J. Wirth

发表

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

N. Tommerup, Jobst Meyer, W. Schempp, 1994, Cell.

Mouse Dac, a novel nuclear factor with homology to Drosophila dachshund shows a dynamic expression in the neural crest, the eye, the neocortex, and the limb bud

U. Rüther, H. Nothwang, X. Caubit, 1999, Developmental dynamics : an official publication of the American Association of Anatomists.

Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations

S. Bohlander, H. Kehrer-Sawatzki, B. Zoll, 2004, American journal of medical genetics. Part A.

Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations

A. Rosenthal, N. Tommerup, H. Ropers, 2000, Cytogenetic and Genome Research.

DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner.

H. Ropers, M. P. Scheer, H. Nothwang, 2000, Genomics.

A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

A. Rump, F. Luft, S. Tinschert, 2010, Human molecular genetics.

Not para-, not peri-, but centric inversion of chromosome 12.

Z. Tümer, N. Tommerup, J. Wirth, 1998, Journal of medical genetics.

SOX20, a new member of the SOX gene family, is located on chromosome 17p13.

W. Schempp, G. Scherer, J. Wirth, 1996, Cytogenetics and cell genetics.

Clinical and molecular‐cytogenetic studies in seven patients with ring chromosome 18

P. Stankiewicz, J. Pilch, A. Wozniak, 2001 .

Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome

N. Tommerup, H. Ropers, T. Haaf, 2001, Journal of medical genetics.

Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review

A. Hübler, M. Rocchi, T. Liehr, 2000, Journal of medical genetics.

Mild phenotype in two unrelated patients with a partial deletion of 21q22.2‐q22.3 defined by FISH and molecular studies

J. Horst, I. Kennerknecht, J. Wirth, 2004, American journal of medical genetics. Part A.

Identification of positional candidates for neurological disorders on chromsome 13q14-->q22.

N. Tommerup, T. Haaf, H. Ropers, 1997, Cytogenetics and cell genetics.

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.

L. Ashworth, N. Tommerup, H. Ropers, 2001, Human molecular genetics.

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.

P. Stankiewicz, J. Pilch, A. Wozniak, 2001, American journal of medical genetics.

Erratum to the report of the third international workshop on human Y chromosome mapping 1997

A. Uitterlinden, E. Mullaart, A. Protopopov, 1997 .

Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2).

G. Gillessen‐kaesbach, E. Passarge, J. Wirth, 2001, American journal of medical genetics.

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

N. Tommerup, T. Haaf, C. Menzel, 1999, Journal of medical genetics.

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

E. Mariman, A. Silahtaroglu, Z. Tümer, 1999, European Journal of Human Genetics.

Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier

G. Utermann, J. Wirth, H. Duba, 1998, European Journal of Human Genetics.

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.

A. Hüttenhofer, N. Tommerup, H. Ropers, 2001, Human molecular genetics.

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9

Jobst Meyer, W. Schempp, G. Scherer, 1996, Human Genetics.

Complex FISH probes for the subtelomeric regions of all human chromosomes: comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apes.

S. Freier, T. Haaf, H. Ropers, 1997, Cytogenetics and cell genetics.

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

C. Lundsteen, T. Gerdes, Z. Tümer, 2000, European Journal of Human Genetics.

Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)

A. Silahtaroglu, Z. Tümer, N. Tommerup, 2004, Journal of Medical Genetics.

Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes.

F. Hildebrandt, E. Otto, H. Nothwang, 2000, Genomics.