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Items: 1 to 50 of 119

1.

Autosomal dominant macrothrombocytopenia caused by a rare GPIBB variant: The importance of DNA sequencing.

De Kesel PM, Vantilborgh A, Dierick J, Luyckx A, Debussche S, Freson K, Devreese KMJ.

Int J Lab Hematol. 2019 Dec 2. doi: 10.1111/ijlh.13136. [Epub ahead of print] No abstract available.

PMID:
31793234
2.

Blood platelet research in autism spectrum disorders: In search of biomarkers.

Padmakumar M, Van Raes E, Van Geet C, Freson K.

Res Pract Thromb Haemost. 2019 Jul 16;3(4):566-577. doi: 10.1002/rth2.12239. eCollection 2019 Oct. Review.

3.

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

Bury L, Megy K, Stephens JC, Grassi L, Greene D, Gleadall N, Althaus K, Allsup D, Bariana TK, Bonduel M, Butta NV, Collins P, Curry N, Deevi SVV, Downes K, Duarte D, Elliott K, Falcinelli E, Furie B, Keeling D, Lambert MP, Linger R, Mangles S, Mapeta R, Millar CM, Penkett C, Perry DJ, Stirrups KE, Turro E, Westbury SK, Wu J, BioResource N, Gomez K, Freson K, Ouwehand WH, Gresele P, Simeoni I.

Hum Mutat. 2019 Sep 28. doi: 10.1002/humu.23927. [Epub ahead of print]

PMID:
31562665
4.

Hyperactive GPIb-von Willebrand factor interaction as cause of thrombocytopenia: altered platelet formation versus clearance.

Freson K.

Haematologica. 2019 Jul;104(7):1298-1299. doi: 10.3324/haematol.2019.219832. No abstract available.

5.

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.

Padmakumar M, Jaeken J, Ramaekers V, Lagae L, Greene D, Thys C, Van Geet C, BioResource N, Stirrups K, Downes K, Turro E, Freson K.

JIMD Rep. 2019 Mar 25;47(1):9-16. doi: 10.1002/jmd2.12030. eCollection 2019 May.

6.

The Influence of the Duration of Breastfeeding on the Infant's Metabolic Epigenome.

Pauwels S, Symons L, Vanautgaerden EL, Ghosh M, Duca RC, Bekaert B, Freson K, Huybrechts I, Langie SAS, Koppen G, Devlieger R, Godderis L.

Nutrients. 2019 Jun 22;11(6). pii: E1408. doi: 10.3390/nu11061408.

7.

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, Burden F, Bordet JC, Armari-Alla C, Erber W, Farrow S, Gleadall N, Gomez K, Megy K, Papadia S, Penkett CJ, Sims MC, Stefanucci L, Stephens JC, Read RJ, Stirrups KE, Ouwehand WH, Laffan MA; NIHR BioResource, Frontini M, Freson K, Turro E.

Blood. 2019 Dec 5;134(23):2070-2081. doi: 10.1182/blood.2019000782.

PMID:
31217188
8.

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family.

De Kock L, Thys C, Downes K, Duarte D, Megy K, Van Geet C, Freson K.

Platelets. 2019;30(7):931-934. doi: 10.1080/09537104.2019.1628197. Epub 2019 Jun 17.

PMID:
31204551
9.

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.

Megy K, Downes K, Simeoni I, Bury L, Morales J, Mapeta R, Bellissimo DB, Bray PF, Goodeve AC, Gresele P, Lambert M, Reitsma P, Ouwehand WH, Freson K; Subcommittee on Genomics in Thrombosis and Hemostasis.

J Thromb Haemost. 2019 Aug;17(8):1253-1260. doi: 10.1111/jth.14479. Epub 2019 Jun 9. No abstract available.

10.

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ; NIHR BioResource, Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K.

Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.

PMID:
31064749
11.

