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Jutta Wirth

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Daniela Ehling; Ingo Kennerknecht; Annelore Junge; Bettina Prager; Rita Exeler; Beate Behre; Jürgen Horst; Thomas Schmitt-John; Oliver Bartsch; Jutta Wirth
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies.
Birgitta Gläser; K Shirneshan; K Bink; Jutta Wirth; Hildegard Kehrer-Sawatzki; U Bartz; Barbara Zoll; Stefan K Bohlander
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.
Jens Michael Hertz; B Sivertsen; Asli N Silahtaroglu; Merete Bugge; Vera Kalscheuer; A Weber; Jutta Wirth; Hans-Hilger Ropers; Niels Tommerup; Zeynep Tümer
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13).

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All Publications

2004: Daniela Ehling; Ingo Kennerknecht; Annelore Junge; Bettina Prager; Rita Exeler; Beate Behre; Jürgen Horst; Thomas Schmitt-John; Oliver Bartsch; Jutta Wirth
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies.
American journal of medical genetics. Part A 2004;131(3):265-72.
2004: Birgitta Gläser; K Shirneshan; K Bink; Jutta Wirth; Hildegard Kehrer-Sawatzki; U Bartz; Barbara Zoll; Stefan K Bohlander
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.
American journal of medical genetics. Part A 2004;126A(3):229-36.
2004: Jens Michael Hertz; B Sivertsen; Asli N Silahtaroglu; Merete Bugge; Vera Kalscheuer; A Weber; Jutta Wirth; Hans-Hilger Ropers; Niels Tommerup; Zeynep Tümer
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13).
Journal of medical genetics 2004;41(3):e25.
2002: Gotthold Barbi; Eva Rossier; S Vossbeck; Helmut D Hummler; D Lang; Felix Flock; R Terinde; Jutta Wirth; Walther Vogel; Hildegard Kehrer-Sawatzki
Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.
Journal of medical genetics 2002;39(2):E6.
2001: Pawel Stankiewicz; Izabela Brozek; Zofia Hélias-Rodzewicz; Jolanta Wierzba; Jacek Pilch; Ewa Bocian; Anna Balcerska; Agnieszka Wozniak; I Kardaś; Jutta Wirth; Tadeusz Mazurczak; Janusz Limon
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
American journal of medical genetics 2001;101(3):226-39.
2001: Hans Gerd Nothwang; H G Kim; J Aoki; M Geisterfer; Sabine Kübart; R D Wegner; A van Moers; L K Ashworth; Thomas Haaf; J Bell; H Arai; Niels Tommerup; Hans-Hilger Ropers; Jutta Wirth
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.
Human molecular genetics 2001;10(8):797-806.
2001: G Borck; Jutta Wirth; T Hardt; Holger Tönnies; Karen Brøndum-Nielsen; Merete Bugge; Niels Tommerup; Hans Gerd Nothwang; Hans-Hilger Ropers; Thomas Haaf
Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome.
Journal of medical genetics 2001;38(2):117-21.
2001: G Zhu; Gabriele Gillessen-Kaesbach; Jutta Wirth; Eberhard Passarge; Oliver Bartsch
Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2).
American journal of medical genetics 2001;98(4):317-9.
2001: Jutta Wirth; E Back; Alexander Hüttenhofer; Hans Gerd Nothwang; Christina Lich; Stephanie Gross; Corinna Menzel; A Schinzel; P Kioschis; Niels Tommerup; Hans-Hilger Ropers; Bernhard Horsthemke; Karin Buiting
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.
Human molecular genetics 2001;10(3):201-10.
2000: Maria Kirchhoff; H Rose; J Maahr; Tommy Gerdes; Merete Bugge; Niels Tommerup; Zeynep Tümer; James Lespinasse; Peter Koch Jensen; Jutta Wirth; Claes Lundsteen
