Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy
Schade van Westrum, S M, Hoogerwaard, E M, Dekker, L, Standaar, T S, Bakker, E, Ippel, P F, Oosterwijk, J C, Majoor-Krakauer, D F, van Essen, A J, Leschot, N J, Wilde, A A M, de Haan, R J, de Visser, M, van der Kooi, A J
Published in Neurology (05.07.2011)
Published in Neurology (05.07.2011)
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Reducing Seroma Formation and Its Sequelae After Mastectomy by Closure of the Dead Space: A Multi-center, Double-Blind Randomized Controlled Trial (SAM-Trial)
de Rooij, L., van Kuijk, S. M. J., Granzier, R. W. Y., Hintzen, K. F. H., Heymans, C., Theunissen, L. L. B., von Meyenfeldt, E. M., van Essen, J. A., van Haaren, E. R. M., Janssen, A., Vissers, Y. L. J., Beets, G. L., van Bastelaar, J.
Published in Annals of surgical oncology (01.05.2021)
Published in Annals of surgical oncology (01.05.2021)
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Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study
Hoogerwaard, EM, Bakker, E, Ippel, PF, Oosterwijk, JC, Majoor-Krakauer, DF, Leschot, NJ, Van Essen, AJ, Brunner, HG, van der Wouw, PA, Wilde, AAM, de Visser, M
Published in The Lancet (British edition) (19.06.1999)
Published in The Lancet (British edition) (19.06.1999)
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A genome-wide DNA methylation signature for SETD1B-related syndrome
Krzyzewska, I M, Maas, S M, Henneman, P, Lip, K V D, Venema, A, Baranano, K, Chassevent, A, Aref-Eshghi, E, van Essen, A J, Fukuda, T, Ikeda, H, Jacquemont, M, Kim, H-G, Labalme, A, Lewis, S M E, Lesca, G, Madrigal, I, Mahida, S, Matsumoto, N, Rabionet, R, Rajcan-Separovic, E, Qiao, Y, Sadikovic, B, Saitsu, H, Sweetser, D A, Alders, M, Mannens, M M A M
Published in Clinical epigenetics (04.11.2019)
Published in Clinical epigenetics (04.11.2019)
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes
Bramswig, Nuria C., Ockeloen, C. W., Czeschik, J. C., van Essen, A. J., Pfundt, R., Smeitink, J., Poll-The, B. T., Engels, H., Strom, T. M., Wieczorek, D., Kleefstra, T., Lüdecke, H.-J.
Published in Human genetics (01.10.2015)
Published in Human genetics (01.10.2015)
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De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review
van den Akker, W.M.R., Brummelman, I., Martis, L.M., Timmermans, R.N., Pfundt, R., Kleefstra, T., Willemsen, M.H., Gerkes, E.H., Herkert, J.C., van Essen, A.J., Rump, P., Vansenne, F., Terhal, P.A., van Haelst, M.M., Cristian, I., Turner, C.E., Cho, M.T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K.L.I., Stegmann, A.P.A., de Vries, B.B.A., Schuurs‐Hoeijmakers, J.H.M.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
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Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome
Maas, S M, Lombardi, M P, van Essen, A J, Wakeling, E L, Castle, B, Temple, I K, Kumar, V K A, Writzl, K, Hennekam, Raoul C M
Published in Journal of medical genetics (01.10.2009)
Published in Journal of medical genetics (01.10.2009)
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Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders
Jonkman, M. F., Nuijts, M. Castellanos, Van Essen, A. J.
Published in Clinical and experimental dermatology (01.11.2003)
Published in Clinical and experimental dermatology (01.11.2003)
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Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis
Rump, P., Zeegers, M.P.A., van Essen, A.J.
