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The Capital Region of Denmark - a part of Copenhagen University Hospital

Journal of Medical Genetics, ‎0022-2593

Journal

  1. 2022
  2. Published

    Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study

    Kenborg, L., Boschini, C., Bidstrup, P. E., Dalton, S. O., Doser, K., Nielsen, T. T., Krøyer, A., Johansen, C., Frederiksen, K., Sørensen, S. A., Hove, H., Østergaard, J. R., Mulvihill, J. J. & Winther, J. F., Mar 2022, In: Journal of Medical Genetics. 59, 3, p. 237-242 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Adult phenotype of KCNQ2 encephalopathy

    Boets, S., Johannesen, K. M., Destree, A., Manti, F., Ramantani, G., Lesca, G., Vercueil, L., Koenig, M. K., Striano, P., Møller, R. S., Cooper, E. & Weckhuysen, S., 2022, (E-pub ahead of print) In: Journal of Medical Genetics. 107449.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. E-pub ahead of print

    Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure

    Christensen, A. H., Platonov, P. G., Jensen, H. K., Chivulescu, M., Svensson, A., Dahlberg, P., Madsen, T., Frederiksen, T. C., Heliö, T., Lie, Ø. H., Haugaa, K. H., Hastrup Svendsen, J. & Bundgaard, H., 2022, (E-pub ahead of print) In: Journal of Medical Genetics. p. epub

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. E-pub ahead of print

    Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

    Björkman, K., Vissing, J., Østergaard, E., Bindoff, L. A., de Coo, I. F. M., Engvall, M., Hikmat, O., Isohanni, P., Kollberg, G., Lindberg, C., Majamaa, K., Naess, K., Uusimaa, J., Tulinius, M. & Darin, N., 2022, (E-pub ahead of print) In: Journal of Medical Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2021
  7. Published

    Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences

    Vissing, C. R., Rasmussen, T. B., Dybro, A. M., Olesen, M. S., Pedersen, L. N., Jensen, M., Bundgaard, H. & Christensen, A. H., Dec 2021, In: Journal of Medical Genetics. 58, 12, p. 832-841 10 p., 107178.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort

    Effraimidis, G., Feldt-Rasmussen, U., Rasmussen, Å. K., Lavoie, P., Abaoui, M., Boutin, M. & Auray-Blais, C., 1 Oct 2021, In: Journal of Medical Genetics. 58, 10, p. 692-700 9 p., 107162.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer

    Song, H., Dicks, E. M., Tyrer, J., Intermaggio, M., Chenevix-Trench, G., Bowtell, D. D., Traficante, N., Group, A., Brenton, J., Goranova, T., Hosking, K., Piskorz, A., van Oudenhove, E., Doherty, J., Harris, H. R., Rossing, M. A., Duerst, M., Dork, T., Bogdanova, N. V., Modugno, F. & 31 others, Moysich, K., Odunsi, K., Ness, R., Karlan, B. Y., Lester, J., Jensen, A., Krüger Kjaer, S., Høgdall, E., Campbell, I. G., Lázaro, C., Pujara, M. A., Cunningham, J., Vierkant, R., Winham, S. J., Hildebrandt, M., Huff, C., Li, D., Wu, X., Yu, Y., Permuth, J. B., Levine, D. A., Schildkraut, J. M., Riggan, M. J., Berchuck, A., Webb, P. M., Group, O. S., Cybulski, C., Gronwald, J., Jakubowska, A., Lubinski, J. & OCAC, May 2021, In: Journal of Medical Genetics. 58, 5, p. 305-313 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2020
  11. Published
  12. 2018
  13. Published

    Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

    Sofou, K., de Coo, I. F. M., Ostergaard, E., Isohanni, P., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., Lönnqvist, T., Bindoff, L. A., Tulinius, M. & Darin, N., Jan 2018, In: Journal of Medical Genetics. 55, 1, p. 21-27 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

