| Year |
Citation |
Score |
| 2020 |
Rieke JM, Zhang R, Braun D, Yilmaz Ö, Japp AS, Lopes FM, Pleschka M, Hilger AC, Schneider S, Newman WG, Beaman GM, Nordenskjöld A, Ebert AK, Promm M, Rösch WH, ... ... Ludwig M, et al. Is Involved in Urinary Tract and Urorectal Development. Frontiers in Cell and Developmental Biology. 8: 567. PMID 32850778 DOI: 10.3389/Fcell.2020.00567 |
0.355 |
|
| 2020 |
Zhang R, Gehlen J, Kawalia A, Melissari MT, Dakal TC, Menon AM, Höfele J, Riedhammer K, Waffenschmidt L, Fabian J, Breuer K, Kalanithy J, Hilger AC, Sharma A, Hölscher A, ... ... Ludwig M, et al. Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. Plos One. 15: e0234246. PMID 32502225 DOI: 10.1371/journal.pone.0234246 |
0.355 |
|
| 2020 |
Sharma A, Liu H, Tobar-Tosse F, Chand Dakal T, Ludwig M, Holz FG, Loeffler KU, Wüllner U, Herwig-Carl MC. Ubiquitin Carboxyl-Terminal Hydrolases (UCHs): Potential Mediators for Cancer and Neurodegeneration. International Journal of Molecular Sciences. 21. PMID 32486284 DOI: 10.3390/ijms21113910 |
0.3 |
|
| 2020 |
Güngör T, Eroğlu FK, Yazılıtaş F, Gür G, Çakıcı EK, Ludwig M, Bülbül M. A case of Type 1 Dent disease presenting with isolated persistent proteinuria. Turk Pediatri Arsivi. 55: 72-75. PMID 32231453 DOI: 10.5152/TurkPediatriArs.2018.6540 |
0.332 |
|
| 2019 |
Sharma A, Biswas A, Liu H, Sen S, Paruchuri A, Katsonis P, Lichtarge O, Chand Dakal T, Maulik U, Gromiha MM, Bandyopadhyay S, Ludwig M, Holz FG, Loeffler KU, Herwig-Carl MC. Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma. Cancers. 11. PMID 31635116 DOI: 10.3390/Cancers11101600 |
0.336 |
|
| 2019 |
van de Putte R, Wijers CHW, Reutter H, Vermeulen SH, Marcelis CLM, Brosens E, Broens PMA, Homberg M, Ludwig M, Jenetzky E, Zwink N, Sloots CEJ, de Klein A, Brooks AS, Hofstra RMW, et al. Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations. Plos One. 14: e0217477. PMID 31136621 DOI: 10.1371/journal.pone.0217477 |
0.323 |
|
| 2019 |
Kolvenbach CM, Dworschak GC, Frese S, Japp AS, Schuster P, Wenzlitschke N, Yilmaz Ö, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause F, Schneider R, Taranta-Janusz K, Szczepańska M, ... ... Ludwig M, et al. Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. American Journal of Human Genetics. 104: 994-1006. PMID 31051115 DOI: 10.1016/J.Ajhg.2019.03.023 |
0.344 |
|
| 2019 |
Kause F, Zhang R, Ludwig M, Schmiedeke E, Rissmann A, Thiele H, Altmueller J, Herms S, Hilger AC, Hildebrandt F, Reutter H. HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Research. PMID 30887706 DOI: 10.1002/bdr2.1493 |
0.305 |
|
| 2018 |
Sharma A, Dakal TC, Ludwig M, Fröhlich H, Mathur R, Reutter H. Towards a Central Role of in the Bladder Exstrophy⁻Epispadias Complex (BEEC): Computational Characterization of Genetic Variants and Structural Modelling. Genes. 9. PMID 30563179 DOI: 10.3390/genes9120609 |
0.357 |
|
| 2018 |
Weitensteiner V, Zhang R, Bungenberg J, Marks M, Gehlen J, Ralser DJ, Hilger AC, Sharma A, Schumacher J, Gembruch U, Merz WM, Becker A, Altmüller J, Thiele H, Herrmann BG, ... ... Ludwig M, et al. Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene. Birth Defects Research. PMID 29388391 DOI: 10.1002/Bdr2.1200 |
0.34 |
|
| 2018 |
Kause F, Reutter H, Marsch F, Thiele H, Altmüller J, Ludwig M, Zhang R. Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? Molecular Medicine Reports. 17: 3200-3205. PMID 29257230 DOI: 10.3892/mmr.2017.8196 |
0.394 |
|
| 2017 |
Grosse G, Hilger A, Ludwig M, Reutter H, Lorenzen F, Even G, Holterhus PM, Woelfle J. Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency. Hormone Research in Paediatrics. PMID 29073591 DOI: 10.1159/000480505 |
0.308 |
|
| 2017 |
Zhang R, Knapp M, Kause F, Reutter H, Ludwig M. Role of the LF-SINE-Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy. Journal of Pediatric Genetics. 6: 169-173. PMID 28794909 DOI: 10.1055/s-0037-1602387 |
0.365 |
|
| 2017 |
Zhang R, Marsch F, Kause F, Degenhardt F, Schmiedeke E, Märzheuser S, Hoppe B, Bachour H, Boemers TM, Schäfer M, Spychalski N, Neser J, Leonhardt J, Kosch F, Ure B, ... ... Ludwig M, et al. Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations. Birth Defects Research. PMID 28605140 DOI: 10.1002/bdr2.1042 |
0.326 |
|
| 2017 |
Zhang R, Knapp M, Suzuki K, Kajioka D, Schmidt JM, Winkler J, Yilmaz Ö, Pleschka M, Cao J, Kockum CC, Barker G, Holmdahl G, Beaman G, Keene D, Woolf AS, ... ... Ludwig M, et al. ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. Scientific Reports. 7: 42170. PMID 28176844 DOI: 10.1038/Srep42170 |
0.368 |
|
| 2017 |
Kularatnam GAM, Subasinghe V, Warawitage DH, Jayasena KLS, Recker F, Jasinge EA, Waidyanatha S, Ludwig M. Lowe syndrome: Case report of a patient with a novel mutation in the OCRL gene Sri Lanka Journal of Child Health. 46: 281. DOI: 10.4038/Sljch.V46I3.8334 |
