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Page 1
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
van Walree ES, Dombrowsky G, Jansen IE, Mirkov MU, Zwart R, Ilgun A, Guo D, Clur SB, Amin AS, Savage JE, van der Wal AC, Waisfisz Q, Maugeri A, Wilsdon A, Bu'Lock FA, Hurles ME, Dittrich S, Berger F, Audain Martinez E, Christoffels VM, Hitz MP, Milewicz DM, Posthuma D, Meijers-Heijboer H, Postma AV, Mathijssen IB. van Walree ES, et al. Among authors: mathijssen ib. Genet Med. 2021 Jan;23(1):103-110. doi: 10.1038/s41436-020-00939-4. Epub 2020 Aug 21. Genet Med. 2021. PMID: 32820247 Free PMC article.
Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
van Ouwerkerk AF, Bosada FM, van Duijvenboden K, Houweling AC, Scholman KT, Wakker V, Allaart CP, Uhm JS, Mathijssen IB, Baartscheer T, Postma AV, Barnett P, Verkerk AO, Boukens BJ, Christoffels VM. van Ouwerkerk AF, et al. Among authors: mathijssen ib. Circulation. 2022 Feb 22;145(8):606-619. doi: 10.1161/CIRCULATIONAHA.121.054347. Epub 2022 Feb 3. Circulation. 2022. PMID: 35113653 Free PMC article.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
van Walree ES, Dombrowsky G, Jansen IE, Umićević Mirkov M, Zwart R, Ilgun A, Guo D, Clur SB, Amin AS, Savage JE, van der Wal AC, Waisfisz Q, Maugeri A, Wilsdon A, Bu'Lock FA, Hurles ME, Dittrich S, Berger F, Audain Martinez E, Christoffels VM, Hitz MP, Milewicz DM, Posthuma D, Meijers-Heijboer H, Postma AV, Mathijssen IB. van Walree ES, et al. Among authors: mathijssen ib. Genet Med. 2022 Apr;24(4):965. doi: 10.1016/j.gim.2022.01.018. Genet Med. 2022. PMID: 35394427 Free article. No abstract available.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Maas SM, et al. Among authors: mathijssen ib. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522
Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM. de Boer L, et al. Among authors: mathijssen ib. Horm Res. 2004;62(4):197-207. doi: 10.1159/000081063. Epub 2004 Sep 24. Horm Res. 2004. PMID: 15452385 Free article.
Testicular cancer in a patient with Primrose syndrome.
Mathijssen IB, van Hasselt-van der Velde J, Hennekam RC. Mathijssen IB, et al. Eur J Med Genet. 2006 Mar-Apr;49(2):127-33. doi: 10.1016/j.ejmg.2005.06.001. Epub 2005 Jun 23. Eur J Med Genet. 2006. PMID: 16530709 Review.
38 results