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Items: 1 to 50 of 77

1.

Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.

Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS.

Eur J Med Genet. 2018 May;61(5):257-261. doi: 10.1016/j.ejmg.2017.12.011. Epub 2017 Dec 24.

PMID:
29278735
2.

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.

Horvath GA, Tarailo-Graovac M, Bartel T, Race S, Van Allen MI, Blydt-Hansen I, Ross CJ, Wasserman WW, Connolly MB, van Karnebeek CDM.

J Child Neurol. 2018 Jan;33(1):106-113. doi: 10.1177/0883073817740443.

PMID:
29246092
3.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM.

Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203.

4.

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB, Datta A, Michoulas A, Adam S, Van Allen MI, Nelson TN, Farrer MJ, Connolly MB, Demos M.

Pediatr Neurol. 2017 Oct;75:87-90. doi: 10.1016/j.pediatrneurol.2017.06.003. Epub 2017 Jun 8.

PMID:
28811059
5.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study, Suri M, Elmslie F; Deciphering Developmental Disorders Study, Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ.

Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004.

6.

Case Series: A Kindred With Eruptive Vellus Hair Cysts and Systemic Features.

Ponzo MG, Van Allen MI, Armstrong L, Martinka M, Dutz JP.

J Cutan Med Surg. 2017 Nov/Dec;21(6):564-567. doi: 10.1177/1203475417719044. Epub 2017 Jun 28.

PMID:
28658971
7.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. No abstract available.

PMID:
28546570
8.

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

Guella I, Huh L, McKenzie MB, Toyota EB, Bebin EM, Thompson ML, Cooper GM, Evans DM, Buerki SE, Adam S, Van Allen MI, Nelson TN, Connolly MB, Farrer MJ, Demos M.

Neurol Genet. 2016 Nov 10;2(6):e120. eCollection 2016 Dec.

9.

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.

10.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23. Erratum in: Nat Genet. 2017 May 26;49(6):969.

11.

Profiling placental and fetal DNA methylation in human neural tube defects.

Price EM, Peñaherrera MS, Portales-Casamar E, Pavlidis P, Van Allen MI, McFadden DE, Robinson WP.

Epigenetics Chromatin. 2016 Feb 16;9:6. doi: 10.1186/s13072-016-0054-8. eCollection 2016.

12.

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, Gibson WT.

Hum Mutat. 2016 Mar;37(3):301-7. doi: 10.1002/humu.22946. Epub 2016 Jan 12.

13.

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Horvath GA, Demos M, Shyr C, Matthews A, Zhang L, Race S, Stockler-Ipsiroglu S, Van Allen MI, Mancarci O, Toker L, Pavlidis P, Ross CJ, Wasserman WW, Trump N, Heales S, Pope S, Cross JH, van Karnebeek CD.

Mol Genet Metab. 2016 Jan;117(1):42-8. doi: 10.1016/j.ymgme.2015.11.008. Epub 2015 Nov 17.

PMID:
26647175
14.

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.

Tucker T, Steinraths M, Oh T, Nelson TN, Van Allen MI, Brown L, Schlade-Bartusiak K.

Clin Dysmorphol. 2016 Apr;25(2):77-81. doi: 10.1097/MCD.0000000000000108. No abstract available.

PMID:
26636500
15.

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
16.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.

Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.

17.

Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension.

Agochukwu NB, Solomon BD, Zajaczkowska-Kielska A, Lyons CJ, Pollock T, Singhal A, Van Allen MI, Muenke M.

Childs Nerv Syst. 2011 Dec;27(12):2183-6. doi: 10.1007/s00381-011-1595-6. Epub 2011 Oct 5. No abstract available.

18.

Sonographic 'molar tooth' sign in the diagnosis of Joubert syndrome.

Pugash D, Oh T, Godwin K, Robinson AJ, Byrne A, Van Allen MI, Osiovich H.

Ultrasound Obstet Gynecol. 2011 Nov;38(5):598-602. doi: 10.1002/uog.8979.

19.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF.

Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004.

20.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG.

Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.

21.

The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders.

Bourque DK, Peñaherrera MS, Yuen RK, Van Allen MI, McFadden DE, Robinson WP.

Clin Genet. 2011 Feb;79(2):169-75. doi: 10.1111/j.1399-0004.2010.01443.x.

PMID:
20507345
22.

Methylation profiling in individuals with Russell-Silver syndrome.

Peñaherrera MS, Weindler S, Van Allen MI, Yong SL, Metzger DL, McGillivray B, Boerkoel C, Langlois S, Robinson WP.

Am J Med Genet A. 2010 Feb;152A(2):347-55. doi: 10.1002/ajmg.a.33204.

PMID:
20082469
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.

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.

du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF.

Am J Med Genet A. 2009 Nov;149A(11):2469-78. doi: 10.1002/ajmg.a.33071.

PMID:
19842190
25.

Spina bifida before and after folic acid fortification in Canada.

De Wals P, Tairou F, Van Allen MI, Lowry RB, Evans JA, Van den Hof MC, Crowley M, Uh SH, Zimmer P, Sibbald B, Fernandez B, Lee NS, Niyonsenga T.

Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):622-6. doi: 10.1002/bdra.20485.

PMID:
18655127
26.

