| Year |
Citation |
Score |
| 2014 |
de Vries B, Eising E, Broos LA, Koelewijn SC, Todorov B, Frants RR, Boer JM, Ferrari MD, Hoen PA, van den Maagdenberg AM. RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice. Cephalalgia : An International Journal of Headache. 34: 174-82. PMID 23985897 DOI: 10.1177/0333102413502736 |
0.339 |
|
| 2013 |
Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, ... ... Frants RR, et al. Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nature Genetics. 45: 912-7. PMID 23793025 DOI: 10.1038/Ng.2676 |
0.375 |
|
| 2013 |
Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS, Rijkers T, van Engelen BG, Padberg GW, Frants RR, Tawil R, et al. Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. Plos Genetics. 9: e1003415. PMID 23593020 DOI: 10.1371/journal.pgen.1003415 |
0.558 |
|
| 2012 |
Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, ... ... Frants RR, et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nature Genetics. 44: 1370-4. PMID 23143600 DOI: 10.1038/ng.2454 |
0.628 |
|
| 2012 |
Freilinger T, Anttila V, de Vries B, Malik R, Kallela M, Terwindt GM, Pozo-Rosich P, Winsvold B, Nyholt DR, van Oosterhout WP, Artto V, Todt U, Hämäläinen E, Fernández-Morales J, Louter MA, ... ... Frants RR, et al. Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nature Genetics. 44: 777-82. PMID 22683712 DOI: 10.1038/Ng.2307 |
0.314 |
|
| 2012 |
Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, ... ... Frants R, et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. Plos Genetics. 8: e1002607. PMID 22479202 DOI: 10.1371/Journal.Pgen.1002607 |
0.55 |
|
| 2012 |
Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, An SS, Hester JM, Cooke JN, Bostrom MA, Rudock ME, Talbert ME, Lewis JP, Ferrara A, ... ... Frants R, et al. A genome-wide association search for type 2 diabetes genes in African Americans. Plos One. 7: e29202. PMID 22238593 DOI: 10.1371/Journal.Pone.0029202 |
0.558 |
|
| 2012 |
de Morrée A, Droog M, Grand Moursel L, Bisschop IJ, Impagliazzo A, Frants RR, Klooster R, van der Maarel SM. Self-regulated alternative splicing at the AHNAK locus. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 26: 93-103. PMID 21940993 DOI: 10.1096/Fj.11-187971 |
0.308 |
|
| 2011 |
de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, et al. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. American Journal of Human Genetics. 88: 796-804. PMID 21596365 DOI: 10.1016/J.Ajhg.2011.04.018 |
0.455 |
|
| 2011 |
Stam AH, Louter MA, Haan J, de Vries B, van den Maagdenberg AM, Frants RR, Ferrari MD, Terwindt GM. A long-term follow-up study of 18 patients with sporadic hemiplegic migraine. Cephalalgia : An International Journal of Headache. 31: 199-205. PMID 20974584 DOI: 10.1177/0333102410375629 |
0.355 |
|
| 2010 |
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science (New York, N.Y.). 329: 1650-3. PMID 20724583 DOI: 10.1126/Science.1189044 |
0.672 |
|
| 2010 |
Kaja S, Van de Ven RC, Broos LA, Frants RR, Ferrari MD, Van den Maagdenberg AM, Plomp JJ. Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice. Journal of Neurophysiology. 104: 1445-55. PMID 20631222 DOI: 10.1152/Jn.00012.2010 |
0.343 |
|
| 2010 |
van den Maagdenberg AM, Pizzorusso T, Kaja S, Terpolilli N, Shapovalova M, Hoebeek FE, Barrett CF, Gherardini L, van de Ven RC, Todorov B, Broos LA, Tottene A, Gao Z, Fodor M, De Zeeuw CI, ... Frants RR, et al. High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice. Annals of Neurology. 67: 85-98. PMID 20186955 DOI: 10.1002/Ana.21815 |
0.315 |
|
| 2010 |
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, ... ... Frants R, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nature Genetics. 42: 105-16. PMID 20081858 DOI: 10.1038/Ng.520 |
0.436 |
|
| 2010 |
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, ... ... Frants R, et al. Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Nature Genetics. 42: 464-464. DOI: 10.1038/Ng0510-464A |
0.419 |
|
| 2009 |
de Vries B, Stam AH, Kirkpatrick M, Vanmolkot KR, Koenderink JB, van den Heuvel JJ, Stunnenberg B, Goudie D, Shetty J, Jain V, van Vark J, Terwindt GM, Frants RR, Haan J, van den Maagdenberg AM, et al. Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation. Epilepsia. 50: 2503-4. PMID 19874388 DOI: 10.1111/J.1528-1167.2009.02186.X |
0.334 |
|
| 2009 |
de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Human Mutation. 30: 1449-59. PMID 19728363 DOI: 10.1002/humu.21091 |
0.351 |
|
| 2009 |
Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR, Lock LF, et al. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). Plos Genetics. 5: e1000559. PMID 19593370 DOI: 10.1371/Journal.Pgen.1000559 |
0.344 |
|
| 2009 |
Stam AH, Luijckx GJ, Poll-The BT, Ginjaar IB, Frants RR, Haan J, Ferrari MD, Terwindt GM, Maagdenberg AMJMvd. Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation Journal of Neurology, Neurosurgery, and Psychiatry. 80: 1125-1129. PMID 19520699 DOI: 10.1136/Jnnp.2009.177279 |
