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Items: 1 to 50 of 220

1.

UBE2A-related X-linked intellectual disability.

Stevenson RE, Chudley AE, Srivastava AK, Rodriguez J, Friez MJ, Schwartz CE.

Clin Dysmorphol. 2018 Sep 1. doi: 10.1097/MCD.0000000000000242. [Epub ahead of print]

PMID:
30179896
2.

Response to "A critique for the new Canadian FASD diagnostic Guidelines".

Cook JL, Green CR, Lilley C, Psych R, Anderson S, Baldwin ME, Chudley AE, Conry J, LeBlanc N, Loock CA, Mallon B, McFarlane A, Temple V, Psych C.

J Can Acad Child Adolesc Psychiatry. 2018 Apr;27(2):83-87. Epub 2018 Apr 1. No abstract available.

3.

A global research collaboration on fetal alcohol spectrum disorder.

Medwick H, Chudley AE; team members of the Canada–Israel International Fetal Alcohol Consortium *.

Biochem Cell Biol. 2018 Apr;96(2):vii-viii. doi: 10.1139/bcb-2018-0088. Epub 2018 Apr 10. No abstract available.

PMID:
29634353
4.

Copy number variation in fetal alcohol spectrum disorder.

Zarrei M, Hicks GG, Reynolds JN, Thiruvahindrapuram B, Engchuan W, Pind M, Lamoureux S, Wei J, Wang Z, Marshall CR, Wintle RF, Chudley AE, Scherer SW.

Biochem Cell Biol. 2018 Apr;96(2):161-166. doi: 10.1139/bcb-2017-0241. Epub 2018 Mar 13.

PMID:
29533680
5.

DNA methylation as a predictor of fetal alcohol spectrum disorder.

Lussier AA, Morin AM, MacIsaac JL, Salmon J, Weinberg J, Reynolds JN, Pavlidis P, Chudley AE, Kobor MS.

Clin Epigenetics. 2018 Jan 12;10:5. doi: 10.1186/s13148-018-0439-6. eCollection 2018.

6.

The Manitoba Youth Justice Program: empowering and supporting youth with FASD in conflict with the law.

Longstaffe S, Chudley AE, Harvie MK, Markesteyn T, Neault D, Brown T.

Biochem Cell Biol. 2018 Apr;96(2):260-266. doi: 10.1139/bcb-2017-0078. Epub 2017 Oct 4.

PMID:
28977753
7.

Human Brain Abnormalities Associated With Prenatal Alcohol Exposure and Fetal Alcohol Spectrum Disorder.

Jarmasz JS, Basalah DA, Chudley AE, Del Bigio MR.

J Neuropathol Exp Neurol. 2017 Sep 1;76(9):813-833. doi: 10.1093/jnen/nlx064.

8.

Fetal Alcohol Spectrum Disorder-High Rates, High Needs, High Time for Action.

Chudley AE.

JAMA Pediatr. 2017 Oct 1;171(10):940-941. doi: 10.1001/jamapediatrics.2017.2232. No abstract available.

PMID:
28828475
9.

Diagnosis of fetal alcohol spectrum disorder: current practices and future considerations.

Chudley AE.

Biochem Cell Biol. 2018 Apr;96(2):231-236. doi: 10.1139/bcb-2017-0106. Epub 2017 Jul 26.

PMID:
28746809
10.

DNA methylation signature of human fetal alcohol spectrum disorder.

Portales-Casamar E, Lussier AA, Jones MJ, MacIsaac JL, Edgar RD, Mah SM, Barhdadi A, Provost S, Lemieux-Perreault LP, Cynader MS, Chudley AE, Dubé MP, Reynolds JN, Pavlidis P, Kobor MS.

Epigenetics Chromatin. 2016 Jun 29;9:25. doi: 10.1186/s13072-016-0074-4. eCollection 2016.

11.

Overview of the Genetic Basis and Epigenetic Mechanisms that Contribute to FASD Pathobiology.

Liyanage VR, Curtis K, Zachariah RM, Chudley AE, Rastegar M.

Curr Top Med Chem. 2017;17(7):808-828. Review.

PMID:
27086780
12.

Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure.

Treit S, Zhou D, Chudley AE, Andrew G, Rasmussen C, Nikkel SM, Samdup D, Hanlon-Dearman A, Loock C, Beaulieu C.

PLoS One. 2016 Feb 29;11(2):e0150370. doi: 10.1371/journal.pone.0150370. eCollection 2016.

13.

Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysis.

Popova S, Lange S, Shield K, Mihic A, Chudley AE, Mukherjee RAS, Bekmuradov D, Rehm J.

Lancet. 2016 Mar 5;387(10022):978-987. doi: 10.1016/S0140-6736(15)01345-8. Epub 2016 Jan 6. Review.

PMID:
26777270
14.

Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan.

Cook JL, Green CR, Lilley CM, Anderson SM, Baldwin ME, Chudley AE, Conry JL, LeBlanc N, Loock CA, Lutke J, Mallon BF, McFarlane AA, Temple VK, Rosales T; Canada Fetal Alcohol Spectrum Disorder Research Network.