0.347 |
|
| 2016 |
Degenhardt F, Heinemann B, Strohmaier J, Pfohl MA, Giegling I, Hofmann A, Ludwig KU, Witt SH, Ludwig M, Forstner AJ, Albus M, Schwab SG, Borrmann-Hassenbach M, Lennertz L, Wagner M, et al. Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2. Psychiatric Genetics. PMID 27668412 DOI: 10.1097/YPG.0000000000000145 |
0.35 |
|
| 2016 |
Suzuki K, Matsumaru D, Matsushita S, Murashima A, Ludwig M, Reutter H, Yamada G. Epispadias and the associated embryopathies; genetic and developmental basis. Clinical Genetics. PMID 27649475 DOI: 10.1111/cge.12871 |
0.336 |
|
| 2016 |
Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, Choinitzki VG, Hölscher A, Hoffmann P, Herms S, Boemers TM, Ure BM, Lacher M, Ludwig M, Eussen BH, van der Helm RM, et al. Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula. European Journal of Human Genetics : Ejhg. PMID 27436264 DOI: 10.1038/ejhg.2016.86 |
0.366 |
|
| 2016 |
Bökenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatric Nephrology (Berlin, Germany). PMID 27011217 DOI: 10.1007/s00467-016-3343-3 |
0.335 |
|
| 2016 |
Reutter H, Hilger AC, Hildebrandt F, Ludwig M. Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. Pediatric Nephrology (Berlin, Germany). PMID 26857713 DOI: 10.1007/s00467-016-3335-3 |
0.33 |
|
| 2015 |
Zhang R, Thiele H, Bartmann P, Hilger AC, Berg C, Herberg U, Klingmüller D, Nürnberg P, Ludwig M, Reutter H. Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. Twin Research and Human Genetics : the Official Journal of the International Society For Twin Studies. 1-6. PMID 26681452 DOI: 10.1017/thg.2015.93 |
0.352 |
|
| 2015 |
Szczepanska M, Zaniew M, Recker F, Mizerska-Wasiak M, Zaluska-Lesniewska I, Kilis-Pstrusinska K, Adamczyk P, Zawadzki J, Pawlaczyk K, Ludwig M, Sikora P. Dent disease in children: diagnostic and therapeutic considerations. Clinical Nephrology. 84: 222-30. PMID 26308078 DOI: 10.5414/CN108522 |
0.357 |
|
| 2015 |
Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, et al. Targeted Re-Sequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VATER Association. Human Mutation. PMID 26294094 DOI: 10.1002/humu.22859 |
0.401 |
|
| 2015 |
Weber S, Büscher AK, Hagmann H, Liebau MC, Heberle C, Ludwig M, Rath S, Alberer M, Beissert A, Zenker M, Hoyer PF, Konrad M, Klein HG, Hoefele J. Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing. Pediatric Nephrology (Berlin, Germany). PMID 26248470 DOI: 10.1007/s00467-015-3167-6 |
0.385 |
|
| 2015 |
Jiang P, Ludwig MZ, Kreitman M, Reinitz J. Natural variation of the expression pattern of the segmentation gene even-skipped in melanogaster. Developmental Biology. PMID 26129990 DOI: 10.1016/J.Ydbio.2015.06.019 |
0.573 |
|
| 2015 |
Baranowska Körberg I, Hofmeister W, Markljung E, Cao J, Nilsson D, Ludwig M, Draaken M, Holmdahl G, Barker G, Reutter H, Vukojevi? V, Clementson Kockum C, Lundin J, Lindstrand A, Nordenskjöld A. WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish. Human Molecular Genetics. PMID 26105184 DOI: 10.1093/hmg/ddv225 |
0.373 |
|
| 2015 |
Basmanav FB, Forstner AJ, Fier H, Herms S, Meier S, Degenhardt F, Hoffmann P, Barth S, Fricker N, Strohmaier J, Witt SH, Ludwig M, Schmael C, Moebus S, Maier W, et al. Investigation of the role of TCF4 rare sequence variants in schizophrenia. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 168: 354-62. PMID 26010163 DOI: 10.1002/ajmg.b.32318 |
0.312 |
|
| 2015 |
Gurung N, Grosse G, Draaken M, Hilger AC, Nauman N, Müller A, Gembruch U, Merz WM, Reutter H, Ludwig M. Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse. Molecular Medicine Reports. 12: 1579-83. PMID 25775927 DOI: 10.3892/mmr.2015.3486 |
0.377 |
|
| 2015 |
Draaken M, Knapp M, Pennimpede T, Schmidt JM, Ebert AK, Rösch W, Stein R, Utsch B, Hirsch K, Boemers TM, Mangold E, Heilmann S, Ludwig KU, Jenetzky E, Zwink N, ... ... Ludwig M, et al. Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy. Plos Genetics. 11: e1005024. PMID 25763902 DOI: 10.1371/journal.pgen.1005024 |
0.329 |
|
| 2015 |
Dworschak GC, Draaken M, Hilger AC, Schramm C, Bartels E, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Lacher M, Jenetzky E, Zwink N, Schmidt D, Nöthen MM, Ludwig M, et al. Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities. Birth Defects Research. Part a, Clinical and Molecular Teratology. 103: 235-42. PMID 25250690 DOI: 10.1002/bdra.23321 |
0.359 |
|
| 2014 |
Zeidler C, Woelfle J, Draaken M, Mughal SS, Große G, Hilger AC, Dworschak GC, Boemers TM, Jenetzky E, Zwink N, Lacher M, Schmidt D, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, ... ... Ludwig M, et al. Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. Birth Defects Research. Part a, Clinical and Molecular Teratology. 100: 750-9. PMID 25131394 DOI: 10.1002/bdra.23278 |
