| Year |
Citation |
Score |
| 2023 |
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, ... ... Padberg GW, et al. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature Genetics. PMID 37386251 DOI: 10.1038/s41588-023-01424-9 |
0.443 |
|
| 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 |
0.493 |
|
| 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, ... ... Padberg GW, 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 |
0.58 |
|
| 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 |
0.618 |
|
| 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 |
0.597 |
|
| 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 |
0.543 |
|
| 2006 |
Michielse CB, Bhat M, Brady A, Jafrid H, van den Hurk JAJM, Raashid Y, Brunner HG, van Bokhoven H, Padberg GW. Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes European Journal of Human Genetics. 14: 1306-1312. PMID 16912702 DOI: 10.1038/Sj.Ejhg.5201706 |
0.453 |
|
| 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 |
0.494 |
|
| 2005 |
Van Der Zwaag B, Burbach JPH, Scharfe C, Oefner PJ, Brunner HG, Padberg GW, Van Bokhoven H. Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse Genomics. 86: 55-67. PMID 15953540 DOI: 10.1016/J.Ygeno.2005.03.007 |
0.381 |
|
| 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 |
0.558 |
|
| 2005 |
Hengstman GJ, van Brenk L, Vree Egberts WT, van der Kooi EL, Borm GF, Padberg GW, van Venrooij WJ, van Engelen BG. High specificity of myositis specific autoantibodies for myositis compared with other neuromuscular disorders. Journal of Neurology. 252: 534-7. PMID 15726253 DOI: 10.1007/S00415-005-0683-5 |
0.306 |
|
| 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 |
0.627 |
|
| 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 |
0.6 |
|
| 2004 |
de Kovel CG, Hol FA, Heister JG, Willemen JJ, Sandkuijl LA, Franke B, Padberg GW. Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family. Journal of Medical Genetics. 41: 652-7. PMID 15342694 DOI: 10.1136/Jmg.2003.012294 |
0.442 |
|
| 2004 |
Van Der Zwaag B, Verzijl HTFM, Wichers KH, Beltran-Valero De Bernabe D, Brunner HG, Van Bokhoven H, Padberg GW. Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients Pediatric Neurology. 31: 114-118. PMID 15301830 DOI: 10.1016/J.Pediatrneurol.2004.02.004 |
0.331 |
|
| 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 |
0.526 |
|
| 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 |
0.57 |
|
| 2004 |
van Koningsbruggen S, Dirks RW, Mommaas AM, Onderwater JJ, Deidda G, Padberg GW, Frants RR, van der Maarel SM. FRG1P is localised in the nucleolus, Cajal bodies, and speckles Journal of Medical Genetics. 41. PMID 15060122 DOI: 10.1136/Jmg2003.012781 |
0.442 |
|
| 2004 |
Wohlgemuth M, Lemmers RJ, van der Kooi EL, van der Wielen MJ, van Overveld PG, Dauwerse H, Bakker E, Frants RR, Padberg GW, van der Maarel SM. Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles. Neurology. 61: 909-13. PMID 14557558 DOI: 10.1212/WNL.61.7.909 |
0.334 |
|
| 2004 |
Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology. 61: 178-83. PMID 12874395 DOI: 10.1212/01.WNL.0000078889.51444.81 |
0.382 |
|
| 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 |
0.546 |
|
| 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 |
0.519 |
|
| 2002 |
Van de Wetering RAC, Gabreëls-Festen AAWM, Timmerman V, Padberg GW, Gabreëls FJM, Mariman ECM. Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene Neuromuscular Disorders. 12: 651-655. PMID 12207933 DOI: 10.1016/S0960-8966(02)00025-1 |
0.397 |
|
| 2002 |
Van Der Zwaag B, Verzijl HT, Beltran-Valero De Bernabe D, Schuster VL, Van Bokhoven H, Kremer H, Van Reen M, Wichers GH, Brunner HG, Padberg GW. Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10. Journal of Medical Genetics. 39: E30. PMID 12070262 DOI: 10.1136/Jmg.39.6.E30 |
0.505 |
|
| 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 |
0.573 |
|
| 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. |
0.435 |
|
| 2000 |
van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR. De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. American Journal of Human Genetics. 66: 26-35. PMID 10631134 DOI: 10.1086/302730 |
0.397 |
|
| 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 |
0.606 |
|
