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Items: 1 to 50 of 70

1.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study, Devriendt K, Breckpot J.

Eur J Hum Genet. 2018 Oct 5. doi: 10.1038/s41431-018-0281-5. [Epub ahead of print]

PMID:
30291340
2.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM.

Genet Med. 2018 Sep 24. doi: 10.1038/s41436-018-0290-3. [Epub ahead of print]

PMID:
30245510
3.

Refining the phenotype associated with biallelic DNAJC21 mutations.

D'Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R, Alos N, Leblanc T, Capri Y, Nizard S, Lemyre E, Michaud JL, Pelletier VA, Pastore YD, Soucy JF.

Clin Genet. 2018 Aug;94(2):252-258. doi: 10.1111/cge.13370. Epub 2018 Jun 7.

PMID:
29700810
4.

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.

Huguet G, Schramm C, Douard E, Jiang L, Labbe A, Tihy F, Mathonnet G, Nizard S, Lemyre E, Mathieu A, Poline JB, Loth E, Toro R, Schumann G, Conrod P, Pausova Z, Greenwood C, Paus T, Bourgeron T, Jacquemont S; IMAGEN Consortium.

JAMA Psychiatry. 2018 May 1;75(5):447-457. doi: 10.1001/jamapsychiatry.2018.0039.

PMID:
29562078
5.

NUP98-BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy.

Roussy M, Bilodeau M, Jouan L, Tibout P, Laramée L, Lemyre E, Léveillé F, Tihy F, Cardin S, Sauvageau C, Couture F, Louis I, Choblet A, Patey N, Gendron P, Duval M, Teira P, Hébert J, Wilhelm BT, Choi JK, Gruber TA, Bittencourt H, Cellot S.

Genes Chromosomes Cancer. 2018 Jun;57(6):311-319. doi: 10.1002/gcc.22532. Epub 2018 Mar 28.

PMID:
29427526
6.

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF.

Hum Mol Genet. 2018 Feb 15;27(4):589-600. doi: 10.1093/hmg/ddx426.

PMID:
29267967
7.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, Nizard S, Fraser WD, Audibert F, Lemyre E, Rouleau GA, Hamdan FF, Kibar Z, Michaud JL.

Genet Med. 2018 Jul;20(7):745-753. doi: 10.1038/gim.2017.173. Epub 2017 Oct 26.

PMID:
29261186
8.

Genetic Testing in a Cohort of Complex Esophageal Atresia.

Beauregard-Lacroix E, Tardif J, Lemyre E, Kibar Z, Faure C, Campeau PM.

Mol Syndromol. 2017 Aug;8(5):236-243. doi: 10.1159/000477429. Epub 2017 Jun 16.

9.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

10.

Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses.

Beauregard-Lacroix E, Tardif J, Camurri MV, Lemyre E, Barchi S, Parent S, Campeau PM.

Spine (Phila Pa 1976). 2017 Jul 15;42(14):E841-E847. doi: 10.1097/BRS.0000000000001983.

PMID:
27879578
11.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

12.

Iron-Refractory Iron Deficiency Anemia May Not Lead to Neurocognitive Dysfunction: A Case Report.

Arsenault V, Mailloux C, Bonnefoy A, Lemyre E, Pastore Y.

Pediatrics. 2016 Jul;138(1). pii: e20153608. doi: 10.1542/peds.2015-3608.

13.

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.

Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW.

Sci Rep. 2016 Jul 1;6:28663. doi: 10.1038/srep28663.

14.

Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions.

Bardai G, Lemyre E, Moffatt P, Palomo T, Glorieux FH, Tung J, Ward L, Rauch F.

Calcif Tissue Int. 2016 Jan;98(1):76-84.

PMID:
26478226
15.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL.

Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17.

16.

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV.

Eur J Hum Genet. 2016 Apr;24(4):535-41. doi: 10.1038/ejhg.2015.155. Epub 2015 Jul 1.

17.

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.

