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Items: 1 to 50 of 128

1.

De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.

Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH.

J Med Genet. 2020 Jan 10. pii: jmedgenet-2019-106193. doi: 10.1136/jmedgenet-2019-106193. [Epub ahead of print]

PMID:
31924697
2.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM.

Hum Mutat. 2019 Dec;40(12):2270-2285. doi: 10.1002/humu.23841. Epub 2019 Aug 21.

PMID:
31206972
3.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM.

Am J Hum Genet. 2019 May 2;104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25.

4.

Dominant ARL3-related retinitis pigmentosa.

Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G.

Ophthalmic Genet. 2019 Apr;40(2):124-128. doi: 10.1080/13816810.2019.1586965. Epub 2019 Apr 1.

PMID:
30932721
5.

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

Marbach F, Rustad CF, Riess A, Đukić D, Hsieh TC, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz PM, Lessel D, Netzer C.

Am J Hum Genet. 2019 Apr 4;104(4):749-757. doi: 10.1016/j.ajhg.2019.02.021. Epub 2019 Mar 21.

6.

A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss.

Drage Berentsen R, Haukanes BI, Júlíusson PB, Rosendahl K, Houge G.

Mol Syndromol. 2019 Jan;9(5):228-234. doi: 10.1159/000492418. Epub 2018 Aug 15.

7.

A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.

Bredrup C, Stokowy T, McGaughran J, Lee S, Sapkota D, Cristea I, Xu L, Tveit KS, Høvding G, Steen VM, Rødahl E, Bruland O, Houge G.

Eur J Hum Genet. 2019 Apr;27(4):574-581. doi: 10.1038/s41431-018-0323-z. Epub 2018 Dec 20.

PMID:
30573803
8.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.

Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N.

Eur J Hum Genet. 2019 Mar;27(3):378-383. doi: 10.1038/s41431-018-0289-x. Epub 2018 Nov 28.

PMID:
30487643
9.

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Xu L, Jensen H, Johnston JJ, Di Maria E, Kloth K, Cristea I, Sapp JC, Darling TN, Huryn LA, Tranebjærg L, Cinotti E, Kubisch C, Rødahl E, Bruland O, Biesecker LG, Houge G, Bredrup C.

Am J Hum Genet. 2018 Dec 6;103(6):976-983. doi: 10.1016/j.ajhg.2018.10.013. Epub 2018 Nov 15.

10.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study, Goldstein DB, Anyane-Yeboa K.

Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Review.

PMID:
30194818
11.

NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.

McTiernan N, Støve SI, Aukrust I, Mårli MT, Myklebust LM, Houge G, Arnesen T.

BMC Med Genet. 2018 Mar 20;19(1):47. doi: 10.1186/s12881-018-0559-z.

12.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Menke LA; DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC.

Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626. Epub 2018 Feb 20.

PMID:
29460469
13.

Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.

Stige KE, Gjerde IO, Houge G, Knappskog PM, Tzoulis C.

Clin Case Rep. 2018 Jan 4;6(2):353-362. doi: 10.1002/ccr3.1358. eCollection 2018 Feb.

14.

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.

Berland S, Toft-Bertelsen TL, Aukrust I, Byska J, Vaudel M, Bindoff LA, MacAulay N, Houge G.

Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1). pii: a002303. doi: 10.1101/mcs.a002303. Print 2018 Feb.

15.

Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.

Haug MG, Brendehaug A, Houge G, Kagami M, Ogata T.

Clin Case Rep. 2017 Nov 28;6(1):91-95. doi: 10.1002/ccr3.1300. eCollection 2018 Jan.

16.

The inner life and structure of ESHG.

Houge G, Del Picchia J.

Eur J Hum Genet. 2017 Dec;25(s2):S16-S19. doi: 10.1038/ejhg.2017.144. No abstract available.

17.

Secretary Generals on recent ESHG presidents (2003-2015).

Kääriäinen H, Houge G.

Eur J Hum Genet. 2017 Dec;25(s2):S20-S22. doi: 10.1038/ejhg.2017.145. No abstract available.

18.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA.

Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27.

19.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

Lamers IJC, Reijnders MRF, Venselaar H, Kraus A; DDD Study, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R.

Am J Hum Genet. 2017 Nov 2;101(5):824-832. doi: 10.1016/j.ajhg.2017.09.015. Epub 2017 Oct 26.

20.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M.

