Jens Erik Klint Nielsen

Acute flaccid rhombencephalomyelitis with radiculitis in a child with an enterovirus A71 infection seen for the first time in Denmark: a case report

Foli-Andersen, P. J., Munkholm, A., Rønde, G., Børresen, M. L., Nielsen, Jens Erik Klint, Midgley, S. & Bang, Didi Dyveke, 2022, In: Journal of Medical Case Reports. 16, 1, 5 p., 32.

Research output: Contribution to journal › Journal article › Research › peer-review

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1

Faergeman, S. L., Bojesen, A. B., Rasmussen, M., Becher, N., Andreasen, L., Andersen, B. N., Erbs, E., Lildballe, D. L., Nielsen, Jens Erik Klint, Zilmer, M., Hammer, T. B., Andersen, M., Brasch-Andersen, C., Fagerberg, C. R., Illum, N. O., Thorup, M. B. & Gregersen, P. A., Sep 2021, In: European Journal of Medical Genetics. 64, 9, 104280.

Research output: Contribution to journal › Journal article › Research › peer-review

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

Oates, S., Absoud, M., Goyal, S., Bayley, S., Baulcomb, J., Sims, A., Riddett, A., Allis, K., Brasch-Andersen, C., Balasubramanian, M., Bai, R., Callewaert, B., Hüffmeier, U., Le Duc, D., Radtke, M., Korff, C., Kennedy, J., Low, K., Møller, R. S., Nielsen, J. E. K. & 15 others, Popp, B., Quteineh, L., Rønde, G., Schönewolf-Greulich, B., Shillington, A., Taylor, M. R. G., Todd, E., Torring, P. M., Tümer, Asuman Zeynep, Vasileiou, G., Yates, T. M., Zweier, C., Rosch, R., Basson, M. A. & Pal, D. K., 2021, In: Clinical Genetics. 100, 4, p. 412-429

Research output: Contribution to journal › Journal article › Research › peer-review

Epilepsy features in ARID1B-related Coffin-Siris syndrome

Proietti, J., Amadori, E., Striano, P., Ricci, E., Cordelli, D. M., Bana, C., Dilena, R., Gardella, E., Nielsen, Jens Erik Klint, Pisani, F., Lo Barco, T., Fiorini, E., Fontana, E., Darra, F., Dalla Bernardina, B. & Cantalupo, G., 2021, In: Epileptic Disorders. 23, 6, p. 865-874 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Mowat-Wilson syndrome: growth charts

Ivanovski, I., Djuric, O., Broccoli, S., Caraffi, S. G., Accorsi, P., Adam, M. P., Avela, K., Badura-Stronka, M., Bayat, A., Clayton-Smith, J., Cocco, I., Cordelli, D. M., Cuturilo, G., Di Pisa, V., Dupont Garcia, J., Gastaldi, R., Giordano, L., Guala, A., Hoei-Hansen, C., Inaba, M. & 33 others, Iodice, A., Nielsen, Jens Erik Klint, Kuburovic, V., Lazalde-Medina, B., Malbora, B., Mizuno, S., Moldovan, O., Møller, R. S., Muschke, P., Otelli, V., Pantaleoni, C., Piscopo, C., Poch-Olive, M. L., Prpic, I., Marín Reina, P., Raviglione, F., Ricci, E., Scarano, E., Simonte, G., Smigiel, R., Tanteles, G., Tarani, L., Trimouille, A., Valera, E. T., Schrier Vergano, S., Writzl, K., Callewaert, B., Savasta, S., Street, M. E., Iughetti, L., Bernasconi, S., Giorgi Rossi, P. & Garavelli, L., 2020, In: Orphanet Journal of Rare Diseases. 15, 12 p., 151.

Research output: Contribution to journal › Journal article › Research › peer-review

Alice in Wonderland-syndrom kan forveksles med angst

Rasmussen, P. D., Vilmar, Janne Walløe & Nielsen, Jens Erik Klint, 2019, In: Ugeskrift for Laeger. 181, 2 p., V02190105.

