BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 19577669)

  • 1. A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.
    Stora S; Conte M; Chouery E; Richa S; Jalkh N; Gillart AC; Joannis AL; Mégarbané A
    Eur J Med Genet; 2009; 52(5):341-3. PubMed ID: 19577669
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review.
    Schowalter DB; Pagon RA; Kalina RE; McDonald R
    Am J Med Genet; 1997 Mar; 69(1):45-9; discussion 44. PubMed ID: 9066882
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.
    Devriendt K; Standaert L; Van Hole C; Devlieger H; Fryns JP
    J Med Genet; 1998 Jan; 35(1):70-1. PubMed ID: 9475100
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance.
    Avunduk AM; Aslan Y; Kapicioğlu Z; Elmas R
    Acta Ophthalmol Scand; 2000 Apr; 78(2):221-2. PubMed ID: 10794262
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with
    Mingarelli A; Pipitone GB; Torini G; Patricelli MG; Totaro M; Colonna C; Carrera P; Raviglione F
    Case Rep Genet; 2023; 2023():6679572. PubMed ID: 37810913
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
    Donnai D; Barrow M
    Am J Med Genet; 1993 Oct; 47(5):679-82. PubMed ID: 8266995
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
    Sakaguchi Y; Yoshihashi H; Uehara T; Miyama S; Kosaki K; Takenouchi T
    Am J Med Genet A; 2021 Mar; 185(3):884-888. PubMed ID: 33369122
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Beyond the tubule: pathological variants of
    Charlton JR; Tan W; Daouk G; Teot L; Rosen S; Bennett KM; Cwiek A; Nam S; Emma F; Jouret F; Oliveira JP; Tranebjærg L; Frykholm C; Mane S; Hildebrandt F; Srivastava T; Storm T; Christensen EI; Nielsen R
    Am J Physiol Renal Physiol; 2020 Dec; 319(6):F988-F999. PubMed ID: 33103447
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.
    Hu Q; Mai J; Xiang Q; Zhou B; Liu S; Wang J
    BMC Pediatr; 2022 Feb; 22(1):82. PubMed ID: 35130870
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.