CMAJ. 2016 Feb 16;188(3):191-7. doi: 10.1503/cmaj.141593. Epub 2015 Dec 14. Review. No abstract available.

15.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium, Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R.

Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002.

16.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA.

Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13.

17.

Response to correspondence on "lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts".

Salman MS, Abumansour IS, Chudley AE, Chodirker BN, Wrogemann J.

J Child Neurol. 2015 Apr;30(5):666. doi: 10.1177/0883073813494478. Review. No abstract available.

PMID:
25805803
18.

Visual search for feature conjunctions: an fMRI study comparing alcohol-related neurodevelopmental disorder (ARND) to ADHD.

O'Conaill CR, Malisza KL, Buss JL, Bolster RB, Clancy C, de Gervai PD, Chudley AE, Longstaffe S.

J Neurodev Disord. 2015;7(1):10. doi: 10.1186/s11689-015-9106-9. Epub 2015 Mar 4.

19.

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK.

Am J Hum Genet. 2015 Jan 8;96(1):121-35. doi: 10.1016/j.ajhg.2014.12.003.

20.

Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis.

Shih F, Yip S, McDonald PJ, Chudley AE, Del Bigio MR.

Acta Neuropathol Commun. 2014 Oct 21;2:140. doi: 10.1186/s40478-014-0140-8.

21.

A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction.

Haberer K, Buffo-Sequeira I, Chudley AE, Spriggs E, Sergi C.

Can J Cardiol. 2014 Oct;30(10):1249.e1-3. doi: 10.1016/j.cjca.2014.05.021. Epub 2014 Jun 12.

PMID:
25262865
22.

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, Farrell S, Bernier FP, Lewis MS, Pavlidis P, Rajcan-Separovic E.

BMC Med Genet. 2014 Jul 16;15:82. doi: 10.1186/1471-2350-15-82.

23.

The differential diagnosis of fetal alcohol spectrum disorder.

Leibson T, Neuman G, Chudley AE, Koren G.

J Popul Ther Clin Pharmacol. 2014;21(1):e1-e30. Epub 2014 Feb 10.

PMID:
24639410
24.

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS.

Am J Hum Genet. 2014 Jan 2;94(1):73-9. doi: 10.1016/j.ajhg.2013.11.010. Epub 2013 Dec 19.

25.

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

Parry DA, Logan CV, Stegmann AP, Abdelhamed ZA, Calder A, Khan S, Bonthron DT, Clowes V, Sheridan E, Ghali N, Chudley AE, Dobbie A, Stumpel CT, Johnson CA.

Am J Hum Genet. 2013 Dec 5;93(6):1135-42. doi: 10.1016/j.ajhg.2013.10.027. Epub 2013 Nov 27. Review.

26.

Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome.

Friesen KJ, Chodirker BN, Chudley AE, Reed MH, Elliott AM.

Springerplus. 2013 Nov 7;2:594. doi: 10.1186/2193-1801-2-594. eCollection 2013.

27.

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

Elliott AM, Simard LR, Coghlan G, Chudley AE, Chodirker BN, Greenberg CR, Burch T, Ly V, Hatch GM, Zelinski T.

J Med Genet. 2013 Dec;50(12):819-22. doi: 10.1136/jmedgenet-2013-101715. Epub 2013 Sep 24.

PMID:
24065355
28.

Use of health, education, and social services by individuals with fetal alcohol spectrum disorder.

Brownell MD, de B Hanlon Dearman AC, Macwilliam LR, Chudley AE, Roos NP, Yallop LP, A Longstaffe SE.

J Popul Ther Clin Pharmacol. 2013;20(2):e95-e106. Epub 2013 Apr 26.

PMID:
23648378
29.

Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.

Abumansour IS, Wrogemann J, Chudley AE, Chodirker BN, Salman MS.

J Child Neurol. 2014 Jun;29(6):860-4. doi: 10.1177/0883073813485637. Epub 2013 Apr 26.

PMID:
23625088
30.

Cost of fetal alcohol spectrum disorder diagnosis in Canada.

Popova S, Lange S, Burd L, Chudley AE, Clarren SK, Rehm J.

PLoS One. 2013 Apr 4;8(4):e60434. doi: 10.1371/journal.pone.0060434. Print 2013.

31.

Comparison of spatial working memory in children with prenatal alcohol exposure and those diagnosed with ADHD; A functional magnetic resonance imaging study.

Malisza KL, Buss JL, Bolster RB, de Gervai PD, Woods-Frohlich L, Summers R, Clancy CA, Chudley AE, Longstaffe S.

J Neurodev Disord. 2012 May 18;4(1):12. doi: 10.1186/1866-1955-4-12.

32.

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA.

Am J Med Genet A. 2012 Aug;158A(8):1865-76. doi: 10.1002/ajmg.a.35415. Epub 2012 Jun 18.

33.

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M; FORGE Canada Consortium, Triggs-Raine B, Zelinski T.

Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.

34.

