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Items: 1 to 50 of 365

1.

Ellis-van Creveld syndrome in a patient from Tanzania.

Dekker MCJ, Sadiq AM, Jusabani MA, Mdavire VJ, Baas F, Morton DH, Hamel BCJ.

Am J Med Genet A. 2019 Oct;179(10):2034-2038. doi: 10.1002/ajmg.a.61309. Epub 2019 Jul 26.

PMID:
31350806
2.

Familial Mediterranean Fever (FMF): a single centre retrospective study in Amsterdam.

Hageman IMG, Visser H, Veenstra J, Baas F, Siegert CEH.

Neth J Med. 2019 Jun;77(5):177-182.

3.

Non-response to rituximab therapy in rheumatoid arthritis is associated with incomplete disruption of the B cell receptor repertoire.

Pollastro S, Klarenbeek PL, Doorenspleet ME, van Schaik BDC, Esveldt REE, Thurlings RM, Boumans MJH, Gerlag DM, Tak PP, Vos K, Baas F, van Kampen AHC, de Vries N.

Ann Rheum Dis. 2019 Oct;78(10):1339-1345. doi: 10.1136/annrheumdis-2018-214898. Epub 2019 Jun 19.

4.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377.

5.

Diurnal rhythms in the white adipose tissue transcriptome are disturbed in obese individuals with type 2 diabetes compared with lean control individuals.

Stenvers DJ, Jongejan A, Atiqi S, Vreijling JP, Limonard EJ, Endert E, Baas F, Moerland PD, Fliers E, Kalsbeek A, Bisschop PH.

Diabetologia. 2019 Apr;62(4):704-716. doi: 10.1007/s00125-019-4813-5. Epub 2019 Feb 9.

PMID:
30737520
6.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426.

PMID:
30706531
7.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA.

Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15.

PMID:
30449657
8.

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.

Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.

Hum Mol Genet. 2018 Oct 15;27(20):3488-3497. doi: 10.1093/hmg/ddy236.

9.

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.

Weterman MAJ, Kuo M, Kenter SB, Gordillo S, Karjosukarso DW, Takase R, Bronk M, Oprescu S, van Ruissen F, Witteveen RJW, Bienfait HME, Breuning M, Verhamme C, Hou YM, de Visser M, Antonellis A, Baas F.

Hum Mol Genet. 2018 Dec 1;27(23):4036-4050. doi: 10.1093/hmg/ddy290.

PMID:
30124830
10.

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.

van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F.

Eur J Hum Genet. 2018 Dec;26(12):1752-1758. doi: 10.1038/s41431-018-0233-0. Epub 2018 Aug 8.

PMID:
30089828
11.

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

de Majo M, Topp SD, Smith BN, Nishimura AL, Chen HJ, Gkazi AS, Miller J, Wong CH, Vance C, Baas F, Ten Asbroek ALMA, Kenna KP, Ticozzi N, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Morrison KE, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, de Belleroche J, Gellera C, Ratti A, Al-Chalabi A, Brown RH, Silani V, Landers JE, Shaw CE.

Neurobiol Aging. 2018 Nov;71:266.e1-266.e10. doi: 10.1016/j.neurobiolaging.2018.06.015. Epub 2018 Jun 25.

12.

Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism.

Conlon EG, Fagegaltier D, Agius P, Davis-Porada J, Gregory J, Hubbard I, Kang K, Kim D; New York Genome Center ALS Consortium, Phatnani H, Kwan J, Sareen D, Broach JR, Simmons Z, Arcila-Londono X, Lee EB, Van Deerlin VM, Shneider NA, Fraenkel E, Ostrow LW, Baas F, Zaitlen N, Berry JD, Malaspina A, Fratta P, Cox GA, Thompson LM, Finkbeiner S, Dardiotis E, Miller TM, Chandran S, Pal S, Hornstein E, MacGowan DJ, Heiman-Patterson T, Hammell MG, Patsopoulos NA, Dubnau J, Nath A, Phatnani H, Shneider NA, Manley JL.

Elife. 2018 Jul 13;7. pii: e37754. doi: 10.7554/eLife.37754.

13.

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

van Dijk T, Baas F, Barth PG, Poll-The BT.

Orphanet J Rare Dis. 2018 Jun 15;13(1):92. doi: 10.1186/s13023-018-0826-2. Review.

14.

In Rheumatoid Arthritis, Synovitis at Different Inflammatory Sites Is Dominated by Shared but Patient-Specific T Cell Clones.

Musters A, Klarenbeek PL, Doorenspleet ME, Balzaretti G, Esveldt REE, van Schaik BDC, Jongejan A, Tas SW, van Kampen AHC, Baas F, de Vries N.

J Immunol. 2018 Jul 15;201(2):417-422. doi: 10.4049/jimmunol.1800421. Epub 2018 Jun 11.

15.

Variation in coagulation and fibrinolysis genes evaluated for their contribution to cerebrovascular complications in adults with bacterial meningitis in the Netherlands.

Kloek AT, Khan HN, Valls Seron M, Jongejan A, Zwinderman AH, Baas F, van der Ende A, van de Beek D, Ferwerda B, Brouwer MC.

