epub 2009 Aug 7. Review. No abstract available.

PMID:
19673952
20.

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.

Arbour L, Rezazadeh S, Eldstrom J, Weget-Simms G, Rupps R, Dyer Z, Tibbits G, Accili E, Casey B, Kmetic A, Sanatani S, Fedida D.

Genet Med. 2008 Jul;10(7):545-50. doi: 10.1097GIM.0b013e31817c6b19.

PMID:
18580685
21.

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K.

Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006.

22.

Congenital heart defects in Canadian Inuit: is more folic acid making a difference?

Arbour L, Rupps R, MacDonald S, Forth M, Yang J, Nowdluk M, Osborne G.

Alaska Med. 2007;49(2 Suppl):163-6.

PMID:
17929627
23.

Recurrent trisomy 21: four cases in three generations.

Gair JL, Arbour L, Rupps R, Jiang R, Bruyère H, Robinson WP.

Clin Genet. 2005 Nov;68(5):430-5.

PMID:
16207210
24.

Characteristics of primary biliary cirrhosis in British Columbia's First Nations population.

Arbour L, Rupps R, Field L, Ross P, Erikson A, Henderson H, Hill W, Yoshida E.

Can J Gastroenterol. 2005 May;19(5):305-10.

PMID:
15915245
25.

Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.

Ford B, Rupps R, Lirenman D, Van Allen MI, Farquharson D, Lyons C, Friedman JM.

Am J Med Genet. 2001 Mar 1;99(2):137-41.

PMID:
11241473
26.

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.

Am J Med Genet. 2000 Sep 4;94(1):35-41.

PMID:
10982480
27.

Skeletal and cardiac malformations with thrombocytopenia: a new syndrome?

Rupps R, Elliott AM, Azouz EM, Bernstein ML, Kaplan P, Eydoux P, Der Kaloustian VM.

Am J Med Genet. 1996 Aug 23;64(3):497-500.

PMID:
8862629
28.
29.

Increased permeability of lymphatic trunks draining granulomas.

Carr J, Carr I, Rupps R.

J Reticuloendothel Soc. 1980 Sep;28(3):295-303. No abstract available.

PMID:
7411542
30.

[Early development of schizophrenic patients. An anamnestic study (author's transl)].

Keppler K, Lempp R, Paschedag D, Rebmann HE, Rupps R.

Nervenarzt. 1979 Nov;50(11):719-24. German. No abstract available.

PMID:
575405

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