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Year Number of Results
2017 1
2018 1
2019 1
2020 4
2021 5
2022 7
2023 3
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17 results

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Page 1
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F. Connaughton DM, et al. Among authors: eid la. Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4. Am J Hum Genet. 2020. PMID: 32891193 Free PMC article.
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. van der Ven AT, et al. Among authors: eid la. J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24. J Am Soc Nephrol. 2018. PMID: 30143558 Free PMC article.
Recessive CHRM5 variant as a potential cause of neurogenic bladder.
Schneider S, Schierbaum L, Burger WAC, Seltzsam S, Wang C, Zheng B, Wu CW, Nakayama M, Connaughton DM, Mann N, Shalaby MA, Kari JA, ElDesoky S, Tasic V, Eid LA, Shril S, Thal DM, Hildebrandt F. Schneider S, et al. Among authors: eid la. Am J Med Genet A. 2023 Aug;191(8):2083-2091. doi: 10.1002/ajmg.a.63241. Epub 2023 May 22. Am J Med Genet A. 2023. PMID: 37213061
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton DM, Wu CW, Schneider S, Schierbaum L, Kause F, Kolvenbach CM, Nakayama M, Dai R, Ottlewski I, Schneider R, Deutsch K, Buerger F, Klämbt V, Mao Y, Onuchic-Whitford AC, Nicolas-Frank C, Yousef K, Pantel D, Lai EW, Salmanullah D, Majmundar AJ, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Tasic V, Awad HS, Eid LA, El Desoky S, Shalaby M, Kari JA, Fathy HM, Soliman NA, Mane SM, Shril S, Ferguson MA, Hildebrandt F. Seltzsam S, et al. Among authors: eid la. Genet Med. 2022 Feb;24(2):307-318. doi: 10.1016/j.gim.2021.09.010. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906515 Free PMC article.
Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.
Ajiri R, Burgmaier K, Akinci N, Broekaert I, Büscher A, Dursun I, Duzova A, Eid LA, Fila M, Gessner M, Gokce I, Massella L, Mastrangelo A, Miklaszewska M, Prikhodina L, Ranchin B, Ranguelov N, Rus R, Sever L, Thumfart J, Weber LT, Wühl E, Yilmaz A, Dötsch J, Schaefer F, Liebau MC. Ajiri R, et al. Among authors: eid la. Kidney Int Rep. 2022 May 4;7(7):1643-1652. doi: 10.1016/j.ekir.2022.04.095. eCollection 2022 Jul. Kidney Int Rep. 2022. PMID: 35812281 Free PMC article.
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Wang C, Seltzsam S, Zheng B, Wu CW, Nicolas-Frank C, Yousef K, Au KS, Mann N, Pantel D, Schneider S, Schierbaum L, Kitzler TM, Connaughton DM, Mao Y, Dai R, Nakayama M, Kari JA, El Desoky S, Shalaby M, Eid LA, Awad HS, Tasic V, Mane SM, Lifton RP, Baum MA, Shril S, Estrada CR, Hildebrandt F. Wang C, et al. Among authors: eid la. Am J Med Genet A. 2022 May;188(5):1355-1367. doi: 10.1002/ajmg.a.62644. Epub 2022 Jan 18. Am J Med Genet A. 2022. PMID: 35040250 Free PMC article.
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD.
Burgmaier K, Kilian S, Arbeiter K, Atmis B, Büscher A, Derichs U, Dursun I, Duzova A, Eid LA, Galiano M, Gessner M, Gokce I, Haeffner K, Hooman N, Jankauskiene A, Körber F, Longo G, Massella L, Mekahli D, Miloševski-Lomić G, Nalcacioglu H, Rus R, Shroff R, Stabouli S, Weber LT, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Dötsch J, Schaefer F, Liebau MC; ARegPKD Consortium. Burgmaier K, et al. Among authors: eid la. Sci Rep. 2021 Nov 4;11(1):21677. doi: 10.1038/s41598-021-00523-z. Sci Rep. 2021. PMID: 34737334 Free PMC article.
Clinical Factors and Adverse Kidney Outcomes in Children With Antineutrophil Cytoplasmic Antibody-Associated Glomerulonephritis.
Marlais M, Wlodkowski T, Printza N, Kronsteiner D, Krisam R, Sauer L, Aksenova M, Ashoor I, Awan A, Bacchetta J, Balasubramanian R, Basu B, Bekassy Z, Boyer O, Chan EY, Csaicsich D, Decramer S, Dorresteijn E, Drozynska-Duklas M, Eid LA, Espinosa L, Ferraris V, Flögelová H, Forero-Delgadillo J, Gianviti A, Gracchi V, González ML, Hansen M, Hattori M, Hong X, Hooman N, Ivanov D, Kang HG, Karava V, Kazyra I, Lungu A, Marks S, Maxted A, Moczulska A, Müller R, Nastausheva T, Parolin M, Pecoraro C, Principi I, Sanchez-Kazi C, Saygili S, Schild R, Shenoy M, Sinha R, Spizzirri AP, Stack M, Szczepanska M, Tsygin A, Tzeng J, Urbonas V, Zapata C, Zieg J, Schaefer F, Vivarelli M, Tullus K. Marlais M, et al. Among authors: eid la. Am J Kidney Dis. 2023 Jan;81(1):119-122. doi: 10.1053/j.ajkd.2022.05.013. Epub 2022 Jul 8. Am J Kidney Dis. 2023. PMID: 35810826 No abstract available.
17 results