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Items: 12

1.

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Twigg SR, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M, Zaragkoulias A, Sadighi Akha E, Knight SJ, Lord H, Lester T, Izatt L, Lampe AK, Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P, Hughes J, Taylor S, Johnson D, Wall SA, Mavrothalassitis G, Wilkie AO.

Nat Genet. 2013 Mar;45(3):308-13. doi: 10.1038/ng.2539. Epub 2013 Jan 27.

2.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO.

Hum Mol Genet. 2013 Apr 15;22(8):1654-62. doi: 10.1093/hmg/ddt015. Epub 2013 Jan 17.

3.

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, Cader MZ, Hughes S, Armstrong RJ, Kanapin A, Rimmer A, Lunter G, Mathieson I, Cazier JB, Buck D, Taylor JC, Bentley D, McVean G, Donnelly P, Knight SJ, Jackson M, Ragoussis J, Németh AH.

PLoS Genet. 2012;8(12):e1003074. doi: 10.1371/journal.pgen.1003074. Epub 2012 Dec 6.

4.

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.

Newbury DF, Mari F, Sadighi Akha E, Macdermot KD, Canitano R, Monaco AP, Taylor JC, Renieri A, Fisher SE, Knight SJ.

Eur J Hum Genet. 2013 Apr;21(4):361-5. doi: 10.1038/ejhg.2012.166. Epub 2012 Aug 22. No abstract available.

5.

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

Pagnamenta AT, Murray JE, Yoon G, Sadighi Akha E, Harrison V, Bicknell LS, Ajilogba K, Stewart H, Kini U, Taylor JC, Keays DA, Jackson AP, Knight SJ.

Am J Med Genet A. 2012 Oct;158A(10):2577-82. doi: 10.1002/ajmg.a.35558. Epub 2012 Aug 10.

6.

Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia.

Knight SJ, Yau C, Clifford R, Timbs AT, Sadighi Akha E, Dréau HM, Burns A, Ciria C, Oscier DG, Pettitt AR, Dutton S, Holmes CC, Taylor J, Cazier JB, Schuh A.

Leukemia. 2012 Jul;26(7):1564-75. doi: 10.1038/leu.2012.13. Epub 2012 Jan 19.

7.

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.

Pagnamenta AT, Lise S, Harrison V, Stewart H, Jayawant S, Quaghebeur G, Deng AT, Murphy VE, Sadighi Akha E, Rimmer A, Mathieson I, Knight SJ, Kini U, Taylor JC, Keays DA.

J Hum Genet. 2012 Jan;57(1):70-2. doi: 10.1038/jhg.2011.128. Epub 2011 Dec 1.

PMID:
22129557
8.

The autophagy protein Atg7 is essential for hematopoietic stem cell maintenance.

Mortensen M, Soilleux EJ, Djordjevic G, Tripp R, Lutteropp M, Sadighi-Akha E, Stranks AJ, Glanville J, Knight S, Jacobsen SE, Kranc KR, Simon AK.

J Exp Med. 2011 Mar 14;208(3):455-67. doi: 10.1084/jem.20101145. Epub 2011 Feb 21.

9.

A 15q13.3 microdeletion segregating with autism.

Pagnamenta AT, Wing K, Sadighi Akha E, Knight SJ, Bölte S, Schmötzer G, Duketis E, Poustka F, Klauck SM, Poustka A, Ragoussis J, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium.

Eur J Hum Genet. 2009 May;17(5):687-92. doi: 10.1038/ejhg.2008.228. Epub 2008 Dec 3.

10.

Interferon regulatory factor-1 polymorphisms are associated with the control of Plasmodium falciparum infection.

Mangano VD, Luoni G, Rockett KA, Sirima BS, Konaté A, Forton J, Clark TG, Bancone G, Sadighi Akha E, Kwiatkowski DP, Modiano D.

Genes Immun. 2008 Mar;9(2):122-9. doi: 10.1038/sj.gene.6364456. Epub 2008 Jan 17. Erratum in: Genes Immun. 2008 Jul;9(5):482. Akha, E S [corrected to Sadighi Akha, E].

11.

Population-specific patterns of linkage disequilibrium in the human 5q31 region.

Luoni G, Forton J, Jallow M, Sadighi Akha E, Sisay-Joof F, Pinder M, Hanchard N, Herbert M, Kimber M, Mott R, Hull J, Rockett K, Kwiatkowski D.

Genes Immun. 2005 Dec;6(8):723-7.

PMID:
16052173
12.

The accuracy of the Neosono Ultima EZ apex locator using files of different alloys: an in vitro study.

Nekoofar MH, Sadeghi K, Sadighi Akha E, Namazikhah MS.

J Calif Dent Assoc. 2002 Sep;30(9):681-4.

PMID:
12365847

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