0.306 |
|
| 2009 |
de Vries B, Frants RR, Ferrari MD, van den Maagdenberg AMJM. Molecular genetics of migraine Human Genetics. 126: 115-132. PMID 19455354 DOI: 10.1007/S00439-009-0684-Z |
0.407 |
|
| 2009 |
Castro M, Stam A, Lemos C, Vries Bd, Vanmolkot K, Barros J, Terwindt G, Frants R, Sequeiros J, Ferrari, Pereira-Monteiro J, Maagdenberg Avd. First Mutation in the Voltage-Gated Nav1.1 Subunit Gene SCN1A with Co-Occurring Familial Hemiplegic Migraine and Epilepsy Cephalalgia. 29: 308-313. PMID 19220312 DOI: 10.1111/J.1468-2982.2008.01721.X |
0.35 |
|
| 2009 |
de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM. Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Archives of Neurology. 66: 97-101. PMID 19139306 DOI: 10.1001/Archneurol.2008.535 |
0.354 |
|
| 2008 |
Nyholt DR, LaForge KS, Kallela M, Alakurtti K, Anttila V, Färkkilä M, Hämaläinen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Göbel H, Todt U, Ferrari MD, Launer LJ, ... Frants RR, et al. A high-density association screen of 155 ion transport genes for involvement with common migraine. Human Molecular Genetics. 17: 3318-31. PMID 18676988 DOI: 10.1093/Hmg/Ddn227 |
0.377 |
|
| 2008 |
Graves TD, Imbrici P, Kors EE, Terwindt GM, Eunson LH, Frants RR, Haan J, Ferrari MD, Goadsby PJ, Hanna MG, van den Maagdenberg AM, Kullmann DM. Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. Neurobiology of Disease. 32: 10-5. PMID 18606230 DOI: 10.1016/J.Nbd.2008.06.002 |
0.312 |
|
| 2008 |
Stam AH, Vanmolkot KRJ, Kremer HPH, Gärtner J, Brown J, Leshinsky-Silver E, Gilad R, Kors EE, Frankhuizen WS, Ginjaar HB, Haan J, Frants RR, Ferrari MD, Maagdenberg AMJMvd, Terwindt GM. CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine Clinical Genetics. 74: 481-485. PMID 18400034 DOI: 10.1111/J.1399-0004.2008.00996.X |
0.377 |
|
| 2008 |
de Snoo FA, Hottenga JJ, Gillanders EM, Sandkuijl LA, Jones MP, Bergman W, van der Drift C, van Leeuwen I, van Mourik L, Huurne JA, Frants RR, Willemze R, Breuning MH, Trent JM, Gruis NA. Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families. European Journal of Human Genetics : Ejhg. 16: 1135-41. PMID 18398432 DOI: 10.1038/ejhg.2008.72 |
0.328 |
|
| 2008 |
Fregonese L, Stolk J, Frants RR, Veldhuisen B. Alpha-1 antitrypsin Null mutations and severity of emphysema. Respiratory Medicine. 102: 876-84. PMID 18353624 DOI: 10.1016/J.Rmed.2008.01.009 |
0.349 |
|
| 2008 |
de Snoo FA, Hottenga J, Gillanders EM, Sandkuijl LA, Jones MP, Bergman W, van der Drift C, van Leeuwen I, van Mourik L, Huurne JACt, Frants RR, Willemze R, Breuning MH, Trent JM, Gruis NA. Erratum: Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families European Journal of Human Genetics. 16: 1025-1025. DOI: 10.1038/Ejhg.2008.94 |
0.324 |
|
| 2007 |
Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. American Journal of Human Genetics. 81: 884-94. PMID 17924332 DOI: 10.1086/521986 |
0.632 |
|
| 2007 |
van de Ven RC, Kaja S, Plomp JJ, Frants RR, van den Maagdenberg AM, Ferrari MD. Genetic models of migraine. Archives of Neurology. 64: 643-6. PMID 17502463 DOI: 10.1001/Archneur.64.5.643 |
0.334 |
|
| 2007 |
Vanmolkot KR, Stam AH, Raman A, Koenderink JB, de Vries B, van den Boogerd EH, van Vark J, van den Heuvel JJ, Bajaj N, Terwindt GM, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM. First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. European Journal of Human Genetics : Ejhg. 15: 884-8. PMID 17473835 DOI: 10.1038/Sj.Ejhg.5201841 |
0.373 |
|
| 2007 |
Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M. The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online. Human Mutation. 28: 522. PMID 17397047 DOI: 10.1002/Humu.9486 |
0.368 |
|
| 2007 |
de Snoo FA, Kroon MW, Bergman W, ter Huurne JAC, Houwing-Duistermaat JJ, van Mourik L, Snels DGCTM, Breuning MH, Willemze R, Frants RR, Gruis NA. From sporadic atypical nevi to familial melanoma: Risk analysis for melanoma in sporadic atypical nevus patients Journal of the American Academy of Dermatology. 56: 748-752. PMID 17276542 DOI: 10.1016/J.Jaad.2007.01.010 |
0.361 |
|
| 2007 |
Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 68: 578-82. PMID 17229919 DOI: 10.1212/01.Wnl.0000254991.21818.F3 |
0.431 |
|
| 2007 |
van der Maarel SM, Frants RR, Padberg GW. Facioscapulohumeral muscular dystrophy. Biochimica Et Biophysica Acta. 1772: 186-94. PMID 16837171 DOI: 10.1016/j.bbadis.2006.05.009 |
0.578 |
|
| 2006 |
Lopes LR, Peres MF, Vanmolkot KR, Tobo PR, Zukerman E, Frants RR, van den Maagdenberg AM, Moreira-Filho CA. Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families. Arquivos De Neuro-Psiquiatria. 64: 549-52. PMID 17119788 |
0.304 |
|
| 2006 |
De Vries B, Haan J, Frants RR, Van Den Maagdenberg AMJM, Ferrari MD. Genetic biomarkers for migraine Headache. 46: 1059-1068. PMID 16866710 DOI: 10.1111/J.1526-4610.2006.00499.X |
0.351 |
|
| 2006 |
