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Items: 16

1.

Intrafamilial variability of clinical features in distal arthrogryposis type 2B.

de Burca A, Ioannou C, Vandersteen A, Pope FM, Cilliers DD.

Clin Dysmorphol. 2018 Sep 13. doi: 10.1097/MCD.0000000000000243. [Epub ahead of print] No abstract available.

PMID:
30216196
2.

Assessing the Likelihood of Gene Flow From Sugarcane (Saccharum Hybrids) to Wild Relatives in South Africa.

Snyman SJ, Komape DM, Khanyi H, van den Berg J, Cilliers D, Lloyd Evans D, Barnard S, Siebert SJ.

Front Bioeng Biotechnol. 2018 Jun 7;6:72. doi: 10.3389/fbioe.2018.00072. eCollection 2018.

3.

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, Bradley L, Brady AF, Carley H, Carmichael J, Castle B, Cilliers D, Cox H, Deshpande C, Dixit A, Eason J, Elmslie F, Fry AE, Fryer A, Holder M, Homfray T, Kivuva E, McKay V, Newbury-Ecob R, Parker M, Savarirayan R, Searle C, Shannon N, Shears D, Smithson S, Thomas E, Turnpenny PD, Varghese V, Vasudevan P, Wakeling E, Baple EL, Ellard S.

Prenat Diagn. 2018 Jan;38(1):33-43. doi: 10.1002/pd.5175. Epub 2017 Dec 3.

4.

The global decline of cheetah Acinonyx jubatus and what it means for conservation.

Durant SM, Mitchell N, Groom R, Pettorelli N, Ipavec A, Jacobson AP, Woodroffe R, Böhm M, Hunter LT, Becker MS, Broekhuis F, Bashir S, Andresen L, Aschenborn O, Beddiaf M, Belbachir F, Belbachir-Bazi A, Berbash A, Brandao de Matos Machado I, Breitenmoser C, Chege M, Cilliers D, Davies-Mostert H, Dickman AJ, Ezekiel F, Farhadinia MS, Funston P, Henschel P, Horgan J, de Iongh HH, Jowkar H, Klein R, Lindsey PA, Marker L, Marnewick K, Melzheimer J, Merkle J, M'soka J, Msuha M, O'Neill H, Parker M, Purchase G, Sahailou S, Saidu Y, Samna A, Schmidt-Küntzel A, Selebatso E, Sogbohossou EA, Soultan A, Stone E, van der Meer E, van Vuuren R, Wykstra M, Young-Overton K.

Proc Natl Acad Sci U S A. 2017 Jan 17;114(3):528-533. doi: 10.1073/pnas.1611122114. Epub 2016 Dec 27.

5.

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO.

J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24.

6.

The Significance of Squamosal Suture Synostosis.

Eley KA, Thomas GP, Sheerin F, Cilliers D, Wall S, Johnson D.

J Craniofac Surg. 2016 Sep;27(6):1543-9. doi: 10.1097/SCS.0000000000002888.

PMID:
27438438
7.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR.

J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.

8.

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debré M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S.

Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17.

9.

Spatial assessment of amphibian chytrid fungus (Batrachochytrium dendrobatidis) in South Africa confirms endemic and widespread infection.

Tarrant J, Cilliers D, du Preez LH, Weldon C.

PLoS One. 2013 Jul 22;8(7):e69591. doi: 10.1371/journal.pone.0069591. Print 2013.

10.

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT; University of Washington Center for Mendelian Genomics, Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG.

Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar 28.

11.

Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.

Solomons J, Coucke P, Symoens S, Cohen MC, Pope FM, Wagner BE, Sobey G, Black R, Cilliers D.

Am J Med Genet A. 2013 May;161A(5):1122-5. doi: 10.1002/ajmg.a.35802. Epub 2013 Mar 13.

PMID:
23495203
12.

Perrault syndrome: further evidence for genetic heterogeneity.

Jenkinson EM, Clayton-Smith J, Mehta S, Bennett C, Reardon W, Green A, Pearce SH, De Michele G, Conway GS, Cilliers D, Moreton N, Davis JR, Trump D, Newman WG.

J Neurol. 2012 May;259(5):974-6. doi: 10.1007/s00415-011-6285-5. Epub 2011 Oct 27. No abstract available.

PMID:
22037954
13.

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.

Rosenfeld JA, Crolla JA, Tomkins S, Bader P, Morrow B, Gorski J, Troxell R, Forster-Gibson C, Cilliers D, Hislop RG, Lamb A, Torchia B, Ballif BC, Shaffer LG.

Am J Med Genet A. 2010 Aug;152A(8):1951-9. doi: 10.1002/ajmg.a.33516.

PMID:
20635359
14.

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.

Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T; Childhood Overgrowth Collaboration, Rahman N.

Nat Genet. 2007 Aug;39(8):963-5. Epub 2007 Jul 15.

PMID:
17632510
15.

A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.

Cilliers DD, Parveen R, Clayton P, Cairns SA, Clarke S, Shalet SM, Black GC, Newman WG, Clayton-Smith J.

Eur J Med Genet. 2007 May-Jun;50(3):216-23. Epub 2007 Jan 27.

PMID:
17369115
16.

Cerebro-facio-thoracic dysplasia: expanding the phenotype.

Cilliers D, Alanay Y, Boduroglu K, Utine E, Tunçbilek E, Clayton-Smith J.

Clin Dysmorphol. 2007 Apr;16(2):121-5.

PMID:
17351359

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