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Items: 1 to 50 of 112

1.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Jeffries AR, Maroofian R, Salter CG, Chioza BA, Cross HE, Patton MA, Dempster E, Temple IK, Mackay DJG, Rezwan FI, Aksglaede L, Baralle D, Dabir T, Hunter MF, Kamath A, Kumar A, Newbury-Ecob R, Selicorni A, Springer A, Van Maldergem L, Varghese V, Yachelevich N, Tatton-Brown K, Mill J, Crosby AH, Baple EL.

Genome Res. 2019 Jul;29(7):1057-1066. doi: 10.1101/gr.243584.118. Epub 2019 Jun 3.

2.

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics.

Krzyzewska IM, Alders M, Maas SM, Bliek J, Venema A, Henneman P, Rezwan FI, Lip KVD, Mul AN, Mackay DJG, Mannens MMAM.

Clin Epigenetics. 2019 Mar 21;11(1):53. doi: 10.1186/s13148-019-0649-6.

3.

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.

Brightman DS, Lokulo-Sodipe O, Searle BA, Mackay DJG, Davies JH, Temple IK, Dauber A.

Horm Res Paediatr. 2018;90(6):407-413. doi: 10.1159/000496700. Epub 2019 Mar 5.

PMID:
30836360
4.

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Mackay DJG, Bliek J, Lombardi MP, Russo S, Calzari L, Guzzetti S, Izzi C, Selicorni A, Melis D, Temple K, Maher E, Brioude F, Netchine I, Eggermann T.

Genet Res (Camb). 2019 Mar 4;101:e3. doi: 10.1017/S001667231900003X.

PMID:
30829192
5.

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects.

Gheldof A, Mackay DJG, Cheong Y, Verpoest W.

J Med Genet. 2019 May;56(5):271-282. doi: 10.1136/jmedgenet-2018-105513. Epub 2019 Feb 6.

6.

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.

Monk D, Mackay DJG, Eggermann T, Maher ER, Riccio A.

Nat Rev Genet. 2019 Apr;20(4):235-248. doi: 10.1038/s41576-018-0092-0. Review.

PMID:
30647469
7.

Diabetes Mellitus, 6q24-Related Transient Neonatal.

Temple IK, Mackay DJG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2005 Oct 10 [updated 2018 Sep 13].

8.

Ticker: An Adaptive Single-Switch Text Entry Method for Visually Impaired Users.

Nel EM, Kristensson PO, MacKay DJC.

IEEE Trans Pattern Anal Mach Intell. 2019 Nov;41(11):2756-2769. doi: 10.1109/TPAMI.2018.2865897. Epub 2018 Aug 17.

PMID:
30130177
9.

Genetics, molar pregnancies and medieval ideas of monstrous births: the lump of flesh in The King of Tars.

Goodison N, Mackay DJG, Temple IK.

Med Humanit. 2019 Mar;45(1):2-9. doi: 10.1136/medhum-2017-011387. Epub 2018 Aug 7.

PMID:
30087161
10.

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood.

Ballard LM, Jenkinson E, Byrne CD, Child JC, Davies JH, Inskip H, Lokulo-Sodipe O, Mackay DJG, Wakeling EL, Temple IK, Fenwick A.

Arch Dis Child. 2019 Jan;104(1):76-82. doi: 10.1136/archdischild-2018-314952. Epub 2018 Jun 28.

PMID:
29954740
11.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG.

J Med Genet. 2018 Jul;55(7):497-504. doi: 10.1136/jmedgenet-2017-105190. Epub 2018 Mar 24.

12.

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

Brioude F, Hennekam R, Bliek J, Coze C, Eggermann T, Ferrero GB, Kratz C, Bouc YL, Maas SM, Mackay DJG, Maher ER, Mussa A, Netchine I.

Eur J Hum Genet. 2018 Apr;26(4):471-472. doi: 10.1038/s41431-017-0074-2. Epub 2018 Feb 15. No abstract available.

13.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER.

Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Review.

14.

A restatement of the natural science evidence base concerning the health effects of low-level ionizing radiation.

McLean AR, Adlen EK, Cardis E, Elliott A, Goodhead DT, Harms-Ringdahl M, Hendry JH, Hoskin P, Jeggo PA, Mackay DJC, Muirhead CR, Shepherd J, Shore RE, Thomas GA, Wakeford R, Godfray HCJ.

Proc Biol Sci. 2017 Sep 13;284(1862). pii: 20171070. doi: 10.1098/rspb.2017.1070. Review.

15.

Human imprinting disorders: Principles, practice, problems and progress.

Mackay DJG, Temple IK.

Eur J Med Genet. 2017 Nov;60(11):618-626. doi: 10.1016/j.ejmg.2017.08.014. Epub 2017 Aug 14. Review.

PMID:
28818477
16.

Diagnosis and management of Silver-Russell syndrome: first international consensus statement.

Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I.

Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2.

PMID:
27585961
17.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ.

Am J Hum Genet. 2016 Sep 1;99(3):555-566. doi: 10.1016/j.ajhg.2016.06.032. Epub 2016 Aug 25.

18.

Recent Advances in Imprinting Disorders.

Soellner L, Begemann M, Mackay DJ, Grønskov K, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T.

Clin Genet. 2017 Jan;91(1):3-13. doi: 10.1111/cge.12827. Epub 2016 Aug 4. Review.

PMID:
27363536
19.

Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea.

Taberner P, Flanagan SE, Mackay DJ, Ellard S, Taverna MJ, Ferraro M.

Diabetes Res Clin Pract. 2016 Jul;117:104-10. doi: 10.1016/j.diabres.2016.04.005. Epub 2016 Apr 26.

PMID:
27329029
20.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T.

Eur J Hum Genet. 2016 Oct;24(10):1377-87. doi: 10.1038/ejhg.2016.45. Epub 2016 May 11.

21.

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.

Bak M, Boonen SE, Dahl C, Hahnemann JM, Mackay DJ, Tümer Z, Grønskov K, Temple IK, Guldberg P, Tommerup N.

BMC Med Genet. 2016 Apr 14;17:29. doi: 10.1186/s12881-016-0292-4.

22.

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Eggermann T, de Nanclares GP, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov K, Riccio A, Linglart A, Netchine I.

Clin Epigenetics. 2016 Mar 7;8:27. doi: 10.1186/s13148-016-0194-5. eCollection 2016.

23.

Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report.

Priyadarshi A, Verge CF, Vandervliet L, Mackay DJ, Bolisetty S.

BMC Pediatr. 2015 Dec 2;15:200. doi: 10.1186/s12887-015-0512-7.

24.

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Eggermann T, Perez de Nanclares G, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov K, Riccio A, Linglart A, Netchine I.

Clin Epigenetics. 2015 Nov 14;7:123. doi: 10.1186/s13148-015-0143-8. eCollection 2015. Review. Erratum in: Clin Epigenetics. 2016;8:27.

25.

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P.

Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Review.

26.

Price carbon - I will if you will.

MacKay DJ, Cramton P, Ockenfels A, Stoft S.

Nature. 2015 Oct 15;526(7573):315-6. doi: 10.1038/526315a. No abstract available.

PMID:
26469025
27.

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.

Briggs TA, Lokulo-Sodipe K, Chandler KE, Mackay DJ, Temple IK.

Am J Med Genet A. 2016 Jan;170A(1):170-5. doi: 10.1002/ajmg.a.37400. Epub 2015 Sep 23.

PMID:
26395259
28.

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.

Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ.

Nat Commun. 2015 Sep 1;6:8086. doi: 10.1038/ncomms9086.

29.

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK.

Genet Med. 2016 Apr;18(4):309-15. doi: 10.1038/gim.2015.103. Epub 2015 Aug 6.

PMID:
26248010
30.

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

De Franco E, Flanagan SE, Houghton JA, Lango Allen H, Mackay DJ, Temple IK, Ellard S, Hattersley AT.

Lancet. 2015 Sep 5;386(9997):957-63. doi: 10.1016/S0140-6736(15)60098-8. Epub 2015 Jul 28.

31.

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.

Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Hattersley AT, Flanagan SE, Ellard S.

J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1279-86. doi: 10.1515/jpem-2015-0170.

32.

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.

Chase A, Leung W, Tapper W, Jones AV, Knoops L, Rasi C, Forsberg LA, Guglielmelli P, Zoi K, Hall V, Chiecchio L, Eder-Azanza L, Bryant C, Lannfelt L, Docherty L, White HE, Score J, Mackay DJ, Vannucchi AM, Dumanski JP, Cross NC.

Leukemia. 2015 Oct;29(10):2069-74. doi: 10.1038/leu.2015.130. Epub 2015 May 20.

33.

Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretion.

Carmody D, Beca FA, Bell CD, Hwang JL, Dickens JT, Devine NA, Mackay DJ, Temple IK, Hays LR, Naylor RN, Philipson LH, Greeley SA.

Diabetes Care. 2015 Jun;38(6):e86-7. doi: 10.2337/dc14-3056. No abstract available.

34.

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.

Rezwan FI, Docherty LE, Poole RL, Lockett GA, Arshad SH, Holloway JW, Temple IK, Mackay DJ.

Clin Epigenetics. 2015 Apr 21;7:48. doi: 10.1186/s13148-015-0081-5. eCollection 2015.

35.

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

Demirbilek H, Arya VB, Ozbek MN, Houghton JA, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJ, Flanagan SE, Hattersley AT, Ellard S, Hussain K.

Eur J Endocrinol. 2015 Jun;172(6):697-705. doi: 10.1530/EJE-14-0852. Epub 2015 Mar 9.

36.

