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Items: 1 to 50 of 312

1.

Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.

Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S.

Nat Rev Genet. 2019 Nov;20(11):702. doi: 10.1038/s41576-019-0178-3.

PMID:
31520075
2.

Leveraging European infrastructures to access 1 million human genomes by 2022.

Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S.

Nat Rev Genet. 2019 Nov;20(11):693-701. doi: 10.1038/s41576-019-0156-9. Epub 2019 Aug 27. Review. Erratum in: Nat Rev Genet. 2019 Sep 13;:.

PMID:
31455890
3.

Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.

Jaeken J, Lefeber DJ, Matthijs G.

Eur J Hum Genet. 2019 Nov;27(11):1757-1760. doi: 10.1038/s41431-019-0453-y. Epub 2019 Jun 23.

PMID:
31231132
4.

Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.

Blommaert E, Péanne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, Race V, Keldermans L, Souche E, Corveleyn A, Sparkes R, Bhattacharya K, Devalck C, Schrijvers R, Foulquier F, Gilmore R, Matthijs G.

Proc Natl Acad Sci U S A. 2019 May 14;116(20):9865-9870. doi: 10.1073/pnas.1817815116. Epub 2019 Apr 29.

PMID:
31036665
5.

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Witters P, Honzik T, Bauchart E, Altassan R, Pascreau T, Bruneel A, Vuillaumier S, Seta N, Borgel D, Matthijs G, Jaeken J, Meersseman W, Cassiman D, Pascale de L, Morava E.

Genet Med. 2019 May;21(5):1181-1188. doi: 10.1038/s41436-018-0301-4. Epub 2018 Oct 8.

PMID:
30293989
6.

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.

Duvet S, Mouajjah D, Péanne R, Matthijs G, Raymond K, Jaeken J, Morava E, Foulquier F.

Electrophoresis. 2018 Dec;39(24):3133-3141. doi: 10.1002/elps.201800020. Epub 2018 Aug 2.

PMID:
29947113
7.

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

Quelhas D, Jaeken J, Fortuna A, Azevedo L, Bandeira A, Matthijs G, Martins E.

JIMD Rep. 2019;43:111-116. doi: 10.1007/8904_2018_112. Epub 2018 Jun 20.

8.

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

Ardui S, Race V, de Ravel T, Van Esch H, Devriendt K, Matthijs G, Vermeesch JR.

Front Genet. 2018 May 16;9:150. doi: 10.3389/fgene.2018.00150. eCollection 2018.

9.

Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.

Jaeken J, Lefeber DJ, Matthijs G.

Eur J Hum Genet. 2018 Aug;26(8):1230-1233. doi: 10.1038/s41431-017-0002-5. Epub 2018 Apr 23. No abstract available.

10.

Patient with confirmed LEOPARD syndrome developing multiple melanoma.

Colmant C, Franck D, Marot L, Matthijs G, Sznajer Y, Blomme S, Tromme I.

Dermatol Pract Concept. 2018 Jan 31;8(1):59-62. doi: 10.5826/dpc.0801a14. eCollection 2018 Jan.

11.

Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.

Soto JL, Blanco I, Díez O, García Planells J, Lorda I, Matthijs G, Robledo M, Souche E, Lázaro C.

Med Clin (Barc). 2018 Jul 23;151(2):80.e1-80.e10. doi: 10.1016/j.medcli.2017.12.010. Epub 2018 Feb 10. English, Spanish.

PMID:
29439875
12.

Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK.

Genet Med. 2018 Sep;20(9):1098. doi: 10.1038/gim.2017.232.

PMID:
29300369
13.

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

Robyns T, Kuiperi C, Breckpot J, Devriendt K, Souche E, Van Cleemput J, Willems R, Nuyens D, Matthijs G, Corveleyn A.

Eur J Hum Genet. 2017 Dec;25(12):1313-1323. doi: 10.1038/s41431-017-0004-3. Epub 2017 Oct 10.

14.

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.

Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M.

J Exp Med. 2017 Dec 4;214(12):3707-3729. doi: 10.1084/jem.20170453. Epub 2017 Nov 10.

15.

Investigating the function of Gdt1p in yeast Golgi glycosylation.

Dulary E, Yu SY, Houdou M, de Bettignies G, Decool V, Potelle S, Duvet S, Krzewinski-Recchi MA, Garat A, Matthijs G, Guerardel Y, Foulquier F.

Biochim Biophys Acta Gen Subj. 2018 Mar;1862(3):394-402. doi: 10.1016/j.bbagen.2017.11.006. Epub 2017 Nov 3.

PMID:
29108953
16.

Congenital disorders of glycosylation (CDG): Quo vadis?

Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J.

Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Review.

17.

PMM2-CDG and sensorineural hearing loss.

Kasapkara ÇS, Barış Z, Kılıç M, Yüksel D, Keldermans L, Matthijs G, Jaeken J.

J Inherit Metab Dis. 2017 Sep;40(5):629-630. doi: 10.1007/s10545-017-0073-z. Epub 2017 Jul 31. No abstract available.

PMID:
28762107
18.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

19.