    Moghadasi, S., Meeks, H. D., Vreeswijk, M. P., Janssen, L. A., Borg, Å., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Hansen, T. V. O., Thomassen, M., Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A-M., Pedersen, I. S., Caputo, S. M., Couch, F. & 20 others, Hallberg, E. J., van den Ouweland, A. M., Collée, M. J., Teugels, E., Adank, M. A., van der Luijt, R. B., Mensenkamp, A. R., Oosterwijk, J. C., Blok, M. J., Janin, N., Claes, K. B., Tucker, K., Viassolo, V., Toland, A. E., Eccles, D. E., Devilee, P., Van Asperen, C. J., Spurdle, A. B., Goldgar, D. E. & García, E. G., 2018, In: Journal of Medical Genetics. 55, 1, p. 15-20

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2017
  16. Published

    A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

    Chattaraj, P., Munjal, T., Honda, K., Rendtorff, N. D., Ratay, J. S., Muskett, J. A., Risso, D. S., Roux, I., Gertz, E. M., Schäffer, A. A., Friedman, T. B., Morell, R. J., Tranebjærg, L. & Griffith, A. J., Oct 2017, In: Journal of Medical Genetics. 54, 10, p. 665-673 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published
  18. Published

    Carriers of a VEGFA enhancer polymorphism selectively binding CHOP/DDIT3 are predisposed to increased circulating levels of thyroid-stimulating hormone

    Ahluwalia, T. S., Troelsen, J. T., Balslev-Harder, M., Bork-Jensen, J., Thuesen, B. H., Cerqueira, C., Linneberg, A., Grarup, N., Pedersen, O., Hansen, T. & Dalgaard, L. T., Mar 2017, In: Journal of Medical Genetics. 54, 3, p. 166-175

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

    Hughes, D. A., Nicholls, K., Shankar, S. P., Sunder-Plassmann, G., Koeller, D., Nedd, K., Vockley, G., Hamazaki, T., Lachmann, R., Ohashi, T., Olivotto, I., Sakai, N., Deegan, P., Dimmock, D., Eyskens, F., Germain, D. P., Goker-Alpan, O., Hachulla, E., Jovanovic, A., Lourenco, C. M. & 18 others, Narita, I., Thomas, M., Wilcox, W. R., Bichet, D. G., Schiffmann, R., Ludington, E., Viereck, C., Kirk, J., Yu, J., Johnson, F., Boudes, P., Benjamin, E. R., Lockhart, D. J., Barlow, C., Skuban, N., Castelli, J. P., Barth, J. & Feldt-Rasmussen, U., 2017, In: Journal of Medical Genetics. 54, 4, p. 288-96

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. 2016
  21. Published

    PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

    Southey, M. C., Goldgar, D. E., Winqvist, R., Pylkäs, K., Couch, F., Tischkowitz, M., Foulkes, W. D., Dennis, J., Michailidou, K., van Rensburg, E. J., Heikkinen, T., Nevanlinna, H., Hopper, J. L., Dörk, T., Claes, K. B., Reis-Filho, J., Teo, Z. L., Radice, P., Catucci, I., Peterlongo, P. & 31 others, Tsimiklis, H., Odefrey, F. A., Dowty, J. G., Schmidt, M. K., Broeks, A., Hogervorst, F. B., Verhoef, S., Carpenter, J., Clarke, C., Scott, R. J., Fasching, P. A., Haeberle, L., Ekici, A. B., Beckmann, M. W., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Bolla, M. K., Bojesen, S., Nielsen, S. F., Flyger, H., Nordestgaard, B. G., Weischer, M., Kjaer, S. K., Høgdall, E. V. S., Høgdall, C. K., Lundvall, L., Nedergaard, L., Engelholm, S. A. & Australian Ovarian Cancer Study Group, Dec 2016, In: Journal of Medical Genetics. 53, 12, p. 800-811 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Functional and genetic epidemiological characterisation of the FFAR4 (GPR120) p.R270H variant in the Danish population