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

Van Esch H, Colnaghi R, Freson K, Starokadomskyy P, Zankl A, Backx L, Abramowicz I, Outwin E, Rohena L, Faulkner C, Leong GM, Newbury-Ecob RA, Challis RC, Õunap K, Jaeken J, Seuntjens E, Devriendt K, Burstein E, Low KJ, O'Driscoll M.

Am J Hum Genet. 2019 May 2;104(5):957-967. doi: 10.1016/j.ajhg.2019.03.006. Epub 2019 Apr 18.

12.

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.

van Oorschot R, Marneth AE, Bergevoet SM, van Bergen MGJM, Peerlinck K, Lentaigne CE, Millar CM, Westbury SK, Favier R, Erber WN, Turro E, Jansen JH, Ouwehand WH, McKinney HL; NIHR BioResource Collaborative Group, Downes K, Freson K, van der Reijden BA.

Haematologica. 2019 Jun;104(6):e260-e264. doi: 10.3324/haematol.2018.207712. Epub 2018 Dec 20. No abstract available.

13.

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

Bariana TK, Labarque V, Heremans J, Thys C, De Reys M, Greene D, Jenkins B, Grassi L, Seyres D, Burden F, Whitehorn D, Shamardina O, Papadia S, Gomez K, BioResource N, Van Geet C, Koulman A, Ouwehand WH, Ghevaert C, Frontini M, Turro E, Freson K.

Haematologica. 2019 May;104(5):1036-1045. doi: 10.3324/haematol.2018.204784. Epub 2018 Nov 22.

14.

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.

Westbury SK, Downes K, Burney C, Lozano ML, Obaji SG, Toh CH, Sevivas T, Morgan NV, Erber WN, Kempster C, Moore SF, Thys C, Papadia S, Ouwehand WH; NIHR BioResource–Rare Diseases, Laffan MA, Gomez K, Freson K, Rivera J, Mumford AD.

Blood Adv. 2018 Sep 25;2(18):2341-2346. doi: 10.1182/bloodadvances.2018020370. No abstract available.

15.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A.

Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Review.

16.

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.

Hofmann I, Geer MJ, Vögtle T, Crispin A, Campagna DR, Barr A, Calicchio ML, Heising S, van Geffen JP, Kuijpers MJE, Heemskerk JWM, Eble JA, Schmitz-Abe K, Obeng EA, Douglas M, Freson K, Pondarré C, Favier R, Jarvis GE, Markianos K, Turro E, Ouwehand WH, Mazharian A, Fleming MD, Senis YA.

Blood. 2018 Sep 27;132(13):1399-1412. doi: 10.1182/blood-2017-08-802769. Epub 2018 Jun 13.

17.

High-throughput sequencing for diagnosing platelet disorders: lessons learned from exploring the causes of bleeding disorders.

Heremans J, Freson K.

Int J Lab Hematol. 2018 May;40 Suppl 1:89-96. doi: 10.1111/ijlh.12812. Review.

PMID:
29741246
18.

Cell-Specific PEAR1 Methylation Studies Reveal a Locus that Coordinates Expression of Multiple Genes.

Izzi B, Noro F, Cludts K, Freson K, Hoylaerts MF.

Int J Mol Sci. 2018 Apr 3;19(4). pii: E1069. doi: 10.3390/ijms19041069.

19.

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.

Heremans J, Garcia-Perez JE, Turro E, Schlenner SM, Casteels I, Collin R, de Zegher F, Greene D, Humblet-Baron S, Lesage S, Matthys P, Penkett CJ, Put K, Stirrups K; National Institute for Health Research BioResource, Thys C, Van Geet C, Van Nieuwenhove E, Wouters C, Meyts I, Freson K, Liston A.

J Allergy Clin Immunol. 2018 Aug;142(2):630-646. doi: 10.1016/j.jaci.2017.11.061. Epub 2018 Jan 31.

PMID:
29391254
20.

Glucocorticoid receptor DNA methylation and childhood trauma in chronic fatigue syndrome patients.

Vangeel EB, Kempke S, Bakusic J, Godderis L, Luyten P, Van Heddegem L, Compernolle V, Persoons P, Lambrechts D, Izzi B, Freson K, Claes S.