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Loucks C, Parboosingh JS, Chong JX, Ober C, Siu VM, Hegele RA, Rupar CA, McLeod DR, Pinto A, Chudley AE, Innes AM.

Am J Med Genet A. 2012 May;158A(5):1229-32. doi: 10.1002/ajmg.a.35302. Epub 2012 Apr 11. No abstract available.

35.

Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study.

Vaz SS, Chodirker B, Prasad C, Seabrook JA, Chudley AE, Prasad AN.

Am J Med Genet A. 2012 Apr;158A(4):751-8. doi: 10.1002/ajmg.a.35240. Epub 2012 Mar 14.

PMID:
22419615
36.

Correlates of age at diagnosis of autism spectrum disorders in six Canadian regions.

Coo H, Ouellette-Kuntz H, Lam M, Yu CT, Dewey D, Bernier FP, Chudley AE, Hennessey PE, Breitenbach MM, Noonan AL, Lewis ME, Holden JJ.

Chronic Dis Inj Can. 2012 Mar;32(2):90-100.

37.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM.

Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19.

38.

Functional magnetic resonance imaging of facial information processing in children with autistic disorder, attention deficit hyperactivity disorder and typically developing controls.

Malisza KL, Clancy C, Shiloff D, Holden J, Jones C, Paulson K, Yu DC, Summers R, Chudley AE.

Int J Adolesc Med Health. 2011;23(3):269-77.

PMID:
22191195
39.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.

Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L.

Am J Med Genet A. 2012 Feb;158A(2):391-9. doi: 10.1002/ajmg.a.34216. Epub 2011 Dec 21.

40.

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM.

Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005.

41.

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.

Malenfant P, Liu X, Hudson ML, Qiao Y, Hrynchak M, Riendeau N, Hildebrand MJ, Cohen IL, Chudley AE, Forster-Gibson C, Mickelson EC, Rajcan-Separovic E, Lewis ME, Holden JJ.

J Autism Dev Disord. 2012 Jul;42(7):1459-69. doi: 10.1007/s10803-011-1389-4.

PMID:
22048961
42.

Trends in telehealth versus on-site clinical genetics appointments in Manitoba: a comparative study.

Elliott AM, Mhanni AA, Marles SL, Greenberg CR, Chudley AE, Nyhof GC, Chodirker BN.

J Genet Couns. 2012 Apr;21(2):337-44. doi: 10.1007/s10897-011-9406-5. Epub 2011 Oct 15.

PMID:
21997346
43.

Manitoba Oculotrichoanal Syndrome.

Li C, Slavotinek A, Chudley AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Jul 9 [updated 2011 Oct 13].

44.

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder.

Mhanni AA, Hartley JN, Sanger WG, Chudley AE, Spriggs EL.

Seizure. 2011 Nov;20(9):711-2. doi: 10.1016/j.seizure.2011.06.014. Epub 2011 Jul 19.

45.

2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.

Liu X, Malenfant P, Reesor C, Lee A, Hudson ML, Harvard C, Qiao Y, Persico AM, Cohen IL, Chudley AE, Forster-Gibson C, Rajcan-Separovic E, Lewis ME, Holden JJ.

Eur J Hum Genet. 2011 Dec;19(12):1264-70. doi: 10.1038/ejhg.2011.112. Epub 2011 Jul 13.

46.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M.

J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20.

47.

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.

Del Bigio MR, Chudley AE, Sarnat HB, Campbell C, Goobie S, Chodirker BN, Selcen D.

Ann Neurol. 2011 May;69(5):866-71. doi: 10.1002/ana.22331. Epub 2011 Feb 18.

48.

Research use of leftover newborn bloodspots: attitudes of Canadian geneticists regarding storage and informed consent requirements.

Richer J, Ghebremichael MS, Chudley AE, Robinson WM, Wilfond BS, Solomon MZ.

Genet Med. 2011 Apr;13(4):305-13. doi: 10.1097/GIM.0b013e3181f69da0.

PMID:
20921895
49.

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, McPherson R, Guter SJ, Cook EH Jr, Dawson G, Schellenberg GD, Battaglia A, Maestrini E; Autism Genome Project Consortium, Jeng L, Hutchison T, Rajcan-Separovic E, Chudley AE, Lewis SM, Liu X, Holden JJ, Fernandez B, Zwaigenbaum L, Bryson SE, Roberts W, Szatmari P, Gallagher L, Stratton MR, Gecz J, Brady AF, Schwartz CE, Schachar RJ, Monaco AP, Rouleau GA, Hui CC, Lucy Raymond F, Scherer SW, Vincent JB.

Sci Transl Med. 2010 Sep 15;2(49):49ra68. doi: 10.1126/scitranslmed.3001267.

50.

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

Innes AM, Boycott KM, Puffenberger EG, Redl D, MacDonald IM, Chudley AE, Beaulieu C, Perrier R, Gillan T, Wade A, Parboosingh JS.

Clin Genet. 2010 Nov;78(5):424-31. doi: 10.1111/j.1399-0004.2010.01481.x.

PMID:
20618352

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