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Results: 7

1.

Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy.

Dadgar S, Hagens O, Dadgar SR, Haghighi EN, Schimpf S, Wissinger B, Garshasbi M.

Exp Eye Res. 2006 Sep;83(3):702-6. Epub 2006 May 12.

PMID:
16698014
[PubMed - indexed for MEDLINE]
2.

A new standard nomenclature for proteins related to Apx and Shroom.

Hagens O, Ballabio A, Kalscheuer V, Kraehenbuhl JP, Schiaffino MV, Smith P, Staub O, Hildebrand J, Wallingford JB.

BMC Cell Biol. 2006 Apr 14;7:18.

PMID:
16615870
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.

Cossée M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, Springell K, Thelma BK, Woods G, Kalscheuer V, Mandel JL.

Eur J Hum Genet. 2006 Apr;14(4):418-25.

PMID:
16493439
[PubMed - indexed for MEDLINE]
Free Article
4.

Characterization of FBX25, encoding a novel brain-expressed F-box protein.

Hagens O, Minina E, Schweiger S, Ropers HH, Kalscheuer V.

Biochim Biophys Acta. 2006 Jan;1760(1):110-8. Epub 2005 Oct 24.

PMID:
16278047
[PubMed - indexed for MEDLINE]
Free Article
5.

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gécz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A.

Hum Genet. 2006 Jan;118(5):578-90. Epub 2005 Oct 26.

PMID:
16249884
[PubMed - indexed for MEDLINE]
6.

Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.

Shoichet SA, Duprez L, Hagens O, Waetzig V, Menzel C, Herdegen T, Schweiger S, Dan B, Vamos E, Ropers HH, Kalscheuer VM.

Hum Genet. 2006 Jan;118(5):559-67. Epub 2005 Oct 25.

PMID:
16249883
[PubMed - indexed for MEDLINE]
7.

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BC, Schweiger S, Ropers HH.

Nat Genet. 2003 Dec;35(4):313-5. Epub 2003 Nov 23.

PMID:
14634649
[PubMed - indexed for MEDLINE]

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