Research output: Contribution to journal › Letter › Research › peer-review

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Ajmone, P. F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G. & 30 others, Cuturilo, G., De Brasi, D., Devriendt, K., Dinulos, M. B., Hjortshøj, Tina Duelund, Epifanio, R., Faravelli, F., Fiumara, A., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Kuburovic, V., Kutkowska-Kazmierczak, A., Lacombe, D., Lo Rizzo, C., Luchetti, A., Malbora, B., Mammi, I., Mari, F., Montorsi, G., Moutton, S., Møller, R. S., Muschke, P., Nielsen, Jens Erik Klint, Obersztyn, E., Pantaleoni, C. & Pellicciari, A., 1 Sep 2018, In: Genetics in Medicine. 20, 9, p. 965-975 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Ajmone, P. F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G. & 60 others, Cuturilo, G., De Brasi, D., Devriendt, K., Dinulos, M. B., Hjortshøj, T. D., Epifanio, R., Faravelli, F., Fiumara, A., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Kuburovic, V., Kutkowska-Kazmierczak, A., Lacombe, D., Lo Rizzo, C., Luchetti, A., Malbora, B., Mammi, I., Mari, F., Montorsi, G., Moutton, S., Møller, R. S., Muschke, P., Nielsen, Jens Erik Klint, Obersztyn, E., Pantaleoni, C., Pellicciari, A., Pisanti, M. A., Prpic, I., Poch-Olive, M. L., Raviglione, F., Renieri, A., Ricci, E., Rivieri, F., Santen, G. W., Savasta, S., Scarano, G., Schanze, I., Selicorni, A., Silengo, M., Smigiel, R., Spaccini, L., Sorge, G., Szczaluba, K., Tarani, L., Tone, L. G., Toutain, A., Trimouille, A., Valera, E. T., Vergano, S. S., Zanotta, N., Zenker, M., Conidi, A., Zollino, M., Rauch, A., Zweier, C. & Garavelli, L., 2018, In: Genetics In Medicine. 20, 9, p. 965-975

Research output: Contribution to journal › Journal article › Research › peer-review

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

Møller, R. S., Larsen, L. H. G., Johannesen, K. M., Talvik, I., Talvik, T., Vaher, U., Miranda, M. J., Farooq, M., Nielsen, J. E. K., Svendsen, L. L., Kjelgaard, D. B., Linnet, K. M., Hao, Q., Uldall, P., Frangu, M., Tommerup, N., Baig, S. M., Abdullah, U., Born, A. P., Gellert, P. & 12 others, Nikanorova, M., Olofsson, K., Jepsen, B., Marjanovic, D., Al-Zehhawi, L. I. K., Peñalva, S. J., Krag-Olsen, B., Brusgaard, K., Hjalgrim, H., Rubboli, G., Pal, D. K. & Dahl, H. A., Sep 2016, In: Molecular Syndromology. 7, 4, p. 210-219 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

TARGETED NEXT GENERATION SEQUENCING AS A DIAGNOSTIC TOOL IN 163 PATIENTS WITH EPILEPTIC ENCEPHALOPATHIES

Dahl, H. A., Larsen, L. H. G., Olofsson, K., Miranda, M., Nielsen, J. E. K., Lavard, L., Linnet, K., Uldall, P., Talvik, T., Talvik, I., Frangu, M., Born, P., Gellert, P., Nikanorova, M., Jepsen, B., Marjanovic, D., Kragh-Olsen, B., Mosbech, M. -B., Hao, Q., Brusgaard, K. & 2 others, Hjalgrim, H. & Moller, R. S., Dec 2015, In: Epilepsia. 56, Supplement S1, p. 72-73

Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

The phenotypic spectrum of SCN8A encephalopathy

Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., Kirkpatrick, M., Goudie, D., Goldman, R., Jähn, J. A., Jepsen, B., Gill, D., Döcker, M., Biskup, S., McMahon, J. M., Koeleman, B. & 18 others, Harris, M., Braun, K., de Kovel, C. G. F., Marini, C., Specchio, N., Djémié, T., Weckhuysen, S., Tommerup, Niels, Troncoso, M., Troncoso, L., Bevot, A., Wolff, M., Hjalgrim, H., Guerrini, R., Scheffer, I. E., Mefford, H. C., Møller, R. S. & EuroEPINOMICS RES Consortium CRP, E. R. C. C., 3 Feb 2015, In: Neurology. 84, 5, p. 480-9 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Cerebral infarct eight months after primary Varicella-zoster virus infection.

Bjerrum, M. C., Nielsen, Jens Erik Klint & Nordling, M. M., 25 Nov 2013, In: Ugeskrift for Laeger. 175, 48A

Research output: Contribution to journal › Journal article › Research › peer-review

Expression of the vitamin D metabolizing enzyme CYP24A1 at the annulus of human spermatozoa may serve as a novel marker of semen quality

Jensen, Martin Blomberg, Jørgensen, A., Nielsen, Jens Erik Klint, Bjerrum, P. J., Skalkam, M., Petersen, Jørgen Holm, Egeberg, D. L., Bangsbøll, S., Andersen, A. N., Skakkebæk, Niels Erik, Juul, Anders, Rajpert-De Meyts, E., Dissing, Steen, Leffers, H. & Jørgensen, N., 2012, In: International Journal of Andrology. 35, 4, p. 499-510 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review