0.362 |
|
| 2014 |
Reutter H, Draaken M, Pennimpede T, Wittler L, Brockschmidt FF, Ebert AK, Bartels E, Rösch W, Boemers TM, Hirsch K, Schmiedeke E, Meesters C, Becker T, Stein R, Utsch B, ... ... Ludwig M, et al. Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder. Human Molecular Genetics. 23: 5536-44. PMID 24852367 DOI: 10.1093/hmg/ddu259 |
0.341 |
|
| 2014 |
Palsson A, Wesolowska N, Reynisdóttir S, Ludwig MZ, Kreitman M. Naturally occurring deletions of hunchback binding sites in the even-skipped stripe 3+7 enhancer. Plos One. 9: e91924. PMID 24786295 DOI: 10.1371/journal.pone.0091924 |
0.613 |
|
| 2014 |
Draaken M, Baudisch F, Timmermann B, Kuhl H, Kerick M, Proske J, Wittler L, Pennimpede T, Ebert AK, Rösch W, Stein R, Bartels E, von Lowtzow C, Boemers TM, Herms S, ... ... Ludwig M, et al. Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region. Birth Defects Research. Part a, Clinical and Molecular Teratology. 100: 512-7. PMID 24764164 DOI: 10.1002/bdra.23249 |
0.351 |
|
| 2014 |
Reutter H, Gurung N, Ludwig M. Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene. American Journal of Medical Genetics. Part A. 164: 1611-3. PMID 24668915 DOI: 10.1002/ajmg.a.36479 |
0.313 |
|
| 2014 |
Martinez C, Rest JS, Kim AR, Ludwig M, Kreitman M, White K, Reinitz J. Ancestral resurrection of the Drosophila S2E enhancer reveals accessible evolutionary paths through compensatory change. Molecular Biology and Evolution. 31: 903-16. PMID 24408913 DOI: 10.1093/Molbev/Msu042 |
0.664 |
|
| 2014 |
He BZ, Ludwig MZ, Dickerson DA, Barse L, Arun B, Vilhjálmsson BJ, Jiang P, Park SY, Tamarina NA, Selleck SB, Wittkopp PJ, Bell GI, Kreitman M. Effect of genetic variation in a Drosophila model of diabetes-associated misfolded human proinsulin. Genetics. 196: 557-67. PMID 24281155 DOI: 10.1534/Genetics.113.157800 |
0.59 |
|
| 2014 |
Park SY, Ludwig MZ, Tamarina NA, He BZ, Carl SH, Dickerson DA, Barse L, Arun B, Williams CL, Miles CM, Philipson LH, Steiner DF, Bell GI, Kreitman M. Genetic complexity in a Drosophila model of diabetes-associated misfolded human proinsulin. Genetics. 196: 539-55. PMID 24281154 DOI: 10.1534/Genetics.113.157602 |
0.56 |
|
| 2014 |
Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, ... ... Ludwig M, et al. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney International. 85: 1310-7. PMID 24152966 DOI: 10.1038/ki.2013.417 |
0.347 |
|
| 2013 |
Recker F, Reutter H, Ludwig M. Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects. Journal of Pediatric Genetics. 2: 53-68. PMID 27625841 DOI: 10.3233/PGE-13049 |
0.342 |
|
| 2013 |
Dworschak GC, Draaken M, Marcelis C, de Blaauw I, Pfundt R, van Rooij IA, Bartels E, Hilger A, Jenetzky E, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, ... ... Ludwig M, et al. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations. American Journal of Medical Genetics. Part A. 161: 3035-41. PMID 24038947 DOI: 10.1002/ajmg.a.36153 |
0.386 |
|
| 2013 |
Dworschak GC, Draaken M, Hilger A, Born M, Reutter H, Ludwig M. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. International Journal of Molecular Medicine. 32: 174-8. PMID 23670161 DOI: 10.3892/ijmm.2013.1373 |
0.399 |
|
| 2013 |
Baudisch F, Draaken M, Bartels E, Schmiedeke E, Bagci S, Bartmann P, Nöthen MM, Ludwig M, Reutter H. CNV analysis in monozygotic twin pairs discordant for urorectal malformations. Twin Research and Human Genetics : the Official Journal of the International Society For Twin Studies. 16: 802-7. PMID 23659922 DOI: 10.1017/thg.2013.29 |
0.345 |
|
| 2013 |
Reutter H, Ludwig M. VATER/VACTERL Association: Evidence for the Role of Genetic Factors. Molecular Syndromology. 4: 16-9. PMID 23653572 DOI: 10.1159/000345300 |
0.382 |
|
| 2013 |
Hilger A, Schramm C, Pennimpede T, Wittler L, Dworschak GC, Bartels E, Engels H, Zink AM, Degenhardt F, Müller AM, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, ... ... Ludwig M, et al. De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. European Journal of Human Genetics : Ejhg. 21: 1377-82. PMID 23549274 DOI: 10.1038/ejhg.2013.58 |
0.357 |
|
| 2013 |
Manu, Ludwig MZ, Kreitman M. Sex-specific pattern formation during early Drosophila development. Genetics. 194: 163-73. PMID 23410834 DOI: 10.1534/genetics.112.148205 |
0.559 |
|
| 2013 |
Draaken M, Mughal SS, Pennimpede T, Wolter S, Wittler L, Ebert AK, Rösch W, Stein R, Bartels E, Schmidt D, Boemers TM, Schmiedeke E, Hoffmann P, Moebus S, Herrmann BG, ... ... Ludwig M, et al. Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12. Birth Defects Research. Part a, Clinical and Molecular Teratology. 97: 133-9. PMID 23359465 DOI: 10.1002/bdra.23112 |
0.414 |
|
| 2013 |
