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Items: 14

1.

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.

Broekema MF, Massink MPG, Donato C, de Ligt J, Schaarschmidt J, Borgman A, Schooneman MG, Melchers D, Gerding MN, Houtman R, Bonvin AMJJ, Majithia AR, Monajemi H, van Haaften GW, Soeters MR, Kalkhoven E.

Mol Metab. 2019 Feb;20:115-127. doi: 10.1016/j.molmet.2018.12.005. Epub 2018 Dec 16.

2.

A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.

Broekema MF, Massink MPG, De Ligt J, Stigter ECA, Monajemi H, De Ridder J, Burgering BMT, van Haaften GW, Kalkhoven E.

Front Physiol. 2018 Sep 26;9:1363. doi: 10.3389/fphys.2018.01363. eCollection 2018.

3.

Genetic obesity: next-generation sequencing results of 1230 patients with obesity.

Kleinendorst L, Massink MPG, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, Janssen ICM, Meijers-Heijboer HJ, Knoers NVAM, Ploos van Amstel HK, van Rossum EFC, van den Akker ELT, van Haaften G, van der Zwaag B, van Haelst MM.

J Med Genet. 2018 Sep;55(9):578-586. doi: 10.1136/jmedgenet-2018-105315. Epub 2018 Jul 3.

PMID:
29970488
4.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K.

Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. Epub 2018 Mar 29.

5.

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.

Tessadori F, Giltay JC, Hurst JA, Massink MP, Duran K, Vos HR, van Es RM; Deciphering Developmental Disorders Study, Scott RH, van Gassen KLI, Bakkers J, van Haaften G.

Nat Genet. 2017 Nov;49(11):1642-1646. doi: 10.1038/ng.3956. Epub 2017 Sep 18.

PMID:
28920961
6.

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.

Kooi IE, Mol BM, Massink MP, Ameziane N, Meijers-Heijboer H, Dommering CJ, van Mil SE, de Vries Y, van der Hout AH, Kaspers GJ, Moll AC, Te Riele H, Cloos J, Dorsman JC.

Sci Rep. 2016 Apr 29;6:25264. doi: 10.1038/srep25264.

7.

A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression.

Kooi IE, Mol BM, Massink MP, de Jong MC, de Graaf P, van der Valk P, Meijers-Heijboer H, Kaspers GJ, Moll AC, Te Riele H, Cloos J, Dorsman JC.

PLoS One. 2016 Apr 26;11(4):e0153323. doi: 10.1371/journal.pone.0153323. eCollection 2016.

8.

Genomic profiling of CHEK2*1100delC-mutated breast carcinomas.

Massink MP, Kooi IE, Martens JW, Waisfisz Q, Meijers-Heijboer H.

BMC Cancer. 2015 Nov 9;15:877. doi: 10.1186/s12885-015-1880-y.

9.

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Massink MP, Créton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ, van Haaften G.

Am J Hum Genet. 2015 Oct 1;97(4):621-6. doi: 10.1016/j.ajhg.2015.08.014. Epub 2015 Sep 17.

10.

Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes.

Massink MP, Kooi IE, van Mil SE, Jordanova ES, Ameziane N, Dorsman JC, van Beek DM, van der Voorn JP, Sie D, Ylstra B, van Deurzen CH, Martens JW, Smid M, Sieuwerts AM, de Weerd V, Foekens JA, van den Ouweland AM, van Dyk E, Nederlof PM, Waisfisz Q, Meijers-Heijboer H.

Mol Oncol. 2015 Apr;9(4):877-88. doi: 10.1016/j.molonc.2014.12.012. Epub 2015 Jan 13.

11.

Coregulation of FANCA and BRCA1 in human cells.

Haitjema A, Mol BM, Kooi IE, Massink MP, Jørgensen JA, Rockx DA, Rooimans MA, de Winter JP, Meijers-Heijboer H, Joenje H, Dorsman JC.

Springerplus. 2014 Jul 28;3:381. doi: 10.1186/2193-1801-3-381. eCollection 2014.

12.

High resolution SNP array profiling identifies variability in retinoblastoma genome stability.

Mol BM, Massink MP, van der Hout AH, Dommering CJ, Zaman JM, Bosscha MI, Kors WA, Meijers-Heijboer HE, Kaspers GJ, Riele Ht, Moll AC, Cloos J, Dorsman JC.

Genes Chromosomes Cancer. 2014 Jan;53(1):1-14. doi: 10.1002/gcc.22111. Epub 2013 Nov 5.

PMID:
24249257
13.

Proteomics of mouse BRCA1-deficient mammary tumors identifies DNA repair proteins with potential diagnostic and prognostic value in human breast cancer.

Warmoes M, Jaspers JE, Pham TV, Piersma SR, Oudgenoeg G, Massink MP, Waisfisz Q, Rottenberg S, Boven E, Jonkers J, Jimenez CR.

Mol Cell Proteomics. 2012 Jul;11(7):M111.013334. doi: 10.1074/mcp.M111.013334. Epub 2012 Feb 24.

14.

Comparative analysis of the natriuretic peptide precursor gene cluster in vertebrates reveals loss of ANF and retention of CNP-3 in chicken.

Houweling AC, Somi S, Massink MP, Groenen MA, Moorman AF, Christoffels VM.

Dev Dyn. 2005 Jul;233(3):1076-82.

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