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Items: 1 to 50 of 133

1.

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.

Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Jääskeläinen J, Patyra K, Löf C, Williams ED; UK10K Consortium, Soleimani M, Barrett T, Maher ER, Chatterjee VK, Refetoff S, Schoenmakers N.

JCI Insight. 2018 Oct 18;3(20). pii: 99631. doi: 10.1172/jci.insight.99631.

2.

A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.

Agostini M, Schoenmakers E, Beig J, Fairall L, Szatmari I, Rajanayagam O, Muskett FW, Adams C, Marais AD, O'Rahilly S, Semple RK, Nagy L, Majithia AR, Schwabe JWR, Blom DJ, Murphy R, Chatterjee K, Savage DB.

Diabetes. 2018 Jun;67(6):1086-1092. doi: 10.2337/db17-1236. Epub 2018 Apr 5.

3.

Identification of Genetic Disorders Causing Disruption of Selenoprotein Biosynthesis.

Schoenmakers E, Chatterjee K.

Methods Mol Biol. 2018;1661:325-335. doi: 10.1007/978-1-4939-7258-6_23.

PMID:
28917055
4.

Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins.

Moran C, Agostini M, McGowan A, Schoenmakers E, Fairall L, Lyons G, Rajanayagam O, Watson L, Offiah A, Barton J, Price S, Schwabe J, Chatterjee K.

Thyroid. 2017 Jul;27(7):973-982. doi: 10.1089/thy.2017.0157.

5.

Competencies in European gerontological higher education. An explorative study on core elements.

Schoenmakers EC, Damron-Rodriguez J, Frank JC, Pianosi B, Jukema JS.

Gerontol Geriatr Educ. 2017 Jan-Mar;38(1):5-16. doi: 10.1080/02701960.2016.1188812. Epub 2016 Sep 22.

PMID:
28222273
6.

Ligand-induced conformational changes in prolyl oligopeptidase: a kinetic approach.

Van Elzen R, Schoenmakers E, Brandt I, Van Der Veken P, Lambeir AM.

Protein Eng Des Sel. 2017 Mar 1;30(3):217-224. doi: 10.1093/protein/gzw079.

PMID:
28062644
7.

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N.

J Clin Endocrinol Metab. 2016 Dec;101(12):4521-4531. Epub 2016 Aug 15.

8.

Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.

Nicholas AK, Jaleel S, Lyons G, Schoenmakers E, Dattani MT, Crowne E, Bernhard B, Kirk J, Roche EF, Chatterjee VK, Schoenmakers N.

Clin Endocrinol (Oxf). 2017 Mar;86(3):410-418. doi: 10.1111/cen.13149. Epub 2016 Aug 4.

9.

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.

Schoenmakers E, Carlson B, Agostini M, Moran C, Rajanayagam O, Bochukova E, Tobe R, Peat R, Gevers E, Muntoni F, Guicheney P, Schoenmakers N, Farooqi S, Lyons G, Hatfield D, Chatterjee K.

J Clin Invest. 2016 Mar 1;126(3):992-6. doi: 10.1172/JCI84747. Epub 2016 Feb 8.

10.

A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism.

Koulouri O, Nicholas AK, Schoenmakers E, Mokrosinski J, Lane F, Cole T, Kirk J, Farooqi IS, Chatterjee VK, Gurnell M, Schoenmakers N.

J Clin Endocrinol Metab. 2016 Mar;101(3):847-51. doi: 10.1210/jc.2015-3916. Epub 2016 Jan 6.

11.

Nephrogenic syndrome of inappropriate antidiuresis secondary to an activating mutation in the arginine vasopressin receptor AVPR2.

Powlson AS, Challis BG, Halsall DJ, Schoenmakers E, Gurnell M.

Clin Endocrinol (Oxf). 2016 Aug;85(2):306-12. doi: 10.1111/cen.13011. Epub 2016 Feb 4.

PMID:
26715131
12.

Problem-focused and emotion-focused coping options and loneliness: how are they related?

Schoenmakers EC, van Tilburg TG, Fokkema T.

Eur J Ageing. 2015 Feb 11;12(2):153-161. doi: 10.1007/s10433-015-0336-1. eCollection 2015 Jun.

13.

Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

Moran C, Agostini M, Visser WE, Schoenmakers E, Schoenmakers N, Offiah AC, Poole K, Rajanayagam O, Lyons G, Halsall D, Gurnell M, Chrysis D, Efthymiadou A, Buchanan C, Aylwin S, Chatterjee KK.

Lancet Diabetes Endocrinol. 2014 Aug;2(8):619-26. doi: 10.1016/S2213-8587(14)70111-1. Epub 2014 Jun 23. Erratum in: Lancet Diabetes Endocrinol. 2014 Aug;2(8):e14.