Pasternack SM, Böckenhauer D, Refke M, Tasic V, Draaken M, Conrad C, Born M, Betz RC, Reutter H, Ludwig M. A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL. Klinische PäDiatrie. 225: 29-33. PMID 22915452 DOI: 10.1055/s-0032-1321900 |
0.376 |
|
| 2012 |
Ludwig M, Reutter H. Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations. Journal of Pediatric Genetics. 1: 209-16. PMID 27625825 DOI: 10.3233/PGE-12033 |
0.351 |
|
| 2012 |
Böckenhauer D, Bökenkamp A, Nuutinen M, Unwin R, Van't Hoff W, Sirimanna T, Vrljicak K, Ludwig M. Novel OCRL mutations in patients with Dent-2 disease. Journal of Pediatric Genetics. 1: 15-23. PMID 27625797 DOI: 10.3233/PGE-2012-005 |
0.326 |
|
| 2012 |
Draaken M, Prins W, Zeidler C, Hilger A, Mughal SS, Latus J, Boemers TM, Schmidt D, Schmiedeke E, Spychalski N, Bartels E, Nöthen MM, Reutter H, Ludwig M. Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene. International Journal of Molecular Medicine. 30: 1459-64. PMID 22961180 DOI: 10.3892/ijmm.2012.1124 |
0.374 |
|
| 2012 |
Wittler L, Hilger A, Proske J, Pennimpede T, Draaken M, Ebert AK, Rösch W, Stein R, Nöthen MM, Reutter H, Ludwig M. Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias. Gene. 506: 392-5. PMID 22766399 DOI: 10.1016/j.gene.2012.06.082 |
0.372 |
|
| 2012 |
Mahmoudi H, Tug E, Parlak AH, Atasoy HI, Ludwig M, Polat M, Pasternack SM, Betz RC. Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair. Experimental Dermatology. 21: 469-71. PMID 22621192 DOI: 10.1111/j.1600-0625.2012.01504.x |
0.372 |
|
| 2012 |
Bartels E, Jenetzky E, Solomon BD, Ludwig M, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, et al. Inheritance of the VATER/VACTERL association. Pediatric Surgery International. 28: 681-5. PMID 22581124 DOI: 10.1007/s00383-012-3100-z |
0.323 |
|
| 2012 |
Spier I, Horpaopan S, Vogt S, Uhlhaas S, Morak M, Stienen D, Draaken M, Ludwig M, Holinski-Feder E, Nöthen MM, Hoffmann P, Aretz S. Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. Human Mutation. 33: 1045-50. PMID 22431159 DOI: 10.1002/humu.22082 |
0.346 |
|
| 2012 |
Hilger A, Schramm C, Draaken M, Mughal SS, Dworschak G, Bartels E, Hoffmann P, Nöthen MM, Reutter H, Ludwig M. Familial occurrence of the VATER/VACTERL association Pediatric Surgery International. 28: 725-729. PMID 22422375 DOI: 10.1007/s00383-012-3073-y |
0.302 |
|
| 2012 |
Bogdanovi? R, Kuburovi? V, Staji? N, Mughal SS, Hilger A, Nini? S, Priji? S, Ludwig M. Liddle syndrome in a Serbian family and literature review of underlying mutations European Journal of Pediatrics. 171: 471-478. PMID 21956615 DOI: 10.1007/s00431-011-1581-8 |
0.326 |
|
| 2011 |
Zur B, Ludwig M, Stoffel-Wagner B. Hemoglobin Hasharon and hemoglobin NYU in subjects of German origin. Biochemia Medica. 21: 321-5. PMID 22420247 DOI: 10.11613/Bm.2011.043 |
0.335 |
|
| 2011 |
Ludwig MZ, Manu, Kittler R, White KP, Kreitman M. Consequences of eukaryotic enhancer architecture for gene expression dynamics, development, and fitness. Plos Genetics. 7: e1002364. PMID 22102826 DOI: 10.1371/journal.pgen.1002364 |
0.664 |
|
| 2011 |
Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmüller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, et al. Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. American Journal of Human Genetics. 89: 668-74. PMID 22077972 DOI: 10.1016/j.ajhg.2011.10.007 |
0.309 |
|
| 2011 |
Refke M, Pasternack SM, Fiebig B, Wenzel S, Ishorst N, Ludwig M, Nöthen MM, Seyger MM, Hamel BC, Betz RC. Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay British Journal of Dermatology. 165: 1127-1132. PMID 21718278 DOI: 10.1111/J.1365-2133.2011.10495.X |
0.357 |
|
| 2011 |
Reutter H, Boyadjiev SA, Gambhir L, Ebert AK, Rösch WH, Stein R, Schröder A, Boemers TM, Bartels E, Vogt H, Utsch B, Müller M, Detlefsen B, Zwink N, Rogenhofer S, ... ... Ludwig M, et al. Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe. The Journal of Pediatrics. 159: 825-831.e1. PMID 21679965 DOI: 10.1016/j.jpeds.2011.04.042 |
0.305 |
|
| 2011 |
Qi L, Chen K, Hur DJ, Yagnik G, Lakshmanan Y, Kotch LE, Ashrafi GH, Martinez-Murillo F, Kowalski J, Naydenov C, Wittler L, Gearhart JP, Draaken M, Reutter H, Ludwig M, et al. Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex. International Journal of Molecular Medicine. 27: 755-65. PMID 21431277 DOI: 10.3892/Ijmm.2011.654 |
0.363 |
|
| 2011 |
Mühleisen TW, Basmanav FB, Forstner AJ, Mattheisen M, Priebe L, Herms S, Breuer R, Moebus S, Nenadic I, Sauer H, Mössner R, Maier W, Rujescu D, Ludwig M, Rietschel M, et al. Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. Schizophrenia Research. 127: 35-40. PMID 21288692 DOI: 10.1016/j.schres.2011.01.001 |
0.302 |
|
| 2011 |
