1 - 25 of 37 results for author:"Crow Y." in Literature citations
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| SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutieres syndrome-associated mutations. Goncalves A., Karayel E., Rice G.I., Bennett K.L., Crow Y.J., Superti-Furga G., Burckstummer T. Hum. Mutat. 33:1116-1122(2012) · Mapped (3) |
| Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Anderson B.H., Kasher P.R., Mayer J., Szynkiewicz M., Jenkinson E.M., Bhaskar S.S., Urquhart J.E., Daly S.B., Dickerson J.E., O'Sullivan J. et al. |
| How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Banka S., Veeramachaneni R., Reardon W., Howard E., Bunstone S., Ragge N., Parker M.J., Crow Y.J., Kerr B., Kingston H. et al. Eur. J. Hum. Genet. 20:381-388(2012) · Mapped (5) |
| HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. Goldstone D.C., Ennis-Adeniran V., Hedden J.J., Groom H.C., Rice G.I., Christodoulou E., Walker P.A., Kelly G., Haire L.F., Yap M.W. et al. Nature 480:379-382(2011) · Mapped (3) |
| Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. du Moulin M., Nurnberg P., Crow Y.J., Rutsch F. Proc. Natl. Acad. Sci. U.S.A. 108:E232; author reply 2011:E233-E233(2011) · Mapped (3) |
| Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. Allali S., Le Goff C., Pressac-Diebold I., Pfennig G., Mahaut C., Dagoneau N., Alanay Y., Brady A.F., Crow Y.J., Devriendt K. et al. J. Med. Genet. 48:417-421(2011) · UniProtKB (1) · Mapped (2) |
| Degos disease: a C5b-9/interferon-alpha-mediated endotheliopathy syndrome. Magro C.M., Poe J.C., Kim C., Shapiro L., Nuovo G., Crow M.K., Crow Y.J. Am. J. Clin. Pathol. 135:599-610(2011) · Mapped (10) |
| Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. Banka S., Blom H.J., Walter J., Aziz M., Urquhart J., Clouthier C.M., Rice G.I., de Brouwer A.P., Hilton E., Vassallo G. et al. Am. J. Hum. Genet. 88:216-225(2011) · UniProtKB (1) · Mapped (3) |
| Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Briggs T.A., Rice G.I., Daly S., Urquhart J., Gornall H., Bader-Meunier B., Baskar K., Baskar S., Baudouin V., Beresford M.W. et al. Nat. Genet. 43:127-131(2011) · UniProtKB (1) |
| Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Ravenscroft J.C., Suri M., Rice G.I., Szynkiewicz M., Crow Y.J. Am. J. Med. Genet. A 155:235-237(2011) · UniProtKB (1) · Mapped (2) |
| A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome. Haaxma C.A., Crow Y.J., van Steensel M.A., Lammens M.M., Rice G.I., Verbeek M.M., Willemsen M.A. Am. J. Med. Genet. A 152:2612-2617(2010) · UniProtKB (1) |
| Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. O'Driscoll M.C., Daly S.B., Urquhart J.E., Black G.C., Pilz D.T., Brockmann K., McEntagart M., Abdel-Salam G., Zaki M., Wolf N.I. et al. Am. J. Hum. Genet. 87:354-364(2010) · UniProtKB (1) · Mapped (4) |
| Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Banka S., Chervinsky E., Newman W.G., Crow Y.J., Yeganeh S., Yacobovich J., Donnai D., Shalev S. Eur. J. Hum. Genet. 19:18-22(2011) · Mapped (1) |
| Expanding the clinical spectrum of SLC29A3 gene defects. Spiegel R., Cliffe S.T., Buckley M.F., Crow Y.J., Urquhart J., Horovitz Y., Tenenbaum-Rakover Y., Newman W.G., Donnai D., Shalev S.A. Eur. J. Med. Genet. 53:309-313(2010) · UniProtKB (1) |
| Familial Aicardi-Goutieres syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. Dale R.C., Gornall H., Singh-Grewal D., Alcausin M., Rice G.I., Crow Y.J. Am. J. Med. Genet. A 152A:938-942(2010) · Mapped (3) |
| Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Green P., Wiseman M., Crow Y.J., Houlden H., Riphagen S., Lin J.P., Raymond F.L., Childs A.M., Sheridan E., Edwards S. et al. Am. J. Hum. Genet. 86:485-489(2010) · UniProtKB (1) · Mapped (1) |
| Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Abdollahi M.R., Morrison E., Sirey T., Molnar Z., Hayward B.E., Carr I.M., Springell K., Woods C.G., Ahmed M., Hattingh L. et al. Am. J. Hum. Genet. 85:737-744(2009) · UniProtKB (2) · Mapped (1) |
| Atypical progeroid syndrome due to heterozygous missense LMNA mutations. Garg A., Subramanyam L., Agarwal A.K., Simha V., Levine B., D'Apice M.R., Novelli G., Crow Y. J. Clin. Endocrinol. Metab. 94:4971-4983(2009) · Mapped (11) |
| Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Rice G.I., Bond J., Asipu A., Brunette R.L., Manfield I.W., Carr I.M., Fuller J.C., Jackson R.M., Lamb T., Briggs T.A. et al. |
| Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. Aiello C., Terracciano A., Simonati A., Discepoli G., Cannelli N., Claps D., Crow Y.J., Bianchi M., Kitzmuller C., Longo D. et al. |
| Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Neilson D.E., Adams M.D., Orr C.M.D., Schelling D.K., Eiben R.M., Kerr D.S., Anderson J., Bassuk A.G., Bye A.M., Childs A.-M. et al. Am. J. Hum. Genet. 84:44-51(2009) · UniProtKB (1) · Mapped (2) |
| tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Budde B.S., Namavar Y., Barth P.G., Poll-The B.T., Nuernberg G., Becker C., van Ruissen F., Weterman M.A.J., Fluiter K., te Beek E.T. et al. |
| ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Le Goff C., Morice-Picard F., Dagoneau N., Wang L.W., Perrot C., Crow Y.J., Bauer F., Flori E., Prost-Squarcioni C., Krakow D. et al. Nat. Genet. 40:1119-1123(2008) · UniProtKB (2) · Mapped (11) |
| Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. Childs A.M., Hutchin T., Pysden K., Highet L., Bamford J., Livingston J., Crow Y.J. Neuropediatrics 38:313-316(2007) · Mapped (2) |
| Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection. Crow Y.J., Livingston J.H. Dev Med Child Neurol 50:410-416(2008) · Mapped (4) |