14.

An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.

Moran C, Schoenmakers N, Agostini M, Schoenmakers E, Offiah A, Kydd A, Kahaly G, Mohr-Kahaly S, Rajanayagam O, Lyons G, Wareham N, Halsall D, Dattani M, Hughes S, Gurnell M, Park SM, Chatterjee K.

J Clin Endocrinol Metab. 2013 Nov;98(11):4254-61. doi: 10.1210/jc.2013-2215. Epub 2013 Aug 12.

PMID:
23940126
15.

Initial clinical sensitivity and acquired resistance to MET inhibition in MET-mutated papillary renal cell carcinoma.

Diamond JR, Salgia R, Varella-Garcia M, Kanteti R, LoRusso PM, Clark JW, Xu LG, Wilner K, Eckhardt SG, Ching KA, Lira ME, Schoenmakers EF, Christensen JG, Camidge DR.

J Clin Oncol. 2013 Jun 1;31(16):e254-8. doi: 10.1200/JCO.2012.46.4289. Epub 2013 Apr 22. No abstract available.

16.

Multiplexed gene expression and fusion transcript analysis to detect ALK fusions in lung cancer.

Lira ME, Kim TM, Huang D, Deng S, Koh Y, Jang B, Go H, Lee SH, Chung DH, Kim WH, Schoenmakers EF, Choi YL, Park K, Ahn JS, Sun JM, Ahn MJ, Kim DW, Mao M.

J Mol Diagn. 2013 Jan;15(1):51-61. doi: 10.1016/j.jmoldx.2012.08.006. Epub 2012 Dec 12.

PMID:
23246132
17.

Identification of CUX1 as the recurrent chromosomal band 7q22 target gene in human uterine leiomyoma.

Schoenmakers EF, Bunt J, Hermers L, Schepens M, Merkx G, Janssen B, Kersten M, Huys E, Pauwels P, Debiec-Rychter M, van Kessel AG.

Genes Chromosomes Cancer. 2013 Jan;52(1):11-23. doi: 10.1002/gcc.22001. Epub 2012 Sep 10.

PMID:
22965931
18.

Resistance to thyroid hormone--an incidental finding.

Chantler D, Moran C, Schoenmakers E, Cleland S, Panarelli M.

BMJ Case Rep. 2012 Mar 27;2012. pii: bcr1220115375. doi: 10.1136/bcr.12.2011.5375.

19.

Hypothalamic mTOR pathway mediates thyroid hormone-induced hyperphagia in hyperthyroidism.

Varela L, Martínez-Sánchez N, Gallego R, Vázquez MJ, Roa J, Gándara M, Schoenmakers E, Nogueiras R, Chatterjee K, Tena-Sempere M, Diéguez C, López M.

J Pathol. 2012 Jun;227(2):209-22. doi: 10.1002/path.3984. Epub 2012 Feb 17.

PMID:
22294347
20.

A mutation in the thyroid hormone receptor alpha gene.

Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M, Chatterjee K.

N Engl J Med. 2012 Jan 19;366(3):243-9. doi: 10.1056/NEJMoa1110296. Epub 2011 Dec 14. Erratum in: N Engl J Med. 2012 Oct 11;367(15):1474. Khadem, Faraneh Vargha [corrected to Vargha-Khadem, Faraneh].

21.

Coping with loneliness: what do older adults suggest?

Schoenmakers EC, van Tilburg TG, Fokkema T.

Aging Ment Health. 2012;16(3):353-60. doi: 10.1080/13607863.2011.630373. Epub 2011 Nov 30.

PMID:
22129447
22.

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.

Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K.

J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15.

23.

Hypothalamic AMPK and fatty acid metabolism mediate thyroid regulation of energy balance.

López M, Varela L, Vázquez MJ, Rodríguez-Cuenca S, González CR, Velagapudi VR, Morgan DA, Schoenmakers E, Agassandian K, Lage R, Martínez de Morentin PB, Tovar S, Nogueiras R, Carling D, Lelliott C, Gallego R, Oresic M, Chatterjee K, Saha AK, Rahmouni K, Diéguez C, Vidal-Puig A.

Nat Med. 2010 Sep;16(9):1001-8. doi: 10.1038/nm.2207. Epub 2010 Aug 29.

24.

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.

Mukhopadhyay A, Kramer JM, Merkx G, Lugtenberg D, Smeets DF, Oortveld MA, Blokland EA, Agrawal J, Schenck A, van Bokhoven H, Huys E, Schoenmakers EF, van Kessel AG, van Nouhuys CE, Cremers FP.

Hum Genet. 2010 Sep;128(3):281-91. doi: 10.1007/s00439-010-0848-x. Epub 2010 Jun 22.

25.

Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.

