BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 32475988)

  • 1. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
    Wu CW; Mann N; Nakayama M; Connaughton DM; Dai R; Kolvenbach CM; Kause F; Ottlewski I; Wang C; Klämbt V; Seltzsam S; Lai EW; Selvin A; Senguttuva P; Bodamer O; Stein DR; El Desoky S; Kari JA; Tasic V; Bauer SB; Shril S; Hildebrandt F
    Genet Med; 2020 Oct; 22(10):1673-1681. PubMed ID: 32475988
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
    Zhou L; Wang X; An J; Zhang Y; He M; Tang L
    Exp Eye Res; 2023 Jan; 226():109307. PubMed ID: 36442680
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.
    Hernández-Martínez N; González-Del Angel A; Alcántara-Ortigoza MA; González-Huerta LM; Cuevas-Covarrubias SA; Villanueva-Mendoza C
    Ophthalmic Genet; 2018 Dec; 39(6):728-734. PubMed ID: 30457409
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.
    Narikot A; Pardeshi VC; Shubha AM; Iyengar A; Vasudevan A
    BMC Nephrol; 2022 Jan; 23(1):1. PubMed ID: 34979951
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
    Zheng B; Seltzsam S; Wang C; Schierbaum L; Schneider S; Wu CW; Dai R; Connaughton DM; Nakayama M; Mann N; Stajic N; Mane S; Bauer SB; Tasic V; Nam HJ; Shril S; Hildebrandt F
    Nephrol Dial Transplant; 2022 Sep; 37(10):1833-1843. PubMed ID: 34473308
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
    Micheal S; Siddiqui SN; Zafar SN; Villanueva-Mendoza C; Cortés-González V; Khan MI; den Hollander AI
    PLoS One; 2016; 11(7):e0160016. PubMed ID: 27463523
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.
    Seifi M; Footz T; Taylor SA; Walter MA
    Hum Mutat; 2017 Feb; 38(2):169-179. PubMed ID: 27804176
    [TBL] [Abstract][Full Text] [Related]  

  • 9. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
    Kitzler TM; Schneider R; Kohl S; Kolvenbach CM; Connaughton DM; Dai R; Mann N; Nakayama M; Majmundar AJ; Wu CW; Kari JA; El Desoky SM; Senguttuvan P; Bogdanovic R; Stajic N; Valivullah Z; Lek M; Mane S; Lifton RP; Tasic V; Shril S; Hildebrandt F
    Hum Genet; 2019 Oct; 138(10):1105-1115. PubMed ID: 31230195
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome.
    Ferre-Fernández JJ; Sorokina EA; Thompson S; Collery RF; Nordquist E; Lincoln J; Semina EV
    Hum Mol Genet; 2020 Sep; 29(16):2723-2735. PubMed ID: 32720677
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.
    Ahmed MR; Sethna S; Krueger LA; Yang MB; Hufnagel RB
    Genes (Basel); 2022 Feb; 13(3):. PubMed ID: 35327965
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
    Panicker SG; Sampath S; Mandal AK; Reddy AB; Ahmed N; Hasnain SE
    Invest Ophthalmol Vis Sci; 2002 Dec; 43(12):3613-6. PubMed ID: 12454026
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
    Kolvenbach CM; Zheng B; Merz LM; Mertens ND; Mansour B; Wang C; Seltzsam S; Schneider S; Schierbaum L; Pantel D; Chen J; van der Ven AT; Bello JO; Shril S; Hildebrandt F
    Am J Med Genet A; 2023 May; 191(5):1355-1359. PubMed ID: 36694287
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    Genet Med; 2022 Feb; 24(2):307-318. PubMed ID: 34906515
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
    Zheng B; Wang C; Seltzsam S; Schneider S; Schierbaum L; Wu W; Dai R; Connaughton DM; Nakayama M; Mann N; Bauer SB; Awad HS; Eid LA; Tasic V; Shril S; Hildebrandt F
    Am J Med Genet A; 2022 Jan; 188(1):310-313. PubMed ID: 34525250
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.
    Wu CW; Lim TY; Wang C; Seltzsam S; Zheng B; Schierbaum L; Schneider S; Mann N; Connaughton DM; Nakayama M; van der Ven AT; Dai R; Kolvenbach CM; Kause F; Ottlewski I; Stajic N; Soliman NA; Kari JA; El Desoky S; Fathy HM; Milosevic D; Turudic D; Al Saffar M; Awad HS; Eid LA; Ramanathan A; Senguttuvan P; Mane SM; Lee RS; Bauer SB; Lu W; Hilger AC; Tasic V; Shril S; Sanna-Cherchi S; Hildebrandt F
    Eur Urol Open Sci; 2022 Oct; 44():106-112. PubMed ID: 36185583
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.
    Li K; Tang M; Xu M; Yu Y
    BMC Med Genomics; 2021 Oct; 14(1):255. PubMed ID: 34715865
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification and functional study of FOXC1 variants in Chinese families with glaucoma.
    Wang X; Liu X; Li Y; Yang B; Sun X; Yang P; Zhong Z; Chen J
    Am J Med Genet A; 2022 Feb; 188(2):540-547. PubMed ID: 34741396
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    J Am Soc Nephrol; 2018 Sep; 29(9):2348-2361. PubMed ID: 30143558
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.