Published in American journal of medical genetics. Part A (01.07.2005)
Published in American journal of medical genetics. Part A (01.07.2005)
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Neurofibromatosis type I and pregnancy: a fatal attraction?: Development of malignant schwannoma during pregnancy in a patient with neurofibromatosis type I
Posma, E, Aalbers, R, Kurniawan, Y.S, van Essen, A.J, Peeters, P.M.J.G, van Loon, A.J
Published in BJOG : an international journal of obstetrics and gynaecology (01.05.2003)
Published in BJOG : an international journal of obstetrics and gynaecology (01.05.2003)
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Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele
Rump, P., Letteboer, T.G.W., Gille, J.J.P., Torringa, M.J.L., Baerts, W., van Gestel, J.P.J., Verheij, J.B.G.M., van Essen, A.J.
Published in American journal of medical genetics. Part A (01.02.2006)
Published in American journal of medical genetics. Part A (01.02.2006)
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A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration : evidence for a founder effect
RUMP, P, LEMMINK, H. H, VERSCHUUREN-BEMELMANS, C. C, GROOTSCHOLTEN, P. M, FOCK, J. M, HAYFLICK, S. J, WESTAWAY, S. K, VOS, Y. J, VAN ESSEN, A. J
Published in Neurogenetics (01.12.2005)
Published in Neurogenetics (01.12.2005)
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Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?
Badeloe, S., Van Spaendonck-Zwarts, K.Y., Van Steensel, M.A.M., Van Marion, A.M.W., Van Essen, A.J., Jonkman, M.F., Steijlen, P.M., Poblete-Gutiérrez, P., Van Geel, M., Frank, J.
Published in British journal of dermatology (1951) (01.03.2009)
Published in British journal of dermatology (1951) (01.03.2009)
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High Rate of Mosaicism in Tuberous Sclerosis Complex
Verhoef, Senno, Bakker, Lida, Tempelaars, Anita M.P., Hesseling-Janssen, Arjenne L.W., Mazurczak, Tadeusz, Jozwiak, Sergiusz, Fois, Alberto, Bartalini, Gabriella, Zonnenberg, Bernard A., van Essen, Anthonie J., Lindhout, Dick, Halley, Dicky J.J., van den Ouweland, Ans M.W.
Published in American journal of human genetics (01.06.1999)
Published in American journal of human genetics (01.06.1999)
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Intravascular ultrasonography allows accurate assessment of abdominal aortic aneurysm: An in vitro validation study
van Essen, Jeroen A., van der Lugt, Aad, Gussenhoven, Elma J., Leertouwer, Trude C., Zondervan, Pieter, van Sambeek, Marc R.H.M.
Published in Journal of vascular surgery (01.02.1998)
Published in Journal of vascular surgery (01.02.1998)
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Journal Article
Accurate assessment of abdominal aortic aneurysm with intravascular ultrasound scanning: Validation with computed tomographic angiography
van Essen, Jeroen A., Gussenhoven, Elma J., van der Lugt, Aad, Huijsman, Paul C., van Muiswinkel, Johannes M., van Sambeek, Marc R.H.M., van Dijk, Lukas C., van Urk, Hero
Published in Journal of vascular surgery (01.04.1999)
Published in Journal of vascular surgery (01.04.1999)
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Journal Article
A Hirschsprung disease locus at 22q11?
Kerstjens-Frederikse, W S, Hofstra, R M W, van Essen, A J, Meijers, J H C, Buys, C H C M
Published in Journal of medical genetics (01.03.1999)
Published in Journal of medical genetics (01.03.1999)
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Risk of Regional Recurrence After Negative Repeat Sentinel Lymph Node Biopsy in Patients with Ipsilateral Breast Tumor Recurrence
Poodt, Ingrid G. M., Vugts, Guusje, Maaskant-Braat, Adriana J. G., Schipper, Robert-Jan, Voogd, Adri C., Nieuwenhuijzen, Grard A. P.
Published in Annals of surgical oncology (01.05.2018)
Published in Annals of surgical oncology (01.05.2018)
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