J Infect. 2018 Jul;77(1):54-59. doi: 10.1016/j.jinf.2018.03.007. Epub 2018 May 7.

PMID:
29746949
16.

Systemic inhibition of the membrane attack complex impedes neuroinflammation in chronic relapsing experimental autoimmune encephalomyelitis.

Michailidou I, Jongejan A, Vreijling JP, Georgakopoulou T, de Wissel MB, Wolterman RA, Ruizendaal P, Klar-Mohamad N, Grootemaat AE, Picavet DI, Kumar V, van Kooten C, Woodruff TM, Morgan BP, van der Wel NN, Ramaglia V, Fluiter K, Baas F.

Acta Neuropathol Commun. 2018 May 3;6(1):36. doi: 10.1186/s40478-018-0536-y.

17.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

18.

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.

van Dijk T, Vermeij JD, van Koningsbruggen S, Lakeman P, Baas F, Poll-The BT.

J Inherit Metab Dis. 2018 Sep;41(5):897-898. doi: 10.1007/s10545-018-0151-x. Epub 2018 Feb 20.

19.

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.

van Paassen BW, Bronk M, Verhamme C, van Ruissen F, Baas F, van Spaendonck-Zwarts KY, de Visser M.

J Peripher Nerv Syst. 2017 Dec;22(4):464-467. doi: 10.1111/jns.12236. Epub 2017 Sep 11.

PMID:
28837237
20.

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG.

Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17.

21.

Dominant B cell receptor clones in peripheral blood predict onset of arthritis in individuals at risk for rheumatoid arthritis.

Tak PP, Doorenspleet ME, de Hair MJH, Klarenbeek PL, van Beers-Tas MH, van Kampen AHC, van Schaardenburg D, Gerlag DM, Baas F, de Vries N.

Ann Rheum Dis. 2017 Nov;76(11):1924-1930. doi: 10.1136/annrheumdis-2017-211351. Epub 2017 Aug 8.

22.

Neuroblastoma is composed of two super-enhancer-associated differentiation states.

van Groningen T, Koster J, Valentijn LJ, Zwijnenburg DA, Akogul N, Hasselt NE, Broekmans M, Haneveld F, Nowakowska NE, Bras J, van Noesel CJM, Jongejan A, van Kampen AH, Koster L, Baas F, van Dijk-Kerkhoven L, Huizer-Smit M, Lecca MC, Chan A, Lakeman A, Molenaar P, Volckmann R, Westerhout EM, Hamdi M, van Sluis PG, Ebus ME, Molenaar JJ, Tytgat GA, Westerman BA, van Nes J, Versteeg R.

Nat Genet. 2017 Aug;49(8):1261-1266. doi: 10.1038/ng.3899. Epub 2017 Jun 26.

PMID:
28650485
23.

Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.

van Dijk T, Rudnik-Schöneborn S, Senderek J, Hajmousa G, Mei H, Dusl M, Aronica E, Barth P, Baas F.

Brain. 2017 Aug 1;140(8):e46. doi: 10.1093/brain/awx147. No abstract available.

PMID:
28637197
24.

In Situ complement activation and T-cell immunity in leprosy spectrum: An immunohistological study on leprosy lesional skin.

Bahia El Idrissi N, Iyer AM, Ramaglia V, Rosa PS, Soares CT, Baas F, Das PK.

PLoS One. 2017 May 15;12(5):e0177815. doi: 10.1371/journal.pone.0177815. eCollection 2017.

25.

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek ALMA, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH Jr, Silani V, Landers JE, Shaw CE.

Sci Transl Med. 2017 May 3;9(388). pii: eaad9157. doi: 10.1126/scitranslmed.aad9157.

26.

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.

Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS.

Hum Mol Genet. 2017 Jul 1;26(13):2541-2550. doi: 10.1093/hmg/ddx152.

27.

Erratum to: Mannose-binding lectin-associated serine protease 2 (MASP-2) contributes to poor disease outcome in humans and mice with pneumococcal meningitis.

Kasanmoentalib ES, Seron MV, Ferwerda B, Tanck MW, Zwinderman AH, Baas F, van der Ende A, Schwaeble WJ, Brouwer MC, van de Beek D.

J Neuroinflammation. 2017 Apr 6;14(1):77. doi: 10.1186/s12974-017-0857-y. No abstract available.

28.

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.

Hakonen JE, Sorrentino V, Avagliano Trezza R, de Wissel MB, van den Berg M, Bleijlevens B, van Ruissen F, Distel B, Baas F, Zelcer N, Weterman MAJ.

Hum Mol Genet. 2017 Jun 1;26(11):2034-2041. doi: 10.1093/hmg/ddx089.

PMID:
28335037
29.

Profoundly Expanded T-cell Clones in the Inflamed and Uninflamed Intestine of Patients With Crohn's Disease.

Doorenspleet ME, Westera L, Peters CP, Hakvoort TBM, Esveldt RE, Vogels E, van Kampen AHC, Baas F, Buskens C, Bemelman WA, D'Haens G, Ponsioen CY, Te Velde AA, de Vries N, van den Brink GR.

