214 related articles for article (PubMed ID: 31263215)
1. 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]
2. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
Ji J; Lee H; Argiropoulos B; Dorrani N; Mann J; Martinez-Agosto JA; Gomez-Ospina N; Gallant N; Bernstein JA; Hudgins L; Slattery L; Isidor B; Le Caignec C; David A; Obersztyn E; Wiśniowiecka-Kowalnik B; Fox M; Deignan JL; Vilain E; Hendricks E; Horton Harr M; Noon SE; Jackson JR; Wilkens A; Mirzaa G; Salamon N; Abramson J; Zackai EH; Krantz I; Innes AM; Nelson SF; Grody WW; Quintero-Rivera F
Eur J Hum Genet; 2015 Nov; 23(11):1473-81. PubMed ID: 25944381
[TBL] [Abstract][Full Text] [Related]
3. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Bekheirnia MR; Bekheirnia N; Bainbridge MN; Gu S; Coban Akdemir ZH; Gambin T; Janzen NK; Jhangiani SN; Muzny DM; Michael M; Brewer ED; Elenberg E; Kale AS; Riley AA; Swartz SJ; Scott DA; Yang Y; Srivaths PR; Wenderfer SE; Bodurtha J; Applegate CD; Velinov M; Myers A; Borovik L; Craigen WJ; Hanchard NA; Rosenfeld JA; Lewis RA; Gonzales ET; Gibbs RA; Belmont JW; Roth DR; Eng C; Braun MC; Lupski JR; Lamb DJ
Genet Med; 2017 Apr; 19(4):412-420. PubMed ID: 27657687
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Ocular findings of albinism in
Ernst J; Alabek ML; Eldib A; Madan-Khetarpal S; Sebastian J; Bhatia A; Liasis A; Nischal KK
Ophthalmic Genet; 2020 Dec; 41(6):650-655. PubMed ID: 32838606
[TBL] [Abstract][Full Text] [Related]
6. Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).
Koenigbauer JT; Fangmann L; Reinhardt C; Weichert A; Henrich W; Saskia B; Gabriel HP
Arch Gynecol Obstet; 2024 Jun; 309(6):2613-2622. PubMed ID: 37535131
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Clinical phenotype of ASD-associated
Earl RK; Turner TN; Mefford HC; Hudac CM; Gerdts J; Eichler EE; Bernier RA
Mol Autism; 2017; 8():54. PubMed ID: 29034068
[TBL] [Abstract][Full Text] [Related]
9. Ocular Phenotype Associated with
Méjécase C; Way CM; Owen N; Moosajee M
Genes (Basel); 2021 Feb; 12(2):. PubMed ID: 33562844
[TBL] [Abstract][Full Text] [Related]
10. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Meissner LE; Macnamara EF; D'Souza P; Yang J; Vezina G; ; Ferreira CR; Zein WM; Tifft CJ; Adams DR
Mol Genet Genomic Med; 2020 Dec; 8(12):e1544. PubMed ID: 33159716
[TBL] [Abstract][Full Text] [Related]
11. Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
Luco SM; Pohl D; Sell E; Wagner JD; Dyment DA; Daoud H
BMC Med Genet; 2016 Feb; 17():15. PubMed ID: 26922654
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.
Lei TY; Fu F; Li R; Wang D; Wang RY; Jing XY; Deng Q; Li ZZ; Liu ZQ; Yang X; Li DZ; Liao C
Nephrol Dial Transplant; 2017 Oct; 32(10):1665-1675. PubMed ID: 28387813
[TBL] [Abstract][Full Text] [Related]
15. The neurodevelopmental disorder risk gene
Willsey HR; Xu Y; Everitt A; Dea J; Exner CRT; Willsey AJ; State MW; Harland RM
Development; 2020 Jun; 147(21):. PubMed ID: 32467234
[No Abstract] [Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
Riedhammer KM; Ćomić J; Tasic V; Putnik J; Abazi-Emini N; Paripovic A; Stajic N; Meitinger T; Nushi-Stavileci V; Berutti R; Braunisch MC; Hoefele J
Eur J Hum Genet; 2023 Jun; 31(6):674-680. PubMed ID: 36922632
[TBL] [Abstract][Full Text] [Related]
20. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]