Steinberger D - Search Results

1

Integrated physical and transcript map of 5q31.3-qter.

Kostrzewa M, Krings BW, Dixon MJ, Eppelt K, Köhler A, Grady DL, Steinberger D, Fairweather ND, Moyzis RK, Monaco AP, Müller U. Kostrzewa M, et al. Among authors: steinberger d. Eur J Hum Genet. 1998 May-Jun;6(3):266-74. doi: 10.1038/sj.ejhg.5200188. Eur J Hum Genet. 1998. PMID: 9781031

2

Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome.

Steinberger D, Mulliken JB, Müller U. Steinberger D, et al. Hum Genet. 1995 Jul;96(1):113-5. doi: 10.1007/BF00214198. Hum Genet. 1995. PMID: 7607643

3

Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.

Steinberger D, Mulliken JB, Müller U. Steinberger D, et al. Hum Mutat. 1996;8(4):386-90. doi: 10.1002/(SICI)1098-1004(1996)8:4<386::AID-HUMU18>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8956050 No abstract available.

4

The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

Steinberger D, Vriend G, Mulliken JB, Müller U. Steinberger D, et al. Hum Genet. 1998 Feb;102(2):145-50. doi: 10.1007/s004390050668. Hum Genet. 1998. PMID: 9521581

5

MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13.

Steinmüller R, Steinberger D, Müller U. Steinmüller R, et al. Among authors: steinberger d. Eur J Hum Genet. 1998 May-Jun;6(3):201-6. doi: 10.1038/sj.ejhg.5200180. Eur J Hum Genet. 1998. PMID: 9781023

6

PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma.

Niemann S, Steinberger D, Müller U. Niemann S, et al. Among authors: steinberger d. Neurogenetics. 1999 Sep;2(3):167-70. doi: 10.1007/s100480050078. Neurogenetics. 1999. PMID: 10541590

7

A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.

Steinberger D, Collmann H, Schmalenberger B, Müller U. Steinberger D, et al. J Med Genet. 1997 May;34(5):420-2. doi: 10.1136/jmg.34.5.420. J Med Genet. 1997. PMID: 9152842 Free PMC article.

8

Clinical and molecular genetics of primary dystonias.

Müller U, Steinberger D, Németh AH. Müller U, et al. Among authors: steinberger d. Neurogenetics. 1998 Mar;1(3):165-77. doi: 10.1007/s100480050025. Neurogenetics. 1998. PMID: 10737119 Review.

9

Mutations of GCH1 in Dopa-responsive dystonia.

Müller U, Steinberger D, Topka H. Müller U, et al. Among authors: steinberger d. J Neural Transm (Vienna). 2002 Mar;109(3):321-8. doi: 10.1007/s007020200026. J Neural Transm (Vienna). 2002. PMID: 11956954 Review.

10

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

Steinberger D, Reinhartz T, Unsöld R, Müller U. Steinberger D, et al. Am J Med Genet. 1996 Dec 2;66(1):81-6. doi: 10.1002/(SICI)1096-8628(19961202)66:1<81::AID-AJMG19>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8957519

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

80 results

Search Page

Filters