Vanmolkot KR, Kors EE, Turk U, Turkdogan D, Keyser A, Broos LA, Kia SK, van den Heuvel JJ, Black DF, Haan J, Frants RR, Barone V, Ferrari MD, Casari G, Koenderink JB, et al. Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine. European Journal of Human Genetics : Ejhg. 14: 555-60. PMID 16538223 DOI: 10.1038/Sj.Ejhg.5201607 |
0.429 |
|
| 2006 |
Vanmolkot KRJ, Stroink H, Koenderink JB, Kors EE, Heuvel JJMWvd, Boogerd EHvd, Stam AH, Haan J, Vries BBAD, Terwindt GM, Frants RR, Ferrari MD, Maagdenberg AMJMvd. Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Annals of Neurology. 59: 310-314. PMID 16437583 DOI: 10.1002/Ana.20760 |
0.372 |
|
| 2006 |
Tonini MMO, Lemmers RJLF, Arashiro P, Teijlingen Cv, Lazar M, Frants RR, Maarel SMvd, Zatz M. G.P.9 07 D4Z4 repeat exchanges between chromosomes 4 and 10 in different Brazilian ethnic groups: implications for FSHD prevalence? Neuromuscular Disorders. 16: 712-713. DOI: 10.1016/J.Nmd.2006.05.221 |
0.325 |
|
| 2005 |
Monraats PS, Pires NM, Schepers A, Agema WR, Boesten LS, de Vries MR, Zwinderman AH, de Maat MP, Doevendans PA, de Winter RJ, Tio RA, Waltenberger J, 't Hart LM, Frants RR, Quax PH, et al. Tumor necrosis factor-alpha plays an important role in restenosis development. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 19: 1998-2004. PMID 16319143 DOI: 10.1096/Fj.05-4634Com |
0.302 |
|
| 2005 |
van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM. Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Annals of Neurology. 58: 569-76. PMID 16178028 DOI: 10.1002/Ana.20625 |
0.598 |
|
| 2005 |
Buzhov BT, Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Petkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM. Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy. Neuromuscular Disorders : Nmd. 15: 471-5. PMID 15935668 DOI: 10.1016/J.Nmd.2005.03.005 |
0.661 |
|
| 2005 |
Haan J, Kors EE, Vanmolkot KR, van den Maagdenberg AM, Frants RR, Ferrari MD. Migraine genetics: an update. Current Pain and Headache Reports. 9: 213-20. PMID 15907261 DOI: 10.1007/S11916-005-0065-9 |
0.44 |
|
| 2005 |
Callenbach PM, van den Boogerd EH, de Coo RF, ten Houten R, Oosterwijk JC, Hageman G, Frants RR, Brouwer OF, van den Maagdenberg AM. Refinement of the chromosome 16 locus for benign familial infantile convulsions. Clinical Genetics. 67: 517-25. PMID 15857419 DOI: 10.1111/j.1399-0004.2005.00445.x |
0.366 |
|
| 2005 |
Callenbach PM, van den Maagdenberg AM, Frants RR, Brouwer OF. Clinical and genetic aspects of idiopathic epilepsies in childhood. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 9: 91-103. PMID 15843076 DOI: 10.1016/J.Ejpn.2004.12.005 |
0.356 |
|
| 2005 |
van der Maarel SM, Frants RR. The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. American Journal of Human Genetics. 76: 375-86. PMID 15674778 DOI: 10.1086/428361 |
0.362 |
|
| 2005 |
Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM. Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments. Human Genetics. 116: 262-6. PMID 15645183 DOI: 10.1007/S00439-004-1237-0 |
0.462 |
|
| 2004 |
Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. Journal of Medical Genetics. 41: 826-36. PMID 15520407 DOI: 10.1136/Jmg.2004.019364 |
0.623 |
|
| 2004 |
Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. American Journal of Human Genetics. 75: 1124-30. PMID 15467981 DOI: 10.1086/426035 |
0.645 |
|
| 2004 |
Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM. Somatic mosaicism in FSHD often goes undetected. Annals of Neurology. 55: 845-50. PMID 15174019 DOI: 10.1002/ana.20106 |
0.592 |
|
| 2004 |
Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM. Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. American Journal of Human Genetics. 75: 44-53. PMID 15154112 DOI: 10.1086/422175 |
0.66 |
|
| 2004 |
Kaunisto MA, Harno H, Vanmolkot KRJ, Gargus JJ, Sun G, Hämäläinen E, Liukkonen E, Kallela M, Maagdenberg AMJMvd, Frants RR, Färkkilä M, Palotie A, Wessman M. A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2 Neurogenetics. 5: 141-146. PMID 15133718 DOI: 10.1007/S10048-004-0178-Z |
0.453 |
|
| 2004 |
Haan J, Kors EE, van den Maagdenberg AM, Vanmolkot KR, Terwindt GM, Frants RR, Ferrari MD. Toward a molecular genetic classification of familial hemiplegic migraine. Current Pain and Headache Reports. 8: 238-43. PMID 15115644 DOI: 10.1007/S11916-004-0058-0 |
0.477 |
|
| 2004 |
van den Maagdenberg AM, Pietrobon D, Pizzorusso T, Kaja S, Broos LA, Cesetti T, van de Ven RC, Tottene A, van der Kaa J, Plomp JJ, Frants RR, Ferrari MD. A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron. 41: 701-10. PMID 15003170 DOI: 10.1016/S0896-6273(04)00085-6 |
0.306 |
|
| 2003 |
van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nature Genetics. 35: 315-7. PMID 14634647 DOI: 10.1038/Ng1262 |
0.592 |
|
| 2003 |
Beekman M, Heijmans BT, Martin NG, Whitfield JB, Pedersen NL, DeFaire U, Snieder H, Lakenberg N, de Knijff P, Frants RR, van Ommen GJ, Kluft C, Vogler GP, Slagboom PE, Boomsma DI. Two-locus linkage analysis applied to putative quantitative trait loci for lipoprotein(a) levels. Twin Research : the Official Journal of the International Society For Twin Studies. 6: 322-4. PMID 14511440 DOI: 10.1375/136905203322296692 |
