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Items: 1 to 50 of 94

1.

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.

2.

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM.

Hum Mutat. 2015 Oct;36(10):1015-9. doi: 10.1002/humu.22843. Epub 2015 Aug 17.

3.

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP.

Nat Commun. 2014 Jul 22;5:4483. doi: 10.1038/ncomms5483.

4.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE.

Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3.

5.

Intellectual disability associated with a homozygous missense mutation in THOC6.

Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J; FORGE Canada Consortium, Majewski J, Bulman DE, Parboosingh JS, Boycott KM.

Orphanet J Rare Dis. 2013 Apr 26;8:62. doi: 10.1186/1750-1172-8-62.

6.

Infantile ictal apneas in a child with williams-beuren syndrome.

Myers KA, McLeod DR, Bello-Espinosa L.

Pediatr Neurol. 2013 Feb;48(2):149-51. doi: 10.1016/j.pediatrneurol.2012.10.015.

PMID:
23337011
7.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto M, Yu Z, Stenzel P, Clewing JM, Najafian B, Mayfield C, Hendson G, Weinkauf JG, Gormley AK, Parham DM, Ponniah U, André JL, Asakura Y, Basiratnia M, Bogdanović R, Bokenkamp A, Bonneau D, Buck A, Charrow J, Cochat P, Cordeiro I, Deschenes G, Fenkçi MS, Frange P, Fründ S, Fryssira H, Guillen-Navarro E, Keller K, Kirmani S, Kobelka C, Lamfers P, Levtchenko E, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Saraiva JM, Semerci CN, Shoemaker L, Stajić N, Stein A, Taha D, Wand D, Zonana J, Lücke T, Boerkoel CF.

Orphanet J Rare Dis. 2012 Sep 22;7:70. doi: 10.1186/1750-1172-7-70.

8.

Dental abnormalities in Schimke immuno-osseous dysplasia.

Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai KA, Fenkçi MS, Frange P, Fründ S, Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Olney AH, Semerci CN, Stajic N, Stein A, Taque S, Zonana J, Lücke T, Hendson G, Bonnaure-Mallet M, Boerkoel CF.

J Dent Res. 2012 Jul;91(7 Suppl):29S-37S.

9.

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.

10.

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.

11.

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.

12.

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH.

Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011.

13.

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

Boycott KM, Beaulieu C, Puffenberger EG, McLeod DR, Parboosingh JS, Innes AM.

Am J Med Genet A. 2010 Jun;152A(6):1349-56. doi: 10.1002/ajmg.a.33379.

PMID:
20503307
14.

Familial melanonychia striata.

Leung AK, McLeod DR.

J Natl Med Assoc. 2008 Jun;100(6):743-5.

PMID:
18595581
15.

Dominantly inherited lop ears.

McLeod DR, Leung AK, Kong AY.

Am J Med Genet A. 2008 May 15;146A(10):1368. doi: 10.1002/ajmg.a.32237. No abstract available.

PMID:
18412110
16.

Clinical genetics and the Hutterite population: a review of Mendelian disorders.

Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM.

Am J Med Genet A. 2008 Apr 15;146A(8):1088-98. doi: 10.1002/ajmg.a.32245. Review.

PMID:
18348266
17.

Dominantly-inherited lop ears.

Leung AK, Kong AY, Robson WL, McLeod DR.

Am J Med Genet A. 2007 Oct 1;143A(19):2330-3.

PMID:
17764079
18.

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM.

Am J Med Genet A. 2007 Aug 1;143A(15):1715-25.

PMID:
17603801
19.

Normal physiological emotions but differences in expression of conscious feelings in children with high-functioning autism.

Ben Shalom D, Mostofsky SH, Hazlett RL, Goldberg MC, Landa RJ, Faran Y, McLeod DR, Hoehn-Saric R.

J Autism Dev Disord. 2006 Apr;36(3):395-400.

PMID:
16565884
20.

Effect of worry on regional cerebral blood flow in nonanxious subjects.

Hoehn-Saric R, Lee JS, McLeod DR, Wong DF.

Psychiatry Res. 2005 Dec 30;140(3):259-69. Epub 2005 Nov 16.

PMID:
16297605
21.

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C, McLeod DR, Graham GE, Mangold E, Santer R, Propping P, Friedl W.

Hum Mutat. 2005 Dec;26(6):513-9.

PMID:
16287113
22.

Autosomal recessive cerebellar hypoplasia in the Hutterite population.

Glass HC, Boycott KM, Adams C, Barlow K, Scott JN, Chudley AE, Fujiwara TM, Morgan K, Wirrell E, McLeod DR.

Dev Med Child Neurol. 2005 Oct;47(10):691-5.

23.

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.

Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS.

Am J Hum Genet. 2005 Sep;77(3):477-83. Epub 2005 Jul 22.

24.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP.

J Med Genet. 2006 May;43(5):385-93. Epub 2005 Jul 31.

25.

Autosomal dominant flat umbilicus.

Leung AK, McLeod DR.

Am J Med Genet A. 2004 Dec 15;131(3):307-9.

PMID:
15523632
26.

Somatic symptoms and physiologic responses in generalized anxiety disorder and panic disorder: an ambulatory monitor study.

Hoehn-Saric R, McLeod DR, Funderburk F, Kowalski P.

Arch Gen Psychiatry. 2004 Sep;61(9):913-21.

PMID:
15351770
27.

Bowen-Conradi syndrome: a clinical and genetic study.

Lowry RB, Innes AM, Bernier FP, McLeod DR, Greenberg CR, Chudley AE, Chodirker B, Marles SL, Crumley MJ, Loredo-Osti JC, Morgan K, Fujiwara TM.