Critical points for an accurate human genome analysis.

White SJ, Laros JFJ, Bakker E, Cambon-Thomsen A, Eden M, Leonard S, Lochmüller H, Matthijs G, Mattocks C, Patton S, Payne K, Scheffer H, Souche E, Thomassen E, Thompson R, Traeger-Synodinos J, Van Vooren S, Janssen B, den Dunnen JT.

Hum Mutat. 2017 Aug;38(8):912-921. doi: 10.1002/humu.23238. Epub 2017 Jun 16. Review.

PMID:
28471515
20.

Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.

Mikobi TM, Tshilobo Lukusa P, Aloni MN, Lumaka AZ, Kaba DK, Devriendt K, Matthijs G, Mbuyi Muamba JM, Race V.

J Clin Lab Anal. 2018 Jan;32(1). doi: 10.1002/jcla.22207. Epub 2017 Mar 23.

PMID:
28332727
21.

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.

Morelle W, Potelle S, Witters P, Wong S, Climer L, Lupashin V, Matthijs G, Gadomski T, Jaeken J, Cassiman D, Morava E, Foulquier F.

J Clin Endocrinol Metab. 2017 Apr 1;102(4):1375-1386. doi: 10.1210/jc.2016-3443.

22.

Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series.

Mikobi TM, Lukusa PT, Aloni MN, Lumaka A, Akilimali PZ, Devriendt K, Matthijs G, Mbuyi Muamba JM, Race V.

J Clin Lab Anal. 2018 Jan;32(1). doi: 10.1002/jcla.22186. Epub 2017 Mar 9.

PMID:
28276593
23.

Manganese-induced turnover of TMEM165.

Potelle S, Dulary E, Climer L, Duvet S, Morelle W, Vicogne D, Lebredonchel E, Houdou M, Spriet C, Krzewinski-Recchi MA, Peanne R, Klein A, de Bettignies G, Morsomme P, Matthijs G, Marquardt T, Lupashin V, Foulquier F.

Biochem J. 2017 Apr 19;474(9):1481-1493. doi: 10.1042/BCJ20160910.

24.

Galactose Epimerase Deficiency: Expanding the Phenotype.

Dias Costa F, Ferdinandusse S, Pinto C, Dias A, Keldermans L, Quelhas D, Matthijs G, Mooijer PA, Diogo L, Jaeken J, Garcia P.

JIMD Rep. 2017;37:19-25. doi: 10.1007/8904_2017_10. Epub 2017 Mar 1.

25.

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.

Ardui S, Race V, Zablotskaya A, Hestand MS, Van Esch H, Devriendt K, Matthijs G, Vermeesch JR.

Hum Mutat. 2017 Mar;38(3):324-331. doi: 10.1002/humu.23150. Epub 2017 Jan 17.

PMID:
27883256
26.

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, Garcia-Garcia F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F, Girós M.

Hum Mutat. 2017 Feb;38(2):148-151. doi: 10.1002/humu.23145. Epub 2016 Nov 26.

PMID:
27862579
27.

Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

Jaeken J, Lefeber DJ, Matthijs G.

Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.151. Epub 2016 Nov 9. No abstract available.

28.

Guidelines for diagnostic next-generation sequencing.

Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P.

Eur J Hum Genet. 2016 Oct;24(10):1515. doi: 10.1038/ejhg.2016.63. No abstract available.

29.

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA.

J Inherit Metab Dis. 2016 Sep;39(5):759. doi: 10.1007/s10545-016-9967-4. No abstract available.

PMID:
27498540
30.

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL.

Genet Med. 2017 Jan;19(1):104-111. doi: 10.1038/gim.2016.74. Epub 2016 Jun 30. Erratum in: Genet Med. 2018 Jan 04;:.

PMID:
27362913
31.

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA.

J Inherit Metab Dis. 2016 Sep;39(5):713-723. doi: 10.1007/s10545-016-9945-x. Epub 2016 Jun 10. Erratum in: J Inherit Metab Dis. 2016 Sep;39(5):759.

PMID:
27287710
32.

Clinical utility gene card for: Peters plus syndrome.

Jaeken J, Lefeber DJ, Matthijs G.

Eur J Hum Genet. 2016 Aug;24(8). doi: 10.1038/ejhg.2016.32. Epub 2016 Apr 6. No abstract available.

33.

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.

Potelle S, Morelle W, Dulary E, Duvet S, Vicogne D, Spriet C, Krzewinski-Recchi MA, Morsomme P, Jaeken J, Matthijs G, De Bettignies G, Foulquier F.

Hum Mol Genet. 2016 Apr 15;25(8):1489-500. doi: 10.1093/hmg/ddw026. Epub 2016 Feb 1.

PMID:
27008884
34.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH.

Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21.

35.

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28.

36.

Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.

Jaeken J, Lefeber DJ, Matthijs G.

Eur J Hum Genet. 2016 Jul;24(7). doi: 10.1038/ejhg.2015.248. Epub 2015 Nov 18. Review. No abstract available.

37.

New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing.

Matthijs G, Dierking A, Schmidtke J.