Tasic V, Lozanovski VJ, Korneti P, Ristoska-Bojkovska N, Sabolic-Avramovska V, Gucev Z, Ludwig M. Clinical and laboratory features of Macedonian children with OCRL mutations. Pediatric Nephrology (Berlin, Germany). 26: 557-62. PMID 21249396 DOI: 10.1007/s00467-010-1758-9 |
0.317 |
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| 2011 |
Draaken M, Giesen CA, Kesselheim AL, Jabs R, Aretz S, Kugaudo M, Chrzanowska KH, Krajewska-Walasek M, Ludwig M. Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Human Genetics. 129: 513-9. PMID 21225285 DOI: 10.1007/s00439-010-0944-y |
0.334 |
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| 2011 |
Lott SE, Ludwig MZ, Kreitman M. Evolution and inheritance of early embryonic patterning in Drosophila simulans and D. sechellia. Evolution; International Journal of Organic Evolution. 65: 1388-99. PMID 21121913 DOI: 10.1111/j.1558-5646.2010.01206.x |
0.568 |
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| 2011 |
Bökenkamp A, Ludwig M. Disorders of the renal proximal tubule. Nephron. Physiology. 118: p1-6. PMID 21071982 DOI: 10.1159/000320880 |
0.311 |
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| 2011 |
Schramm C, Draaken M, Tewes G, Bartels E, Schmiedeke E, Märzheuser S, Grasshoff-Derr S, Hosie S, Holland-Cunz S, Priebe L, Kreiss-Nachtsheim M, Hoffmann P, Aretz S, Nöthen MM, Reutter H, ... Ludwig M, et al. Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature. European Journal of Pediatrics. 170: 741-6. PMID 21042811 DOI: 10.1007/s00431-010-1332-2 |
0.339 |
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| 2011 |
Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nöthen MM, Ludwig M, Reutter H. De novo microduplication at 22q11.21 in a patient with VACTERL association. European Journal of Medical Genetics. 54: 9-13. PMID 20849991 DOI: 10.1016/j.ejmg.2010.09.001 |
0.302 |
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| 2011 |
Miles CM, Lott SE, Hendriks CL, Ludwig MZ, Manu, Williams CL, Kreitman M. Artificial selection on egg size perturbs early pattern formation in Drosophila melanogaster. Evolution; International Journal of Organic Evolution. 65: 33-42. PMID 20636356 DOI: 10.1111/J.1558-5646.2010.01088.X |
0.529 |
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| 2010 |
Ching BJ, Wittler L, Proske J, Yagnik G, Qi L, Draaken M, Reutter H, Gearhart JP, Ludwig M, Boyadjiev SA. p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue. International Journal of Molecular Medicine. 26: 861-7. PMID 21042780 DOI: 10.3892/Ijmm_00000535 |
0.334 |
|
| 2010 |
Bogdanović R, Draaken M, Toromanović A, Dordević M, Stajić N, Ludwig M. A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatric Nephrology (Berlin, Germany). 25: 2363-8. PMID 20680351 DOI: 10.1007/s00467-010-1615-x |
0.347 |
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| 2010 |
Draaken M, Proske J, Schramm C, Wittler L, Bartels E, Nöthen MM, Reutter H, Ludwig M. Embryonic expression of the cysteine rich protein 61 (CYR61) gene: A candidate for the development of human epispadias. Birth Defects Research. Part a, Clinical and Molecular Teratology. 88: 546-50. PMID 20641097 DOI: 10.1002/bdra.20668 |
0.385 |
|
| 2010 |
Draaken M, Reutter H, Schramm C, Bartels E, Boemers TM, Ebert AK, Rösch W, Schröder A, Stein R, Moebus S, Stienen D, Hoffmann P, Nöthen MM, Ludwig M. Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. European Journal of Medical Genetics. 53: 55-60. PMID 20060941 DOI: 10.1016/j.ejmg.2009.12.005 |
0.306 |
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| 2010 |
Carl S, Ludwig M, Miles C, Bell G, Kreitman M. Naturally occurring genetic variation influences the severity of Drosphilia eye degeneration induced by expression of a mutant human insulin gene F1000research. 1. DOI: 10.7490/F1000Research.425.1 |
0.593 |
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| 2010 |
Rösch WH, Draaken M, Ludwig M, Reutter H, Schramm C, Bartels E, Boemers TM, Schröder A, Stein R, Nöthen MM, Ebert A. Microduplications At 22q11.21 are Associated with Classic Bladder Exstrophy Journal of Pediatric Urology. 6. DOI: 10.1016/J.Jpurol.2010.02.013 |
0.335 |
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| 2009 |
Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M. Dent-2 disease: a mild variant of Lowe syndrome. The Journal of Pediatrics. 155: 94-9. PMID 19559295 DOI: 10.1016/J.Jpeds.2009.01.049 |
0.322 |
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| 2009 |
Sethi SK, Ludwig M, Kabra M, Hari P, Bagga A. Vitamin A responsive night blindness in Dent's disease. Pediatric Nephrology (Berlin, Germany). 24: 1765-70. PMID 19444483 DOI: 10.1007/s00467-009-1198-6 |
0.319 |
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| 2009 |
Besbas N, Draaken M, Ludwig M, Deren O, Orhan D, Bilginer Y, Ozaltin F. A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis. European Journal of Pediatrics. 168: 1449-54. PMID 19238435 DOI: 10.1007/s00431-009-0945-9 |
