OpenURL Connection Search

Select item for more details and to access through your institution.

Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.
Published in:
Nephrology Dialysis Transplantation, 2022, v. 37, n. 12, p. 2351, doi. 10.1093/ndt/gfac207
By:
- Kohl, Stefan;
- Avni, Fred E;
- Boor, Peter;
- Capone, Valentina;
- Clapp, William L;
- Palma, Diego De;
- Harris, Tess;
- Heidet, Laurence;
- Hilger, Alina C;
- Liapis, Helen;
- Lilien, Marc;
- Manzoni, Gianantonio;
- Montini, Giovanni;
- Negrisolo, Susanna;
- Pierrat, Marie-Jeanne;
- Raes, Ann;
- Reutter, Heiko;
- Schreuder, Michiel F;
- Weber, Stefanie;
- Winyard, Paul J D
Publication type:
Article
Whole-Exome Sequencing in Nine Monozygotic Discordant Twins.
Published in:
2016
By:
- Zhang, Rong;
- Thiele, Holger;
- Bartmann, Peter;
- Hilger, Alina C.;
- Berg, Christoph;
- Herberg, Ulrike;
- Klingmüller, Dietrich;
- Nürnberg, Peter;
- Ludwig, Michael;
- Reutter, Heiko
Publication type:
journal article
Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1607, doi. 10.1002/ajmg.a.62643
By:
- Schneider, Sophia;
- Köllges, Ricarda;
- Stegmann, Jil D.;
- Thieme, Frederic;
- Hilger, Alina C.;
- Waffenschmidt, Lea;
- Fazaal, Julia;
- Kalanithy, Jeshurun C.;
- Geipel, Annegret;
- Strizek, Brigitte;
- Ludwig, Kerstin U.;
- Reutter, Heiko;
- Müller, Andreas
Publication type:
Article
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Published in:
Kidney International, 2014, v. 85, n. 6, p. 1310, doi. 10.1038/ki.2013.417
By:
- Saisawat, Pawaree;
- Kohl, Stefan;
- Hilger, Alina C;
- Hwang, Daw-Yang;
- Yung Gee, Heon;
- Dworschak, Gabriel C;
- Tasic, Velibor;
- Pennimpede, Tracie;
- Natarajan, Sivakumar;
- Sperry, Ethan;
- Matassa, Danilo S;
- Stajić, Nataša;
- Bogdanovic, Radovan;
- de Blaauw, Ivo;
- Marcelis, Carlo L M;
- Wijers, Charlotte H W;
- Bartels, Enrika;
- Schmiedeke, Eberhard;
- Schmidt, Dominik;
- Märzheuser, Stefanie
Publication type:
Article
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Published in:
Kidney International, 2014, v. 85, n. 6, p. 1429, doi. 10.1038/ki.2013.508
By:
- Hwang, Daw-Yang;
- Dworschak, Gabriel C;
- Kohl, Stefan;
- Saisawat, Pawaree;
- Vivante, Asaf;
- Hilger, Alina C;
- Reutter, Heiko M;
- Soliman, Neveen A;
- Bogdanovic, Radovan;
- Kehinde, Elijah O;
- Tasic, Velibor;
- Hildebrandt, Friedhelm
Publication type:
Article
Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation.
Published in:
2016
By:
- Schreiner, Felix;
- Plamper, Michaela;
- Dueker, Gesche;
- Schoenberger, Stefan;
- Gámez-Díaz, Laura;
- Grimbacher, Bodo;
- Hilger, Alina C;
- Gohlke, Bettina;
- Reutter, Heiko;
- Woelfle, Joachim
Publication type:
journal article
Modelling human lower urinary tract malformations in zebrafish.
Published in:
Molecular & Cellular Pediatrics, 2023, v. 10, n. 1, p. 1, doi. 10.1186/s40348-023-00156-4
By:
- Kolvenbach, Caroline M.;
- Dworschak, Gabriel C.;
- Rieke, Johanna M.;
- Woolf, Adrian S.;
- Reutter, Heiko;
- Odermatt, Benjamin;
- Hilger, Alina C.
Publication type:
Article
Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis.
Published in:
2021
By:
- Vidic, Clara;
- Zaniew, Marcin;
- Jurga, Szymon;
- Thiele, Holger;
- Reutter, Heiko;
- Hilger, Alina C.
Publication type:
Case Study
Exome sequencing in syndromic brain malformations identifies novel mutations in <italic>ACTB</italic>, and <italic>SLC9A6</italic>, and suggests <italic>BAZ1A</italic> as a new candidate gene.