    Vestmar, M. A., Andersson, E. A., Christensen, C. R., Hauge, M., Glümer, C., Linneberg, A., Witte, D. R., Jørgensen, M. E., Christensen, C., Brandslund, I., Lauritzen, T., Pedersen, O., Holst, B., Grarup, N., Schwartz, T. W. & Hansen, T., Sep 2016, In: Journal of Medical Genetics. 53, 9, p. 616-23 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    Ng, Y. S., Alston, C. L., Diodato, D., Morris, A. A., Ulrick, N., Kmoch, S., Houštěk, J., Martinelli, D., Haghighi, A., Atiq, M., Gamero, M. A., Garcia-Martinez, E., Kratochvílová, H., Santra, S., Brown, R. M., Brown, G. K., Ragge, N., Monavari, A., Pysden, K., Ravn, K. & 14 others, Casey, J. P., Khan, A., Chakrapani, A., Vassallo, G., Simons, C., McKeever, K., O'Sullivan, S., Childs, A-M., Østergaard, E., Vanderver, A., Goldstein, A., Vogt, J., Taylor, R. W. & McFarland, R., 13 Jul 2016, In: Journal of Medical Genetics. 53, p. 768-775

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

    Easton, D. F., Lesueur, F., Decker, B., Michailidou, K., Li, J., Allen, J., Luccarini, C., Pooley, K. A., Shah, M., Bolla, M. K., Wang, Q., Dennis, J., Ahmad, J., Thompson, E. R., Damiola, F., Pertesi, M., Voegele, C., Mebirouk, N., Robinot, N., Durand, G. & 31 others, Forey, N., Luben, R. N., Ahmed, S., Aittomäki, K., Anton-Culver, H., Arndt, V., Baynes, C., Beckman, M. W., Benitez, J., Van Den Berg, D., Blot, W. J., Bogdanova, N. V., Bojesen, S. E., Brenner, H., Chang-Claude, J., Chia, K. S., Choi, J-Y., Conroy, D. M., Cox, A., Cross, S. S., Czene, K., Darabi, H., Devilee, P., Eriksson, M., Fasching, P. A., Figueroa, J., Flyger, H., Fostira, F., García-Closas, M., Giles, G. G. & Australian Ovarian Cancer Study Group, May 2016, In: Journal of Medical Genetics. 53, 5, p. 298-309 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. 2015
  26. Published

    Melanoma genetics

    Read, J., Wadt, K. A. W. & Hayward, N. K., 3 Sep 2015, In: Journal of Medical Genetics. 53, 1, p. 1-14

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

    van der Post, R. S., Vogelaar, I. P., Carneiro, F., Guilford, P., Huntsman, D., Hoogerbrugge, N., Caldas, C., Schreiber, K. E. C., Hardwick, R. H., Ausems, M. G. E. M., Bardram, L., Benusiglio, P. R., Bisseling, T. M., Blair, V., Bleiker, E., Boussioutas, A., Cats, A., Coit, D., DeGregorio, L., Figueiredo, J. & 28 others, Ford, J. M., Heijkoop, E., Hermens, R., Humar, B., Kaurah, P., Keller, G., Lai, J., Ligtenberg, M. J. L., O'Donovan, M., Oliveira, C., Pinheiro, H., Ragunath, K., Rasenberg, E., Richardson, S., Roviello, F., Schackert, H., Seruca, R., Taylor, A., Ter Huurne, A., Tischkowitz, M., Joe, S. T. A., van Dijck, B., van Grieken, N. C. T., van Hillegersberg, R., van Sandick, J. W., Vehof, R., van Krieken, J. H. & Fitzgerald, R. C., Jun 2015, In: Journal of Medical Genetics. 52, 6, p. 361-74 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

