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Items: 1 to 50 of 76

1.

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.

Lee JJY, van Karnebeek CDM, Drögemoller B, Shyr C, Tarailo-Graovac M, Eydoux P, Ross CJ, Wasserman WW, Björnson B, Wu JK.

Child Neurol Open. 2016 Sep 26;3:2329048X16669912. doi: 10.1177/2329048X16669912. eCollection 2016 Jan-Dec.

2.

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

Niederhoffer KY, Fahiminiya S, Eydoux P, Mawson J, Nishimura G, Jerome-Majewska LA, Patel MS.

Am J Med Genet A. 2016 Sep;170(9):2310-21. doi: 10.1002/ajmg.a.37831. Epub 2016 Jul 4.

PMID:
27375131
3.

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD.

N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25.

4.

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.

5.

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.

Zong Z, Tees S, Miyanji F, Fauth C, Reilly C, Lopez E, Tredwell S, Paul Goldberg Y, Delaney A, Eydoux P, Van Allen M, Lehman A.

J Hum Genet. 2015 Dec;60(12):743-7. doi: 10.1038/jhg.2015.116. Epub 2015 Oct 15.

PMID:
26467725
6.

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

Lehman A, Stittrich AB, Glusman G, Zong Z, Li H, Eydoux P, Senger C, Lyons C, Roach JC, Patel M.

Am J Med Genet A. 2014 Oct;164A(10):2656-62. doi: 10.1002/ajmg.a.36685. Epub 2014 Aug 4.

7.

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT.

Am J Med Genet A. 2014 Sep;164A(9):2360-4. doi: 10.1002/ajmg.a.36622. Epub 2014 Jun 5.

8.

Duplication of AKT3 is associated with macrocephaly and speech delay.

Chung BK, Eydoux P, Van Karnebeek CD, Gibson WT.

Am J Med Genet A. 2014 Jul;164A(7):1868-9. doi: 10.1002/ajmg.a.36521. Epub 2014 Apr 3. No abstract available.

PMID:
24700746
9.

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
10.

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S.

Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13.

11.

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Tucker T, Zahir FR, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra M, Eydoux P, Langlois S, Hamdan FF, Michaud JL, Friedman JM.

Eur J Hum Genet. 2014 Jun;22(6):792-800. doi: 10.1038/ejhg.2013.248. Epub 2013 Nov 20.

12.

The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations.

Potter KJ, Creighton S, Armstrong L, Eydoux P, Duncan W, Penny DJ, Fan Y, Gibson WT.

Mol Syndromol. 2013 Mar;4(3):125-35. doi: 10.1159/000347163. Epub 2013 Feb 28.

13.

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.

Eur J Med Genet. 2013 May;56(5):229-35. doi: 10.1016/j.ejmg.2013.01.013. Epub 2013 Feb 14.

PMID:
23416622
14.

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
15.

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1).

Schlade-Bartusiak K, Brown L, Lomax B, Bruyère H, Gillan T, Hamilton S, McGillivray B, Eydoux P.

Am J Med Genet A. 2012 Sep;158A(9):2322-7. doi: 10.1002/ajmg.a.35516. Epub 2012 Aug 6.

PMID:
22887799
16.

Possible differentiation of cerebral glioblastoma into pleomorphic xanthoastrocytoma: an unusual case in an infant.

Yang MM, Singhal A, Rassekh SR, Yip S, Eydoux P, Dunham C.

J Neurosurg Pediatr. 2012 May;9(5):517-23. doi: 10.3171/2012.1.PEDS11326.

PMID:
22546030
17.

Uniparental disomy: can SNP array data be used for diagnosis?

Tucker T, Schlade-Bartusiak K, Eydoux P, Nelson TN, Brown L.

Genet Med. 2012 Apr 26. doi: 10.1038/gim.2012.35. [Epub ahead of print]

PMID:
22538256
18.

Mutations in EZH2 cause Weaver syndrome.

Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium, Chitayat D, Boycott KM, Weaver DD, Jones SJ.

Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15.

19.

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.

Schrader KA, Heravi-Moussavi A, Waters PJ, Senz J, Whelan J, Ha G, Eydoux P, Nielsen T, Gallagher B, Oloumi A, Boyd N, Fernandez BA, Young TL, Jones SJ, Hirst M, Shah SP, Marra MA, Green J, Huntsman DG.

J Pathol. 2011 Sep;225(1):12-8. doi: 10.1002/path.2941.

PMID:
21792934
20.

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.

Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP, Delaney A, Eydoux P, Lam WL, Langlois S, Lemyre E, Marra M, Qian H, Rouleau GA, Vincent D, Michaud JL, Friedman JM.

BMC Med Genomics. 2011 Mar 25;4:25. doi: 10.1186/1755-8794-4-25.

21.

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.

Clin Genet. 2012 Jan;81(1):56-63. doi: 10.1111/j.1399-0004.2010.01615.x. Epub 2011 Jan 19.

PMID:
21204797
22.

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.

Am J Med Genet A. 2010 Jun;152A(6):1411-9. doi: 10.1002/ajmg.a.33416.

23.

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.

Friedman J, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibson WT, Langlois S, Lemyre E, Li HI, MacLeod P, Mathers J, Michaud JL, McGillivray BC, Patel MS, Qian H, Rouleau GA, Van Allen MI, Yong SL, Zahir FR, Eydoux P, Marra MA.

BMC Genomics. 2009 Nov 16;10:526. doi: 10.1186/1471-2164-10-526.

24.

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.

Eur J Med Genet. 2009 Nov-Dec;52(6):436-9. doi: 10.1016/j.ejmg.2009.09.006. Epub 2009 Sep 17.

PMID:
19772954
25.

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.

Am J Med Genet A. 2009 Jun;149A(6):1257-62. doi: 10.1002/ajmg.a.32827.

PMID:
19449402
26.

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients.

Wang JC, Dang L, Lomax B, Turner L, Shago M, Teebi AS, Klatt R, MacLeod PM, Yong SL, Nowaczyk MJ, Eydoux P.

Am J Med Genet A. 2009 Mar;149A(3):372-9. doi: 10.1002/ajmg.a.32675.

PMID:
19213033
27.

A 5-Mb microdeletion at 6q16.1-q16.3 with SIM gene deletion and obesity.

Wang JC, Turner L, Lomax B, Eydoux P.

Am J Med Genet A. 2008 Nov 15;146A(22):2975-8. doi: 10.1002/ajmg.a.32555. No abstract available.

PMID:
18925680
28.

Inverted duplication with terminal deletion of 5p and no cat-like cry.

Wang JC, Coe BP, Lomax B, MacLeod PM, Parslow MI, Schein JE, Lam WL, Eydoux P.

Am J Med Genet A. 2008 May 1;146A(9):1173-9. doi: 10.1002/ajmg.a.32246.

PMID:
18266247
29.

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.

Zahir FR, Baross A, Delaney AD, Eydoux P, Fernandes ND, Pugh T, Marra MA, Friedman JM.

J Med Genet. 2008 Apr;45(4):239-43. Epub 2007 Dec 5.

PMID:
18057082
30.

Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.

Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI.

Am J Med Genet A. 2007 Dec 15;143A(24):2931-6.

PMID:
17955513
31.

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data.

Baross A, Delaney AD, Li HI, Nayar T, Flibotte S, Qian H, Chan SY, Asano J, Ally A, Cao M, Birch P, Brown-John M, Fernandes N, Go A, Kennedy G, Langlois S, Eydoux P, Friedman JM, Marra MA.

BMC Bioinformatics. 2007 Oct 2;8:368.

32.

Neonatal macrocephaly: cerebral primitive neuroectodermal tumor or neuroblastoma as an infrequent cause--a case report and review of the literature.

Kaczala GW, Poskitt KJ, Steinbok P, Hendson G, Eydoux P, Solimano AJ.

Am J Perinatol. 2007 Oct;24(9):507-9. Epub 2007 Oct 1. Review.

PMID:
17909991
33.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.

Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM.

J Med Genet. 2007 Sep;44(9):556-61. Epub 2007 Jun 1.

34.

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.

Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJ, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA.

Am J Hum Genet. 2006 Sep;79(3):500-13. Epub 2006 Jul 25. Erratum in: Am J Hum Genet. 2006 Dec;79(6):1135. Armstrong, Linlea [added].

35.

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.

Leary SC, Mattman A, Wai T, Koehn DC, Clarke LA, Chan S, Lomax B, Eydoux P, Vallance HD, Shoubridge EA.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):129-33. Epub 2006 Jun 9.

PMID:
16765077
36.

Heart defects and other malformations in the Inuit in Canada: a baseline study.

Arbour L, Gilpin C, Millor-Roy V, Platt R, Pekeles G, Egeland GM, Hodgins S, Eydoux P.

Int J Circumpolar Health. 2004 Sep;63(3):251-66.

PMID:
15526929
37.

