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Items: 1 to 50 of 60

1.

GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes.

Abramovs N, Brass A, Tassabehji M.

Nat Genet. 2020 Jan;52(1):35-39. doi: 10.1038/s41588-019-0560-2. Epub 2019 Dec 23.

PMID:
31873297
2.

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation.

Witkos TM, Chan WL, Joensuu M, Rhiel M, Pallister E, Thomas-Oates J, Mould AP, Mironov AA, Biot C, Guerardel Y, Morelle W, Ungar D, Wieland FT, Jokitalo E, Tassabehji M, Kornak U, Lowe M.

Nat Commun. 2019 Jan 10;10(1):127. doi: 10.1038/s41467-018-08044-6.

3.

Functional basic reading skills in Williams syndrome.

Brawn G, Kohnen S, Tassabehji M, Porter M.

Dev Neuropsychol. 2018;43(5):454-477. doi: 10.1080/87565641.2018.1455838. Epub 2018 Mar 30.

PMID:
29601225
4.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.

Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20.

PMID:
26206081
5.

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.

Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M.

J Med Genet. 2014 Oct;51(10):635-45. doi: 10.1136/jmedgenet-2014-102476. Epub 2014 Aug 12. Review.

PMID:
25118188
6.

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.

Broadbent H, Farran EK, Chin E, Metcalfe K, Tassabehji M, Turnpenny P, Sansbury F, Meaburn E, Karmiloff-Smith A.

J Neurodev Disord. 2014;6(1):18. doi: 10.1186/1866-1955-6-18. Epub 2014 Jul 15.

7.

Opposite effects on facial morphology due to gene dosage sensitivity.

Hammond P, McKee S, Suttie M, Allanson J, Cobben JM, Maas SM, Quarrell O, Smith AC, Lewis S, Tassabehji M, Sisodiya S, Mattina T, Hennekam R.

Hum Genet. 2014 Sep;133(9):1117-25. doi: 10.1007/s00439-014-1455-z. Epub 2014 Jun 3.

8.

Rapamycin inhibits smooth muscle cell proliferation and obstructive arteriopathy attributable to elastin deficiency.

Li W, Li Q, Qin L, Ali R, Qyang Y, Tassabehji M, Pober BR, Sessa WC, Giordano FJ, Tellides G.

Arterioscler Thromb Vasc Biol. 2013 May;33(5):1028-35. doi: 10.1161/ATVBAHA.112.300407. Epub 2013 Mar 14.

PMID:
23493289
9.

A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.

Porter MA, Dobson-Stone C, Kwok JB, Schofield PR, Beckett W, Tassabehji M.

PLoS One. 2012;7(10):e47457. doi: 10.1371/journal.pone.0047457. Epub 2012 Oct 31.

10.

Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patients.

Karmiloff-Smith A, Broadbent H, Farran EK, Longhi E, D'Souza D, Metcalfe K, Tassabehji M, Wu R, Senju A, Happé F, Turnpenny P, Sansbury F.

Front Psychol. 2012 May 30;3:168. doi: 10.3389/fpsyg.2012.00168. eCollection 2012.

11.

Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.

Schneider T, Skitt Z, Liu Y, Deacon RM, Flint J, Karmiloff-Smith A, Rawlins JN, Tassabehji M.

Behav Brain Res. 2012 Aug 1;233(2):458-73. doi: 10.1016/j.bbr.2012.05.014. Epub 2012 May 28.

PMID:
22652393
12.

DNA copy number variations at chromosome 7p14.1 and chromosome 14q11.2 are associated with dupuytren's disease: potential role for MMP and Wnt signaling pathway.

Shih B, Tassabehji M, Watson JS, Bayat A.

Plast Reconstr Surg. 2012 Apr;129(4):921-32. doi: 10.1097/PRS.0b013e3182442343.

PMID:
22183494
13.

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G.

Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.

14.

Claudin 13, a member of the claudin family regulated in mouse stress induced erythropoiesis.

Thompson PD, Tipney H, Brass A, Noyes H, Kemp S, Naessens J, Tassabehji M.

PLoS One. 2010 Sep 10;5(9). pii: e12667. doi: 10.1371/journal.pone.0012667.

15.

Genome-wide high-resolution screening in Dupuytren's disease reveals common regions of DNA copy number alterations.

Shih BB, Tassabehji M, Watson JS, McGrouther AD, Bayat A.

J Hand Surg Am. 2010 Jul;35(7):1172-1183.e7. doi: 10.1016/j.jhsa.2010.03.006. Epub 2010 Jun 19.

PMID:
20561756
16.

Inefficient search of large-scale space in Williams syndrome: further insights on the role of LIMK1 deletion in deficits of spatial cognition.

Smith AD, Gilchrist ID, Hood B, Tassabehji M, Karmiloff-Smith A.

Perception. 2009;38(5):694-701.

PMID:
19662944
17.

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.

Newman WG, Clayton-Smith J, Metcalfe K, Cole R, Tartaglia M, Brancati F, Morara S, Novelli A, Liu X, Siminovitch KA, Mundlos S, Tassabehji M, Black GC.

Am J Med Genet A. 2008 Dec 1;146A(23):3034-7. doi: 10.1002/ajmg.a.32564.

PMID:
19006212
18.

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S.

Nat Genet. 2008 Dec;40(12):1410-2. doi: 10.1038/ng.252. Epub 2008 Nov 9.

19.

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour S, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB, Clayton-Smith J.