0.372 |
|
| 2003 |
Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Annals of Neurology. 54: 360-6. PMID 12953268 DOI: 10.1002/Ana.10674 |
0.429 |
|
| 2003 |
Terwindt G, Kors E, Haan J, Vermeulen F, A VdM, Frants R, Ferrari M. Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. Headache. 43: 303-303. DOI: 10.1046/J.1526-4610.2003.03062_9.X |
0.379 |
|
| 2002 |
van den Maagdenberg AM, Kors EE, Brunt ER, van Paesschen W, Pascual J, Ravine D, Keeling S, Vanmolkot KR, Vermeulen FL, Terwindt GM, Haan J, Frants RR, Ferrari MD. Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. Journal of Neurology. 249: 1515-9. PMID 12420090 DOI: 10.1007/S00415-002-0860-8 |
0.387 |
|
| 2002 |
Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nature Genetics. 32: 235-6. PMID 12355084 DOI: 10.1038/ng999 |
0.589 |
|
| 2002 |
Terwindt G, Kors E, Haan J, Vermeulen F, Van den Maagdenberg A, Frants R, Ferrari M. Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. Archives of Neurology. 59: 1016-8. PMID 12056940 DOI: 10.1001/Archneur.59.6.1016 |
0.444 |
|
| 2002 |
Kors EE, Van den Maagdenberg AMJM, Plomp JJ, Frants RR, Ferrari MD. Calcium channel mutations and migraine Current Opinion in Neurology. 15: 311-316. PMID 12045730 DOI: 10.1097/00019052-200206000-00014 |
0.353 |
|
| 2002 |
van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, de Jong PJ, Hewitt JE. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics. 79: 210-7. PMID 11829491 DOI: 10.1006/geno.2002.6690 |
0.343 |
|
| 2002 |
de Kievit P, van Geel M, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Annals of Neurology. 50: 816-9. PMID 11761483 DOI: 10.1002/ana.10057 |
0.333 |
|
| 2001 |
Tim RW, Gilbert JR, Stajich JM, Rampersaud E, Viles KD, Tawil R, Padberg GW, Frants R, van der Maarel S, Bossen EH, Friedman AH, Pericak-Vance MA, Speer MC. Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy. Journal of Clinical Neuromuscular Disease. 3: 1-7. PMID 19078645 DOI: 10.1097/00131402-200109000-00001 |
0.426 |
|
| 2001 |
Kreeft AJ, Moen CJA, Hofker MH, Frants RR, Vreugdenhil E, Gijbels MJJ, Havekes LM, Datson NA. Identification of Differentially Regulated Genes in Mildly Hyperlipidemic ApoE3-Leiden Mice by Use of Serial Analysis of Gene Expression Arteriosclerosis, Thrombosis, and Vascular Biology. 21: 1984-1990. PMID 11742874 DOI: 10.1161/Hq1201.100265 |
0.318 |
|
| 2001 |
Ophoff RA, DeYoung J, Joosse M, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J, Maagdenberg AMJMvd, Jen J, Baloh RW, Barilla-LaBarca M, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, ... Frants RR, et al. Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3 American Journal of Human Genetics. 69: 447-453. PMID 11438888 DOI: 10.1086/321975 |
0.44 |
|
| 2001 |
Kors EE, Terwindt GM, Vermeulen FL, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AM, Haan J, Frants RR, Ferrari MD. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Annals of Neurology. 49: 753-60. PMID 11409427 DOI: 10.1002/Ana.1031 |
0.386 |
|
| 2001 |
Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. American Journal of Human Genetics. 68: 831-8. PMID 11254442 DOI: 10.1086/319519 |
0.345 |
|
| 2001 |
Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, Fellin T, Spadaro M, Stauderman KA, Williams ME, Volsen S, Ophoff RA, Frants RR, Jodice C, Frontali M, et al. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. American Journal of Human Genetics. 68: 759-764. PMID 11179022 DOI: 10.1086/318804 |
0.372 |
|
| 2001 |
van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM. Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. Human Molecular Genetics. 9: 2879-84. PMID 11092764 DOI: 10.1093/Hmg/9.19.2879 |
0.643 |
|
| 2000 |
Vasen HFA, Gruis NA, Frants RR, Velden PAvd, Hille ETM, Bergman W. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). International Journal of Cancer. 87: 809-811. PMID 10956390 DOI: 10.1002/1097-0215(20000915)87:6<809::Aid-Ijc8>3.0.Co;2-U |
0.342 |
|
| 2000 |
Hoffer MJV, Snieder H, Bredie SJH, Demacker PNM, Kastelein JJP, Frants RR, Stalenhoef AFH. The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia. Atherosclerosis. 151: 443-450. PMID 10924721 DOI: 10.1016/S0021-9150(99)00428-1 |
0.4 |
|
| 1999 |
Grewal PK, Jones A, Maconochie M, Lemmers RJF, Frants RR, Hewitt JE. Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing. Gene. 240: 389-398. PMID 10580159 DOI: 10.1016/S0378-1119(99)00459-X |
0.388 |
|
| 1999 |
Vergouwe MN, Tijssen MA, Peters AC, Wielaard R, Frants RR. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. Annals of Neurology. 46: 634-8. PMID 10514101 DOI: 10.1002/1531-8249(199910)46:4<634::AID-ANA12>3.0.CO;2-9 |
0.317 |
|
| 1999 |
Gabriëls J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, Padberg GW, Frants RR, Hewitt JE, Collen D, Belayew A. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene. 236: 25-32. PMID 10433963 DOI: 10.1016/S0378-1119(99)00267-X |