Eur J Hum Genet. 2016 Jan;24(1):1. doi: 10.1038/ejhg.2015.229. Epub 2015 Oct 28. No abstract available.

38.

Guidelines for diagnostic next-generation sequencing.

Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P; EuroGentest; European Society of Human Genetics.

Eur J Hum Genet. 2016 Jan;24(1):2-5. doi: 10.1038/ejhg.2015.226. Epub 2015 Oct 28. Erratum in: Eur J Hum Genet. 2016 Oct;24(10):1515.

39.

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.

Bengtson P, Ng BG, Jaeken J, Matthijs G, Freeze HH, Eklund EA.

J Inherit Metab Dis. 2016 Jan;39(1):107-14. doi: 10.1007/s10545-015-9884-y. Epub 2015 Sep 3.

40.

Key features and clinical variability of COG6-CDG.

Rymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokçay G, Haijes H, Goyens P, Tokatli A, Thiel C, Bartsch O, Hecht J, Krawitz P, Prinsen HC, Mildenberger E, Matthijs G, Kornak U.

Mol Genet Metab. 2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003. Epub 2015 Jul 29.

PMID:
26260076
41.

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

Jaeken J, Lefeber D, Matthijs G.

Eur J Hum Genet. 2015 Dec;23(12). doi: 10.1038/ejhg.2015.177. Epub 2015 Aug 5. No abstract available.

42.

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL.

Ann Neurol. 2015 Oct;78(4):606-18. doi: 10.1002/ana.24485. Epub 2015 Aug 10. Erratum in: Ann Neurol. 2016 Mar;79(3):505.

43.

ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.

Lepais L, Cheillan D, Frachon SC, Hays S, Matthijs G, Panagiotakaki E, Abel C, Edery P, Rossi M.

Am J Med Genet A. 2015 Nov;167A(11):2748-54. doi: 10.1002/ajmg.a.37232. Epub 2015 Jun 30.

PMID:
26126960
44.

Microsatellite instable vs stable colon carcinomas: analysis of tumour heterogeneity, inflammation and angiogenesis.

De Smedt L, Lemahieu J, Palmans S, Govaere O, Tousseyn T, Van Cutsem E, Prenen H, Tejpar S, Spaepen M, Matthijs G, Decaestecker C, Moles Lopez X, Demetter P, Salmon I, Sagaert X.

Br J Cancer. 2015 Jul 28;113(3):500-9. doi: 10.1038/bjc.2015.213. Epub 2015 Jun 11.

45.

A case with rare type of congenital disorder of glycosylation: PGM1-CDG.

Küçükçongar A, Tümer L, Ezgü FS, Kasapkara ÇS, Jaeken J, Matthijs G, Rymen D, Dalgiç B, Bıdecı A, Hasanoğlu A.

Genet Couns. 2015;26(1):87-90. No abstract available.

PMID:
26043514
46.

Global implementation of genomic medicine: We are not alone.

Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC, Bleyl S, Chakravarti A, Chantratita W, Chisholm RL, Dissanayake VH, Dunn M, Dzau VJ, Han BG, Hubbard T, Kolbe A, Korf B, Kubo M, Lasko P, Leego E, Mahasirimongkol S, Majumdar PP, Matthijs G, McLeod HL, Metspalu A, Meulien P, Miyano S, Naparstek Y, O'Rourke PP, Patrinos GP, Rehm HL, Relling MV, Rennert G, Rodriguez LL, Roden DM, Shuldiner AR, Sinha S, Tan P, Ulfendahl M, Ward R, Williams MS, Wong JE, Green ED, Ginsburg GS.

Sci Transl Med. 2015 Jun 3;7(290):290ps13. doi: 10.1126/scitranslmed.aab0194. Review.

47.

Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients.

Mikobi TM, Lukusa Tshilobo P, Aloni MN, Mvumbi Lelo G, Akilimali PZ, Muyembe-Tamfum JJ, Race V, Matthijs G, Mbuyi Mwamba JM.

PLoS One. 2015 May 6;10(5):e0123568. doi: 10.1371/journal.pone.0123568. eCollection 2015.

48.

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

Jaeken J, Lefeber D, Matthijs G.

Eur J Hum Genet. 2015 Oct;23(10). doi: 10.1038/ejhg.2015.9. Epub 2015 Feb 4. No abstract available.

49.

Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.

Bammens R, Mehta N, Race V, Foulquier F, Jaeken J, Tiemeyer M, Steet R, Matthijs G, Flanagan-Steet H.

Glycobiology. 2015 Jun;25(6):669-82. doi: 10.1093/glycob/cwv009. Epub 2015 Jan 21.

50.

ALG11-CDG: Three novel mutations and further characterization of the phenotype.

Regal L, van Hasselt PM, Foulquier F, Cuppen I, Prinsen H, Jansen K, Keldermans L, De Meirleir L, Matthijs G, Jaeken J.

Mol Genet Metab Rep. 2014 Nov 25;2:16-19. doi: 10.1016/j.ymgmr.2014.11.006. eCollection 2015 Mar.

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