P. Steinbach

发表

Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2

H. Walter, F. Mottaghy, S. Reske, 2010, Neurology.

DNA methylation and triplet repeat stability: new proposals addressing actual questions on the CGG repeat of fragile X syndrome.

P. Steinbach, D. Wöhrle, S. Schwemmle, 1996, American journal of medical genetics.

Mitotic behavior of expanded CGG repeats studied on cultured cells: further evidence for methylation-mediated triplet repeat stability in fragile X syndrome.

W. Vogel, D. Gläser, P. Steinbach, 1999, American journal of medical genetics.

Detection of long-term progression of myocardial fibrosis in Duchenne muscular dystrophy in an affected family: a cardiovascular magnetic resonance study.

R. Gradinger, P. Bernhardt, T. Walcher, 2011, European journal of radiology.

The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families

A. Ludolph, S. Waibel, P. Steinbach, 2010, Journal of Neurology.

Does proximal myotonic myopathy show anticipation?

B. Kruse, A. Gal, P. Steinbach, 2008, Human mutation.

Cardiac involvement in a female carrier of Duchenne muscular dystrophy.

V. Hombach, A. Sperfeld, C. Burgstahler, 2010, International journal of cardiology.

Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad.

A. Poustka, H. Hameister, W. Vogel, 1993, Human molecular genetics.

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.

I. Kennerknecht, M. Wolf, P. Steinbach, 1995, Human molecular genetics.

A Patient, Mosaic for Rh and Fy Antigens Lacking Other Signs of Chimerism or Chromosomal Disorder

H. Northoff, S. Goldmann, H. Lattke, 1984, Vox sanguinis.

Demonstration of gene dosage effects for AK3 and GALT in fibroblasts from a fetus with 9p trisomy

P. Steinbach, R. Benz, 2004, Human Genetics.

Enhanced Fmr–1 expression in testis

A. Poustka, H. Hameister, W. Vogel, 1993, Nature Genetics.

Nonrandom distribution of methotrexate-induced aberrations on human chromosomes. Detection of further folic acid sensitive fragile sites

W. Vogel, G. Barbi, P. Steinbach, 2004, Human Genetics.

Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation

P. Steinbach, W. Scholz, W. Horstmann, 2004, Human Genetics.

The dup(3q) syndrome: report of eight cases and review of the literature.

J. Opitz, L. Meisner, I. Hansmann, 1981, American journal of medical genetics.

Unstable ring Y chromosome in an aspermic male

P. Steinbach, W. Scholz, H. Fabry, 1979, Human Genetics.

Basal ganglia involvement of a patient with SCA 17

S. Hesse, O. Sabri, A. Storch, 2004, Journal of Neurology.

Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH‐B gene dosage effect

H. Rehder, P. Steinbach, 1987, Clinical genetics.

On the frequency of telomeric chromosomal changes induced by culture conditions suitable for fragile X expression

G. Barbi, P. Steinbach, Th. Böller, 2004, Human Genetics.

Fragile sites induced by 5-azacytidine and 5-azadeoxycytidine in the murine genome.

H. Hameister, M. Djalali, S. Adolph, 2008, Hereditas.

Recruitment of old genes to new functions: evidences obtained by comparing the orthologues of human XLMR genes in mouse and chicken

M. Kohn, H. Hameister, H. Kehrer-Sawatzki, 2007, Cytogenetic and Genome Research.

A comparative mapping study of fragile sites in the human and murine genomes

H. Hameister, M. Djalali, S. Adolph, 1987, Human Genetics.

Characterization of FMR1 promoter elements by in vivo-footprinting analysis.

B. Oostra, I. Kennerknecht, E. Graaff, 1997, American journal of human genetics.

Expression of the fragile site Xq27 in fibroblasts. I. Detection of Fra(X)(q27) in fibroblast clones from males with X-linked mental retardation

G. Barbi, P. Steinbach, A. Wiedenmann, 2004, Human Genetics.

Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells.

H. Hameister, W. Vogel, H Hameister, 2001, American journal of human genetics.

The spectrum of CFTR mutations in south-west German cystic fibrosis patients

C. Bartram, A. Kulozik, E. Kleihauer, 1992, Human Genetics.

On the significance of true trisomy 20 mosaicism in amniotic fluid culture

M. Djalali, E. Schwinger, M. Wolf, 2004, Human Genetics.

Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA).

M. Rolland, M. Djalali, P. Steinbach, 1985, Prenatal diagnosis.

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, 1985, Human Genetics.

The genetic significance of accessory bisatellited marker chromosomes

M. Djalali, M. Wolf, I. Hansmann, 2004, Human Genetics.

Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX

D. Cooper, M. Krawczak, G. Pescia, 2004, Human Genetics.

Dermatoglyphic peculiarities in families with X‐linked mental retardation and fragile site Xq27: a collaborative study

U. Langenbeck, U. Froster-Iskenius, R. Wegner, 1986, Clinical genetics.

Expression of the fragile site Xq27 in fibroblasts

W. Vogel, G. Barbi, P. Steinbach, 1983, Human Genetics.

Mitotic stability of fragile X mutations in differentiated cells indicates early post–conceptional trinucleotide repeat expansion

W. Vogel, P. Steinbach, D. Wöhrle, 1993, Nature Genetics.

Fragile×expression and×inactivation

J. Fryns, P. Steinbach, D. Wöhrle, 1990, Human Genetics.

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.

