BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

430 related articles for article (PubMed ID: 29100091)

  • 1. 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]  

  • 2. 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]  

  • 3. A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.
    Brophy PD; Rasmussen M; Parida M; Bonde G; Darbro BW; Hong X; Clarke JC; Peterson KA; Denegre J; Schneider M; Sussman CR; Sunde L; Lildballe DL; Hertz JM; Cornell RA; Murray SA; Manak JR
    Genetics; 2017 Sep; 207(1):215-228. PubMed ID: 28739660
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical Exome Sequencing Identifies a Novel Mutation of the
    Wang A; Ji B; Wu F; Zhao X
    Genet Test Mol Biomarkers; 2020 Aug; 24(8):520-526. PubMed ID: 32598191
    [No Abstract]   [Full Text] [Related]  

  • 5. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
    Boissel S; Fallet-Bianco C; Chitayat D; Kremer V; Nassif C; Rypens F; Delrue MA; Dal Soglio D; Oligny LL; Patey N; Flori E; Cloutier M; Dyment D; Campeau P; Karalis A; Nizard S; Fraser WD; Audibert F; Lemyre E; Rouleau GA; Hamdan FF; Kibar Z; Michaud JL
    Genet Med; 2018 Jul; 20(7):745-753. PubMed ID: 29261186
    [TBL] [Abstract][Full Text] [Related]  

  • 6. GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.
    Jacquinet A; Boujemla B; Fasquelle C; Thiry J; Josse C; Lumaka A; Brischoux-Boucher E; Dubourg C; David V; Pasquier L; Lehman A; Morcel K; Guerrier D; Bours V
    Clin Genet; 2020 Aug; 98(2):126-137. PubMed ID: 32378186
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
    Kohl S; Hwang DY; Dworschak GC; Hilger AC; Saisawat P; Vivante A; Stajic N; Bogdanovic R; Reutter HM; Kehinde EO; Tasic V; Hildebrandt F
    J Am Soc Nephrol; 2014 Sep; 25(9):1917-22. PubMed ID: 24700879
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
    Humbert C; Silbermann F; Morar B; Parisot M; Zarhrate M; Masson C; Tores F; Blanchet P; Perez MJ; Petrov Y; Khau Van Kien P; Roume J; Leroy B; Gribouval O; Kalaydjieva L; Heidet L; Salomon R; Antignac C; Benmerah A; Saunier S; Jeanpierre C
    Am J Hum Genet; 2014 Feb; 94(2):288-94. PubMed ID: 24439109
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
    Lemire G; Zheng B; Ediae GU; Zou R; Bhola PT; Chisholm C; de Nanassy J; Lo B; Wang C; Shril S; El Desoky S; Shalaby M; Kari JA; Wang X; ; Kernohan KD; Boycott KM; Hildebrandt F; Sawyer SL
    Am J Med Genet A; 2021 Oct; 185(10):3005-3011. PubMed ID: 34145744
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Biallelic Pathogenic
    Arora V; Khan S; El-Hattab AW; Dua Puri R; Rocha ME; Merdzanic R; Paknia O; Beetz C; Rolfs A; Bertoli-Avella AM; Bauer P; Verma IC
    J Am Soc Nephrol; 2021 Jan; 32(1):223-228. PubMed ID: 33020172
    [TBL] [Abstract][Full Text] [Related]  

  • 11. GREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome.
    Kyei Barffour I; Kyei Baah Kwarkoh R
    Eur J Med Genet; 2021 Mar; 64(3):104158. PubMed ID: 33548512
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
    Riedhammer KM; Nguyen TT; Koşukcu C; Calzada-Wack J; Li Y; Assia Batzir N; Saygılı S; Wimmers V; Kim GJ; Chrysanthou M; Bakey Z; Sofrin-Drucker E; Kraiger M; Sanz-Moreno A; Amarie OV; Rathkolb B; Klein-Rodewald T; Garrett L; Hölter SM; Seisenberger C; Haug S; Schlosser P; Marschall S; Wurst W; Fuchs H; Gailus-Durner V; Wuttke M; Hrabe de Angelis M; Ćomić J; Akgün Doğan Ö; Özlük Y; Taşdemir M; Ağbaş A; Canpolat N; Orenstein N; Çalışkan S; Weber RG; Bergmann C; Jeanpierre C; Saunier S; Lim TY; Hildebrandt F; Alhaddad B; Basel-Salmon L; Borovitz Y; Wu K; Antony D; Matschkal J; Schaaf CW; Renders L; Schmaderer C; Rogg M; Schell C; Meitinger T; Heemann U; Köttgen A; Arnold SJ; Ozaltin F; Schmidts M; Hoefele J
    Kidney Int; 2024 Apr; 105(4):844-864. PubMed ID: 38154558
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.
    Rasmussen M; Sunde L; Nielsen ML; Ramsing M; Petersen A; Hjortshøj TD; Olsen TE; Tabor A; Hertz JM; Johnsen I; Sperling L; Petersen OB; Jensen UB; Møller FG; Petersen MB; Lildballe DL
    Clin Genet; 2018 Apr; 93(4):860-869. PubMed ID: 29194579
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.
    Zhao E; Bomback M; Khan A; Krishna Murthy S; Solowiejczyk D; Vora NL; Gilmore KL; Giordano JL; Wapner RJ; Sanna-Cherchi S; Lyford A; Jelin AC; Gharavi AG; Hays T
    Prenat Diagn; 2024 Mar; 44(3):343-351. PubMed ID: 38285371
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.
    Al-Hamed MH; Sayer JA; Alsahan N; Tulbah M; Kurdi W; Ambusaidi Q; Ali W; Imtiaz F
    J Nephrol; 2021 Jun; 34(3):893-900. PubMed ID: 32643034
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.
    Kohl S; Chen J; Vivante A; Hwang DY; Shril S; Dworschak GC; Van Der Ven A; Sanna-Cherchi S; Bauer SB; Lee RS; Soliman NA; Kehinde EO; Reutter HM; Tasic V; Hildebrandt F
    Nephrol Dial Transplant; 2016 Aug; 31(8):1280-3. PubMed ID: 26908769
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis.
    Al-Shamsi B; Al-Kasbi G; Al-Kindi A; Bruwer Z; Al-Kharusi K; Al-Maawali A
    Eur J Med Genet; 2022 Jan; 65(1):104376. PubMed ID: 34737117
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.