Castanet M, Mallya U, Agostini M, Schoenmakers E, Mitchell C, Demuth S, Raymond FL, Schwabe J, Gurnell M, Chatterjee VK.

J Clin Endocrinol Metab. 2010 Aug;95(8):4031-6. doi: 10.1210/jc.2010-0275. Epub 2010 May 19.

PMID:
20484477
26.

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L.

Am J Hum Genet. 2010 Jan;86(1):72-6. doi: 10.1016/j.ajhg.2009.11.014. Epub 2009 Dec 10. Erratum in: Am J Hum Genet. 2010 Sep 10;87(3):445.

27.

The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer.

Kuiper RP, Vreede L, Venkatachalam R, Ricketts C, Kamping E, Verwiel E, Govaerts L, Debiec-Rychter M, Lerut E, van Erp F, Hoogerbrugge N, van Kempen L, Schoenmakers EF, Bonne A, Maher ER, Geurts van Kessel A.

Cancer Genet Cytogenet. 2009 Dec;195(2):105-11. doi: 10.1016/j.cancergencyto.2009.07.001.

PMID:
19963109
28.

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.

Jongmans MC, Kuiper RP, Carmichael CL, Wilkins EJ, Dors N, Carmagnac A, Schouten-van Meeteren AY, Li X, Stankovic M, Kamping E, Bengtsson H, Schoenmakers EF, van Kessel AG, Hoogerbrugge PM, Hahn CN, Brons PP, Scott HS, Hoogerbrugge N.

Leukemia. 2010 Jan;24(1):242-6. doi: 10.1038/leu.2009.210. Epub 2009 Oct 15. No abstract available.

PMID:
19946261
29.

Characterization of a recurrent t(1;2)(p36;p24) in human uterine leiomyoma.

van Rijk A, Sweers M, Huys E, Kersten M, Merkx G, van Kessel AG, Debiec-Rychter M, Schoenmakers EF.

Cancer Genet Cytogenet. 2009 Aug;193(1):54-62. doi: 10.1016/j.cancergencyto.2009.03.011.

PMID:
19602464
30.

Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors.

Futter M, Diekmann H, Schoenmakers E, Sadiq O, Chatterjee K, Rubinsztein DC.

J Med Genet. 2009 Jul;46(7):438-46. doi: 10.1136/jmg.2009.066399. Epub 2009 May 17.

31.

Constitutional DNA copy number changes in ICSI children.

Woldringh GH, Janssen IM, Hehir-Kwa JY, van den Elzen C, Kremer JA, de Boer P, Schoenmakers EF.

Hum Reprod. 2009 Jan;24(1):233-40. doi: 10.1093/humrep/den323. Epub 2008 Oct 21.

PMID:
18940897
32.

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

Gervasini C, Pfundt R, Castronovo P, Russo S, Roversi G, Masciadri M, Milani D, Zampino G, Selicorni A, Schoenmakers EF, Larizza L.

Clin Genet. 2008 Dec;74(6):531-8. doi: 10.1111/j.1399-0004.2008.01086.x. Epub 2008 Sep 16.

PMID:
18798846
33.

Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes.

Schraders M, Jares P, Bea S, Schoenmakers EF, van Krieken JH, Campo E, Groenen PJ.

Br J Haematol. 2008 Oct;143(2):210-21. doi: 10.1111/j.1365-2141.2008.07334.x. Epub 2008 Aug 10.

PMID:
18699851
34.

Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion.

Poelmans G, Engelen JJ, Van Lent-Albrechts J, Smeets HJ, Schoenmakers E, Franke B, Buitelaar JK, Wuisman-Frerker M, Erens W, Steyaert J, Schrander-Stumpel C.

Am J Med Genet B Neuropsychiatr Genet. 2009 Jan 5;150B(1):140-7. doi: 10.1002/ajmg.b.30787.

PMID:
18521840
35.

Integrated profiling of basal and luminal breast cancers.

Adélaïde J, Finetti P, Bekhouche I, Repellini L, Geneix J, Sircoulomb F, Charafe-Jauffret E, Cervera N, Desplans J, Parzy D, Schoenmakers E, Viens P, Jacquemier J, Birnbaum D, Bertucci F, Chaffanet M.

Cancer Res. 2007 Dec 15;67(24):11565-75.

36.

Molecular mechanisms underlying the MiT translocation subgroup of renal cell carcinomas.

Medendorp K, van Groningen JJ, Schepens M, Vreede L, Thijssen J, Schoenmakers EF, van den Hurk WH, Geurts van Kessel A, Kuiper RP.

Cytogenet Genome Res. 2007;118(2-4):157-65. Review.

PMID:
18000366
37.

Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene.

Bonne A, Vreede L, Kuiper RP, Bodmer D, Jansen C, Eleveld M, van Erp F, Arkesteijn G, Hoogerbrugge N, van Ravenswaaij C, Schoenmakers EF, Geurts van Kessel A.

