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Items: 1 to 20 of 112

1.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LT, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR.

J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042.

PMID:
27577878
2.

Two male sibs with severe micrognathia and a missense variant in MED12.

Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A.

Eur J Med Genet. 2016 Aug;59(8):367-72. doi: 10.1016/j.ejmg.2016.06.001.

PMID:
27286923
3.

Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.

Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K.

PLoS One. 2015 Aug 13;10(8):e0136011. doi: 10.1371/journal.pone.0136011. No abstract available.

4.

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.

Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K.

PLoS One. 2015 Jul 8;10(7):e0131637. doi: 10.1371/journal.pone.0131637. Erratum in: PLoS One. 2015;10(8):e0136011.

5.

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

Heimdal K, Dalhus B, Rødningen OK, Kroken M, Eiklid K, Dheyauldeen S, Røysland T, Andersen R, Kulseth MA.

Clin Genet. 2016 Feb;89(2):182-6. doi: 10.1111/cge.12612.

PMID:
25970827
6.

Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families.

McMaster ML, Heimdal KR, Loud JT, Bracci JS, Rosenberg PS, Greene MH.

Cancer Med. 2015 Jul;4(7):1069-78. doi: 10.1002/cam4.450.

7.

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.

Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S.

Orphanet J Rare Dis. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0.

8.

National registries of rare diseases in Europe: an overview of the current situation and experiences.

Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov R, Steinmueller C, Swinnen E, Van Oyen H.

Public Health Genomics. 2015;18(1):20-5. doi: 10.1159/000365897.

PMID:
25228300
9.

Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.

Papathomas TG, Gaal J, Corssmit EP, Oudijk L, Korpershoek E, Heimdal K, Bayley JP, Morreau H, van Dooren M, Papaspyrou K, Schreiner T, Hansen T, Andresen PA, Restuccia DF, van Kessel I, van Leenders GJ, Kros JM, Looijenga LH, Hofland LJ, Mann W, van Nederveen FH, Mete O, Asa SL, de Krijger RR, Dinjens WN.

Eur J Endocrinol. 2013 Nov 22;170(1):1-12. doi: 10.1530/EJE-13-0623.

10.

The cardiac phenotype in patients with a CHD7 mutation.

Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L.

Circ Cardiovasc Genet. 2013 Jun;6(3):248-54.

11.

Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome.

Østertun Geirdal A, Øverland B, Heimdal K, Storhaug K, Asten P, Akre H.

Eur Arch Otorhinolaryngol. 2013 Nov;270(11):2879-84. doi: 10.1007/s00405-013-2409-0.

PMID:
23455582
12.

Pathogenesis of the syndrome of hemolysis, elevated liver enzymes, and low platelet count (HELLP): a review.

Abildgaard U, Heimdal K.

Eur J Obstet Gynecol Reprod Biol. 2013 Feb;166(2):117-23. doi: 10.1016/j.ejogrb.2012.09.026. Review.

PMID:
23107053
13.

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ.

Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224.

PMID:
23033313
14.

A puzzling case of increased serum clozapine levels in a patient with inflammation and infection.

Espnes KA, Heimdal KO, Spigset O.

Ther Drug Monit. 2012 Oct;34(5):489-92. doi: 10.1097/FTD.0b013e3182666c62.

PMID:
22929408
15.

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ, Van Maldergem L, Urban Z, De Paepe A.

Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165.

16.

Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families.

Bailey-Wilson JE, Childs EJ, Cropp CD, Schaid DJ, Xu J, Camp NJ, Cannon-Albright LA, Farnham JM, George A, Powell I, Carpten JD, Giles GG, Hopper JL, Severi G, English DR, Foulkes WD, Mæhle L, Møller P, Eeles R, Easton D, Guy M, Edwards S, Badzioch MD, Whittemore AS, Oakley-Girvan I, Hsieh CL, Dimitrov L, Stanford JL, Karyadi DM, Deutsch K, McIntosh L, Ostrander EA, Wiley KE, Isaacs SD, Walsh PC, Thibodeau SN, McDonnell SK, Hebbring S, Lange EM, Cooney KA, Tammela TL, Schleutker J, Maier C, Bochum S, Hoegel J, Grönberg H, Wiklund F, Emanuelsson M, Cancel-Tassin G, Valeri A, Cussenot O, Isaacs WB; International Consortium for Prostate Cancer Genetics..

BMC Med Genet. 2012 Jun 19;13:46. doi: 10.1186/1471-2350-13-46.

17.

Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study.

Geirdal AØ, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K.

Disabil Rehabil. 2013 Feb;35(3):206-13. doi: 10.3109/09638288.2012.690500.

PMID:
22671535
18.

Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study.

Geirdal AØ, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K.

Am J Med Genet A. 2012 Jun;158A(6):1269-78. doi: 10.1002/ajmg.a.35309.

PMID:
22529055
19.

Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG.

Lu L, Cancel-Tassin G, Valeri A, Cussenot O, Lange EM, Cooney KA, Farnham JM, Camp NJ, Cannon-Albright LA, Tammela TL, Schleutker J, Hoegel J, Herkommer K, Maier C, Vogel W, Wiklund F, Emanuelsson M, Grönberg H, Wiley KE, Isaacs SD, Walsh PC, Helfand BT, Kan D, Catalona WJ, Stanford JL, FitzGerald LM, Johanneson B, Deutsch K, McIntosh L, Ostrander EA, Thibodeau SN, McDonnell SK, Hebbring S, Schaid DJ, Whittemore AS, Oakley-Girvan I, Hsieh CL, Powell I, Bailey-Wilson JE, Cropp CD, Simpson C, Carpten JD, Seminara D, Zheng SL, Xu J, Giles GG, Severi G, Hopper JL, English DR, Foulkes WD, Maehle L, Moller P, Badzioch MD, Edwards S, Guy M, Eeles R, Easton D, Isaacs WB; International Consortium for Prostate Cancer Genetics..

Prostate. 2012 Mar;72(4):410-26. doi: 10.1002/pros.21443.

20.

Obstructive sleep apnea in Treacher Collins syndrome.

Akre H, Øverland B, Åsten P, Skogedal N, Heimdal K.

Eur Arch Otorhinolaryngol. 2012 Jan;269(1):331-7. doi: 10.1007/s00405-011-1649-0.

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