D'Amours G, Langlois M, Mathonnet G, Fetni R, Nizard S, Srour M, Tihy F, Phillips MS, Michaud JL, Lemyre E.

BMC Med Genomics. 2014 Dec 24;7:70. doi: 10.1186/s12920-014-0070-0.

18.

Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literature.

Maftei C, Rypens F, Thiffault I, Dubé J, Laberge AM, Lemyre E.

Prenat Diagn. 2015 Mar;35(3):305-7. doi: 10.1002/pd.4518. Epub 2014 Nov 19. Review. No abstract available.

PMID:
25346098
19.

Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.

Chetaille P, Preuss C, Burkhard S, Côté JM, Houde C, Castilloux J, Piché J, Gosset N, Leclerc S, Wünnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D; FORGE Canada Consortium, Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G.

Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5.

PMID:
25282101
20.

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.

Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ.

J Neurodev Disord. 2014;6(1):9. doi: 10.1186/1866-1955-6-9. Epub 2014 Apr 22.

21.

The genetic landscape of infantile spasms.

Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E.

Hum Mol Genet. 2014 Sep 15;23(18):4846-58. doi: 10.1093/hmg/ddu199. Epub 2014 Apr 29.

PMID:
24781210
22.

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.

23.

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R.

Hum Genet. 2014 Mar;133(3):321-30. doi: 10.1007/s00439-013-1379-z. Epub 2013 Oct 24.

PMID:
24154661
24.

Successful desensitization in a type VI mucopolysaccharidosis patient with probable IgE-mediated allergy to galsulfase [Naglazyme].

Bégin P, Chapdelaine H, Lemyre E, Paradis L, Des Roches A.

Ann Allergy Asthma Immunol. 2013 Jan;110(1):55-6. doi: 10.1016/j.anai.2012.10.006. Epub 2012 Nov 8. No abstract available.

PMID:
23244660
25.

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.

Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME.

Arch Gen Psychiatry. 2012 Dec;69(12):1238-46. doi: 10.1001/archgenpsychiatry.2012.660.

26.

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL.

J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25.

PMID:
23012439
27.

Rare copy number variants contribute to congenital left-sided heart disease.

Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, Overduin B, Klaassen S, Hoodless P, Awadalla P, Hussin J, Idaghdour Y, Nemer M, Stewart AF, Boerkoel C, Scherer SW, Richter A, Dubé MP, Andelfinger G.

PLoS Genet. 2012 Sep;8(9):e1002903. doi: 10.1371/journal.pgen.1002903. Epub 2012 Sep 6. Erratum in: PLoS Genet. 2013 Mar;9(3). doi: 10.1371/annotation/8bc63544-9ed4-42ca-a830-e8058ab13bab. Awadalla, Philip [added]; Hussin, Julie [added]; Idaghdour, Youssef [added].

28.

Multidisciplinary management of a hepatic and renal transplant patient with Alagille syndrome.

Maisonneuve E, Morin F, Crochetière C, Lemyre E, Bigras JL, Leduc L, Girardin C, Bilodeau M.

Int J Obstet Anesth. 2012 Oct;21(4):382-3. doi: 10.1016/j.ijoa.2012.08.003. Epub 2012 Sep 5. No abstract available.

PMID:
22959070
29.

Correlation of intercentromeric distance, mosaicism, and sexual phenotype: molecular localization of breakpoints in isodicentric Y chromosomes.

Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N.

Am J Med Genet A. 2011 Nov;155A(11):2705-12. doi: 10.1002/ajmg.a.34260. Epub 2011 Sep 30.

PMID:
21964771
30.

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.

D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Désilets V, Nizard S, Michaud JL, Lemyre E.

Clin Genet. 2012 Feb;81(2):128-41. doi: 10.1111/j.1399-0004.2011.01687.x. Epub 2011 May 16.

PMID:
21496010
31.

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.

32.

Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.

De Bie I, Lemyre E, Lambert M.

