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Items: 1 to 20 of 188

1.

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.

Reiss J, Johnson JL.

Hum Mutat. 2003 Jun;21(6):569-76. Review.

PMID:
12754701
2.

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.

Leimkühler S, Charcosset M, Latour P, Dorche C, Kleppe S, Scaglia F, Szymczak I, Schupp P, Hahnewald R, Reiss J.

Hum Genet. 2005 Oct;117(6):565-70. Epub 2005 Jul 14.

PMID:
16021469
3.
4.

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

Reiss J, Hahnewald R.

Hum Mutat. 2011 Jan;32(1):10-8. doi: 10.1002/humu.21390. Review.

PMID:
21031595
5.

Genetics of molybdenum cofactor deficiency.

Reiss J.

Hum Genet. 2000 Feb;106(2):157-63. Review.

PMID:
10746556
6.

Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis.

Hänzelmann P, Schwarz G, Mendel RR.

J Biol Chem. 2002 May 24;277(21):18303-12. Epub 2002 Mar 12.

7.

A Turkish case with molybdenum cofactor deficiency.

Ichida K, Aydin HI, Hosoyamada M, Kalkanoglu HS, Dursun A, Ohno I, Coskun T, Tokatli A, Shibasaki T, Hosoya T.

Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1087-91.

PMID:
17065069
8.

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.

Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C.

Hum Genet. 1998 Dec;103(6):639-44.

PMID:
9921896
9.

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.

Gümüş H, Ghesquiere S, Per H, Kondolot M, Ichida K, Poyrazoğlu G, Kumandaş S, Engelen J, Dundar M, Cağlayan AO.

Dev Med Child Neurol. 2010 Sep;52(9):868-72. doi: 10.1111/j.1469-8749.2010.03724.x. Epub 2010 Jun 22.

10.

A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.

Reiss J, Gross-Hardt S, Christensen E, Schmidt P, Mendel RR, Schwarz G.

Am J Hum Genet. 2001 Jan;68(1):208-13. Epub 2000 Nov 28.

11.

Molybdenum cofactor-deficient mice resemble the phenotype of human patients.

Lee HJ, Adham IM, Schwarz G, Kneussel M, Sass JO, Engel W, Reiss J.

Hum Mol Genet. 2002 Dec 15;11(26):3309-17.

PMID:
12471057
12.

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.

Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, Yanasse Dos Santos L, Taskiran E, de Fátima Turcato M, Lam CW, Reiss J, Walter M, Yalcinkaya C, Camelo Junior JS.

Brain Dev. 2010 Aug;32(7):544-9. doi: 10.1016/j.braindev.2009.09.005. Epub 2009 Sep 29.

PMID:
19793632
13.

Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications.

Schwarz G, Schrader N, Mendel RR, Hecht HJ, Schindelin H.

J Mol Biol. 2001 Sep 14;312(2):405-18.

PMID:
11554796
14.
15.

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.

Arenas M, Fairbanks LD, Vijayakumar K, Carr L, Escuredo E, Marinaki AM.

J Inherit Metab Dis. 2009 Aug;32(4):560-9. doi: 10.1007/s10545-009-1151-7. Epub 2009 Jun 20.

PMID:
19544009
16.

Molybdenum cofactor deficiency: first prenatal genetic analysis.

Reiss J, Christensen E, Dorche C.

Prenat Diagn. 1999 Apr;19(4):386-8.

PMID:
10327149
17.

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.

Reiss J, Cohen N, Dorche C, Mandel H, Mendel RR, Stallmeyer B, Zabot MT, Dierks T.

Nat Genet. 1998 Sep;20(1):51-3.

PMID:
9731530
18.

Molybdenum cofactor deficiency: clinical features in a Turkish patient.

Per H, Gümüş H, Ichida K, Cağlayan O, Kumandaş S.

Brain Dev. 2007 Jul;29(6):365-8. Epub 2006 Dec 8.

PMID:
17158010
19.

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.

Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT.

Am J Hum Genet. 1999 Mar;64(3):706-11.

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