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Results: 11

1.

Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome.

Hoekel J, Chisholm SA, Al-Lozi A, Hershey T, Tychsen L; Washington University Wolfram Study Group.

J AAPOS. 2014 Oct;18(5):461-465.e1. doi: 10.1016/j.jaapos.2014.07.162. Epub 2014 Oct 21.

PMID:
25439303
2.

Fabry disease in infancy and early childhood: a systematic literature review.

Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ.

Genet Med. 2014 Sep 18. doi: 10.1038/gim.2014.120. [Epub ahead of print]

PMID:
25232851
3.

Phenotypic characteristics of early Wolfram syndrome.

Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, Viehover A, White NH, Shimony JS, Manwaring L, Austin P, Hullar TE, Hershey T; Washington University Wolfram Study Group.

Orphanet J Rare Dis. 2013 Apr 27;8:64. doi: 10.1186/1750-1172-8-64.

4.

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

Perlman SJ, Kulkarni S, Manwaring L, Shinawi M.

Am J Med Genet A. 2013 Apr;161A(4):711-6. doi: 10.1002/ajmg.a.35779. Epub 2013 Mar 12.

PMID:
23494996
5.

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

Al-Kateb H, Shimony JS, Vineyard M, Manwaring L, Kulkarni S, Shinawi M.

Am J Med Genet A. 2013 Feb;161A(2):377-81. doi: 10.1002/ajmg.a.35650. Epub 2013 Jan 8. No abstract available.

PMID:
23300014
6.

Early brain vulnerability in Wolfram syndrome.

Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, Paciorkowski AR, Eisenstein SA, Permutt MA; Washington University Wolfram Study Group.

PLoS One. 2012;7(7):e40604. doi: 10.1371/journal.pone.0040604. Epub 2012 Jul 11.

7.

Balance impairment in individuals with Wolfram syndrome.

Pickett KA, Duncan RP, Paciorkowski AR, Permutt MA, Marshall B, Hershey T, Earhart GM; Washington University Wolfram Study Group.

Gait Posture. 2012 Jul;36(3):619-24. Epub 2012 Jul 6.

8.

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.

El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW.

J Med Genet. 2011 Dec;48(12):840-50. doi: 10.1136/jmedgenet-2011-100125. Epub 2011 Oct 8.

9.

A novel missense mutation in the MEN1 gene in a patient with multiple endocrine neoplasia type 1.

Hou R, Manwaring LP, Moley JF, Whelan A.

Endocr Pract. 2011 May-Jun;17(3):e63-7. doi: 10.4158/EP10291.CR.

10.

Diffusion-weighted and dynamic contrast-enhanced imaging as markers of clinical behavior in children with optic pathway glioma.

Jost SC, Ackerman JW, Garbow JR, Manwaring LP, Gutmann DH, McKinstry RC.

Pediatr Radiol. 2008 Dec;38(12):1293-9. doi: 10.1007/s00247-008-1003-x. Epub 2008 Oct 10.

11.

Lysosomal storage diseases.

Manwaring LP, Jamerson PA, Slaugh R.

RN. 2008 Jul;71(7):33-7; quiz 38. Review. No abstract available.

PMID:
18720909
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