JIMD Rep. 2011;1:83-8. doi: 10.1007/8904_2011_21. Epub 2011 Jun 22.

33.

Identification of new susceptibility regions for X;Y translocations in patients with testicular disorder of sex development.

Beaulieu Bergeron M, Lemyre E, Lemieux N.

Sex Dev. 2011;5(1):1-6. doi: 10.1159/000321995. Epub 2010 Nov 17.

PMID:
21088380
34.

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Li SC, Chen CM, Goldstein JL, Wu JY, Lemyre E, Burrow TA, Kang PB, Chen YT, Bali DS.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S83-90. doi: 10.1007/s10545-009-9026-5. Epub 2010 Jan 8.

PMID:
20058079
35.

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.

36.

Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype.

Girardin CM, Deal C, Lemyre E, Paquette J, Lumbroso R, Beitel LK, Trifiro MA, Van Vliet G.

J Pediatr. 2009 Sep;155(3):439-43. doi: 10.1016/j.jpeds.2009.02.052.

PMID:
19732585
37.

Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signs.

Girardin CM, Lemyre E, Alos N, Deal C, Huot C, Van Vliet G.

Horm Res. 2009;72(2):98-105. doi: 10.1159/000232162. Epub 2009 Aug 18.

PMID:
19690427
38.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z.

Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25.

39.

Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia.

Beaulieu Bergeron M, Lemyre E, Rypens F, Scherer G, Lemieux N, Fournet JC.

Prenat Diagn. 2009 May;29(5):528-30. doi: 10.1002/pd.2187. No abstract available.

PMID:
19253311
40.

Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1.

Levchenko A, Montplaisir JY, Asselin G, Provost S, Girard SL, Xiong L, Lemyre E, St-Onge J, Thibodeau P, Desautels A, Turecki G, Gaspar C, Dubé MP, Rouleau GA.

Mov Disord. 2009 Jan 15;24(1):40-50. doi: 10.1002/mds.22263.

PMID:
18946881
41.

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B.

Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799.

42.

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC.

Am J Hum Genet. 2008 Mar;82(3):712-22. doi: 10.1016/j.ajhg.2008.01.011. Erratum in: Am J Hum Genet. 2008 Sep;83(3):425-7.

43.

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA.

Eur J Hum Genet. 2008 Jan;16(1):28-35. Epub 2007 Oct 31.

44.

Catch me if you can: tracking down the genetic origins of congenital heart disease.

Lemyre E, Andelfinger G.

Eur Heart J. 2007 Nov;28(22):2701-2. Epub 2007 Oct 25. No abstract available.

PMID:
17965008
45.

Specific language impairment as the prominent feature in a patient with a low-level trisomy 21 mosaicism.

Paoloni-Giacobino A, Lemieux N, Lemyre E, Lespinasse J.

J Intellect Disabil Res. 2007 May;51(Pt 5):401-5.

PMID:
17391256
46.

Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations.

Gignac J, Danis K, Tihy F, Lemyre E.

Am J Med Genet A. 2006 Dec 15;140(24):2768-75.

PMID:
17103433
47.

Dynamic increase of a 45,X cell line in a patient with multicentric ring Y chromosomes.

DesGroseilliers M, Fortin F, Lafrenière AM, Brochu P, Lemyre E, Lemieux N.

Cytogenet Genome Res. 2006;115(1):90-3.

PMID:
16974088
48.

Phenotypic variability in isodicentric Y patients: study of nine cases.

DesGroseilliers M, Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N.

Clin Genet. 2006 Aug;70(2):145-50.

PMID:
16879197
49.

Familial deletion 18p syndrome: case report.

Maranda B, Lemieux N, Lemyre E.

BMC Med Genet. 2006 Jul 14;7:60.

50.

Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus.

Beaulieu Bergeron M, Tran-Thanh D, Fournet JC, Lemyre E, Lemieux N, Bouron-Dal Soglio D.

Am J Med Genet A. 2006 Aug 15;140(16):1768-72.

PMID:
16835917

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