J Psychosom Res. 2018 Jan;104:55-60. doi: 10.1016/j.jpsychores.2017.11.011. Epub 2017 Nov 20.

PMID:
29275786
21.

Newborn genome-wide DNA methylation in association with pregnancy anxiety reveals a potential role for GABBR1.

Vangeel EB, Pishva E, Hompes T, van den Hove D, Lambrechts D, Allegaert K, Freson K, Izzi B, Claes S.

Clin Epigenetics. 2017 Oct 3;9:107. doi: 10.1186/s13148-017-0408-5. eCollection 2017.

22.

GATA1 gene variants associated with thrombocytopenia and anemia.

Freson K, Wijgaerts A, Van Geet C.

Platelets. 2017 Nov;28(7):731-734. doi: 10.1080/09537104.2017.1361525. Epub 2017 Sep 12. Review. No abstract available.

PMID:
28895773
23.

Pituitary adenylate cyclase-activating polypeptide (PACAP) in zebrafish models of nephrotic syndrome.

Eneman B, Elmonem MA, van den Heuvel LP, Khodaparast L, Khodaparast L, van Geet C, Freson K, Levtchenko E.

PLoS One. 2017 Jul 31;12(7):e0182100. doi: 10.1371/journal.pone.0182100. eCollection 2017.

24.

Platelet function is modified by common sequence variation in megakaryocyte super enhancers.

Petersen R, Lambourne JJ, Javierre BM, Grassi L, Kreuzhuber R, Ruklisa D, Rosa IM, Tomé AR, Elding H, van Geffen JP, Jiang T, Farrow S, Cairns J, Al-Subaie AM, Ashford S, Attwood A, Batista J, Bouman H, Burden F, Choudry FA, Clarke L, Flicek P, Garner SF, Haimel M, Kempster C, Ladopoulos V, Lenaerts AS, Materek PM, McKinney H, Meacham S, Mead D, Nagy M, Penkett CJ, Rendon A, Seyres D, Sun B, Tuna S, van der Weide ME, Wingett SW, Martens JH, Stegle O, Richardson S, Vallier L, Roberts DJ, Freson K, Wernisch L, Stunnenberg HG, Danesh J, Fraser P, Soranzo N, Butterworth AS, Heemskerk JW, Turro E, Spivakov M, Ouwehand WH, Astle WJ, Downes K, Kostadima M, Frontini M.

Nat Commun. 2017 Jul 13;8:16058. doi: 10.1038/ncomms16058.

25.

High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders.

Freson K, Turro E.

J Thromb Haemost. 2017 Jul;15(7):1262-1272. doi: 10.1111/jth.13681. Review.

26.

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.

Westbury SK, Canault M, Greene D, Bermejo E, Hanlon K, Lambert MP, Millar CM, Nurden P, Obaji SG, Revel-Vilk S, Van Geet C, Downes K, Papadia S, Tuna S, Watt C; NIHR BioResource–Rare Diseases Consortium, Freson K, Laffan MA, Ouwehand WH, Alessi MC, Turro E, Mumford AD.

Blood. 2017 Aug 24;130(8):1026-1030. doi: 10.1182/blood-2017-03-776773. Epub 2017 Jun 21.

27.

PIGO deficiency: palmoplantar keratoderma and novel mutations.

Morren MA, Jaeken J, Visser G, Salles I, Van Geet C; NIHR BioResource, Simeoni I, Turro E, Freson K.

Orphanet J Rare Dis. 2017 May 25;12(1):101. doi: 10.1186/s13023-017-0654-9. Review.

28.

The amplitude of coagulation curves from thrombin time tests allows dysfibrinogenemia caused by the common mutation FGG-Arg301 to be distinguished from hypofibrinogenemia.

Jacquemin M, Vanlinthout I, Van Horenbeeck I, Debasse M, Toelen J, Schoeters J, Lavend'homme R, Freson K, Peerlinck K.