Clin Genet. 2008 Nov;74(5):434-44. doi: 10.1111/j.1399-0004.2008.01087.x. Epub 2008 Sep 16.

PMID:
18798845
20.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.

N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10.

21.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR.

Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19.

22.

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA.

Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741.

PMID:
18425797
23.

GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif 'GUCE'.

Thompson PD, Webb M, Beckett W, Hinsley T, Jowitt T, Sharrocks AD, Tassabehji M.

FEBS Lett. 2007 Mar 20;581(6):1233-42. Epub 2007 Feb 28.

24.

Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.

Tassabehji M, Urban Z.

Methods Mol Med. 2006;126:129-56.

PMID:
16930010
26.

Discriminating power of localized three-dimensional facial morphology.

Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M.

Am J Hum Genet. 2005 Dec;77(6):999-1010. Epub 2005 Oct 26.

27.

GTF2IRD1 in craniofacial development of humans and mice.

Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D.

Science. 2005 Nov 18;310(5751):1184-7. Epub 2005 Nov 3.

28.

In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene.

Gray V, Karmiloff-Smith A, Funnell E, Tassabehji M.

Neuropsychologia. 2006;44(5):679-85. Epub 2005 Oct 10.

PMID:
16216290
29.

Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M.

Clin Dysmorphol. 2005 Apr;14(2):61-5.

PMID:
15770126
30.

Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.

Hinsley TA, Cunliffe P, Tipney HJ, Brass A, Tassabehji M.

Protein Sci. 2004 Oct;13(10):2588-99.

31.

Exploring Williams-Beuren syndrome using myGrid.

Stevens RD, Tipney HJ, Wroe CJ, Oinn TM, Senger M, Lord PW, Goble CA, Brass A, Tassabehji M.

Bioinformatics. 2004 Aug 4;20 Suppl 1:i303-10.

PMID:
15262813
32.
33.

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

Tassabehji M.

Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R229-37. Epub 2003 Sep 2. Review.

PMID:
12952863
34.

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M.

Eur J Hum Genet. 2003 Jun;11(6):468-74.

35.

Spectrum of arterial obstructions caused by one elastin gene point mutation.

Koch A, Buheitel G, Hofbeck M, Rauch A, Kraus C, Tassabehji M, Singer H.

Eur J Pediatr. 2003 Jan;162(1):53-4. No abstract available.

PMID:
12607532
36.

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome.

Karmiloff-Smith A, Grant J, Ewing S, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M.

J Med Genet. 2003 Feb;40(2):136-40. No abstract available.

37.

Modulation of TNF and GM-CSF release from dispersed human nasal polyp cells and human whole blood by inhibitors of different PDE isoenzymes and glucocorticoids.

Marx D, Tassabehji M, Heer S, Hüttenbrink KB, Szelenyi I.

Pulm Pharmacol Ther. 2002;15(1):7-15. Review.

PMID:
11969359
38.

Tremor in otosurgery: influence of physical strain on hand steadiness.

Mürbe D, Hüttenbrink KB, Zahnert T, Vogel U, Tassabehji M, Kuhlisch E, Hofmann G.

Otol Neurotol. 2001 Sep;22(5):672-7.

PMID:
11568677
39.

Elastin: mutational spectrum in supravalvular aortic stenosis.

Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M.

Eur J Hum Genet. 2000 Dec;8(12):955-63.

40.

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.

Tassabehji M, Carette M, Wilmot C, Donnai D, Read AP, Metcalfe K.

Eur J Hum Genet. 1999 Oct-Nov;7(7):737-47.

41.

A complete physical contig and partial transcript map of the Williams syndrome critical region.

Hockenhull EL, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M.

Genomics. 1999 Jun 1;58(2):138-45.

PMID:
10366445
42.

Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

Smith SJ, Rucka AK, Berry JL, Davies M, Mylchreest S, Paterson CR, Heath DA, Tassabehji M, Read AP, Mee AP, Mawer EB.

J Bone Miner Res. 1999 May;14(5):730-9.

43.

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, Dennis N, Reardon W, Splitt M, Read AP, Donnai D.

Am J Hum Genet. 1999 Jan;64(1):118-25.

44.

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG.

Am J Med Genet. 1998 Jun 16;78(1):82-9.

PMID:
9637430
45.

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.

Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, Wilmot C, Donnai D, Read AP, Jones CJ.

Hum Mol Genet. 1998 Jun;7(6):1021-8.

PMID:
9580666
46.

Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).

Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM.

Clin Dysmorphol. 1998 Jan;7(1):17-20.

PMID:
9546825
47.

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP.

Hum Mol Genet. 1997 Jul;6(7):1029-36.

PMID:
9215671
48.

Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.

Hudson J, Wu CL, Tassabehji M, Summers EM, Simon S, Super M, Donnai D, Thakker N.

Hum Mutat. 1997;9(4):366-7. No abstract available.

PMID:
9101300
49.

LIM-kinase deleted in Williams syndrome.

Tassabehji M, Metcalfe K, Fergusson WD, Carette MJ, Dore JK, Donnai D, Read AP, Pröschel C, Gutowski NJ, Mao X, Sheer D.

Nat Genet. 1996 Jul;13(3):272-3. No abstract available.

PMID:
8673124
50.

Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.

Hughes D, Wallace A, Taylor J, Tassabehji M, McMahon R, Hill A, Nevin N, Graham C.

Hum Mutat. 1996;8(3):229-35.

PMID:
8889582

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