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P. Steinbach · SciRah

Researcher profile · Semantic Scholar

P. Steinbach

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P. Steinbach — researcher profile on SciRah

h-index: 24
Works: 89
Citations: 2,461

Most-cited papers

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
S. Nolin, W. Brown, A. Glicksman, G. Houck +16 more
2003American Journal of Human Genetics391 citations Open access
Semantic Scholar
Mitotic stability of fragile X mutations in differentiated cells indicates early post–conceptional trinucleotide repeat expansion
D. Wöhrle, I. Hennig, W. Vogel, P. Steinbach
1993Nature Genetics177 citations
Semantic Scholar
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2
Yvonne G. Weber, R. Roebling, J. Kassubek, S. Hoffmann +9 more
2010Neurology124 citations
Semantic Scholar
Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells.
D. Wöhrle, U. Salat, Horst Hameister, Walter Vogel +1 more
2001American Journal of Human Genetics122 citations Open access
Semantic Scholar
The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat.
P. Steinbach, D. Gläser, W. Vogel, M. Wolf +1 more
1998American Journal of Human Genetics116 citations Open access
Semantic Scholar
Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.
D. Wöhrle, U. Salat, D. Gläser, J. Mücke +4 more
1998Journal of Medical Genetics102 citations Open access
Semantic Scholar
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders
V. Biancalana, D. Glaeser, S. McQuaid, P. Steinbach
2014European Journal of Human Genetics97 citations Open access
Semantic Scholar
The dup(3q) syndrome: report of eight cases and review of the literature.
P. Steinbach, W. Adkins, H. Caspar, K. Dumars +16 more
1981American journal of medical genetics94 citations
Semantic Scholar
Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability.
D. Wöhrle, Ingo Kennerknecht, M. Wolf, Herbert Enders +2 more
1995Human Molecular Genetics93 citations
Semantic Scholar
Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?
A. Felbecker, W. Camu, P. Valdmanis, A. Sperfeld +5 more
2010Journal of Neurology Neurosurgery & Psychiatry80 citations
Semantic Scholar
Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study.
J. Kassubek, F. Juengling, S. Hoffmann, A. Rosenbohm +8 more
2003Neuroscience Letters66 citations
Semantic Scholar
Characterization of FMR1 promoter elements by in vivo-footprinting analysis.
S. Schwemmle, E. de Graaff, H. Deissler, D. Gläser +7 more
1997American Journal of Human Genetics66 citations Open access
Semantic Scholar
Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.
Peter B. Jacky, Y. Ahuja, K. Anyane-Yeboa, W. Breg +20 more
1991American journal of medical genetics54 citations
Semantic Scholar
Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH‐B gene dosage effect
P. Steinbach, H. Rehder
1987Clinical Genetics47 citations
Semantic Scholar
Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.
G. Suthers, J. Mulley, M. Voelckel, Niklas Dahl +13 more
1991American Journal of Human Genetics46 citations
Semantic Scholar
Enhanced Fmr–1 expression in testis
Dietmar Bächner, P. Steinbach, D. Wöhrle, W. Just +4 more
1993Nature Genetics38 citations Open access
Semantic Scholar
Basal ganglia involvement of a patient with SCA 17
P. Günther, A. Storch, Johannes Schwarz, O. Sabri +3 more
2004Journal of Neurology34 citations
Semantic Scholar
Detection of long-term progression of myocardial fibrosis in Duchenne muscular dystrophy in an affected family: a cardiovascular magnetic resonance study.
T. Walcher, P. Steinbach, J. Spiess, M. Kunze +3 more
2011European Journal of Radiology32 citations
Semantic Scholar
The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families
M. Rabe, A. Felbecker, S. Waibel, P. Steinbach +2 more
2010Journal of Neurology32 citations
Semantic Scholar
Cardiac involvement in a female carrier of Duchenne muscular dystrophy.
T. Walcher, M. Kunze, P. Steinbach, A. Sperfeld +3 more
2010International Journal of Cardiology30 citations
Semantic Scholar
The genetic significance of accessory bisatellited marker chromosomes
P. Steinbach, M. Djalali, I. Hansmann, E. Kattner +4 more
2004Human Genetics29 citations
Semantic Scholar
Increase of FMRP expression, raised levels ofFMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?
U. Salat, B. Bardoni, D. Wöhrle, P. Steinbach
2000Journal of Medical Genetics29 citations Open access
Semantic Scholar
Mitotic behavior of expanded CGG repeats studied on cultured cells: further evidence for methylation-mediated triplet repeat stability in fragile X syndrome.
D. Gläser, D. Wöhrle, U. Salat, W. Vogel +1 more
1999American journal of medical genetics27 citations
Semantic Scholar
Nonrandom distribution of methotrexate-induced aberrations on human chromosomes. Detection of further folic acid sensitive fragile sites
G. Barbi, P. Steinbach, W. Vogel
2004Human Genetics26 citations
Semantic Scholar
Tissue‐specific methylation differences in a fragile X premutation carrier
F. Tassone, J. Longshore, J. Zunich, P. Steinbach +2 more