Am J Med Genet A. 2003 Jul 30;120A(3):423-8.

PMID:
12838567
28.

Physiological arousal in females with fragile X or Turner syndrome.

Keysor CS, Mazzocco MM, McLeod DR, Hoehn-Saric R.

Dev Psychobiol. 2002 Sep;41(2):133-46.

PMID:
12209655
29.

Cenani-Lenz syndrome: report of a new case and review of the literature.

Nezarati MM, McLeod DR.

Clin Dysmorphol. 2002 Jul;11(3):215-8. Review.

PMID:
12072805
30.

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, Ferrell RE, Rubinstein WS.

J Med Genet. 2002 Mar;39(3):178-83.

31.

Acute hemorrhagic leukoencephalitis in male sibs.

McLeod DR, Snyder F, Bridge P, Pinto A.

Am J Med Genet. 2002 Feb 1;107(4):325-9.

PMID:
11840490
32.

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW.

Nat Genet. 2002 Feb;30(2):215-20. Epub 2002 Jan 22.

PMID:
11799392
33.

Cerebral blood flow in obsessive-compulsive patients with major depression: effect of treatment with sertraline or desipramine on treatment responders and non-responders.

Hoehn-Saric R, Schlaepfer TE, Greenberg BD, McLeod DR, Pearlson GD, Wong SH.

Psychiatry Res. 2001 Nov 30;108(2):89-100.

PMID:
11738543
34.

Features within the holoprosencephaly spectrum in sibs with a Robertsonian (14q;22q) translocation chromosome.

Kamnasaran D, Gerritsen JA, McLeod DR, Cox DW.

Clin Genet. 2001 Sep;60(3):237-9. No abstract available.

PMID:
11595027
35.

Combination of renal agenesis with respiratory and alimentary tract atresia results in normal lung development.

McLeod DR, Akierman A, Trevenen C.

Am J Med Genet. 2001 Sep 1;102(4):327-9.

PMID:
11503159
36.

Anxiety and arousal: physiological changes and their perception.

Hoehn-Saric R, McLeod DR.

J Affect Disord. 2000 Dec;61(3):217-24. Review.

PMID:
11163423
37.

Therapeutic effects of imipramine are counteracted by its metabolite, desipramine, in patients with generalized anxiety disorder.

McLeod DR, Hoehn-Saric R, Porges SW, Kowalski PA, Clark CM.

J Clin Psychopharmacol. 2000 Dec;20(6):615-21.

PMID:
11106132
38.

Disseminated bacille Calmette-Guérin infection in an infant with a novel deletion in the interferon-gamma receptor gene.

Cunningham JA, Kellner JD, Bridge PJ, Trevenen CL, Mcleod DR, Davies HD.

Int J Tuberc Lung Dis. 2000 Aug;4(8):791-4.

PMID:
10949334
39.

Relative timing of inspiration and expiration affects respiratory sinus arrhythmia.

Strauss-Blasche G, Moser M, Voica M, McLeod DR, Klammer N, Marktl W.

Clin Exp Pharmacol Physiol. 2000 Aug;27(8):601-6.

PMID:
10901389
40.

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

Boerkoel CF, O'Neill S, André JL, Benke PJ, Bogdanovíć R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Fründ S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormälä T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R.

Eur J Pediatr. 2000 Jan-Feb;159(1-2):1-7.

PMID:
10653321
41.

Polytopic anomalies with agenesis of the lower vertebral column.

Bohring A, Lewin SO, Reynolds JF, Voigtländer T, Rittinger O, Carey JC, Köpernik M, Smith R, Zackai EH, Leonard NJ, Gritter HL, Bamforth JS, Okun N, McLeod DR, Super M, Powell P, Mundlos S, Hennekam RC, van Langen IM, Viskochil DH, Wiedemann HR, Opitz JM.

Am J Med Genet. 1999 Nov 19;87(2):99-114. Review.

PMID:
10533024
42.

VACTERL manifestations in two generations of a family.

Nezarati MM, McLeod DR.

Am J Med Genet. 1999 Jan 1;82(1):40-2.

PMID:
9916841
43.

Increased heart rate in depressed subjects in spite of unchanged autonomic balance?

Moser M, Lehofer M, Hoehn-Saric R, McLeod DR, Hildebrandt G, Steinbrenner B, Voica M, Liebmann P, Zapotoczky HG.

J Affect Disord. 1998 Mar;48(2-3):115-24.

PMID:
9543200
44.

Does muscle tension reflect arousal? Relationship between electromyographic and electroencephalographic recordings.

Hoehn-Saric R, Hazlett RL, Pourmotabbed T, McLeod DR.

Psychiatry Res. 1997 Jun 16;71(1):49-55.

PMID:
9247981
45.

Treatment, discontinuation, and psychomotor effects of diazepam in women with generalized anxiety disorder.

Pourmotabbed T, Mcleod DR, Hoehn-Saric R, Hipsley P, Greenblatt DJ.

J Clin Psychopharmacol. 1996 Jun;16(3):202-7.

PMID:
8784650
46.

Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain.

Pitkanen S, Merante F, McLeod DR, Applegarth D, Tong T, Robinson BH.

Pediatr Res. 1996 Mar;39(3):513-21.

PMID:
8929874
47.

Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay.

Bernier FP, Snyder FF, McLeod DR.

J Inherit Metab Dis. 1996;19(3):367-8. No abstract available.

PMID:
8803782
49.
50.

Muscle tension in generalized anxiety disorder: elevated muscle tonus or agitated movement?

Hazlett RL, McLeod DR, Hoehn-Saric R.

Psychophysiology. 1994 Mar;31(2):189-95.

PMID:
8153255

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