    Ostergaard, E., Weraarpachai, W., Ravn, K., Born, A. P., Jønson, L., Duno, M., Wibrand, F., Shoubridge, E. A. & Vissing, J., 20 Jan 2015, In: Journal of Medical Genetics. 52, 3, p. 203-07

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. 2014
  30. Published

    A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups

    Londono, D., Kou, I., Johnson, T. A., Sharma, S., Ogura, Y., Tsunoda, T., Takahashi, A., Matsumoto, M., Herring, J. A., Lam, T-P., Wang, X., Tam, E. M. S., Song, Y-Q., Fan, Y-H., Chan, D., Cheah, K. S. E., Qiu, X., Jiang, H., Huang, D., TSRHC IS Clinical Group & 13 others, International Consortium for Scoliosis Genetics, Su, P., Sham, P., Cheung, K. M. C., Luk, K. D. K., Gordon, D., Qiu, Y., Cheng, J., Tang, N., Ikegawa, S., Wise, C. A., Japanese Scoliosis Clinical Research Group & Dahl, B., Jun 2014, In: Journal of Medical Genetics. 51, 6, p. 401-6 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD)

    Wimmer, K., Kratz, C. P., Vasen, H. F. A., Caron, O., Colas, C., Entz-Werle, N., Gerdes, A-M., Goldberg, Y., Ilencikova, D., Muleris, M., Duval, A., Lavoine, N., Ruiz-Ponte, C., Slavc, I., Burkhardt, B., Brugieres, L. & EU-Consortium Care for CMMRD (C4CMMRD), Jun 2014, In: Journal of Medical Genetics. 51, 6, p. 355-65 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

    Thevenon, J., Callier, P., Poquet, H., Bache, I., Menten, B., Malan, V., Cavaliere, M. L., Girod, J-P., Thauvin-Robinet, C., El Chehadeh, S., Pinoit, J-M., Huet, F., Verges, B., Petit, J-M., Mosca-Boidron, A-L., Marle, N., Mugneret, F., Masurel-Paulet, A., Novelli, A., Tümer, Z. & 3 others, Loeys, B., Lyonnet, S. & Faivre, L., Jan 2014, In: Journal of Medical Genetics. 51, 1, p. 21-7 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. 2013
  34. Published
  35. Published

    Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

    Nota, B., Hamilton, E. M., Sie, D., Ozturk, S., van Dooren, S. J. M., Ojeda, M. R. F., Jakobs, C., Christensen, E., Kirk, E. P., Sykut-Cegielska, J., Lund, A. M., van der Knaap, M. S. & Salomons, G. S., Nov 2013, In: Journal of Medical Genetics. 50, 11, p. 754-9 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients

    Rauch, F., Moffatt, P., Cheung, M., Roughley, P., Lalic, L., Lund, A. M., Ramirez, N., Fahiminiya, S., Majewski, J. & Glorieux, F. H., Jan 2013, In: Journal of Medical Genetics. 50, 1, p. 21-4 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. 2012
  38. Published

    A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation

    Dalgaard, M. D., Weinhold, N., Edsgärd, D., Silver, J. D., Pers, T. H., Nielsen, J. E., Jørgensen, N., Juul, A., Gerds, T. A., Giwercman, A., Giwercman, Y. L., Cohn-Cedermark, G., Virtanen, H. E., Toppari, J., Daugaard, G., Jensen, T. S., Brunak, S., Rajpert-De Meyts, E., Skakkebæk, N. E., Leffers, H. & 1 others, Gupta, R., 2012, In: Journal of Medical Genetics. 49, 1, p. 58-65 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