Cancer Genet Cytogenet. 2007 Nov;179(1):11-8.

PMID:
17981209
38.

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.

Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, Riley BM, L'Heureux J, Pfundt R, Staaf J, van der Vliet WA, Lidral AC, Schoenmakers EF, Borg A, Schutte BC, Lammer EJ, Murray JC, de Jong PJ.

J Med Genet. 2008 Feb;45(2):81-6. Epub 2007 Sep 14.

39.

High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression.

Kuiper RP, Schoenmakers EF, van Reijmersdal SV, Hehir-Kwa JY, van Kessel AG, van Leeuwen FN, Hoogerbrugge PM.

Leukemia. 2007 Jun;21(6):1258-66. Epub 2007 Apr 19.

PMID:
17443227
40.

Identification of tumor-specific molecular signatures in intracranial ependymoma and association with clinical characteristics.

Modena P, Lualdi E, Facchinetti F, Veltman J, Reid JF, Minardi S, Janssen I, Giangaspero F, Forni M, Finocchiaro G, Genitori L, Giordano F, Riccardi R, Schoenmakers EF, Massimino M, Sozzi G.

J Clin Oncol. 2006 Nov 20;24(33):5223-33.

PMID:
17114655
41.

Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.

Agostini M, Schoenmakers E, Mitchell C, Szatmari I, Savage D, Smith A, Rajanayagam O, Semple R, Luan J, Bath L, Zalin A, Labib M, Kumar S, Simpson H, Blom D, Marais D, Schwabe J, Barroso I, Trembath R, Wareham N, Nagy L, Gurnell M, O'Rahilly S, Chatterjee K.

Cell Metab. 2006 Oct;4(4):303-11.

42.

XX male with sex reversal and a de novo 11;22 translocation.

Macville MV, Loneus WH, Marcus-Soekarman D, Huys EH, Schoenmakers EF, Schrank-Hacker A, Emanuel BS, Engelen JJ.

Am J Med Genet A. 2006 Sep 15;140(18):1973-7. No abstract available.

43.

Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML.

Stevens-Kroef MJ, Schoenmakers EF, van Kraaij M, Huys E, Vermeulen S, van der Reijden B, van Kessel AG.

Leukemia. 2006 Jun;20(6):1187-9. No abstract available.

PMID:
16598304
44.

No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridization.

Kiemeney LA, Kuiper RP, Pfundt R, van Reijmersdal S, Schoenberg MP, Aben KK, Niermeijer MF, Witjes JA, Schoenmakers EF.

Cancer Epidemiol Biomarkers Prev. 2006 Jan;15(1):180-3. No abstract available.

45.

Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene.

Looijenga LH, Hersmus R, Gillis AJ, Pfundt R, Stoop HJ, van Gurp RJ, Veltman J, Beverloo HB, van Drunen E, van Kessel AG, Pera RR, Schneider DT, Summersgill B, Shipley J, McIntyre A, van der Spek P, Schoenmakers E, Oosterhuis JW.

Cancer Res. 2006 Jan 1;66(1):290-302.

46.

Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines.

Roversi G, Pfundt R, Moroni RF, Magnani I, van Reijmersdal S, Pollo B, Straatman H, Larizza L, Schoenmakers EF.

Oncogene. 2006 Mar 9;25(10):1571-83.

47.

Diagnostic genome profiling in mental retardation.

de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal Sv, Nillesen WM, Huys EH, Leeuw Nd, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA.

Am J Hum Genet. 2005 Oct;77(4):606-16. Epub 2005 Aug 30.

48.

Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analyses.

Magnani I, Moroni RF, Roversi G, Beghini A, Pfundt R, Schoenmakers EF, Larizza L.

Cancer Genet Cytogenet. 2005 Sep;161(2):140-5. Erratum in: Cancer Genet Cytogenet. 2005 Nov;163(1):99. Ramona, Ramona Frida [corrected to Moroni, Ramona Frida].

PMID:
16102584
49.

Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25).

Veltman IM, Vreede LA, Cheng J, Looijenga LH, Janssen B, Schoenmakers EF, Yeh ET, van Kessel AG.

Hum Mol Genet. 2005 Jul 15;14(14):1955-63. Epub 2005 May 25.

PMID:
15917269
50.

Microarray analyses reveal strong influence of DNA copy number alterations on the transcriptional patterns in pancreatic cancer: implications for the interpretation of genomic amplifications.

Heidenblad M, Lindgren D, Veltman JA, Jonson T, Mahlamäki EH, Gorunova L, van Kessel AG, Schoenmakers EF, Höglund M.

Oncogene. 2005 Mar 3;24(10):1794-801.

PMID:
15688027

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