How can the genetic risks of embryo donation be minimized? Proposed guidelines of the French Federation of CECOS (Centre d'Etude et de Conservation des Oeufs et du Sperme).

Eydoux P, Thepot F, Fellmann F, Francannet C, Simon-Bouy B, Jouannet P, Bresson JL, Siffroi JP; Commission de Génétique de la Fédération Française des CECOS.

Hum Reprod. 2004 Aug;19(8):1685-8. Epub 2004 Jun 10. Review.

PMID:
15192062
38.

Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.

Borie C, Léger J, Dupuy O, Hassan M, Ledu N, Lebbar A, Czernichow P, Eydoux P.

Am J Med Genet A. 2004 Mar 1;125A(2):186-90.

PMID:
14981722
39.

Etiology and outcome of fetal echogenic bowel. Ten years of experience.

Kesrouani AK, Guibourdenche J, Muller F, Denamur E, Vuillard E, Garel C, Delezoide AL, Eydoux P, Tachdjian G, Lebon P, de Lagausie P, Sibony O, Bauman C, Oury JF, Luton D.

Fetal Diagn Ther. 2003 Jul-Aug;18(4):240-6.

PMID:
12835583
40.

Isolated non-compaction of the myocardium diagnosed in the fetus: two sporadic and two familial cases.

Moura C, Hillion Y, Daikha-Dahmane F, Eydoux P, Fallet C, Oury JF, Azancot A.

Cardiol Young. 2002 May;12(3):278-83.

PMID:
12365176
41.

[Isolated antenatal pyelic dilatation: postnatal follow-up and care for vesico-ureteral reflux].

De Spirlet M, Lottmann HB, Omnès S, Voluménie JL, Sibony O, Vuillard E, Blot P, Eydoux P, Aigrain Y, Oury JF, Luton D.

J Gynecol Obstet Biol Reprod (Paris). 2002 Feb;31(1 Suppl):2S56-63. French.

PMID:
11973521
42.

Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis.

Elghezal H, Le Guyader G, Radford-Weiss I, Perot C, Van Den Akker J, Eydoux P, Vekemans M, Romana SP.

Genes Chromosomes Cancer. 2001 Apr;30(4):383-92.

PMID:
11241791
43.

Characterization of four novel epithelial ovarian cancer cell lines.

Provencher DM, Lounis H, Champoux L, Tétrault M, Manderson EN, Wang JC, Eydoux P, Savoie R, Tonin PN, Mes-Masson AM.

In Vitro Cell Dev Biol Anim. 2000 Jun;36(6):357-61. No abstract available.

PMID:
10949993
44.

[Clinical spectrum of prenatal tetralogy of Fallot].

Azancot A, Eydoux P, Vuillard E, Cusin V, Baumann C, Blot P.

Arch Mal Coeur Vaiss. 2000 May;93(5):587-93. French.

PMID:
10858857
45.

Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1).

Collins KA, Eydoux P, Duncan AM, Ortenberg J, Silver K, Der Kaloustian VM.

Am J Med Genet. 2000 Apr 24;91(5):345-7.

PMID:
10766995
46.

Trisomy of chromosome 10 in two cases of ovarian carcinoma.

Wang J, Mes-Masson AM, Tonin PN, Provencher D, Eydoux P.

Cancer Genet Cytogenet. 2000 Apr 1;118(1):65-8.

PMID:
10731594
47.

Cytogenetic aspects of the Canadian early and mid-trimester amniotic fluid trial (CEMAT).

Winsor EJ, Tomkins DJ, Kalousek D, Farrell S, Wyatt P, Fan YS, Carter R, Wang H, Dallaire L, Eydoux P, Welch JP, Dawson A, Lin JC, Singer J, Johnson J, Wilson RD.

Prenat Diagn. 1999 Jul;19(7):620-7.

PMID:
10419609
48.

Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation.

Daïkha-Dahmane F, Huten Y, Morvan J, Szpiro-Tapia S, Nessmann C, Eydoux P.

Am J Med Genet. 1998 Dec 28;80(5):514-7.

PMID:
9880219
49.

Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

Teebi AS, Miller S, Ostrer H, Eydoux P, Colomb-Brockmann C, Oudjhane K, Watters G.

J Med Genet. 1998 Sep;35(9):759-62.

50.

Bone dysplasias: an introduction.

Azouz EM, Teebi AS, Eydoux P, Chen MF, Fassier F.

Can Assoc Radiol J. 1998 Apr;49(2):105-9. Review.

PMID:
9561013

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