J Crohns Colitis. 2017 Jul 1;11(7):831-839. doi: 10.1093/ecco-jcc/jjx012.

PMID:
28158397
30.

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG.

Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.

31.

Mannose-binding lectin-associated serine protease 2 (MASP-2) contributes to poor disease outcome in humans and mice with pneumococcal meningitis.

Kasanmoentalib ES, Valls Seron M, Ferwerda B, Tanck MW, Zwinderman AH, Baas F, van der Ende A, Schwaeble WJ, Brouwer MC, van de Beek D.

J Neuroinflammation. 2017 Jan 3;14(1):2. doi: 10.1186/s12974-016-0770-9. Erratum in: J Neuroinflammation. 2017 Apr 6;14 (1):77.

32.

Deregulated expression of EZH2 in congenital brainstem disconnection.

Barth PG, Aronica E, Fox S, Fluiter K, Weterman MAJ, Poretti A, Miller DC, Boltshauser E, Harding B, Santi M, Baas F.

Neuropathol Appl Neurobiol. 2017 Jun;43(4):358-365. doi: 10.1111/nan.12368. No abstract available.

PMID:
27886392
33.

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.

van Dijk T, Barth P, Reneman L, Appelhof B, Baas F, Poll-The BT.

Am J Med Genet A. 2017 Jan;173(1):207-212. doi: 10.1002/ajmg.a.37962. Epub 2016 Nov 9. Review.

PMID:
27862915
34.

Oncogenic Properties of Candidate Oncogenes in Chromosome Region 17p11.2p12 in Human Osteosarcoma.

Both J, Wu T, Ten Asbroek AL, Baas F, Hulsebos TJ.

Cytogenet Genome Res. 2016;150(1):52-59. doi: 10.1159/000451046. Epub 2016 Nov 16.

PMID:
27846620
35.

Polymorphism of SLC6A2 gene does not influence outcome of myocardial 123I-mIBG scintigraphy in patients with chronic heart failure.

Verschure DO, Baas F, van Eck-Smit BLF, Somsen GA, Verberne HJ.

J Nucl Cardiol. 2018 Jun;25(3):900-906. doi: 10.1007/s12350-016-0722-x. Epub 2016 Nov 14.

36.

Complement C3 on microglial clusters in multiple sclerosis occur in chronic but not acute disease: Implication for disease pathogenesis.

Michailidou I, Naessens DM, Hametner S, Guldenaar W, Kooi EJ, Geurts JJ, Baas F, Lassmann H, Ramaglia V.

Glia. 2017 Feb;65(2):264-277. doi: 10.1002/glia.23090. Epub 2016 Oct 25.

37.

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

van Dijk T, van Ruissen F, Jaeger B, Rodenburg RJ, Tamminga S, van Maarle M, Baas F, Wolf NI, Poll-The BT.

JIMD Rep. 2017;33:87-92. doi: 10.1007/8904_2016_584. Epub 2016 Sep 29.

38.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M.

Am J Hum Genet. 2016 Oct 6;99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003. Epub 2016 Sep 22.

39.

Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.

Menke LA, Engelen M, Alders M, Odekerken VJ, Baas F, Cobben JM.

J Child Neurol. 2016 Dec;31(14):1598-1601. Epub 2016 Sep 12.

PMID:
27625011
40.

Neural response to alcohol taste cues in youth: effects of the OPRM1 gene.

Korucuoglu O, Gladwin TE, Baas F, Mocking RJT, Ruhé HG, Groot PFC, Wiers RW.

Addict Biol. 2017 Nov;22(6):1562-1575. doi: 10.1111/adb.12440. Epub 2016 Sep 5.

PMID:
27594419
41.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium, Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE.

Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25.

42.

Effect of Hyperglycemia on Gene Expression during Early Organogenesis in Mice.

Zhao J, Hakvoort TB, Willemsen AM, Jongejan A, Sokolovic M, Bradley EJ, de Boer VC, Baas F, van Kampen AH, Lamers WH.

PLoS One. 2016 Jul 19;11(7):e0158035. doi: 10.1371/journal.pone.0158035. eCollection 2016.

43.

Variation of 46 Innate Immune Genes Evaluated for their Contribution in Pneumococcal Meningitis Susceptibility and Outcome.

Ferwerda B, Valls Serón M, Jongejan A, Zwinderman AH, Geldhoff M, van der Ende A, Baas F, Brouwer MC, van de Beek D.

EBioMedicine. 2016 Aug;10:77-84. doi: 10.1016/j.ebiom.2016.07.011. Epub 2016 Jul 12.

44.

TSEN54-Related Pontocerebellar Hypoplasia.

Namavar Y, Eggens VRC, Barth PG, Baas F.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Sep 8 [updated 2016 Jul 14].

45.

LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.

Mathijssen IB, Florijn RJ, van den Born LI, Zekveld-Vroon RC, Ten Brink JB, Plomp AS, Baas F, Meijers-Heijboer H, Bergen AA, van Schooneveld MJ.

Retina. 2017 Jan;37(1):161-172. doi: 10.1097/IAE.0000000000001127.

PMID:
27380427
46.

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