    Molin, A-M., Andrieux, J., Koolen, D. A., Malan, V., Carella, M., Colleaux, L., Cormier-Daire, V., David, A., de Leeuw, N., Delobel, B., Duban-Bedu, B., Fischetto, R., Flinter, F., Kjaergaard, S., Kok, F., Krepischi, A. C., Le Caignec, C., Ogilvie, C. M., Maia, S., Mathieu-Dramard, M. & 15 others, Munnich, A., Palumbo, O., Papadia, F., Pfundt, R., Reardon, W., Receveur, A., Rio, M., Ronsbro Darling, L., Rosenberg, C., Sá, J., Vallee, L., Vincent-Delorme, C., Zelante, L., Bondeson, M-L. & Annerén, G., 2012, In: Journal of Medical Genetics. 49, 2, p. 104-9 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

    Spurdle, A. B., Whiley, P. J., Thompson, B., Feng, B., Healey, S., Brown, M. A., Pettigrew, C., Van Asperen, C. J., Ausems, M. G. E. M., Kattentidt-Mouravieva, A. A., van den Ouweland, A. M. W., Lindblom, A., Pigg, M. H., Schmutzler, R. K., Engel, C., Meindl, A., Caputo, S., Sinilnikova, O. M., Lidereau, R., Couch, F. J. & 14 others, Guidugli, L., Hansen, T. V. O., Thomassen, M., Eccles, D. M., Tucker, K., Benitez, J., Domchek, S. M., Toland, A. E., Van Rensburg, E. J., Wappenschmidt, B., Borg, Å., Vreeswijk, M. P. G., Goldgar, D. E. & kConFab, 2012, In: Journal of Medical Genetics. 49, 8, p. 525-32 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. 2011
  42. Published

    Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

    Grønskov, K., Poole, R. L., Hahnemann, J. M. D., Thomson, J., Tümer, Z., Brøndum-Nielsen, K., Murphy, R., Ravn, K., Melchior, L., Dedic, A., Dolmer, B. S., Temple, I. K., Boonen, S. E. & Mackay, D. J. G., May 2011, In: Journal of Medical Genetics. 48, 5, p. 308-11 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis

    Nytofte, N. S., Serrano, M. A., Monte, M. J., Gonzalez-Sanchez, E., Tumer, Z., Ladefoged, K., Briz, O. & Marin, J. J. G., Apr 2011, In: Journal of Medical Genetics. 48, 4, p. 219-25 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

    Milne, R. L., Lorenzo-Bermejo, J., Burwinkel, B., Malats, N., Arias, J. I., Zamora, M. P., Benítez, J., Humphreys, M. K., García-Closas, M., Chanock, S. J., Lissowska, J., Sherman, M. E., Mannermaa, A., Kataja, V., Kosma, V-M., Nevanlinna, H., Heikkinen, T., Aittomäki, K., Blomqvist, C., Anton-Culver, H. & 31 others, Ziogas, A., Devilee, P., van Asperen, C. J., Tollenaar, R. A. E. M., Seynaeve, C., Hall, P., Czene, K., Liu, J., Irwanto, A. K., Kang, D., Yoo, K-Y., Noh, D-Y., Couch, F. J., Olson, J. E., Wang, X., Fredericksen, Z., Nordestgaard, B. G., Bojesen, S. E., Flyger, H., Margolin, S., Lindblom, A., Fasching, P. A., Schulz-Wendtland, R., Ekici, A. B., Beckmann, M. W., Wang-Gohrke, S., Shen, C-Y., Yu, J-C., Hsu, H-M., Wu, P-E. & AOCS Group, 2011, In: Journal of Medical Genetics. 48, 10, p. 698-702 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

    Ostergaard, E., Rodenburg, R. J., van den Brand, M., Thomsen, L. L., Duno, M., Batbayli, M., Wibrand, F. & Nijtmans, L., 2011, In: Journal of Medical Genetics. 48, 11, p. 737-40 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. 2010
  47. Published
  48. Published

    Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

    Østergaard, E., Batbayli, M., Dunø, M., Vilhelmsen, K. & Rosenberg, T., 1 Oct 2010, In: Journal of Medical Genetics. 47, 10, p. 665-9 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