J. Fryns, P. Steinbach, D. Wöhrle, 1990, Human genetics.

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

V. Biancalana, P. Steinbach, S. McQuaid, 2014, European Journal of Human Genetics.

Tissue‐specific methylation differences in a fragile X premutation carrier

F. Tassone, J. Longshore, Annette K. Taylor, 1999, Clinical genetics.

Familial pericentric inversion of chromosome 12

W. Schempp, I. Voiculescu, G. Barbi, 1986, Human Genetics.

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

S. Thibodeau, C. Schwartz, I. Glass, 1991, American journal of human genetics.

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

W. Brown, J. Mandel, H. Hjalgrim, 2003, American journal of human genetics.

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families

I. Kennerknecht, M. Zank, E. Passarge, 1993, Human Genetics.

Fragile X expression and X inactivation

P. Steinbach, D. Wöhrle, 1991, Human Genetics.

Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chromosome

P. Steinbach, 1986, Human Genetics.

Investigation of the “variable spreading” of X inactivation into a translocated autosome

P. Steinbach, S. Schanz, 1989, Human Genetics.

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, V. Biancalana, S. Birnbaum, 2011, European Journal of Human Genetics.

The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat.

W. Vogel, W. Vogel, D. Gläser, 1998, American journal of human genetics.

Heterozygous expression of X-linked chondrodysplasia punctata

W. Schulz, G. Barbi, P. Steinbach, 1990, Human Genetics.

The significance of pericentric inversions of chromosome 2

M. Djalali, A. Smith, P. Steinbach, 2004, Human Genetics.

Two cases of ring chromosome 13. Chromosome banding patterns and mosaic configuration.

G. Barbi, P. Steinbach, W. Scholz, 1981, Annales de genetique.

Linkage homogeneity near the fragile X locus in normal and fragile X families.

S. Thibodeau, C. Schwartz, I. Glass, 1991, Genomics.

Fragiles-X Syndrom

P. Steinbach, 2009 .

Genotype mosaicism in fragile X fetal tissues

K. Davies, I. Kennerknecht, P. Steinbach, 1992, Human Genetics.

Manifestation of the fragile site Xq27 in fibroblasts

W. Vogel, G. Barbi, P. Steinbach, 1983, Human Genetics.

Manifestation of the fragile site Xq27 in fibroblasts

W. Vogel, G. Barbi, P. Steinbach, 2004, Human Genetics.

An unusual variant chromosome 9 due to disturbance of normal chromatin condensation at band p12?

P. Steinbach, Gotthold Barbi, Mahmoud Djalali, 1986, Clinical genetics.

9th international workshop on fragile X syndrome and X-linked mental retardation.

G. Ramakers, D. Nelson, C. Schwartz, 2000, American journal of medical genetics.

A Hybrid Radiomics Approach to Modeling Progression-Free Survival in Head and Neck Cancers

S. Starke, M. Piraud, P. Steinbach, 2021, HECKTOR@MICCAI.

Ineffectivity of accessory bisatellited marker chromosomes in inducing meiotic nondisjunction

M. Djalali, P. Steinbach, 2004, Human Genetics.

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.

W. Vogel, W. Vogel, D. Gläser, 1998, Journal of medical genetics.

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?

B. Bardoni, P. Steinbach, D. Wöhrle, 2000, Journal of medical genetics.

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

P. Andersen, A. Ludolph, G. Rouleau, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Corticobasal degeneration presenting with progressive spasticity

W. Paulus, M. Hasselblatt, P. Steinbach, 2007, Neurology.

FMR1 CGG expansion to full mutation: What is the lower limit in premutation females?

W. Brown, J. Mandel, H. Hjalgrim, 2000 .

How can the frequency of false-negative findings in prenatal diagnoses of fra(X) be reduced: experience with first trimester chorionic villi sampling.

I. Kennerknecht, N. Dahl, G. Barbi, 1991, American journal of medical genetics.

X-linked Genes for General Cognitive Abilities

H. Hameister, H. Kehrer-Sawatzki, P. Steinbach, 2006 .

A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases

M. Kohn, H. Hameister, H. Kehrer-Sawatzki, 2004, European Journal of Human Genetics.

SHORT COMMUNICATION PRENATAL DIAGNOSIS OF A TRUE MOSAIC TRISOMY 20 SUBSTANTIATED BY DEMONSTRATION OF A GENE DOSAGE EFFECT FOR ADENOSINE DEAMINASE (ADA)

M. Rolland, M. Djalali, P. Steinbach, 2022 .

Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study

H. Lerche, Y. Weber, J. Kassubek, 2003, Neuroscience Letters.