Crow YJ - Search Results

1

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud J, Roberts E, Stephenson JB, Woods CG, Lebon P. Crow YJ, et al. J Med Genet. 2003 Mar;40(3):183-7. doi: 10.1136/jmg.40.3.183. J Med Genet. 2003. PMID: 12624136 Free PMC article.

2

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM. Mitchison HM, et al. Among authors: crow yj. Hum Mol Genet. 1998 Feb;7(2):291-7. doi: 10.1093/hmg/7.2.291. Hum Mol Genet. 1998. PMID: 9425237

3

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

Crow YJ, Zuberi SM, McWilliam R, Tolmie JL, Hollman A, Pohl K, Stephenson JB. Crow YJ, et al. J Med Genet. 1998 Feb;35(2):94-8. doi: 10.1136/jmg.35.2.94. J Med Genet. 1998. PMID: 9507386 Free PMC article.

4

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.

Munroe PB, Greene ND, Leung KY, Mole SE, Gardiner RM, Mitchison HM, Stephenson JB, Crow YJ. Munroe PB, et al. Among authors: crow yj. J Med Genet. 1998 Sep;35(9):790. doi: 10.1136/jmg.35.9.790. J Med Genet. 1998. PMID: 9733046 Free PMC article. No abstract available.

5

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG. Crow YJ, et al. Am J Hum Genet. 2000 Jul;67(1):213-21. doi: 10.1086/302955. Epub 2000 May 25. Am J Hum Genet. 2000. PMID: 10827106 Free PMC article.

6

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, Roberts E, Woods CG. Pattison L, et al. Among authors: crow yj. Am J Hum Genet. 2000 Dec;67(6):1578-80. doi: 10.1086/316910. Epub 2000 Nov 7. Am J Hum Genet. 2000. PMID: 11078481 Free PMC article.

7

A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

Henwood J, Pickard C, Leek JP, Bennett CP, Crow YJ, Thompson JD, Ahmed M, Watterson KG, Parsons JM, Roberts E, Lench NJ. Henwood J, et al. Among authors: crow yj. J Med Genet. 2001 Aug;38(8):533-6. doi: 10.1136/jmg.38.8.533. J Med Genet. 2001. PMID: 11494964 Free PMC article. No abstract available.

8

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.

Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A, Woods CG. Hampshire DJ, et al. J Med Genet. 2001 Oct;38(10):680-2. doi: 10.1136/jmg.38.10.680. J Med Genet. 2001. PMID: 11584046 Free PMC article.

9

Identification of microcephalin, a protein implicated in determining the size of the human brain.

Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG. Jackson AP, et al. Among authors: crow yj. Am J Hum Genet. 2002 Jul;71(1):136-42. doi: 10.1086/341283. Epub 2002 Jun 3. Am J Hum Genet. 2002. PMID: 12046007 Free PMC article.

10

ASPM is a major determinant of cerebral cortical size.

Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG. Bond J, et al. Among authors: crow yj. Nat Genet. 2002 Oct;32(2):316-20. doi: 10.1038/ng995. Epub 2002 Sep 23. Nat Genet. 2002. PMID: 12355089

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

309 results

Search Page

Filters