Published in:
Birth Defects Research, 2018, v. 110, n. 7, p. 587, doi. 10.1002/bdr2.1200
By:
- Weitensteiner, Valerie;
- Zhang, Rong;
- Bungenberg, Julia;
- Marks, Matthias;
- Gehlen, Jan;
- Ralser, Damian J.;
- Hilger, Alina C.;
- Sharma, Amit;
- Schumacher, Johannes;
- Gembruch, Ulrich;
- Merz, Waltraut M.;
- Becker, Albert;
- Altmüller, Janine;
- Thiele, Holger;
- Herrmann, Bernhard G.;
- Odermatt, Benjamin;
- Ludwig, Michael;
- Reutter, Heiko
Publication type:
Article
Long-Term Experience of Arterio-Venous Fistula Surgery in Children on Hemodialysis.
Published in:
Journal of Clinical Medicine, 2024, v. 13, n. 12, p. 3577, doi. 10.3390/jcm13123577
By:
- Almási-Sperling, Veronika;
- Gall, Christine;
- Haney, Briain;
- Latzel, Nina;
- Knieling, Ferdinand;
- Hilger, Alina C.;
- Regensburger, Adrian P.;
- Meyer, Alexander;
- Lang, Werner;
- Rother, Ulrich
Publication type:
Article
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Published in:
Biomolecules (2218-273X), 2023, v. 13, n. 7, p. 1117, doi. 10.3390/biom13071117
By:
- Köllges, Ricarda;
- Stegmann, Jil;
- Schneider, Sophia;
- Waffenschmidt, Lea;
- Fazaal, Julia;
- Breuer, Katinka;
- Hilger, Alina C.;
- Dworschak, Gabriel C.;
- Mingardo, Enrico;
- Rösch, Wolfgang;
- Hofmann, Aybike;
- Neissner, Claudia;
- Ebert, Anne-Karolin;
- Stein, Raimund;
- Younsi, Nina;
- Hirsch-Koch, Karin;
- Schmiedeke, Eberhard;
- Zwink, Nadine;
- Jenetzky, Ekkehart;
- Thiele, Holger
Publication type:
Article
Re‐sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL‐like association, and isolated anorectal malformation.
Published in:
Birth Defects Research, 2022, v. 114, n. 10, p. 478, doi. 10.1002/bdr2.2008
By:
- Thiem, Corina E.;
- Stegmann, Jil D.;
- Hilger, Alina C.;
- Waffenschmidt, Lea;
- Bendixen, Charlotte;
- Köllges, Ricarda;
- Schmiedeke, Eberhard;
- Schäfer, Frank‐Mattias;
- Lacher, Martin;
- Kosch, Ferdinand;
- Grasshoff‐Derr, Sabine;
- Kabs, Carmen;
- Neser, Jörg;
- Jenetzky, Ekkehart;
- Fazaal, Julia;
- Schumacher, Johannes;
- Hoefele, Julia;
- Ludwig, Kerstin U.;
- Reutter, Heiko
Publication type:
Article
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Published in:
Birth Defects Research, 2019, v. 111, n. 10, p. 591, doi. 10.1002/bdr2.1493
By:
- Kause, Franziska;
- Zhang, Rong;
- Ludwig, Michael;
- Schmiedeke, Eberhard;
- Rissmann, Anke;
- Thiele, Holger;
- Altmueller, Janine;
- Herms, Stefan;
- Hilger, Alina C.;
- Hildebrandt, Friedhelm;
- Reutter, Heiko
Publication type:
Article
Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.
Published in:
Molecular Medicine Reports, 2015, v. 12, n. 1, p. 1579, doi. 10.3892/mmr.2015.3486
By:
- GURUNG, NIRMALA;
- GROSSE, GRETA;
- DRAAKEN, MARKUS;
- HILGER, ALINA C.;
- NAUMAN, NUZHAT;
- MÜLLER, ANDREAS;
- GEMBRUCH, ULRICH;
- MERZ, WALTRAUT M.;
- REUTTER, HEIKO;
- LUDWIG, MICHAEL
Publication type:
Article
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
Published in:
eLife, 2022, p. 1, doi. 10.7554/eLife.74777
By:
- Chan, Melanie M. Y.;
- Sadeghi-Alavijeh, Omid;
- Lopes, Filipa M.;
- Hilger, Alina C.;
- Stanescu, Horia C.;
- Voinescu, Catalin D.;
- Beaman, Glenda M.;
- Newman, William G.;
- Zaniew, Marcin;
- Weber, Stefanie;
- Yee Mang Ho;
- Connolly, John O.;
- Wood, Dan;
- Maj, Carlo;
- Stuckey, Alexander;
- Kousathanas, Athanasios;
- Kleta, Robert;
- Woolf, Adrian S.;
- Bockenhauer, Detlef;
- Levine, Adam P.