0.626 |
|
| 1999 |
Grewal PK, Geel Mv, Frants RR, Jong Pd, Hewitt JE. Recent amplification of the human FRG1 gene during primate evolution Gene. 227: 79-88. PMID 9931447 DOI: 10.1016/S0378-1119(98)00587-3 |
0.454 |
|
| 1999 |
Maarel SMvd, Deidda G, Lemmers RJLF, Bakker E, Wielen MJRvd, Sandkuijl LA, Hewitt JE, Padberg GWAM, Frants RR. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD) Journal of Medical Genetics. 36: 823-828. DOI: 10.1136/Jmg.36.11.823 |
0.302 |
|
| 1999 |
Velden PAvd, Sandkuijl LA, Bergman W, Hille ETM, Frants RR, Gruis NA. A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families. Genome Research. 9: 575-580. DOI: 10.1101/Gr.9.6.575 |
0.361 |
|
| 1999 |
Stout K, van der Maarel S, Frants RR, Padberg GW, Ropers H, Haaf T. Chromosome Research. 7: 323-329. DOI: 10.1023/A:1009287111661 |
0.6 |
|
| 1998 |
Terwindt G, Ophoff R, Haan J, Sandkuijl L, Frants R. Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Dutch Migraine Genetics Research Group. European Journal of Human Genetics. 6: 297-307. PMID 9781035 DOI: 10.1038/Sj.Ejhg.5200206 |
0.399 |
|
| 1998 |
Grewal PK, Todd LC, Maarel Svd, Frants RR, Hewitt JE. FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates Gene. 216: 13-19. PMID 9714712 DOI: 10.1016/S0378-1119(98)00334-5 |
0.437 |
|
| 1998 |
Terwindt GM, Ophoff RA, Lindhout D, Haan J, Halley DJ, Sandkuijl LA, Brouwer OF, Frants RR, Ferrari MD. Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome. Epilepsia. 38: 915-21. PMID 9579893 DOI: 10.1111/j.1528-1157.1997.tb01257.x |
0.334 |
|
| 1998 |
Terwindt GM, Haan J, Ophoff RA, Groenen SMA, Storimans CWJM, Lanser JBK, Roos RAC, Bleeker-Wagemakers EM, Frants RR, Ferrari MD. Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. Brain. 121: 303-316. PMID 9549508 DOI: 10.1093/Brain/121.2.303 |
0.372 |
|
| 1998 |
Sijbrands EJG, Lombardi MP, Westendorp RGJ, Leuven JAG, Meinders AE, Laarse AVd, Frants RR, Havekes LM, Smelt AHM. Similar response to simvastatin in patients heterozygous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations Atherosclerosis. 136: 247-254. PMID 9543095 DOI: 10.1016/S0021-9150(97)00216-5 |
0.305 |
|
| 1998 |
Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Human Molecular Genetics. 6: 1973-8. PMID 9302278 DOI: 10.1093/HMG/6.11.1973 |
0.353 |
|
| 1997 |
Vergouwe MN, Tijssen MAJ, Shiang R, Dijk JGv, Shahwan SA, Ophoff RA, Frants RR. Hyperekplexia-like syndromes without mutations in the GLRA1 gene Clinical Neurology and Neurosurgery. 99: 172-178. PMID 9350397 DOI: 10.1016/S0303-8467(97)00022-X |
0.429 |
|
| 1997 |
Ophoff RA, Terwindt GM, Vergouwe MN, Frants RR, Ferrari MD. Involvement of a Ca 2+ channel gene in familial hemiplegic migraine and migraine with and without aura Headache. 37: 479-485. PMID 9329229 DOI: 10.1046/J.1526-4610.1997.3708479.X |
0.456 |
|
| 1997 |
Terwindt GM, Haan J, Ophoff RA, Frants RR, Ferrari MD. The quest for migraine genes Current Opinion in Neurology. 10: 221-225. PMID 9229129 DOI: 10.1097/00019052-199706000-00009 |
0.422 |
|
| 1997 |
Grewal PK, Deutekom JCTv, Mills KA, Lemmers RJLF, Mathews KD, Frants RR, Hewitt JE. The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8. Mammalian Genome. 8: 394-398. PMID 9166581 DOI: 10.1007/S003359900454 |
0.482 |
|
| 1997 |
van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, Padberg GW, Frants RR. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Human Molecular Genetics. 5: 1997-2003. PMID 8968754 DOI: 10.1093/Hmg/5.12.1997 |
0.667 |
|
| 1997 |
van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Human Molecular Genetics. 5: 581-90. PMID 8733123 DOI: 10.1093/Hmg/5.5.581 |
0.685 |
|
| 1996 |
Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Mohrenweiser H, Litt M, Hofker MH, Haan J, Ferrari MD, Frants RR. A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group. European Journal of Human Genetics : Ejhg. 4: 321-8. PMID 9043864 DOI: 10.1159/000472226 |
0.494 |
|
| 1996 |
Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, ... Frants RR, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 87: 543-52. PMID 8898206 DOI: 10.1016/S0092-8674(00)81373-2 |
0.424 |
|
| 1996 |
Kremer H, Kuyt LP, van den Helm B, van Reen M, Leunissen JA, Hamel BC, Jansen C, Mariman EC, Frants RR, Padberg GW. Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. Human Molecular Genetics. 5: 1367-71. PMID 8872479 DOI: 10.1093/Hmg/5.9.1367 |
0.636 |
|
| 1996 |
Hoffer MJV, Bredie SJH, Boomsma DI, Reymer PWA, Kastelein JJP, Knijff Pd, Demacker PNM, Stalenhoef AFH, Havekes LM, Frants RR. The lipoprotein lipase (Asn291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia Atherosclerosis. 119: 159-167. PMID 8808493 DOI: 10.1016/0021-9150(95)05641-6 |
0.327 |
|
| 1996 |
Terwindt GM, Ophoff RA, Haan J, Frants RR, Ferrari MD. Familial hemiplegic migraine: A clinical comparison of families linked and unlinked to chromosome 19 Cephalalgia. 16: 153-155. PMID 8734765 DOI: 10.1046/J.1468-2982.1996.1603153.X |