J Med Genet. 2018 Jan;55(1):28-38. doi: 10.1136/jmedgenet-2017-104620. Epub 2017 Oct 11.

21.

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM.

Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4.

22.

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.

Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B.

Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21.

23.

Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease.

Skrunes R, Tøndel C, Leh S, Larsen KK, Houge G, Davidsen ES, Hollak C, van Kuilenburg ABP, Vaz FM, Svarstad E.

Clin J Am Soc Nephrol. 2017 Sep 7;12(9):1470-1479. doi: 10.2215/CJN.01820217. Epub 2017 Jun 16.

24.

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.

Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N.

Nat Genet. 2017 Jul;49(7):1148-1151. doi: 10.1038/ng.3883. Epub 2017 May 29.

25.

Pathomechanisms of renal Fabry disease.

Eikrem Ø, Skrunes R, Tøndel C, Leh S, Houge G, Svarstad E, Marti HP.

Cell Tissue Res. 2017 Jul;369(1):53-62. doi: 10.1007/s00441-017-2609-9. Epub 2017 Apr 12. Review. No abstract available.

PMID:
28401309
26.

The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.

Aukrust I, Jansson RW, Bredrup C, Rusaas HE, Berland S, Jørgensen A, Haug MG, Rødahl E, Houge G, Knappskog PM.

Acta Ophthalmol. 2017 May;95(3):240-246. doi: 10.1111/aos.13273. Epub 2016 Oct 24.

27.

Formation of new chromatin domains determines pathogenicity of genomic duplications.

Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, Kraft K, Kempfer R, Jerković I, Chan WL, Spielmann M, Timmermann B, Wittler L, Kurth I, Cambiaso P, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Mundlos S.

Nature. 2016 Oct 13;538(7624):265-269. doi: 10.1038/nature19800. Epub 2016 Oct 5.

PMID:
27706140
28.

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A.

Clin Genet. 2017 May;91(5):697-707. doi: 10.1111/cge.12861. Epub 2016 Oct 10.

PMID:
27598823
29.

RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.

Stokowy T, Garbulowski M, Fiskerstrand T, Holdhus R, Labun K, Sztromwasser P, Gilissen C, Hoischen A, Houge G, Petersen K, Jonassen I, Steen VM.

Bioinformatics. 2016 Oct 1;32(19):3018-20. doi: 10.1093/bioinformatics/btw359. Epub 2016 Jun 10.

PMID:
27288501
30.

A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.

Lien E, Våtevik AK, Østern R, Haukanes BI, Houge G.

Ann Neurol. 2016 Aug;80(2):311-2. doi: 10.1002/ana.24699. Epub 2016 Jun 28. No abstract available.

PMID:
27273810
31.

A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

Schmidt S, Nag HE, Hunn BS, Houge G, Hoxmark LB.

Eur J Med Genet. 2016 Apr;59(4):240-8. doi: 10.1016/j.ejmg.2016.01.004. Epub 2016 Jan 22.

PMID:
26808425
32.

[Where is the boundary between diagnostics and research?].

Houge G.

Tidsskr Nor Laegeforen. 2015 Oct 6;135(18):1632. doi: 10.4045/tidsskr.15.0817. eCollection 2015 Oct 6. Norwegian. No abstract available.

33.

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Døskeland SO, Hurles ME, FitzPatrick DR, Janssens V.

J Clin Invest. 2015 Aug 3;125(8):3051-62. doi: 10.1172/JCI79860. Epub 2015 Jul 13.

34.

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.

Horn D, Prescott T, Houge G, Brække K, Rosendahl K, Nishimura G, FitzPatrick DR, Spranger J.

Eur J Med Genet. 2015 Aug;58(8):387-91. doi: 10.1016/j.ejmg.2015.06.003. Epub 2015 Jun 23.

PMID:
26116559
35.

[Special outpatient clinic for skeletal dysplasias].

Rosendahl K, Houge G, Gradek GA, Berland S, Fevang JM, Berentsen RD, Júlíusson PB.

Tidsskr Nor Laegeforen. 2015 Mar 10;135(5):419-20. doi: 10.4045/tidsskr.14.1022. eCollection 2015 Mar 10. Norwegian. No abstract available.

36.

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.

van der Tol L, Cassiman D, Houge G, Janssen MC, Lachmann RH, Linthorst GE, Ramaswami U, Sommer C, Tøndel C, West ML, Weidemann F, Wijburg FA, Svarstad E, Hollak CE, Biegstraaten M.

