U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 60

1.
Transcobalamin C776G Genotype Modifies the Association between Vitamin B12 and Homocysteine in Older Hispanics
Marjorie G. Garrod, Lindsay H. Allen, Mary N. Haan, Ralph Green, Joshua W. Miller
Eur J Clin Nutr. Author manuscript; available in PMC 2010 Nov 1.
Published in final edited form as: Eur J Clin Nutr. 2010 May; 64(5): 503–509. Published online 2010 Mar 10. doi: 10.1038/ejcn.2010.20
PMCID:
PMC2864787
AbstractArticlePDF–790K
2.
MTHFR polymorphisms and vitamin B12 deficiency: correlation between mthfr polymorphisms and clinical and laboratory findings
Sabrina Giammarco, Patrizia Chiusolo, Roberto Maggi, Monica Rossi, Gessica Minnella, Elisabetta Metafuni, Francesco D’Alò, Simona Sica
Ann Hematol. 2024; 103(10): 3973–3977. Published online 2024 Aug 28. doi: 10.1007/s00277-024-05937-z
PMCID:
PMC11512882
AbstractArticlePDF–564K
3.
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN
Gianpaolo De Filippo, Domenico Rendina, Vincenzo Rocco, Teresa Esposito, Fernando Gianfrancesco, Pasquale Strazzullo
Ital J Pediatr. 2013; 39: 58. Published online 2013 Sep 17. doi: 10.1186/1824-7288-39-58
PMCID:
PMC3848621
AbstractArticlePDF–284K
4.
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome
Tina Storm, Christina Zeitz, Olivier Cases, Sabine Amsellem, Pierre J Verroust, Mette Madsen, Jean-François Benoist, Sandrine Passemard, Sophie Lebon, Iben Møller Jønsson, Francesco Emma, Heidi Koldsø, Jens Michael Hertz, Rikke Nielsen, Erik I Christensen, Renata Kozyraki
BMC Med Genet. 2013; 14: 111. Published online 2013 Oct 24. doi: 10.1186/1471-2350-14-111
PMCID:
PMC3826550
AbstractArticlePDF–1.8M
5.
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1
Hung-Chun Yu, Jennifer L. Sloan, Gunter Scharer, Alison Brebner, Anita M. Quintana, Nathan P. Achilly, Irini Manoli, Curtis R. Coughlin, II, Elizabeth A. Geiger, Una Schneck, David Watkins, Terttu Suormala, Johan L.K. Van Hove, Brian Fowler, Matthias R. Baumgartner, David S. Rosenblatt, Charles P. Venditti, Tamim H. Shaikh
Am J Hum Genet. 2013 Sep 5; 93(3): 506–514. doi: 10.1016/j.ajhg.2013.07.022
PMCID:
PMC3769968
AbstractArticlePDF–737K
6.
An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs
John C. Fyfe, Shelby L. Hemker, Patrick J. Venta, Caitlin A. Fitzgerald, Catherine A. Outerbridge, Sherry L. Myers, Urs Giger
Mol Genet Metab. Author manuscript; available in PMC 2014 Aug 1.
Published in final edited form as: Mol Genet Metab. 2013 Aug; 109(4): 390–396. Published online 2013 May 22. doi: 10.1016/j.ymgme.2013.05.006
PMCID:
PMC3729882
AbstractArticlePDF–688K
7.
A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption)
Marta Owczarek-Lipska, Vidhya Jagannathan, Cord Drögemüller, Sabina Lutz, Barbara Glanemann, Tosso Leeb, Peter H. Kook
PLoS One. 2013; 8(4): e61144. Published online 2013 Apr 16. doi: 10.1371/journal.pone.0061144
PMCID:
PMC3628801
AbstractArticlePDF–435K
8.
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns
Stephan M Tanner, Amy C Sturm, Elizabeth C Baack, Sandya Liyanarachchi, Albert de la Chapelle
Orphanet J Rare Dis. 2012; 7: 56. Published online 2012 Aug 28. doi: 10.1186/1750-1172-7-56
PMCID:
PMC3462684
AbstractArticlePDF–417K
9.
Gender and Single Nucleotide Polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 Are Significant Predictors of Plasma Homocysteine Normalized by RBC Folate in Healthy Adults
Andrew J. Clifford, Kehui Chen, Laura McWade, Gonzalo Rincon, Seung-Hyun Kim, Dirk M. Holstege, Janel E. Owens, Bitao Liu, Hans-Georg Müller, Juan F. Medrano, James G. Fadel, Alanna J. Moshfegh, David J. Baer, Janet A. Novotny
J Nutr. 2012 Sep; 142(9): 1764–1771. Published online 2012 Jul 25. doi: 10.3945/jn.112.160333
Correction in:
J Nutr. 2013 Jun; 143(6): 934.
PMCID:
PMC3417835
AbstractArticlePDF–532K
10.