Int J Lab Hematol. 2017 Jun;39(3):301-307. doi: 10.1111/ijlh.12625. Epub 2017 Mar 20.

PMID:
28318107
29.

The effect of paternal methyl-group donor intake on offspring DNA methylation and birth weight.

Pauwels S, Truijen I, Ghosh M, Duca RC, Langie SAS, Bekaert B, Freson K, Huybrechts I, Koppen G, Devlieger R, Godderis L.

J Dev Orig Health Dis. 2017 Jun;8(3):311-321. doi: 10.1017/S2040174417000046. Epub 2017 Mar 6.

PMID:
28260562
30.

Maternal intake of methyl-group donors affects DNA methylation of metabolic genes in infants.

Pauwels S, Ghosh M, Duca RC, Bekaert B, Freson K, Huybrechts I, Langie SAS, Koppen G, Devlieger R, Godderis L.

Clin Epigenetics. 2017 Feb 7;9:16. doi: 10.1186/s13148-017-0321-y. eCollection 2017.

31.

The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.

Wijgaerts A, Wittevrongel C, Thys C, Devos T, Peerlinck K, Tijssen MR, Van Geet C, Freson K.

Haematologica. 2017 Apr;102(4):695-706. doi: 10.3324/haematol.2016.152777. Epub 2017 Jan 12.

32.

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD; NIHR BioResource, Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E.

Blood. 2017 Jan 26;129(4):520-524. doi: 10.1182/blood-2016-08-732248. Epub 2016 Nov 14.

33.

The Human Phenotype Ontology in 2017.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.

Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Review.

34.

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, Mead D, Bouman H, Riveros-Mckay F, Kostadima MA, Lambourne JJ, Sivapalaratnam S, Downes K, Kundu K, Bomba L, Berentsen K, Bradley JR, Daugherty LC, Delaneau O, Freson K, Garner SF, Grassi L, Guerrero J, Haimel M, Janssen-Megens EM, Kaan A, Kamat M, Kim B, Mandoli A, Marchini J, Martens JHA, Meacham S, Megy K, O'Connell J, Petersen R, Sharifi N, Sheard SM, Staley JR, Tuna S, van der Ent M, Walter K, Wang SY, Wheeler E, Wilder SP, Iotchkova V, Moore C, Sambrook J, Stunnenberg HG, Di Angelantonio E, Kaptoge S, Kuijpers TW, Carrillo-de-Santa-Pau E, Juan D, Rico D, Valencia A, Chen L, Ge B, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yang Y, Guigo R, Beck S, Paul DS, Pastinen T, Bujold D, Bourque G, Frontini M, Danesh J, Roberts DJ, Ouwehand WH, Butterworth AS, Soranzo N.

Cell. 2016 Nov 17;167(5):1415-1429.e19. doi: 10.1016/j.cell.2016.10.042.

35.

Dietary and supplemental maternal methyl-group donor intake and cord blood DNA methylation.

Pauwels S, Ghosh M, Duca RC, Bekaert B, Freson K, Huybrechts I, A S Langie S, Koppen G, Devlieger R, Godderis L.

Epigenetics. 2017 Jan 2;12(1):1-10. doi: 10.1080/15592294.2016.1257450. Epub 2016 Nov 10.

36.

Methylome analysis for spina bifida shows SOX18 hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development.

Rochtus A, Winand R, Laenen G, Vangeel E, Izzi B, Wittevrongel C, Moreau Y, Verpoorten C, Jansen K, Van Geet C, Freson K.

Clin Epigenetics. 2016 Oct 13;8:108. eCollection 2016.

37.

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.

Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise C, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, BioResource N, Nurden AT, Nurden P, Freson K, Trégouët DA, Raslova H, Alessi MC.

Haematologica. 2017 Feb;102(2):282-294. doi: 10.3324/haematol.2016.147694. Epub 2016 Sep 23.

38.

Maternal Methyl-Group Donor Intake and Global DNA (Hydroxy)Methylation before and during Pregnancy.