| 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 |
0.61 |
|
| 1998 |
Lemmers RJ, van der Maarel SM, van Deutekom JC, van der Wielen MJ, Deidda G, Dauwerse HG, Hewitt J, Hofker M, Bakker E, Padberg GW, Frants RR. Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Human Molecular Genetics. 7: 1207-14. PMID 9668160 DOI: 10.1093/HMG/7.8.1207 |
0.402 |
|
| 1997 |
Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG, Mariman EC, Padberg GW, Kremer H. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Human Molecular Genetics. 6: 1383-7. PMID 9259288 DOI: 10.1093/hmg/6.8.1383 |
0.301 |
|
| 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 |
0.612 |
|
| 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 |
0.619 |
|
| 1996 |
van der Kooi AJ, Barth PG, Busch HF, de Haan R, Ginjaar HB, van Essen AJ, van Hooff LJ, Höweler CJ, Jennekens FG, Jongen P, Oosterhuis HJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, et al. The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands. Brain : a Journal of Neurology. 119: 1471-80. PMID 8931572 DOI: 10.1093/Brain/119.5.1471 |
0.385 |
|
| 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 |
0.592 |
|
| 1996 |
Bakker E, Van der Wielen MJ, Voorhoeve E, Ippel PF, Padberg GW, Frants RR, Wijmenga C. Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. Journal of Medical Genetics. 33: 29-35. PMID 8825045 DOI: 10.1136/Jmg.33.1.29 |
0.574 |
|
| 1996 |
Tijssen MAJ, Padberg GW, van Dijk JG. The Startle Pattern in the Minor Form of Hyperekplexia Archives of Neurology. 53: 608-613. DOI: 10.1001/Archneur.1996.00550070046011 |
0.316 |
|
| 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 |
0.607 |
|
| 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 |
0.637 |
|
| 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 |
0.6 |
|
| 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 |
0.563 |
|
| 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 |
0.705 |
|
| 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 |
0.682 |
|
| 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 |
0.689 |
|
| 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 |
0.532 |
|
| 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 |
0.635 |
|
| 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 |
0.62 |
|
| 1993 |
Wijmenga C, Hofker MH, Padberg GW, Frants RR. Genetic mapping of facioscapulohumeral muscular dystrophy. Molecular and Cell Biology of Human Diseases Series. 3: 111-38. PMID 8111536 DOI: 10.1007/978-94-011-1528-5_5 |
0.404 |
|
| 1993 |
van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Human Molecular Genetics. 2: 2037-42. PMID 8111371 DOI: 10.1093/HMG/2.12.2037 |
0.493 |
|
| 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 |
0.68 |
|
| 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 |
0.614 |
|
| 1992 |
Wijmenga C, Brouwer OF, Padberg GW, Frants RR. Transmission of de-novo mutation associated with facioscapulohumeral muscular dystrophy. Lancet (London, England). 340: 985-6. PMID 1357400 DOI: 10.1016/0140-6736(92)92885-J |
0.353 |
|
| 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 |
0.635 |
|
| 1991 |
Wijmenga C, Padberg GW, Moerer P, Wiegant J, Liem L, Brouwer OF, Milner EC, Weber JL, van Ommen GB, Sandkuyl LA. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics. 9: 570-5. PMID 2037288 DOI: 10.1016/0888-7543(91)90348-I |
0.596 |
|
| 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 |
0.647 |
|
| 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 |
0.673 |
|
| 1989 |
Sarfarazi M, Upadhyaya M, Padberg G, Pericak-Vance M, Siddique T, Lucotte G, Lunt P. An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease. Journal of Medical Genetics. 26: 481-4. PMID 2769720 DOI: 10.1136/Jmg.26.8.481 |
0.464 |
|
| 1988 |
Padberg GW, Klasen EC, Volkers WS, De Lange GG, Wintzen AR. Linkage studies in facioscapulo-humeral muscular dystrophy Muscle & Nerve. 11: 833-835. DOI: 10.1002/MUS.880110806 |
0.333 |
|
| 1984 |
Padberg G, Eriksson AW, Volkers WS, Bernini L, Van Loghem E, Khan PM, Nijenhuis LE, Pronk JC, Schreuder GMT. Linkage studies in autosomal dominant facioscapulohumeral muscular dystrophy Journal of the Neurological Sciences. 65: 261-268. PMID 6593433 DOI: 10.1016/0022-510X(84)90090-X |
0.497 |
|
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