Role of homocysteine & MTHFR C677T gene polymorphism as risk factors for coronary artery disease in young Indians
Santosh Kumar Gupta, Jyoti Kotwal, Atul Kotwal, Anil Dhall, Salil Garg
Indian J Med Res. 2012 Apr; 135(4): 506–512.
Correction in:
Indian J Med Res. 2013 Oct; 138(4): 574.
PMCID:
PMC3385234
AbstractArticlePDF–441K
11.
Polymorphisms in MTHFR, MS and CBS Genes and Homocysteine Levels in a Pakistani Population
Mohsin Yakub, Naushad Moti, Siddiqa Parveen, Bushra Chaudhry, Iqbal Azam, Mohammad Perwaiz Iqbal
PLoS One. 2012; 7(3): e33222. Published online 2012 Mar 21. doi: 10.1371/journal.pone.0033222
PMCID:
PMC3310006
AbstractArticlePDF–104K
12.
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities
Cameron M Beech, Sandya Liyanarachchi, Nidhi P Shah, Amy C Sturm, May F Sadiq, Albert de la Chapelle, Stephan M Tanner
Orphanet J Rare Dis. 2011; 6: 74. Published online 2011 Nov 13. doi: 10.1186/1750-1172-6-74
PMCID:
PMC3226546
AbstractArticlePDF–339K
13.
Luminal expression of cubilin is impaired in Imerslund-Gräsbeck syndrome with compound AMN mutations in intron 3 and exon 7
Fares Namour, Gabriele Dobrovoljski, Celine Chery, Sandra Audonnet, François Feillet, Wolfgang Sperl, Jean-Louis Gueant
Haematologica. 2011 Nov; 96(11): 1715–1719. doi: 10.3324/haematol.2011.043984
PMCID:
PMC3208692
AbstractArticlePDF–835K
14.
Juvenile selective vitamin B12 malabsorption: 50 years after its description – 10 years of genetic testing
Ralph Gräsbeck, Stephan M. Tanner
Pediatr Res. Author manuscript; available in PMC 2012 Sep 1.
Published in final edited form as: Pediatr Res. 2011 Sep; 70(3): 222–228. doi: 10.1203/PDR.0b013e3182242124
PMCID:
PMC3152595
AbstractArticlePDF–160K
15.
Genetics of homocysteine metabolism and associated disorders
S. Brustolin, R. Giugliani, T. M. Félix
Braz J Med Biol Res. Author manuscript; available in PMC 2011 Apr 18.
Published in final edited form as: Braz J Med Biol Res. 2010 Jan; 43(1): 1–7. Published online 2009 Dec 4. doi: 10.1590/s0100-879x2009007500021
PMCID:
PMC3078648
AbstractArticlePDF–80K
16.
Selective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund‐Gräsbeck Syndrome) in Juvenile Beagles
J.C. Fyfe, S.L. Hemker, P.J. Venta, B. Stebbing, U. Giger
J Vet Intern Med. 2014 Mar-Apr; 28(2): 356–362. Published online 2014 Jan 16. doi: 10.1111/jvim.12284
PMCID:
PMC3959579
AbstractArticlePDF–187K
17.
Effect of B vitamin supplementation on plasma homocysteine levels in celiac disease
Muhammed Hadithi, Chris JJ Mulder, Frank Stam, Joshan Azizi, J Bart A Crusius, Amado Salvador Peña, Coen DA Stehouwer, Yvo M Smulders
World J Gastroenterol. 2009 Feb 28; 15(8): 955–960. Published online 2009 Feb 28. doi: 10.3748/wjg.15.955
PMCID:
PMC2653396
AbstractArticlePDF–688K
18.
Hemolysis and hyperhomocysteinemia caused by cobalamin deficiency: three case reports and review of the literature
Utkarsh Acharya, Jen-Tzer Gau, William Horvath, Paolo Ventura, Chung-Tsen Hsueh, Wayne Carlsen
J Hematol Oncol. 2008; 1: 26. Published online 2008 Dec 18. doi: 10.1186/1756-8722-1-26
PMCID:
PMC2626597
AbstractArticlePDF–415K
19.
Selective vitamin B12 malabsorption in two siblings
Sam Khakee, Andrew Stachewitsch, Max Katz
Can Med Assoc J. 1974 Jan 5; 110(1): 53–55.
PMCID:
PMC1947223
SummaryPage BrowsePDF–1.2M
20.
Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo
Qianchuan He, Mette Madsen, Adam Kilkenney, Brittany Gregory, Erik I. Christensen, Henrik Vorum, Peter Højrup, Alejandro A. Schäffer, Ewen F. Kirkness, Stephan M. Tanner, Albert de la Chapelle, Urs Giger, Søren K. Moestrup, John C. Fyfe
Blood. 2005 Aug 15; 106(4): 1447–1453. Prepublished online 2005 Apr 21. doi: 10.1182/blood-2005-03-1197
PMCID:
PMC1895201
AbstractArticle

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center