    Rouzier, C., Le Guédard-Méreuze, S., Fragaki, K., Serre, V., Miro, J., Tuffery-Giraud, S., Chaussenot, A., Bannwarth, S., Caruba, C., Østergaard, E., Pellissier, J-F., Richelme, C., Espil, C., Chabrol, B. & Paquis-Flucklinger, V., 1 Oct 2010, In: Journal of Medical Genetics. 47, 10, p. 670-6 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

    Vega, H., Trainer, A. H., Gordillo, M., Crosier, M., Kayserili, H., Skovby, F., Uzielli, M. L. G., Schnur, R. E., Manouvrier, S., Blair, E., Hurst, J. A., Forzano, F., Meins, M., Simola, M. K., Raas-Rothschild, A., Hennekam, R. C. M. & Jabs, E. W., 1 Jan 2010, In: Journal of Medical Genetics. 47, 1, p. 30-7 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. 2009
  52. Published

    Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background

    Krausz, C., Giachini, C., Xue, Y., O'Bryan, M. K., Gromoll, J., Rajpert-De Meyts, E., Oliva, R., Aknin-Seifer, I., Erdei, E., Jorgensen, N., Simoni, M., Ballescà, J. L., Levy, R., Balercia, G., Piomboni, P., Nieschlag, E., Forti, G., McLachlan, R. & Tyler-Smith, C., Jan 2009, In: Journal of Medical Genetics. 46, 1, p. 21-31 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

    Roos, L., Jønch, A. E., Kjaergaard, S., Taudorf, K., Simonsen, H., Hamborg-Petersen, B., Brøndum-Nielsen, K. & Kirchhoff, M., 2009, In: Journal of Medical Genetics. 46, 10, p. 703-10 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. 2008
  55. Published

    A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

    Clendenning, M., Senter, L., Hampel, H., Robinson, K. L., Sun, S., Buchanan, D., Walsh, M. D., Nilbert, M., Green, J. S., Potter, J., Lindblom, A. & de la Chapelle, A., 2008, In: Journal of Medical Genetics. 45, p. 340-45

    Research output: Contribution to journalJournal articleResearchpeer-review

  56. 2007
  57. Published

    A functional CD86 polymorphism associated with asthma and related allergic disorders.

    Corydon, T. J., Haagerup, A., Jensen, T. G., Binderup, H. G., Petersen, M. S., Kaltoft, K., Vestbo, J., Kruse, T. A. & Børglum, A. D., 2007, In: Journal of Medical Genetics. 44, 8, p. 509-15 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  58. 2006
  59. Published

    Highly significant linkage to chromosome 3q13.31 for rhinitis and related allergic diseases

    Brasch-Andersen, C., Haagerup, A., Borglum, AD., Vestbo, J. & Kruse, TA., 2006, In: J Med Genet. 43, 3, p. e10

    Research output: Contribution to journalJournal articleResearchpeer-review

  60. 2004
  61. Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes

    Bergholdt, R., Ghandil, P., Johannesen, J., Kristiansen, O. P., Kockum, I., Luthman, H., Rønningen, K. S., Nerup, J., Julier, C. & Pociot, F., Apr 2004, In: Journal of Medical Genetics. 41, 4, p. e39

    Research output: Contribution to journalJournal articleResearchpeer-review

  62. Published

    Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates

    Jeganathan, D., Chodhari, R., Meeks, M., Faeroe, O., Smyth, D., Nielsen, K., Amirav, I., Luder, A. S., Bisgaard, H., Gardiner, R. M., Chung, E. M. K. & Mitchison, H. M., Mar 2004, In: Journal of Medical Genetics. 41, 3, p. 233-40 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  63. 1981
  64. Published

    A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child

    Tabor, A., Jensen, L. K., Lundsteen, C. & Niebuhr, E., Aug 1981, In: Journal of Medical Genetics. 18, 4, p. 307-9 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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