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5. 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 Am J Hum Genet; 2020 Oct; 107(4):727-742. PubMed ID: 32891193 [TBL] [Abstract][Full Text] [Related]
6. Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations. Chatterjee R; Ramos E; Hoffman M; VanWinkle J; Martin DR; Davis TK; Hoshi M; Hmiel SP; Beck A; Hruska K; Coplen D; Liapis H; Mitra R; Druley T; Austin P; Jain S Hum Genet; 2012 Nov; 131(11):1725-38. PubMed ID: 22729463 [TBL] [Abstract][Full Text] [Related]
7. Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis. Vidic C; Zaniew M; Jurga S; Thiele H; Reutter H; Hilger AC Mol Cell Pediatr; 2021 Oct; 8(1):13. PubMed ID: 34608560 [TBL] [Abstract][Full Text] [Related]
8. Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations. Kosfeld A; Brand F; Weiss AC; Kreuzer M; Goerk M; Martens H; Schubert S; Schäfer AK; Riehmer V; Hennies I; Bräsen JH; Pape L; Amann K; Krogvold L; Bjerre A; Daniel C; Kispert A; Haffner D; Weber RG Hum Mol Genet; 2017 May; 26(9):1716-1731. PubMed ID: 28334964 [TBL] [Abstract][Full Text] [Related]
9. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Sanna-Cherchi S; Khan K; Westland R; Krithivasan P; Fievet L; Rasouly HM; Ionita-Laza I; Capone VP; Fasel DA; Kiryluk K; Kamalakaran S; Bodria M; Otto EA; Sampson MG; Gillies CE; Vega-Warner V; Vukojevic K; Pediaditakis I; Makar GS; Mitrotti A; Verbitsky M; Martino J; Liu Q; Na YJ; Goj V; Ardissino G; Gigante M; Gesualdo L; Janezcko M; Zaniew M; Mendelsohn CL; Shril S; Hildebrandt F; van Wijk JAE; Arapovic A; Saraga M; Allegri L; Izzi C; Scolari F; Tasic V; Ghiggeri GM; Latos-Bielenska A; Materna-Kiryluk A; Mane S; Goldstein DB; Lifton RP; Katsanis N; Davis EE; Gharavi AG Am J Hum Genet; 2017 Nov; 101(5):789-802. PubMed ID: 29100090 [TBL] [Abstract][Full Text] [Related]
10. Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway. Sun X; Zhou Y; Zhang R; Wang Z; Xu M; Zhang D; Huang J; Luo F; Li F; Ni Z; Zhou S; Chen H; Chen S; Chen L; Du X; Chen B; Huang H; Liu P; Yin L; Qiu J; Chen D; Deng C; Xie Y; Luo L; Chen L Nat Commun; 2020 Jan; 11(1):479. PubMed ID: 31980602 [TBL] [Abstract][Full Text] [Related]
11. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. De Tomasi L; David P; Humbert C; Silbermann F; Arrondel C; Tores F; Fouquet S; Desgrange A; Niel O; Bole-Feysot C; Nitschké P; Roume J; Cordier MP; Pietrement C; Isidor B; Khau Van Kien P; Gonzales M; Saint-Frison MH; Martinovic J; Novo R; Piard J; Cabrol C; Verma IC; Puri R; Journel H; Aziza J; Gavard L; Said-Menthon MH; Heidet L; Saunier S; Jeanpierre C Am J Hum Genet; 2017 Nov; 101(5):803-814. PubMed ID: 29100091 [TBL] [Abstract][Full Text] [Related]
12. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). Kosfeld A; Kreuzer M; Daniel C; Brand F; Schäfer AK; Chadt A; Weiss AC; Riehmer V; Jeanpierre C; Klintschar M; Bräsen JH; Amann K; Pape L; Kispert A; Al-Hasani H; Haffner D; Weber RG Hum Genet; 2016 Jan; 135(1):69-87. PubMed ID: 26572137 [TBL] [Abstract][Full Text] [Related]
13. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. Lopez-Rivera E; Liu YP; Verbitsky M; Anderson BR; Capone VP; Otto EA; Yan Z; Mitrotti A; Martino J; Steers NJ; Fasel DA; Vukojevic K; Deng R; Racedo SE; Liu Q; Werth M; Westland R; Vivante A; Makar GS; Bodria M; Sampson MG; Gillies CE; Vega-Warner V; Maiorana M; Petrey DS; Honig B; Lozanovski VJ; Salomon R; Heidet L; Carpentier W; Gaillard D; Carrea A; Gesualdo L; Cusi D; Izzi C; Scolari F; van Wijk JA; Arapovic A; Saraga-Babic M; Saraga M; Kunac N; Samii A; McDonald-McGinn DM; Crowley TB; Zackai EH; Drozdz D; Miklaszewska M; Tkaczyk M; Sikora P; Szczepanska M; Mizerska-Wasiak M; Krzemien G; Szmigielska A; Zaniew M; Darlow JM; Puri P; Barton D; Casolari E; Furth SL; Warady BA; Gucev Z; Hakonarson H; Flogelova H; Tasic V; Latos-Bielenska A; Materna-Kiryluk A; Allegri L; Wong CS; Drummond IA; D'Agati V; Imamoto A; Barasch JM; Hildebrandt F; Kiryluk K; Lifton RP; Morrow BE; Jeanpierre C; Papaioannou VE; Ghiggeri GM; Gharavi AG; Katsanis N; Sanna-Cherchi S N Engl J Med; 2017 Feb; 376(8):742-754. PubMed ID: 28121514 [TBL] [Abstract][Full Text] [Related]
15. Inflammation-like changes in the urothelium of Lifr-deficient mice and LIFR-haploinsufficient humans with urinary tract anomalies. Christians A; Weiss AC; Martens H; Klopf MG; Hennies I; Haffner D; Kispert A; Weber RG Hum Mol Genet; 2020 May; 29(7):1192-1204. PubMed ID: 32179912 [TBL] [Abstract][Full Text] [Related]
16. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Mann N; Kause F; Henze EK; Gharpure A; Shril S; Connaughton DM; Nakayama M; Klämbt V; Majmundar AJ; Wu CW; Kolvenbach CM; Dai R; Chen J; van der Ven AT; Ityel H; Tooley MJ; Kari JA; Bownass L; El Desoky S; De Franco E; Shalaby M; Tasic V; Bauer SB; Lee RS; Beckel JM; Yu W; Mane SM; Lifton RP; Reutter H; Ellard S; Hibbs RE; Kawate T; Hildebrandt F Am J Hum Genet; 2019 Dec; 105(6):1286-1293. PubMed ID: 31708116 [TBL] [Abstract][Full Text] [Related]
17. DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Blackburn ATM; Bekheirnia N; Uma VC; Corkins ME; Xu Y; Rosenfeld JA; Bainbridge MN; Yang Y; Liu P; Madan-Khetarpal S; Delgado MR; Hudgins L; Krantz I; Rodriguez-Buritica D; Wheeler PG; Al-Gazali L; Mohamed Saeed Mohamed Al Shamsi A; Gomez-Ospina N; Chao HT; Mirzaa GM; Scheuerle AE; Kukolich MK; Scaglia F; Eng C; Willsey HR; Braun MC; Lamb DJ; Miller RK; Bekheirnia MR Genet Med; 2019 Dec; 21(12):2755-2764. PubMed ID: 31263215 [TBL] [Abstract][Full Text] [Related]
18. Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis. Wu H; Xu Q; Xie J; Ma J; Qiao P; Zhang W; Yu H; Wang W; Qian Y; Zhang Q; Guo Y; Tang Y; Chen XN; Wang Z; Chen N Am J Nephrol; 2017; 46(1):55-63. PubMed ID: 28618409 [TBL] [Abstract][Full Text] [Related]
19. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. Vivante A; Kleppa MJ; Schulz J; Kohl S; Sharma A; Chen J; Shril S; Hwang DY; Weiss AC; Kaminski MM; Shukrun R; Kemper MJ; Lehnhardt A; Beetz R; Sanna-Cherchi S; Verbitsky M; Gharavi AG; Stuart HM; Feather SA; Goodship JA; Goodship TH; Woolf AS; Westra SJ; Doody DP; Bauer SB; Lee RS; Adam RM; Lu W; Reutter HM; Kehinde EO; Mancini EJ; Lifton RP; Tasic V; Lienkamp SS; Jüppner H; Kispert A; Hildebrandt F Am J Hum Genet; 2015 Aug; 97(2):291-301. PubMed ID: 26235987 [TBL] [Abstract][Full Text] [Related]
20. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Norton N; Li D; Rieder MJ; Siegfried JD; Rampersaud E; Züchner S; Mangos S; Gonzalez-Quintana J; Wang L; McGee S; Reiser J; Martin E; Nickerson DA; Hershberger RE Am J Hum Genet; 2011 Mar; 88(3):273-82. PubMed ID: 21353195 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]