0.37 |
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| 2009 |
Roth CL, Ludwig M, Woelfle J, Fan ZC, Brumm H, Biebermann H, Tao YX. A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity. Endocrine. 36: 52-9. PMID 19214805 DOI: 10.1007/s12020-009-9156-4 |
0.308 |
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| 2009 |
Liu J, Ghanim M, Xue L, Brown CD, Iossifov I, Angeletti C, Hua S, Nègre N, Ludwig M, Stricker T, Al-Ahmadie HA, Tretiakova M, Camp RL, Perera-Alberto M, Rimm DL, et al. Analysis of Drosophila segmentation network identifies a JNK pathway factor overexpressed in kidney cancer. Science (New York, N.Y.). 323: 1218-22. PMID 19164706 DOI: 10.1126/Science.1157669 |
0.48 |
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| 2009 |
Ludwig M, Ching B, Reutter H, Boyadjiev SA. Bladder exstrophy-epispadias complex. Birth Defects Research. Part a, Clinical and Molecular Teratology. 85: 509-22. PMID 19161161 DOI: 10.1002/bdra.20557 |
0.322 |
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| 2009 |
Draaken M, Reutter H, Boemers TM, Boyadjiev SA, Hoffmann P, Nöthen MM, Ludwig M. Chip-Based Genome-Wide Search for Micro-Aberrations in Patients with the Exstrophy-Epispadias Complex Journal of Pediatric Urology. 5. DOI: 10.1016/J.Jpurol.2009.02.074 |
0.381 |
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| 2009 |
Ludwig M, Reutter H, Rüschendorf F, Draaken M, Betz R, Hübner N, Saar K, Schäfer N, Stein R, Wolfenbüttel KP, Nöthen MM. Genome-Wide Linkage Scan in a Moroccan Family With Autosomal-Recessive Exstrophy of the Bladder Identifies a Novel Susceptibility Locus on Chromosome 3p25.3 Journal of Pediatric Urology. 5. DOI: 10.1016/J.Jpurol.2009.02.018 |
0.364 |
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| 2008 |
Pavićević S, Bogdanović R, Ludwig M, Samardzić M. [Dent's disease]. Srpski Arhiv Za Celokupno Lekarstvo. 136: 312-5. PMID 20804101 DOI: 10.2298/Sarh08S4312P |
0.33 |
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| 2008 |
Krüger V, Khoshvaghti M, Reutter H, Vogt H, Boemers TM, Ludwig M. Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca. Pediatric Surgery International. 24: 893-7. PMID 18587586 DOI: 10.1007/s00383-008-2193-x |
0.379 |
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| 2008 |
Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M. Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clinical Journal of the American Society of Nephrology : Cjasn. 3: 1430-6. PMID 18480301 DOI: 10.2215/CJN.00520108 |
0.335 |
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| 2007 |
Reutter H, Hoischen A, Ludwig M, Stein R, Radlwimmer B, Engels H, Wolffenbuttel KP, Weber RG. Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization. Bju International. 100: 646-50. PMID 17669146 DOI: 10.1111/j.1464-410X.2007.07086.x |
0.346 |
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| 2007 |
Lott SE, Kreitman M, Palsson A, Alekseeva E, Ludwig MZ. Canalization of segmentation and its evolution in Drosophila. Proceedings of the National Academy of Sciences of the United States of America. 104: 10926-31. PMID 17569783 DOI: 10.1073/pnas.0701359104 |
0.57 |
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| 2006 |
Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, ... ... Ludwig M, et al. Novel OCRL1 mutations in patients with the phenotype of Dent disease. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. 48: 942.e1-14. PMID 17162149 DOI: 10.1053/j.ajkd.2006.08.018 |
0.36 |
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| 2006 |
Simon M, Ludwig M, Fimmers R, Mahlberg R, Müller-Erkwoh A, Köster G, Schramm J. Variant of the CHEK2 gene as a prognostic marker in glioblastoma multiforme. Neurosurgery. 59: 1078-85; discussion . PMID 17016233 DOI: 10.1227/01.NEU.0000245590.08463.5B |
0.321 |
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| 2006 |
Reutter H, Thauvin-Robinet C, Boemers TM, Rösch WH, Ludwig M. Bladder exstrophy–epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Trithorax (SET) as a candidate gene in a large cohort of patients Scandinavian Journal of Urology and Nephrology. 40: 221-224. PMID 16809264 DOI: 10.1080/00365590600621204 |
0.352 |
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| 2006 |
Ludwig M, Utsch B, Balluch B, Fründ S, Kuwertz-Bröking E, Bökenkamp A. Hypercalciuria in patients with CLCN5 mutations Pediatric Nephrology. 21: 1241-1250. PMID 16807762 DOI: 10.1007/S00467-006-0172-9 |
0.33 |
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| 2006 |
Simon M, Franke D, Ludwig M, Aliashkevich AF, Köster G, Oldenburg J, Boström A, Ziegler A, Schramm J. Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system Journal of Neurosurgery. 104: 945-949. PMID 16776339 DOI: 10.3171/Jns.2006.104.6.945 |
