1 - 25 of 30 results for author:"Haan E." in Literature citations
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| PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Heron S.E., Grinton B.E., Kivity S., Afawi Z., Zuberi S.M., Hughes J.N., Pridmore C., Hodgson B.L., Iona X., Sadleir L.G. et al. Am. J. Hum. Genet. 90:152-160(2012) · UniProtKB (1) |
| CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. School of Medicine, University of California, Los Angeles, CA, USA. Voineagu I., Huang L., Winden K., Lazaro M., Haan E., Nelson J., McGaughran J., Nguyen L.S., Friend K., Hackett A. et al. |
| TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Andreucci E., Aftimos S., Alcausin M., Haan E., Hunter W., Kannu P., Kerr B., McGillivray G., McKinlay Gardner R.J., Patricelli M.G. et al. Orphanet J Rare Dis 6:37-37(2011) · Mapped (1) |
| Fetal MBL2 haplotypes combined with viral exposure are associated with adverse pregnancy outcomes. Gibson C.S., Maclennan A.H., Haan E.A., Priest K., Dekker G.A. J. Matern. Fetal. Neonatal. Med. 24:847-854(2011) · Mapped (3) |
| Osteopathia striata with cranial sclerosis owing to WTX gene defect. Perdu B., de Freitas F., Frints S.G., Schouten M., Schrander-Stumpel C., Barbosa M., Pinto-Basto J., Reis-Lima M., de Vernejoul M.C., Becker K. et al. J. Bone Miner. Res. 25:82-90(2010) · Mapped (1) |
| Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Hynes K., Tarpey P., Dibbens L.M., Bayly M.A., Berkovic S.F., Smith R., Raisi Z.A., Turner S.J., Brown N.J., Desai T.D. et al. J. Med. Genet. 47:211-216(2010) · UniProtKB (1) · Mapped (2) |
| Genetic susceptibility to viral exposure may increase the risk of cerebral palsy. Djukic M., Gibson C.S., Maclennan A.H., Goldwater P.N., Haan E.A., McMichael G., Priest K., Dekker G.A., Hague W.M., Chan A. et al. Aust N Z J Obstet Gynaecol 49:247-253(2009) · Mapped (13) |
| SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. Spurlock G., Bennett E., Chuzhanova N., Thomas N., Jim H.P., Side L., Davies S., Haan E., Kerr B., Huson S.M. et al. J. Med. Genet. 46:431-437(2009) · UniProtKB (1) |
| Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. Ghalamkarpour A., Debauche C., Haan E., Van Regemorter N., Sznajer Y., Thomas D., Revencu N., Gillerot Y., Boon L.M., Vikkula M. J. Pediatr. 155:90-93(2009) · Mapped (5) |
| A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Tarpey P.S., Smith R., Pleasance E., Whibley A., Edkins S., Hardy C., O'Meara S., Latimer C., Dicks E., Menzies A. et al. |
| The genomic basis of cerebral palsy: a HuGE systematic literature review. O'Callaghan M.E., MacLennan A.H., Haan E.A., Dekker G. Hum. Genet. 126:149-172(2009) · Mapped (160) |
| Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population. McMichael G.L., Gibson C.S., Goldwater P.N., Haan E.A., Priest K., Dekker G.A., MacLennan A.H. Hum. Genet. 124:411-416(2008) · Mapped (5) |
| X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Dibbens L.M., Tarpey P.S., Hynes K., Bayly M.A., Scheffer I.E., Smith R., Bomar J., Sutton E., Vandeleur L., Shoubridge C. et al. |
| Mannose-binding lectin haplotypes may be associated with cerebral palsy only after perinatal viral exposure. Gibson C.S., MacLennan A.H., Goldwater P.N., Haan E.A., Priest K., Dekker G.A. Am. J. Obstet. Gynecol. 198:509.e1-8(2008) · Mapped (3) |
| An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Upadhyaya M., Huson S.M., Davies M., Thomas N., Chuzhanova N., Giovannini S., Evans D.G., Howard E., Kerr B., Griffiths S. et al. Am. J. Hum. Genet. 80:140-151(2007) · Mapped (10) |
| FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. Ades L.C., Sullivan K., Biggin A., Haan E.A., Brett M., Holman K.J., Dixon J., Robertson S., Holmes A.D., Rogers J. et al. Am. J. Med. Genet. A 140:1047-1058(2006) · UniProtKB (1) |
| The association between inherited cytokine polymorphisms and cerebral palsy. Gibson C.S., MacLennan A.H., Goldwater P.N., Haan E.A., Priest K., Dekker G.A. Am. J. Obstet. Gynecol. 194:674.e1-11(2006) · Mapped (9) |
| SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. Pountney D.L., Huang Y., Burns R.J., Haan E., Thompson P.D., Blumbergs P.C., Gai W.P. Exp. Neurol. 184:436-446(2003) · Mapped (3) |
| X-linked myotubular myopathy in a family with three adult survivors. Yu S., Manson J., White S., Bourne A., Waddy H., Davis M., Haan E. Clin. Genet. 64:148-152(2003) · UniProtKB (1) |
| Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Kalscheuer V.M., Tao J., Donnelly A., Hollway G., Schwinger E., Kuebart S., Menzel C., Hoeltzenbein M., Tommerup N., Eyre H. et al. Am. J. Hum. Genet. 72:1401-1411(2003) · UniProtKB (1) · Mapped (1) |
| Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Davis M.R., Haan E., Jungbluth H., Sewry C., North K., Muntoni F., Kuntzer T., Lamont P., Bankier A., Tomlinson P. et al. Neuromuscul. Disord. 13:151-157(2003) · UniProtKB (1) · Mapped (5) |
| New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Cox T.C., Allen L.R., Cox L.L., Hopwood B., Goodwin B., Haan E., Suthers G.K. Hum. Mol. Genet. 9:2553-2562(2000) · UniProtKB (1) |
| Acampomelic campomelic dysplasia with SOX9 mutation. Thong M.-K., Scherer G., Kozlowski K., Haan E., Morris L. Am. J. Med. Genet. 93:421-425(2000) · UniProtKB (1) |
| A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Donnelly A., Haan E., Manson J., Mulley J. Hum. Mutat. 11:334-334(1998) · Mapped (5) |
| A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV. Bateman J.F., Chiodo A.A., Weng Y.M., Chan D., Haan E. Hum. Mutat. Suppl. 1:S257-S259(1998) · UniProtKB (1) |