165 related articles for article (PubMed ID: 33031161)
1. Novel CUBN Mutation in a Young Child With Megaloblastic Anemia.
Falcon C; Hamm AJ; Li G; Lebensburger J; Howard TH; Xavier AC
J Pediatr Hematol Oncol; 2021 May; 43(4):e546-e549. PubMed ID: 33031161
[TBL] [Abstract][Full Text] [Related]
2. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs.
Fyfe JC; Hemker SL; Venta PJ; Fitzgerald CA; Outerbridge CA; Myers SL; Giger U
Mol Genet Metab; 2013 Aug; 109(4):390-6. PubMed ID: 23746554
[TBL] [Abstract][Full Text] [Related]
3. A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).
Owczarek-Lipska M; Jagannathan V; Drögemüller C; Lutz S; Glanemann B; Leeb T; Kook PH
PLoS One; 2013; 8(4):e61144. PubMed ID: 23613799
[TBL] [Abstract][Full Text] [Related]
4. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Aminoff M; Carter JE; Chadwick RB; Johnson C; Gräsbeck R; Abdelaal MA; Broch H; Jenner LB; Verroust PJ; Moestrup SK; de la Chapelle A; Krahe R
Nat Genet; 1999 Mar; 21(3):309-13. PubMed ID: 10080186
[TBL] [Abstract][Full Text] [Related]
5. Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.
Al-Alami JR; Tanner SM; Tayeh MK; de la Chapelle A; El-Shanti H
Saudi Med J; 2005 Jul; 26(7):1061-4. PubMed ID: 16047053
[TBL] [Abstract][Full Text] [Related]
6. Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN.
Hauck FH; Tanner SM; Henker J; Laass MW
Eur J Pediatr; 2008 Jun; 167(6):671-5. PubMed ID: 17668238
[TBL] [Abstract][Full Text] [Related]
7. Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.
Storm T; Zeitz C; Cases O; Amsellem S; Verroust PJ; Madsen M; Benoist JF; Passemard S; Lebon S; Jønsson IM; Emma F; Koldsø H; Hertz JM; Nielsen R; Christensen EI; Kozyraki R
BMC Med Genet; 2013 Oct; 14():111. PubMed ID: 24156255
[TBL] [Abstract][Full Text] [Related]
8. Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults.
Teplitsky V; Huminer D; Zoldan J; Pitlik S; Shohat M; Mittelman M
Isr Med Assoc J; 2003 Dec; 5(12):868-72. PubMed ID: 14689755
[TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.
Elshinawy M; Gao HH; Al-Nabhani DM; Al-Thihli KA
Int J Lab Hematol; 2021 Oct; 43(5):1009-1015. PubMed ID: 33491342
[TBL] [Abstract][Full Text] [Related]
10. Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.
Kristiansen M; Aminoff M; Jacobsen C; de La Chapelle A; Krahe R; Verroust PJ; Moestrup SK
Blood; 2000 Jul; 96(2):405-9. PubMed ID: 10887099
[TBL] [Abstract][Full Text] [Related]
11. Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
Tanner SM; Li Z; Bisson R; Acar C; Oner C; Oner R; Cetin M; Abdelaal MA; Ismail EA; Lissens W; Krahe R; Broch H; Gräsbeck R; de la Chapelle A
Hum Mutat; 2004 Apr; 23(4):327-33. PubMed ID: 15024727
[TBL] [Abstract][Full Text] [Related]
12. The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.
Kozyraki R; Kristiansen M; Silahtaroglu A; Hansen C; Jacobsen C; Tommerup N; Verroust PJ; Moestrup SK
Blood; 1998 May; 91(10):3593-600. PubMed ID: 9572993
[TBL] [Abstract][Full Text] [Related]
13. A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).
Drögemüller M; Jagannathan V; Howard J; Bruggmann R; Drögemüller C; Ruetten M; Leeb T; Kook PH
Anim Genet; 2014 Feb; 45(1):148-50. PubMed ID: 24164695
[TBL] [Abstract][Full Text] [Related]
14. Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant.
Fyfe JC; Hemker SL; Frampton A; Raj K; Nagy PL; Gibbon KJ; Giger U
BMC Vet Res; 2018 Dec; 14(1):418. PubMed ID: 30591068
[TBL] [Abstract][Full Text] [Related]
15. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M; Boyer O; Servais A; Li Y; Villoing-Gaudé L; Tête MJ; Cambier A; Hogan J; Baudouin V; Krid S; Bensman A; Lammens F; Louillet F; Ranchin B; Vigneau C; Bouteau I; Isnard-Bagnis C; Mache CJ; Schäfer T; Pape L; Gödel M; Huber TB; Benz M; Klaus G; Hansen M; Latta K; Gribouval O; Morinière V; Tournant C; Grohmann M; Kuhn E; Wagner T; Bole-Feysot C; Jabot-Hanin F; Nitschké P; Ahluwalia TS; Köttgen A; Andersen CBF; Bergmann C; Antignac C; Simons M
J Clin Invest; 2020 Jan; 130(1):335-344. PubMed ID: 31613795
[TBL] [Abstract][Full Text] [Related]
16. Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Gräsbeck syndrome) in juvenile Beagles.
Fyfe JC; Hemker SL; Venta PJ; Stebbing B; Giger U
J Vet Intern Med; 2014; 28(2):356-62. PubMed ID: 24433284
[TBL] [Abstract][Full Text] [Related]
17. Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM; Sturm AC; Baack EC; Liyanarachchi S; de la Chapelle A
Orphanet J Rare Dis; 2012 Aug; 7():56. PubMed ID: 22929189
[TBL] [Abstract][Full Text] [Related]
18. Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the
Pacitto A; Prontera P; Stangoni G; Stefanelli M; Ceppi S; Cerri C; Gurdo G; Mencarelli A; Esposito S
Int J Mol Sci; 2019 Jan; 20(3):. PubMed ID: 30691194
[TBL] [Abstract][Full Text] [Related]
19. Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
Gräsbeck R
Orphanet J Rare Dis; 2006 May; 1():17. PubMed ID: 16722557
[TBL] [Abstract][Full Text] [Related]
20. A 17-Month-old Boy With Pancytopenia Caused by a Rare Genetic Defect of Vitamin B12 Malabsorption.
Baker KM; Parikh NS; Salsbery KT; Shaw GR; Steiner RD; Oelstrom MJ; Manalang MA
J Pediatr Hematol Oncol; 2022 Mar; 44(2):e444-e446. PubMed ID: 34054045
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