Publication type:
Article
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
Published in:
eLife, 2022, p. 1, doi. 10.7554/eLife.74777
By:
- Chan, Melanie M. Y.;
- Sadeghi-Alavijeh, Omid;
- Lopes, Filipa M.;
- Hilger, Alina C.;
- Stanescu, Horia C.;
- Voinescu, Catalin D.;
- Beaman, Glenda M.;
- Newman, William G.;
- Zaniew, Marcin;
- Weber, Stefanie;
- Yee Mang Ho;
- Connolly, John O.;
- Wood, Dan;
- Maj, Carlo;
- Stuckey, Alexander;
- Kousathanas, Athanasios;
- Kleta, Robert;
- Woolf, Adrian S.;
- Bockenhauer, Detlef;
- Levine, Adam P.
Publication type:
Article
PKD1L1 Is Involved in Congenital Chylothorax.
Published in:
Cells (2073-4409), 2024, v. 13, n. 2, p. 149, doi. 10.3390/cells13020149
By:
- Whitchurch, Jonathan B.;
- Schneider, Sophia;
- Hilger, Alina C.;
- Köllges, Ricarda;
- Stegmann, Jil D.;
- Waffenschmidt, Lea;
- Dyer, Laura;
- Thiele, Holger;
- Dhabhai, Bhanupriya;
- Dakal, Tikam Chand;
- Müller, Andreas;
- Norris, Dominic P.;
- Reutter, Heiko M.
Publication type:
Article
Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Pakistani case and control mothers.
Published in:
2018
By:
- Nauman, Nuzhat;
- Jalali, Samina;
- Shami, Sajjad;
- Rafiq, Shireen;
- Große, Greta;
- Hilger, Alina C.;
- Rhong Zhang;
- Mansoor, Saira;
- Ludwig, Michael;
- Reutter, Heiko;
- Zhang, Rhong
Publication type:
journal article
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
Published in:
Human Mutation, 2015, v. 36, n. 12, p. 1150, doi. 10.1002/humu.22859
By:
- Hilger, Alina C.;
- Halbritter, Jan;
- Pennimpede, Tracie;
- Ven, Amelie;
- Sarma, Georgia;
- Braun, Daniela A.;
- Porath, Jonathan D.;
- Kohl, Stefan;
- Hwang, Daw‐Yang;
- Dworschak, Gabriel C.;
- Hermann, Bernhard G.;
- Pavlova, Anna;
- El‐Maarri, Osman;
- Nöthen, Markus M.;
- Ludwig, Michael;
- Reutter, Heiko;
- Hildebrandt, Friedhelm
Publication type:
Article
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).
Published in:
Genes, 2021, v. 12, n. 9, p. 1449, doi. 10.3390/genes12091449
By:
- Schierbaum, Luca M.;
- Schneider, Sophia;
- Herms, Stefan;
- Sivalingam, Sugirthan;
- Fabian, Julia;
- Reutter, Heiko;
- Weber, Stefanie;
- Merz, Waltraut M.;
- Tkaczyk, Marcin;
- Miklaszewska, Monika;
- Sikora, Przemyslaw;
- Szmigielska, Agnieszka;
- Krzemien, Grazyna;
- Zachwieja, Katarzyna;
- Szczepanska, Maria;
- Taranta-Janusz, Katarzyna;
- Kroll, Pawel;
- Polok, Marcin;
- Zaniew, Marcin;
- Hilger, Alina C.
Publication type:
Article
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Published in:
Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-04092-3
By:
- Mingardo, Enrico;
- Beaman, Glenda;
- Grote, Philip;
- Nordenskjöld, Agneta;
- Newman, William;
- Woolf, Adrian S.;
- Eckstein, Markus;
- Hilger, Alina C.;
- Dworschak, Gabriel C.;
- Rösch, Wolfgang;
- Ebert, Anne-Karolin;
- Stein, Raimund;
- Brusco, Alfredo;
- Di Grazia, Massimo;
- Tamer, Ali;
- Torres, Federico M.;
- Hernandez, Jose L.;
- Erben, Philipp;
- Maj, Carlo;
- Olmos, Jose M.
Publication type:
Article
Familial congenital lower urinary tract obstruction (LUTO) suggested by screening for lower urinary tract dysfunction in parents of patients: A descriptive study.
Published in:
Health Science Reports, 2024, v. 7, n. 3, p. 1, doi. 10.1002/hsr2.1935
By:
- Ebach, Fabian;
- Wagner, Pauline;
- Stein, Raimund;
- Dolscheid‐Pommerich, Ramona;
- Reutter, Heiko;
- Hilger, Alina C.
Publication type:
Article
A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review.
Published in:
LUTS, 2019, v. 11, n. 2, p. O85, doi. 10.1111/luts.12222
By:
- Frese, Sandra;
- Weigert, Alexander;
- Hoppe, Bernd;
- Feldkötter, Markus;
- Ludwig, Michael;
- Weber, Stefanie;
- Kiliś‐Pstrusińska, Katarzyna;
- Zaniew, Marcin;
- Reutter, Heiko;
- Hilger, Alina C.
Publication type:
Article

Found: 23