Impact of folic acid food fortification on the birth prevalence of lipomyelomeningocele in Canada.

De Wals P, Van Allen MI, Lowry RB, Evans JA, Van den Hof MC, Crowley M, Tairou F, Uh SH, Sibbald B, Zimmer P, Fernandez B, Lee NS, Niyonsenga T.

Birth Defects Res A Clin Mol Teratol. 2008 Feb;82(2):106-9.

PMID:
18050337
27.

Brain anomalies in encephalocraniocutaneous lipomatosis.

Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB.

Am J Med Genet A. 2007 Dec 15;143A(24):2963-72.

PMID:
18000987
28.

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
29.

Reduction in neural-tube defects after folic acid fortification in Canada.

De Wals P, Tairou F, Van Allen MI, Uh SH, Lowry RB, Sibbald B, Evans JA, Van den Hof MC, Zimmer P, Crowley M, Fernandez B, Lee NS, Niyonsenga T.

N Engl J Med. 2007 Jul 12;357(2):135-42.

30.

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].

31.

The impact of prenatal diagnosis on neural tube defect (NTD) pregnancy versus birth incidence in British Columbia.

Van Allen MI, Boyle E, Thiessen P, McFadden D, Cochrane D, Chambers GK, Langlois S, Stathers P, Irwin B, Cairns E, MacLeod P, Delisle MF, Uh SH.

J Appl Genet. 2006;47(2):151-8.

PMID:
16682757
32.

Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.

Lopez-Rangel E, Van Allen MI.

Birth Defects Res A Clin Mol Teratol. 2005 Nov;73(11):919-23.

PMID:
16265639
33.

Abnormal embryonic development diagnosed embryoscopically in early intrauterine deaths after in vitro fertilization: a preliminary report of 23 cases.

Philipp T, Feichtinger W, Van Allen MI, Separovic E, Reiner A, Kalousek DK.

Fertil Steril. 2004 Nov;82(5):1337-42.

PMID:
15533356
34.

Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.

Stevenson DA, Anaya TM, Clayton-Smith J, Hall BD, Van Allen MI, Zori RT, Zackai EH, Frank G, Clericuzio CL.

Am J Med Genet A. 2004 Jan 15;124A(2):158-64.

PMID:
14699614
35.

Duty to re-contact: a study of families at risk for Fragile X.

Bernard LE, McGillivray B, Van Allen MI, Friedman JM, Langlois S.

J Genet Couns. 1999 Feb;8(1):3-15. No abstract available.

PMID:
11657178
36.

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
37.

Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.

Bernard LE, Peñaherrera MS, Van Allen MI, Wang MS, Yong SL, Gareis F, Langlois S, Robinson WP.

Am J Med Genet. 1999 Nov 26;87(3):230-6.

PMID:
10564876
38.

Health care concerns and guidelines for adults with Down syndrome.

van Allen MI, Fung J, Jurenka SB.

Am J Med Genet. 1999 Jun 25;89(2):100-10.

PMID:
10559765
39.

Folate status, homocysteine metabolism, and methylene tetrahydrofolate reductase genotype in rural South African blacks with a history of pregnancy complicated by neural tube defects.

Ubbink JB, Christianson A, Bester MJ, Van Allen MI, Venter PA, Delport R, Blom HJ, van der Merwe A, Potgieter H, Vermaak WJ.

Metabolism. 1999 Feb;48(2):269-74.

PMID:
10024094
40.

Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.

McFadden DE, Pantzar JT, Van Allen MI, Langlois S.

J Med Genet. 1997 Oct;34(10):846-8.

41.

Dysmorphology in the next millennium: history of medical genetics.

Van Allen MI.

Pediatr Ann. 1997 Sep;26(9):540-5. No abstract available.

PMID:
9302716
42.
43.

Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.

Bernard LE, Chitayat D, Weksberg R, Van Allen MI, Langlois S.

J Med Genet. 1996 May;33(5):432-4.

44.

Additional case of craniofacial and digital anomalies as reported by Harrod et al.

Jurenka SB, Van Allen MI.

Am J Med Genet. 1996 Jan 11;61(2):168-70.

PMID:
8669446
45.

Multisite neural tube closure in humans.

Van Allen MI.

Birth Defects Orig Artic Ser. 1996;30(1):203-25. Review.

PMID:
9125329
46.

Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome?

Jurenka SB, Van Allen MI.

Am J Med Genet. 1995 May 22;57(1):6-9.

PMID:
7645600
47.

Deformations in infants of diabetic and control pregnancies.

Van Allen MI, Brown ZA, Plovie B, Hanson ML, Knopp RH.

Am J Med Genet. 1994 Nov 15;53(3):210-5.

PMID:
7856654
48.

Occurrence of chickenpox during pregnancy in women seropositive for varicella-zoster virus.

Martin KA, Junker AK, Thomas EE, Van Allen MI, Friedman JM.

J Infect Dis. 1994 Oct;170(4):991-5.

PMID:
7930746
49.

"Folate up" for healthy babies.

Van Allen MI.

CMAJ. 1994 Jul 15;151(2):151-4. No abstract available.

50.

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system.

Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, Smith CR, Magee JF, Ritchie S, Toi A, et al.

Am J Med Genet. 1993 Nov 15;47(7):947-58.

PMID:
8291538

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