1999Clinical Genetics24 citations
Semantic Scholar
DNA methylation and triplet repeat stability: new proposals addressing actual questions on the CGG repeat of fragile X syndrome.
D. Wöhrle, Sabine Schwemmle, P. Steinbach
1996American journal of medical genetics24 citations
Semantic Scholar
A comparative mapping study of fragile sites in the human and murine genomes
M. Djalali, S. Adolph, P. Steinbach, Heinz Winking +1 more
1987Human Genetics22 citations
Semantic Scholar
Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation
P. Steinbach, W. Horstmann, W. Scholz
2004Human Genetics21 citations
Semantic Scholar
The significance of pericentric inversions of chromosome 2
M. Djalali, P. Steinbach, J. Bullerdiek, M. Holmes-Siedle +2 more
2004Human Genetics21 citations
Semantic Scholar
A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases
M. Kohn, P. Steinbach, H. Hameister, H. Kehrer-Sawatzki
2004European Journal of Human Genetics21 citations
Semantic Scholar
Folic acid sensitive fragile sites are not limited to the human karyotype. Demonstration of nonrandom gaps and breaks in the Persian vole Ellobius lutescens Th. inducible by methotrexate, fluorodeoxyuridine, and aphidicolin
M. Djalali, G. Barbi, P. Steinbach
1985Human Genetics17 citations
Semantic Scholar
Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q.
P. Steinbach, M. Wolf, H. Schmidt
1984American journal of medical genetics17 citations
Semantic Scholar
On the frequency of telomeric chromosomal changes induced by culture conditions suitable for fragile X expression
P. Steinbach, G. Barbi, Th. Boller
2004Human Genetics16 citations
Semantic Scholar
Genotype mosaicism in fragile X fetal tissues
D. Wöhrle, M. Hirst, I. Kennerknecht, K. Davies +1 more
1992Human Genetics16 citations
Semantic Scholar
Investigation of the “variable spreading” of X inactivation into a translocated autosome
S. Schanz, P. Steinbach
1989Human Genetics16 citations
Semantic Scholar
Second trimester prenatal diagnosis of the fragile X.
Niels Tommerup, P. Aula, B. Gustavii, Arvid Heiberg +13 more
1986American journal of medical genetics16 citations
Semantic Scholar
Familial pericentric inversion of chromosome 12
I. Voiculescu, G. Barbi, Gerhard Wolff, P. Steinbach +2 more
1986Human Genetics16 citations
Semantic Scholar
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency
S. Jacquemont, S. Birnbaum, S. Redler, P. Steinbach +1 more
2011European Journal of Human Genetics14 citations Open access
Semantic Scholar
Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses.
Stephanie L. Sherman, A. Maddalena, P. Howard-Peebles, W. Brown +28 more
1994American journal of medical genetics14 citations
Semantic Scholar
Linkage homogeneity near the fragile X locus in normal and fragile X families.
G. Suthers, J. Mulley, M. Voelckel, Niklas Dahl +13 more
1991Genomics13 citations
Semantic Scholar
Dermatoglyphic peculiarities in families with X‐linked mental retardation and fragile site Xq27: a collaborative study
A. Rodewald, Ursula G. Froster-Iskenius, E. Kab, U. Langenbeck +9 more
1986Clinical Genetics13 citations Open access
Semantic Scholar
Does proximal myotonic myopathy show anticipation?
B. Kruse, D. Wöhrle, P. Steinbach, A. Gal
2008Human Mutation12 citations Open access
Semantic Scholar
Recruitment of old genes to new functions: evidences obtained by comparing the orthologues of human XLMR genes in mouse and chicken
M. Kohn, H. Kehrer-Sawatzki, P. Steinbach, J. Marshall Graves +1 more
2007Cytogenetic and Genome Research12 citations
Semantic Scholar
Chromosome 9 of Ellobius lutescens is the X chromosome
W. Vogel, P. Steinbach, M. Djalali, K. Mehnert +2 more
2004Chromosoma11 citations
Semantic Scholar
Ineffectivity of accessory bisatellited marker chromosomes in inducing meiotic nondisjunction
P. Steinbach, M. Djalali
2004Human Genetics11 citations
Semantic Scholar
Expression of the fragile site Xq27 in fibroblasts. I. Detection of Fra(X)(q27) in fibroblast clones from males with X-linked mental retardation
P. Steinbach, G. Barbi, S. Baur, A. Wiedenmann
2004Human Genetics10 citations
Semantic Scholar
A Patient, Mosaic for Rh and Fy Antigens Lacking Other Signs of Chimerism or Chromosomal Disorder
H. Northoff, S. F. Goldmann, Herbert Lattke, P. Steinbach
1984Vox Sanguinis10 citations
Semantic Scholar
Fragile sites induced by 5-azacytidine and 5-azadeoxycytidine in the murine genome.
M. Djalali, S. Adolph, P. Steinbach, Heinz Winking +1 more
2008Hereditas9 citations Open access
Semantic Scholar
9th international workshop on fragile X syndrome and X-linked mental retardation.
J. Fryns, M. Borghgraef, Ted W. Brown, J. Chelly +24 more
2000American journal of medical genetics8 citations
Semantic Scholar
Fragile X expression and X inactivation. I. The expression of the fragile site at Xq27.3 is not suppressed on inactive X chromosomes separated from the active homologue.
D. Wöhrle, J. Fryns, P. Steinbach
1990Human Genetics8 citations
Semantic Scholar

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S. Schwemmle×3

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