Pauwels S, Duca RC, Devlieger R, Freson K, Straetmans D, Van Herck E, Huybrechts I, Koppen G, Godderis L.

Nutrients. 2016 Aug 6;8(8). pii: E474. doi: 10.3390/nu8080474.

39.

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.

Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, De Sanctis L, Elli FM, Freson K, Garin I, Grybek V, Hanna P, Izzi B, Hiort O, Lecumberri B, Pereda A, Saraff V, Silve C, Turan S, Usardi A, Werner R, de Nanclares GP, Linglart A.

Eur J Endocrinol. 2016 Dec;175(6):P1-P17. Epub 2016 Jul 11. Review.

40.

Allele-specific DNA methylation reinforces PEAR1 enhancer activity.

Izzi B, Pistoni M, Cludts K, Akkor P, Lambrechts D, Verfaillie C, Verhamme P, Freson K, Hoylaerts MF.

Blood. 2016 Aug 18;128(7):1003-12. doi: 10.1182/blood-2015-11-682153. Epub 2016 Jun 16.

PMID:
27313330
41.

Inherited platelet disorders: toward DNA-based diagnosis.

Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH; BRIDGE-BPD Consortium and the ThromboGenomics Consortium.

Blood. 2016 Jun 9;127(23):2814-23. doi: 10.1182/blood-2016-03-378588. Epub 2016 Apr 19. Review.

42.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E.

Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15.

43.

Distribution and Function of PACAP and Its Receptors in the Healthy and Nephrotic Kidney.

Eneman B, van den Heuvel L, Freson K, Van Geet C, Willemsen B, Dijkman H, Levtchenko E.

Nephron. 2016;132(4):301-11. doi: 10.1159/000445035. Epub 2016 Apr 7.

PMID:
27050435
44.

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett CJ, Ashford S, Attwood A, Austin S, Bakchoul T, Collins P, Deevi SV, Favier R, Kostadima M, Lambert MP, Mathias M, Millar CM, Peerlinck K, Perry DJ, Schulman S, Whitehorn D, Wittevrongel C; BRIDGE-BPD Consortium, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley JR, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K, Ouwehand WH.

Sci Transl Med. 2016 Mar 2;8(328):328ra30. doi: 10.1126/scitranslmed.aad7666. Epub 2016 Mar 2.

45.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD.

Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24.

46.

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

Rochtus A, Martin-Trujillo A, Izzi B, Elli F, Garin I, Linglart A, Mantovani G, Perez de Nanclares G, Thiele S, Decallonne B, Van Geet C, Monk D, Freson K.

Clin Epigenetics. 2016 Jan 26;8:10. doi: 10.1186/s13148-016-0175-8. eCollection 2016.

47.

Platelet studies in autism spectrum disorder patients and first-degree relatives.

Bijl N, Thys C, Wittevrongel C, De la Marche W, Devriendt K, Peeters H, Van Geet C, Freson K.

Mol Autism. 2015 Oct 23;6:57. doi: 10.1186/s13229-015-0051-y. eCollection 2015.

48.

Nutri-epigenomic Studies Related to Neural Tube Defects: Does Folate Affect Neural Tube Closure Via Changes in DNA Methylation?

Rochtus A, Jansen K, Van Geet C, Freson K.

Mini Rev Med Chem. 2015;15(13):1095-102. Review.

PMID:
26349489
49.

DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress.

Vangeel EB, Izzi B, Hompes T, Vansteelandt K, Lambrechts D, Freson K, Claes S.

Genes Brain Behav. 2015 Nov;14(8):573-82. doi: 10.1111/gbb.12249. Epub 2015 Sep 23.

50.

Platelet abnormalities in nephrotic syndrome.

Eneman B, Levtchenko E, van den Heuvel B, Van Geet C, Freson K.

Pediatr Nephrol. 2016 Aug;31(8):1267-79. doi: 10.1007/s00467-015-3173-8. Epub 2015 Aug 13. Review.

PMID:
26267676

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