JIMD Rep. 2014;17:83-90. doi: 10.1007/8904_2014_342. Epub 2014 Sep 16.

37.

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.

Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA.

Ann Neurol. 2014 Nov;76(5):758-64. doi: 10.1002/ana.24274. Epub 2014 Oct 4.

PMID:
25223753
38.

Keloids in Rubinstein-Taybi syndrome: a clinical study.

van de Kar AL, Houge G, Shaw AC, de Jong D, van Belzen MJ, Peters DJ, Hennekam RC.

Br J Dermatol. 2014 Sep;171(3):615-21. doi: 10.1111/bjd.13124. Epub 2014 Aug 21. Review.

PMID:
25132000
39.

Ocular pterygium--digital keloid dysplasia.

Abarca H, Mellgren AE, Trubnykova M, Haugen OH, Høvding G, Tveit KS, Houge G, Bredrup C, Hennekam RC.

Am J Med Genet A. 2014 Nov;164A(11):2901-7. doi: 10.1002/ajmg.a.36713. Epub 2014 Aug 14.

PMID:
25124224
40.

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease.

Apelland T, Gude E, Strøm EH, Gullestad L, Eiklid KL, Månsson JE, Reinholt FP, Houge G, Dahl CP, Almaas VM, Heiberg A.

Heart. 2014 Nov;100(22):1793-8. doi: 10.1136/heartjnl-2014-305616. Epub 2014 Jul 16.

PMID:
25031264
41.

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.

Courage C, Houge G, Gallati S, Schjelderup J, Rieubland C.

Eur J Med Genet. 2014 Sep;57(9):520-3. doi: 10.1016/j.ejmg.2014.06.003. Epub 2014 Jun 13.

PMID:
24932903
42.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A; UK10K; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR.

Am J Hum Genet. 2014 Jun 5;94(6):915-23. doi: 10.1016/j.ajhg.2014.05.005.

43.

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G.

Am J Med Genet A. 2014 Jul;164A(7):1622-6. doi: 10.1002/ajmg.a.36498. Epub 2014 Mar 26.

PMID:
24678003
44.

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

Zaveri HP, Beck TF, Hernández-García A, Shelly KE, Montgomery T, van Haeringen A, Anderlid BM, Patel C, Goel H, Houge G, Morrow BE, Cheung SW, Lalani SR, Scott DA.

PLoS One. 2014 Jan 15;9(1):e85600. doi: 10.1371/journal.pone.0085600. eCollection 2014.

45.

Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome.

de Leeuw N, Houge G.

Am J Hum Genet. 2014 Jan 2;94(1):153-4. doi: 10.1016/j.ajhg.2013.11.016. No abstract available.

46.

RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts.

Lybæk H, de Bruijn D, den Engelsman-van Dijk AH, Vanichkina D, Nepal C, Brendehaug A, Houge G.

Epigenetics. 2014 Mar;9(3):416-27. doi: 10.4161/epi.27474. Epub 2013 Dec 18.

47.

De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype.

Houge G, Bruland O, Bjørnevoll I, Hayden MR, Semaka A.

Neurology. 2013 Sep 17;81(12):1099-100. doi: 10.1212/WNL.0b013e3182a4a4af. Epub 2013 Aug 14. No abstract available.

48.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B.

Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.

49.

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

de Voer RM, Geurts van Kessel A, Weren RD, Ligtenberg MJ, Smeets D, Fu L, Vreede L, Kamping EJ, Verwiel ET, Hahn MM, Ariaans M, Spruijt L, van Essen T, Houge G, Schackert HK, Sheng JQ, Venselaar H, van Ravenswaaij-Arts CM, van Krieken JH, Hoogerbrugge N, Kuiper RP.

Gastroenterology. 2013 Sep;145(3):544-7. doi: 10.1053/j.gastro.2013.06.001. Epub 2013 Jun 5.

PMID:
23747338
50.

Evidence for anticipation in Beckwith-Wiedemann syndrome.

Berland S, Appelbäck M, Bruland O, Beygo J, Buiting K, Mackay DJ, Karen Temple I, Houge G.

Eur J Hum Genet. 2013 Dec;21(12):1344-8. doi: 10.1038/ejhg.2013.71. Epub 2013 Apr 10.

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