160 related articles for article (PubMed ID: 29532936)
1. Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.
Anglani F; Terrin L; Brugnara M; Battista M; Cantaluppi V; Ceol M; Bertoldi L; Valle G; Joy MP; Pober BR; Longoni M
Clin Genet; 2018 Jul; 94(1):187-188. PubMed ID: 29532936
[TBL] [Abstract][Full Text] [Related]
2. In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction.
Dachy A; Paquot F; Debray G; Bovy C; Christensen EI; Collard L; Jouret F
Pediatr Nephrol; 2015 Jun; 30(6):1027-31. PubMed ID: 25822460
[TBL] [Abstract][Full Text] [Related]
3. A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity.
Ozdemir H; Plamondon J; Gaskin P; Asoglu MR; Turan S
Am J Med Genet A; 2020 Feb; 182(2):289-292. PubMed ID: 31821692
[TBL] [Abstract][Full Text] [Related]
4. The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.
Khan AO; Ghazi NG
Ophthalmic Genet; 2018 Jun; 39(3):321-324. PubMed ID: 29388841
[TBL] [Abstract][Full Text] [Related]
5. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.
Schrauwen I; Sommen M; Claes C; Pinner J; Flaherty M; Collins F; Van Camp G
Clin Genet; 2014 Sep; 86(3):282-6. PubMed ID: 23992033
[TBL] [Abstract][Full Text] [Related]
6. Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.
Khalifa O; Al-Sahlawi Z; Imtiaz F; Ramzan K; Allam R; Al-Mostafa A; Abdel-Fattah M; Abuharb G; Nester M; Verloes A; Al-Zaidan H
Eur J Med Genet; 2015 May; 58(5):293-9. PubMed ID: 25682901
[TBL] [Abstract][Full Text] [Related]
7. A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.
Pober BR; Longoni M; Noonan KM
Birth Defects Res A Clin Mol Teratol; 2009 Jan; 85(1):76-81. PubMed ID: 19089858
[TBL] [Abstract][Full Text] [Related]
8. Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.
Storm T; Tranebjærg L; Frykholm C; Birn H; Verroust PJ; Nevéus T; Sundelin B; Hertz JM; Holmström G; Ericson K; Christensen EI; Nielsen R
Nephrol Dial Transplant; 2013 Mar; 28(3):585-91. PubMed ID: 23048173
[TBL] [Abstract][Full Text] [Related]
9. From pollakiuria to Donnai-Barrow syndrome diagnosis in pediatric age.
Gritti MM; Pecoraro L; Ceol M; Pietrobelli A; Piacentini G; Anglani F; Brugnara M
Clin Genet; 2023 Dec; 104(6):711-712. PubMed ID: 37592754
[TBL] [Abstract][Full Text] [Related]
10. Megalin-deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice.
Storm T; Heegaard S; Christensen EI; Nielsen R
Cell Tissue Res; 2014 Oct; 358(1):99-107. PubMed ID: 24980834
[TBL] [Abstract][Full Text] [Related]
11. Cubilin-, megalin-, and Dab2-dependent transcription revealed by CRISPR/Cas9 knockout in kidney proximal tubule cells.
Long KR; Rbaibi Y; Bondi CD; Ford BR; Poholek AC; Boyd-Shiwarski CR; Tan RJ; Locker JD; Weisz OA
Am J Physiol Renal Physiol; 2022 Jan; 322(1):F14-F26. PubMed ID: 34747197
[TBL] [Abstract][Full Text] [Related]
12. Bartter-Like Renal Phenotype in a Child with Donnai-Barrow Syndrome.
Sait H; Singh R; Kapoor S
Indian J Pediatr; 2021 Apr; 88(4):390. PubMed ID: 33403612
[No Abstract] [Full Text] [Related]
13. Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism.
Li Q; Lei F; Tang Y; Pan JS; Tong Q; Sun Y; Sheikh-Hamad D
Cell Mol Life Sci; 2018 Nov; 75(21):4021-4040. PubMed ID: 29916093
[TBL] [Abstract][Full Text] [Related]
14. Cochlear implantation in Donnai-Barrow syndrome.
Bruce IA; Broomfield SJ; Henderson L; Green KM; Ramsden RT
Cochlear Implants Int; 2011 Feb; 12(1):60-3. PubMed ID: 21756462
[TBL] [Abstract][Full Text] [Related]
15. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Kantarci S; Al-Gazali L; Hill RS; Donnai D; Black GC; Bieth E; Chassaing N; Lacombe D; Devriendt K; Teebi A; Loscertales M; Robson C; Liu T; MacLaughlin DT; Noonan KM; Russell MK; Walsh CA; Donahoe PK; Pober BR
Nat Genet; 2007 Aug; 39(8):957-9. PubMed ID: 17632512
[TBL] [Abstract][Full Text] [Related]
16. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
Kantarci S; Ragge NK; Thomas NS; Robinson DO; Noonan KM; Russell MK; Donnai D; Raymond FL; Walsh CA; Donahoe PK; Pober BR
Am J Med Genet A; 2008 Jul; 146A(14):1842-7. PubMed ID: 18553518
[TBL] [Abstract][Full Text] [Related]
17. Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist.
Aksenova M; Zaikova N; Lepaeva T
J Nephrol; 2021 Jun; 34(3):921-924. PubMed ID: 33471318
[No Abstract] [Full Text] [Related]
18. Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome.
Flemming J; Marczenke M; Rudolph IM; Nielsen R; Storm T; Erik IC; Diecke S; Emma F; Willnow TE
Kidney Int; 2020 Jul; 98(1):159-167. PubMed ID: 32471643
[TBL] [Abstract][Full Text] [Related]
19. Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome.
Chinta S; Gupta A; Sachdeva V; Kekunnaya R
J AAPOS; 2011 Dec; 15(6):604-5. PubMed ID: 22153411
[TBL] [Abstract][Full Text] [Related]
20. A Case Report of Donnai-Barrow Syndrome.
Robinson MK; Coe K; Bradshaw WT
Adv Neonatal Care; 2021 Apr; 21(2):133-141. PubMed ID: 32657950
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]