0.44 |
|
| 1996 |
Tupler R, Berardinelli A, Barbierato L, Frants R, Hewitt JE, Lanzi G, Maraschio P, Tiepolo L. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. Journal of Medical Genetics. 33: 366-370. PMID 8733044 DOI: 10.1136/Jmg.33.5.366 |
0.476 |
|
| 1996 |
Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genetics. 13: 114-6. PMID 8673088 DOI: 10.1038/Ng0596-114 |
0.337 |
|
| 1995 |
Wielaard R, Bornebroek M, Ophoff RA, Winter-Warnars HAO, Scheltens P, Frants RR, Ferrari MD, Haan J. A four-generation Dutch family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), linked to chromosome 19p13. Clinical Neurology and Neurosurgery. 97: 307-313. PMID 8599897 DOI: 10.1016/0303-8467(95)00068-U |
0.387 |
|
| 1995 |
Camp GV, Coucke P, Balemans W, Velzen DV, Bilt CVD, Laer LV, Smith RJH, Fukushima K, Padberg GW, Frants RR, Heyning PVD, Smith SD, Huizing EH, Willems PJ. Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15 Human Molecular Genetics. 4: 2159-2163. PMID 8589696 DOI: 10.1093/Hmg/4.11.2159 |
0.407 |
|
| 1995 |
May A, Ophoff RA, Terwindt GM, Urban C, Eijk Rv, Haan J, Diener HC, Lindhout D, Frants RR, Sandkuijl LA, Ferrari MD. Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura. Human Genetics. 96: 604-608. PMID 8530012 DOI: 10.1007/Bf00197420 |
0.479 |
|
| 1995 |
Tijssen MA, Shiang R, van Deutekom J, Boerman RH, Wasmuth JJ, Sandkuijl LA, Frants RR, Padberg GW. Molecular genetic reevaluation of the Dutch hyperekplexia family. Archives of Neurology. 52: 578-82. PMID 7763205 DOI: 10.1001/Archneur.1995.00540300052012 |
0.629 |
|
| 1995 |
Gruis NA, Sandkuijl LA, van der Velden PA, Bergman W, Frants RR. CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. Melanoma Research. 5: 169-77. PMID 7640518 DOI: 10.1097/00008390-199506000-00005 |
0.328 |
|
| 1995 |
Dijk KWv, Steketee K, Havekes L, Frants R, Hofker M. Genomic and cDNA cloning of a novel mouse lipoxygenase gene Biochimica Et Biophysica Acta. 1259: 4-8. PMID 7492614 DOI: 10.1016/0005-2760(95)00158-9 |
0.31 |
|
| 1995 |
Padberg GW, Frants RR, Brouwer OF, Wijmenga C, Bakker E, Sandkuijl LA. Facioscapulohumeral muscular dystrophy in the dutch population Muscle & Nerve. 18: S81-S84. DOI: 10.1002/Mus.880181315 |
0.689 |
|
| 1995 |
Padberg GW, Brouwer OF, de Keizer RJW, Dijkman G, Wijmenga C, Grote JJ, Frants RR. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy Muscle & Nerve. 18: S73-S80. DOI: 10.1002/Mus.880181314 |
0.647 |
|
| 1995 |
Brouwer OF, Padberg GW, Bakker E, Wijmenga C, Frants RR. Early onset facioscapulohumeral muscular dystrophy Muscle & Nerve. 18: S67-S72. DOI: 10.1002/Mus.880181313 |
0.639 |
|
| 1995 |
Bakker E, Wijmenga C, Vossen RHAM, Padberg GW, Hewitt J, van Der Wielen M, Rasmussen K, Frants RR. The FSHD-linked locus D4F104S1 (p13E-11) ON 4q35 has a homologue on 10qter Muscle & Nerve. 18: S39-S44. DOI: 10.1002/Mus.880181309 |
0.727 |
|
| 1995 |
van Deutekom JCT, Hofker MH, Romberg S, van Geel M, Rommens J, Wright TJ, Hewitt JE, Padberg GW, Wijmenga C, Frants RR. Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35 Muscle & Nerve. 18: S19-S26. DOI: 10.1002/Mus.880181306 |
0.708 |
|
| 1995 |
Wijmenga C, Dauwerse HG, Padberg GW, Meyer N, Murray JC, Mills K, van Ommen GB, Hofker MH, Frants RR. Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35 Muscle & Nerve. 18: S14-S18. DOI: 10.1002/Mus.880181305 |
0.707 |
|
| 1994 |
Hennis BC, Frants RR, Bakker E, Vossen RHAM, Van der Poort EW, Blonden LA, Cox S, Khan PM, Spurr NK, Kluft C. Evidence for the absence of intron H of the histidine-rich glycoprotein (HRG) gene: Genetic mapping and in situ localization of HRG to chromosome 3q28-q29 Genomics. 19: 195-197. PMID 8188234 DOI: 10.1006/Geno.1994.1046 |
0.458 |
|
| 1994 |
Deutekom JCTv, Bruyn RPM, Boom Nvd, Sandkuijl LA, Padberg GW, Frants RR. Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome. Human Genetics. 93: 408-414. PMID 8168811 DOI: 10.1007/Bf00201665 |
0.429 |
|
| 1994 |
Zhao S, Maagdenberg AMJMVd, Vroom TFFP, Hooft FMV, Leuven JAG, Havekes LM, Frants RR, Laarse AVD, Smelt AHM. Lipoprotein Profiles in a Family with Two Mutants of Apolipoprotein E: Possible Association with Hypertriglyceridaemia but Not with Dysbetalipoproteinaemia Clinical Science. 86: 323-329. PMID 8156744 DOI: 10.1042/Cs0860323 |
0.325 |
|
| 1994 |
Brouwer OF, Padberg GW, Wijmenga C, Frants RR. Facioscapulohumeral muscular dystrophy in early childhood. Archives of Neurology. 51: 387-94. PMID 8155016 DOI: 10.1001/Archneur.1994.00540160085011 |
0.623 |
|
| 1994 |
Frijns CJ, Van Deutekom J, Frants RR, Jennekens FG. Dominant congenital benign spinal muscular atrophy. Muscle & Nerve. 17: 192-7. PMID 8114789 DOI: 10.1002/Mus.880170210 |
0.395 |
|
| 1994 |
Coucke P, Camp GV, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CWRJ, Kimberling WJ, Oostra BA, Heyning PHVD, Willems PJ. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. The New England Journal of Medicine. 331: 425-431. PMID 8035838 DOI: 10.1056/Nejm199408183310702 |