Multilocus methylation defects in imprinting disorders.

Mackay DJ, Eggermann T, Buiting K, Garin I, Netchine I, Linglart A, de Nanclares GP.

Biomol Concepts. 2015 Mar;6(1):47-57. doi: 10.1515/bmc-2014-0037. Review.

PMID:
25581766
37.

Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome.

Abraham MB, Carpenter K, Baynam GS, Mackay DJ, Price G, Choong CS.

J Paediatr Child Health. 2015 May;51(5):555-560. doi: 10.1111/jpc.12778. Epub 2014 Nov 23.

PMID:
25418154
38.

The limited incision harvest of the rectus femoris flap for complex groin wound management.

Nelson JA, Fischer JP, Mackay DJ, Mirzabeigi MN, Cabiling DS, Kovach SJ, Serletti JM, Kanchwala S.

Ann Plast Surg. 2014 Dec;73 Suppl 2:S161-4. doi: 10.1097/SAP.0000000000000205.

PMID:
25046666
39.

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.

Rezwan FI, Poole RL, Prescott T, Walker JM, Karen Temple I, Mackay DJ.

Eur J Hum Genet. 2015 Apr;23(4):494-9. doi: 10.1038/ejhg.2014.133. Epub 2014 Jul 9.

40.

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.

Ioannides Y, Lokulo-Sodipe K, Mackay DJ, Davies JH, Temple IK.

J Med Genet. 2014 Aug;51(8):495-501. doi: 10.1136/jmedgenet-2014-102396. Epub 2014 Jun 2.

PMID:
24891339
41.

Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia.

Kalaivanan P, Arya VB, Shah P, Datta V, Flanagan SE, Mackay DJ, Ellard S, Senniappan S, Hussain K.

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1065-9. doi: 10.1515/jpem-2014-0031.

PMID:
24859512
42.

A familial disorder of altered DNA-methylation.

Caliebe A, Richter J, Ammerpohl O, Kanber D, Beygo J, Bens S, Haake A, Jüttner E, Korn B, Mackay DJ, Martin-Subero JI, Nagel I, Sebire NJ, Seidmann L, Vater I, von Kaisenberg CS, Temple IK, Horsthemke B, Buiting K, Siebert R.

J Med Genet. 2014 Jun;51(6):407-12. doi: 10.1136/jmedgenet-2013-102149. Epub 2014 Apr 10.

PMID:
24721835
43.

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes.

Docherty LE, Rezwan FI, Poole RL, Jagoe H, Lake H, Lockett GA, Arshad H, Wilson DI, Holloway JW, Temple IK, Mackay DJ.

J Med Genet. 2014 Apr;51(4):229-38. doi: 10.1136/jmedgenet-2013-102116. Epub 2014 Feb 5. Erratum in: J Med Genet. 2014 Jul;51(7):478.

44.

3-M syndrome: a growth disorder associated with IGF2 silencing.

Murray PG, Hanson D, Coulson T, Stevens A, Whatmore A, Poole RL, Mackay DJ, Black GC, Clayton PE.

Endocr Connect. 2013 Nov 11;2(4):225-35. doi: 10.1530/EC-13-0065. Print 2013.

45.

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, Mackay DJ; International Clinical Imprinting Consortium.

Am J Med Genet A. 2013 Sep;161A(9):2174-82. doi: 10.1002/ajmg.a.36049. Epub 2013 Aug 2.

PMID:
23913548
46.

Solar energy in the context of energy use, energy transportation and energy storage.

MacKay DJ.

Philos Trans A Math Phys Eng Sci. 2013 Jul 1;371(1996):20110431. doi: 10.1098/rsta.2011.0431. Print 2013 Aug 13.

PMID:
23816908
47.

Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene.

Boyraz M, Ulucan K, Taşkın N, Akçay T, Flanagan SE, Mackay DJ.

J Clin Res Pediatr Endocrinol. 2013;5(2):125-8. doi: 10.4274/Jcrpe.928.

48.

Evidence for anticipation in Beckwith-Wiedemann syndrome.

Berland S, Appelbäck M, Bruland O, Beygo J, Buiting K, Mackay DJ, Karen Temple I, Houge G.

Eur J Hum Genet. 2013 Dec;21(12):1344-8. doi: 10.1038/ejhg.2013.71. Epub 2013 Apr 10.

49.

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, Ellard S, Hattersley AT, Shield JP, Ennis S, Mackay DJ, Temple IK.

Diabetologia. 2013 Apr;56(4):758-62. doi: 10.1007/s00125-013-2832-1. Epub 2013 Feb 6.

PMID:
23385738
50.

Could energy-intensive industries be powered by carbon-free electricity?

MacKay DJ.

Philos Trans A Math Phys Eng Sci. 2013 Jan 28;371(1986):20110560. doi: 10.1098/rsta.2011.0560. Print 2013 Mar 13.

PMID:
23359732

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