0.356 |
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| 2005 |
Bökenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM, Ludwig M. R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. Pediatric Nephrology (Berlin, Germany). 20: 1724-8. PMID 16237566 DOI: 10.1007/s00467-005-2047-x |
0.375 |
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| 2005 |
Ludwig M, Doroszewicz J, Seyberth HW, Bökenkamp A, Balluch B, Nuutinen M, Utsch B, Waldegger S. Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. Human Genetics. 117: 228-37. PMID 15895257 DOI: 10.1007/s00439-005-1303-2 |
0.325 |
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| 2005 |
Besbas N, Ozaltin F, Jeck N, Seyberth H, Ludwig M. CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease Nephrology Dialysis Transplantation. 20: 1476-1479. PMID 15814539 DOI: 10.1093/Ndt/Gfh799 |
0.333 |
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| 2005 |
Ludwig MZ, Palsson A, Alekseeva E, Bergman CM, Nathan J, Kreitman M. Functional evolution of a cis-regulatory module. Plos Biology. 3: e93. PMID 15757364 DOI: 10.1371/journal.pbio.0030093 |
0.659 |
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| 2005 |
Roth C, Brezinski S, Harz K, Woelfle J, Ludwig M. Investigations of melanocortin-receptor genes in patients with severe childhood obesity Experimental and Clinical Endocrinology & Diabetes. 113: 2. DOI: 10.1055/S-2005-862861 |
0.312 |
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| 2004 |
Ludwig M, Bidlingmaier F, Reissinger A. Pseudohypoaldosteronism type 1 and the genes encoding prostasin, α-spectrin, and Nedd4 International Journal of Molecular Medicine. 14: 1101-1104. DOI: 10.3892/Ijmm.14.6.1101 |
0.362 |
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| 2003 |
Utsch B, Kaya A, Ozburun A, Lentze MJ, Albers N, Ludwig M. Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias. Scandinavian Journal of Urology and Nephrology. 37: 498-501. PMID 14675924 DOI: 10.1080/00365590310014517 |
0.358 |
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| 2003 |
Edwards RG, Ludwig M. Are major defects in children conceived in vitro due to innate problems in patients or to induced genetic damage? Reproductive Biomedicine Online. 7: 131-8. PMID 14567877 DOI: 10.1016/S1472-6483(10)61742-7 |
0.33 |
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| 2003 |
Ludwig M, Waldegger S, Nuutinen M, Bökenkamp A, Reissinger A, Steckelbroeck S, Utsch B. Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant. Kidney & Blood Pressure Research. 26: 176-84. PMID 12886045 DOI: 10.1159/000071883 |
0.36 |
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| 2003 |
Lohmann PL, Bagli M, Krauss H, Müller DJ, Schulze TG, Fangerau H, Ludwig M, Barkow K, Held T, Heun R, Maier W, Rietschel M, Rao ML. CYP2D6 polymorphism and tardive dyskinesia in schizophrenic patients Pharmacopsychiatry. 36: 73-78. PMID 12734765 DOI: 10.1055/s-2003-39048 |
0.316 |
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| 2003 |
Riepe FG, Krone N, Morlot M, Ludwig M, Sippell WG, Partsch C. Identification of a Novel Mutation in the Human Mineralocorticoid Receptor Gene in a German Family with Autosomal-Dominant Pseudohypoaldosteronism Type 1: Further Evidence for Marked Interindividual Clinical Heterogeneity The Journal of Clinical Endocrinology and Metabolism. 88: 1683-1686. PMID 12679457 DOI: 10.1210/Jc.2002-021556 |
0.354 |
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| 2002 |
Reissinger A, Ludwig M, Utsch B, Prömse A, Baulmann J, Weisser B, Vetter H, Kramer HJ, Bokemeyer D. Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney & Blood Pressure Research. 25: 354-362. PMID 12590198 DOI: 10.1159/000068695 |
0.329 |
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| 2002 |
Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M. A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? Human Genetics. 110: 488-494. PMID 12073020 DOI: 10.1007/S00439-002-0712-8 |
0.387 |
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| 2001 |
Utsch B, Albers N, Dame C, Bartmann P, Lentze MJ, Ludwig M. Homozygous α‐thalassemia associated with hypospadias: SEA‐type deletion does not affect expression of the ‐14 gene and loss of the θ1‐globin gene on 16p13.3 is compensated by its duplicate θ2 on chromosome 10 American Journal of Medical Genetics. 101: 286-287. PMID 11424149 DOI: 10.1002/Ajmg.1344 |
0.329 |
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| 2001 |
Leuer M, Oldenburg J, Lavergne J, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek K. Somatic Mosaicism in Hemophilia A: A Fairly Common Event American Journal of Human Genetics. 69: 75-87. PMID 11410838 DOI: 10.1086/321285 |