0.467 |
|
| 1994 |
Haan J, Terwindt GM, Bos PLJM, Ophoff RA, Frants RR, Ferrari MD. Familial hemiplegic migraine in the Netherlands Clinical Neurology and Neurosurgery. 96: 244-249. PMID 7988094 DOI: 10.1016/0303-8467(94)90076-0 |
0.353 |
|
| 1994 |
Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J, McClure M, Aitken JF, Anderson DE, Bergman W, Frants R, et al. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus Nature Genetics. 8: 22-26. PMID 7987388 DOI: 10.1038/Ng0994-22 |
0.452 |
|
| 1994 |
Ophoff RA, Eijk Rv, Sandkuijl LA, Terwindt GM, Grubben CPM, Haan J, Lindhout D, Ferrari MD, Frants RR. Genetic heterogeneity of familial hemiplegic migraine. Genomics. 22: 21-26. PMID 7959770 DOI: 10.1006/Geno.1994.1340 |
0.505 |
|
| 1994 |
Cacurri S, Deidda G, Piazzo N, Novelletto A, La Cesa I, Servidei S, Galluzzi G, Wijmenga C, Frants RR, Felicetti L. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD). Human Genetics. 94: 367-74. PMID 7927331 DOI: 10.1007/Bf00201595 |
0.598 |
|
| 1994 |
Wijmenga C, van Deutekom JC, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. Genomics. 19: 21-6. PMID 7910579 DOI: 10.1006/Geno.1994.1006 |
0.698 |
|
| 1994 |
Hazan J, Fontaine B, Bruyn RPM, Lamy C, Deutekom JCTv, Rime C, Dürr A, Melkl J, Lyon-Caen O, Agid Y, Munnich A, Padberg GW, Recondo Jd, Frants RR, Brice A, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p Human Molecular Genetics. 3: 1569-1573. PMID 7833913 DOI: 10.1093/Hmg/3.9.1569 |
0.461 |
|
| 1994 |
Bergman W, Gruis NA, Sandkuijl LA, Frants RR. Genetics Of Seven Dutch Familial Atypical Multiple Mole-Melanoma Syndrome Families : A Review Of Linkage Results Including Chromosomes 1 And 9 Journal of Investigative Dermatology. 103. DOI: 10.1038/Jid.1994.22 |
0.467 |
|
| 1993 |
Upadhyaya M, Jardine P, Maynard J, Farnham J, Sarfarazi M, Wijmenga C, Hewitt JE, Frants R, Harper PS, Lunt PW. Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements. Human Molecular Genetics. 2: 981-7. PMID 8364581 DOI: 10.1093/Hmg/2.7.981 |
0.579 |
|
| 1993 |
Bruyn RPM, Deutekom Jv, Frants RR, Padberg GW. Hereditary spastic paraparesis: Clinical and genetic data from a large Dutch family Clinical Neurology and Neurosurgery. 95: 125-129. PMID 8344010 DOI: 10.1016/0303-8467(93)90006-3 |
0.397 |
|
| 1993 |
Top B, Zee Avd, Havekes LM, Hooft FMv', Frants RR. Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis. Human Genetics. 91: 480-484. PMID 8314561 DOI: 10.1007/Bf00217776 |
0.37 |
|
| 1993 |
Peters DJM, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, Eijk Rv, Nørby S, Constantinou-Deltas CD, Pierides A, Briessenden JE, Frants RR, Ommen G-Bv, Breuning MH. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease Nature Genetics. 5: 359-362. PMID 8298643 DOI: 10.1038/Ng1293-359 |
0.493 |
|
| 1993 |
Hoffer MJV, Eck MMv, Havekes LM, Hofker MH, Frants RR. The mouse apolipoprotein C1 gene: structure and expression. Genomics. 18: 37-42. PMID 8276416 DOI: 10.1006/Geno.1993.1424 |
0.348 |
|
| 1993 |
Wijmenga C, Wright TJ, Baan MJ, Padberg GW, Williamson R, van Ommen GJ, Hewitt JE, Hofker MH, Frants RR. Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region. Human Molecular Genetics. 2: 1667-72. PMID 8268920 DOI: 10.1093/Hmg/2.10.1667 |
0.681 |
|
| 1993 |
Cobben JM, Scheffer H, De Visser M, Osinga J, Frants R, van der Steege G, Wijmenga C, ten Kate LP, van Ommen GJ, Buys CH. Linkage and apparent heterogeneity in proximal spinal muscular atrophies. Neuromuscular Disorders : Nmd. 3: 327-33. PMID 8268730 DOI: 10.1016/0960-8966(93)90026-G |
0.601 |
|
| 1993 |
Wijmenga C, Frants RR, Hewitt JE, van Deutekom JC, van Geel M, Wright TJ, Padberg GW, Hofker MH, van Ommen GJ. Molecular genetics of facioscapulohumeral muscular dystrophy. Neuromuscular Disorders : Nmd. 3: 487-91. PMID 8186699 |
0.555 |
|
| 1993 |
Wijmenga C, Winokur ST, Padberg GW, Skraastad MI, Altherr MR, Wasmuth JJ, Murray JC, Hofker MH, Frants RR. The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus. Human Genetics. 92: 198-203. PMID 8103757 DOI: 10.1007/Bf00219692 |
0.726 |
|
| 1993 |
Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR, Schultz P, Olandt S, Frants RR, Pericak-Vance MA, Griggs RC. Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events Nature Genetics. 4: 165-169. PMID 8102297 DOI: 10.1038/Ng0693-165 |
0.632 |
|
| 1993 |
Brouwer OF, Wijmenga C, Frants RR, Padberg GW. Facioscapulohumeral muscular dystrophy: the impact of genetic research. Clinical Neurology and Neurosurgery. 95: 9-21. PMID 8095870 DOI: 10.1016/0303-8467(93)90086-V |
0.685 |
|
| 1993 |
Wright TJ, Wijmenga C, Clark LN, Frants RR, Williamson R, Hewitt JE. Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Human Molecular Genetics. 2: 1673-8. PMID 7903581 DOI: 10.1093/Hmg/2.10.1673 |
0.529 |
|
| 1993 |
Hoffer MJV, Eck MMv, Havekes LM, Hofker MH, Frants RR. Structure and expression of the mouse apolipoprotein C2 gene. Genomics. 17: 45-51. PMID 7691714 DOI: 10.1006/Geno.1993.1281 |
0.301 |