0.328 |
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| 2000 |
Ludwig MZ, Bergman C, Patel NH, Kreitman M. Evidence for stabilizing selection in a eukaryotic enhancer element. Nature. 403: 564-7. PMID 10676967 DOI: 10.1038/35000615 |
0.677 |
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| 1999 |
Wichers M, Köhler W, Brennemann W, Boese V, Sokolowski P, Bidlingmaier F, Ludwig M. X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset. Human Genetics. 105: 116-9. PMID 10480364 DOI: 10.1007/S004399900090 |
0.37 |
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| 1998 |
Ludwig M, Bolkenius U, Wickert L, Marynen P, Bidlingmaier F. Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channel Human Genetics. 102: 576-581. PMID 9654208 DOI: 10.1007/S004390050743 |
0.333 |
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| 1998 |
Ludwig M, Bolkenius U, Wickert L, Bidlingmaier F. Common polymorphisms in genes encoding the human mineralocorticoid receptor and the human amiloride-sensitive sodium channel The Journal of Steroid Biochemistry and Molecular Biology. 64: 227-230. PMID 9618022 DOI: 10.1016/S0960-0760(97)00195-7 |
0.302 |
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| 1998 |
Ludwig MZ, Patel NH, Kreitman M. Functional analysis of eve stripe 2 enhancer evolution in Drosophila: rules governing conservation and change. Development (Cambridge, England). 125: 949-58. PMID 9449677 |
0.57 |
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| 1998 |
Giannelli F, Green PM, Sommer SS, Poon M, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, Figueiredo MS, Brownlee GG. Haemophilia B: database of point mutations and short additions and deletions--eighth edition. Nucleic Acids Research. 26: 265-8. PMID 9399849 DOI: 10.1093/Nar/26.1.265 |
0.317 |
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| 1997 |
Giannelli F, Green PM, Sommer SS, Poon MC, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, Figueiredo MS, Brownlee GG. Haemophilia B: database of point mutations and short additions and deletions, 7th edition. Nucleic Acids Research. 25: 133-5. PMID 9016521 DOI: 10.1093/Nar/25.1.133 |
0.315 |
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| 1996 |
Giannelli F, Green PM, Sommer SS, Poon MC, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, Brownlee GG. Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Research. 24: 103-18. PMID 8594556 DOI: 10.1093/Nar/24.1.103 |
0.315 |
|
| 1996 |
Kreitman M, Ludwig M. Tempo and mode of even-skipped stripe 2 enhancer evolution in Drosophila Seminars in Cell and Developmental Biology. 7: 583-592. DOI: 10.1006/scdb.1996.0072 |
0.61 |
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| 1995 |
Ludwig MZ, Kreitman M. Evolutionary dynamics of the enhancer region of even-skipped in Drosophila. Molecular Biology and Evolution. 12: 1002-11. PMID 8524036 DOI: 10.1093/Oxfordjournals.Molbev.A040277 |
0.567 |
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| 1993 |
Knobloch O, Zoll B, Zerres K, Brackmann HH, Olek K, Ludwig M. Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations. Human Genetics. 92: 40-48. PMID 8365725 DOI: 10.1007/Bf00216143 |
0.364 |
|
| 1992 |
Crossley M, Ludwig M, Stowell KM, De Vos P, Olek K, Brownlee GG. Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter. Science (New York, N.Y.). 257: 377-9. PMID 1631558 DOI: 10.1126/Science.1631558 |
0.306 |
|
| 1992 |
Ludwig M, Wohn KD, Schleuning WD, Olek K. Allelic dimorphism in the human tissue-type plasminogen activator (TPA) gene as a result of an Alu insertion/deletion event Human Genetics. 88: 388-392. PMID 1346771 DOI: 10.1007/Bf00215671 |
0.34 |
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| 1992 |
Ludwig M, Sabharwal A, Brackmann H, Olek K, Smith K, Birktoft J, Bajaj S. Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. Blood. 79: 1225-1232. DOI: 10.1182/Blood.V79.5.1225.Bloodjournal7951225 |
0.313 |
|
| 1991 |
Schwaab R, Ludwig M, Kochhan L, Oldenburg J, McVey JH, Egli H, Brackmann HH, Olek K. Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain. Thrombosis Research. 61: 225-234. PMID 1851341 DOI: 10.1016/0049-3848(91)90098-H |
0.313 |
|
| 1991 |
Gal A, Artlich A, Ludwig M, Niemeyer G, Olek K, Schwinger E, Schinzel A. Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics. 11: 468-70. PMID 1840561 DOI: 10.1016/0888-7543(91)90159-C |
0.353 |
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| 1991 |
Ludwig M, Brackmann HH, Olek K. Prenatal diagnosis of haemophilia B by the use of polymerase chain reaction and direct sequencing. Journal of Molecular Medicine. 69: 196-200. PMID 1674559 DOI: 10.1007/Bf01646940 |
0.313 |
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