|
| 1992 |
Top B, Uitterlinden AG, Zee Avd, Kastelein JJP, Leuven JAG, Havekes LM, Frants RR. Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis. Human Genetics. 89: 561-565. PMID 1634234 DOI: 10.1007/Bf00219185 |
0.366 |
|
| 1992 |
Vermeer BJ, Frants RR, Havekes LM. Familial Dysbetalipoproteinemia: A Genetically Heterogeneous Disease Caused by Mutations of the Ligand Apolipoprotein E Journal of Investigative Dermatology. 98. PMID 1588125 DOI: 10.1111/1523-1747.Ep12462212 |
0.301 |
|
| 1992 |
Wijmenga C, Deaven L, Frants RR. Dinucleotide repeat polymorphism adjacent to the ANT1 gene on 4q35. Nucleic Acids Research. 20: 1161. PMID 1549496 DOI: 10.1093/Nar/20.5.1161 |
0.462 |
|
| 1992 |
Gruis NA, Bavinck JNB, Steijlen PM, Schroeff JGVD, Haeringen AV, Happle R, Mariman E, Beersum SECV, Uitto J, Vermeer BJ, Frants RR. Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds. Journal of Investigative Dermatology. 99: 528-530. PMID 1358979 DOI: 10.1111/1523-1747.Ep12658066 |
0.358 |
|
| 1992 |
Padberg G, Wijmenga C, Upadhyaya M, Weiffenbach B, Brouwer O, Murray J, Pericak-Vance M, Lunt P, Frants R, Harper P, Sarfarazi M. 17. Regional mapping of the facioscapulohumeral muscular dystrophy gene on 4q35: linkage analysis of the International Consortium Clinical Neurology and Neurosurgery. 94: 79. DOI: 10.1016/0303-8467(92)90142-P |
0.692 |
|
| 1991 |
Top B, Boorn Nvd, Zee Avd, Havekes LM, Frants RR. Detection of allele-specific transcripts by the polymerase chain reaction (AST-PCR) Biochemical and Biophysical Research Communications. 178: 1319-1325. PMID 1714719 DOI: 10.1016/0006-291X(91)91038-E |
0.36 |
|
| 1991 |
Groot PC, Mager WH, Frants RR. Interpretation of polymorphic DNA patterns in the human α-amylase multigene family Genomics. 10: 779-785. PMID 1679752 DOI: 10.1016/0888-7543(91)90463-O |
0.401 |
|
| 1990 |
Wijmenga C, Frants RR, Brouwer OF, van der Klift HM, Khan PM, Padberg GW. Facioscapulohumeral muscular dystrophy gene in Dutch families is not linked to markers for familial adenomatous polyposis on the long arm of chromosome 5 Journal of the Neurological Sciences. 95: 225-229. PMID 2157824 DOI: 10.1016/0022-510X(90)90245-I |
0.717 |
|
| 1990 |
Groot PC, Mager WH, Henriquez NV, Pronk JC, Arwert F, Planta RJ, Eriksson AW, Frants RR. Evolution of the human α-amylase multigene family through unequal, homologous, and inter- and intrachromosomal crossovers Genomics. 8: 97-105. PMID 2081604 DOI: 10.1016/0888-7543(90)90230-R |
0.39 |
|
| 1990 |
Top B, Koeleman BP, Gevers Leuven JA, Havekes LM, Frants RR. Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion. Atherosclerosis. 83: 127-36. PMID 1978682 DOI: 10.1016/0021-9150(90)90158-F |
0.312 |
|
| 1990 |
Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet (London, England). 336: 651-3. PMID 1975852 DOI: 10.1016/0140-6736(90)92148-B |
0.728 |
|
| 1990 |
Eyk RV, Chan L, Top B, Stalenhoef AFH, Havekes LM, Frants RR. An additional MspI RFLP at the human hepatic lipase (HL) gene locus. Nucleic Acids Research. 18: 3110-3110. PMID 1693423 DOI: 10.1093/Nar/18.10.3110 |
0.319 |
|
| 1989 |
Groot PC, Bleeker MJ, Pronk JC, Arwert F, Mager WH, Planta RJ, Eriksson AW, Frants RR. The human alpha-amylase multigene family consists of haplotypes with variable numbers of genes. Genomics. 5: 29-42. PMID 2788608 DOI: 10.1016/0888-7543(89)90083-9 |
0.398 |
|
| 1989 |
Hofker MH, Nukiwa T, Paassen HMBv, Nelen M, Kramps JA, Klasen EC, Frants RR, Crystal RG. A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen. Human Genetics. 81: 264-268. PMID 2784123 DOI: 10.1007/Bf00279001 |
0.351 |
|
| 1989 |
Bebelman JP, Evers MPJ, Zelle B, Bank R, Pronk JC, Meuwissen SGM, Mager WH, Planta RJ, Eriksson AW, Frants RR. Family and population studies on the human pepsinogen A multigene family. Human Genetics. 82: 142-146. PMID 2566575 DOI: 10.1007/Bf00284047 |
0.421 |
|
| 1989 |
van Haeringen A, Bergman W, Nelen MR, van der Kooij-Meijs E, Hendrikse I, Wijnen JT, Khan PM, Klasen EC, Frants RR. Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in dutch families Genomics. 5: 61-64. PMID 2504660 DOI: 10.1016/0888-7543(89)90086-4 |
0.485 |
|
| 1989 |
Grout PC, Mager WH, Frants RR, Meisler MH, Samuelson LC. The human amylase-encoding genes amy2 and amy3 are identical to AMY2A and AMY2B Gene. 85: 567-568. PMID 2483397 DOI: 10.1016/0378-1119(89)90454-X |
0.331 |
|
| 1988 |
Hofker MH, Nelen M, Klasen EC, Nukiwa T, Curiel D, Crystal RG, Frants RR. Cloning and characterization of an α1-antitrypsin like gene 12 kb downstream of the genuine α1-antitrypsin gene Biochemical and Biophysical Research Communications. 155: 634-642. PMID 2901833 DOI: 10.1016/S0006-291X(88)80542-4 |
0.363 |
|
| 1981 |
Saari KM, Solja J, Häkli J, Seppänen S, Tiilikainen A, Koskimies S, Eriksson A, Frants R. Genetic Background of Acute Anterior Uveitis American Journal of Ophthalmology. 91: 711-720. PMID 6972700 DOI: 10.1016/0002-9394(81)90003-9 |
0.307 |
|
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