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.
European journal of human genetics : EJHG 2000;8(9):661-8.
2000: Martin Vollmer; M Kremer; Rainer G Ruf; S Miot; Hans Gerd Nothwang; Jutta Wirth; Edgar Otto; R Krapf; Friedhelm Hildebrandt
Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes.
Genomics 2000;68(2):127-35.
2000: Anita Heller; Jörg Seidel; Axel Hübler; Heike Starke; Volkmar Beensen; Gabriele Senger; M Rocchi; Jutta Wirth; Ilse Chudoba; Uwe Claussen; Thomas Liehr
Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review.
Journal of medical genetics 2000;37(7):529-32.
2000: Hans Gerd Nothwang; A Schröer; Silvère M van der Maarel; Sabine Kübart; S Schneider; L Riesselmann; Corinna Menzel; B Hinzmann; D Vogt; A Rosenthal; J Fryns; Niels Tommerup; Thomas Haaf; Hans-Hilger Ropers; Jutta Wirth
Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations.
Cytogenetics and cell genetics 2000;90(1-2):126-33.
2000: M P Scheer; Silvère M van der Maarel; Sabine Kübart; A Schulz; Jutta Wirth; S Schweiger; Hans-Hilger Ropers; Hans Gerd Nothwang
DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner.
Genomics 2000;63(1):123-32.
1999: Markus Stumm; A Koch; Peter Wieacker; C Phillip; F Steinbach; Ernst Peter Allhoff; Peter Buhtz; H Walter; Holger Tönnies; Jutta Wirth
Partial monosomy 2p as the single chromosomal anomaly in a case of renal metanephric adenoma.
Cancer genetics and cytogenetics 1999;115(1):82-5.
1999: Jutta Wirth; Hans Gerd Nothwang; Silvère M van der Maarel; Corinna Menzel; G Borck; I Lopez-Pajares; Karen Brøndum-Nielsen; Niels Tommerup; Merete Bugge; Hans-Hilger Ropers; Thomas Haaf
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.
Journal of medical genetics 1999;36(4):271-8.
1999: Asli N Silahtaroglu; Frans A Hol; Peter Koch Jensen; Martin Erdel; Hans-Christoph Duba; MP Geurds; Nine V A M Knoers; Edwin C M Mariman; Zeynep Tümer; Gerd Utermann; Jutta Wirth; Merete Bugge; Niels Tommerup
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.
European journal of human genetics : EJHG 1999;7(1):68-76.
1999: X Caubit; R Thangarajah; Thomas Theil; Jutta Wirth; Hans Gerd Nothwang; Ulrich Rüther; Stefan Krauss
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.
Developmental dynamics : an official publication of the American Association of Anatomists 1999;214(1):66-80.
1998: Asli N Silahtaroglu; Seniha Hacihanefioglu; GS Güven; Asim Cenani; Jutta Wirth; Niels Tommerup; Zeynep Tümer
Not para-, not peri-, but centric inversion of chromosome 12.
Journal of medical genetics 1998;35(8):682-4.
1998: Hans-Christoph Duba; Martin Erdel; Jürgen Löffler; Jutta Wirth; Barbara Utermann; Gerd Utermann
Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier.
European journal of human genetics : EJHG 1998;6(1):75-9.
1997: Hans Gerd Nothwang; Jutta Wirth; B Brandl; Thomas Haaf; K B Nielsen; Niels Tommerup; Hans-Hilger Ropers
Identification of positional candidates for neurological disorders on chromsome 13q14-->q22.
Cytogenetics and cell genetics 1997;79(3-4):293-7.
1997: K Kingsley; Jutta Wirth; Silvère M van der Maarel; Susanne Freier; Hans-Hilger Ropers; Thomas Haaf
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.
Cytogenetics and cell genetics 1997;78(1):12-9.
1997: T Wagner; Niels Tommerup; Jutta Wirth; H Leffers; J Zimmer; E Back; J Weissenbach; Gerd Scherer
A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3.
Cytogenetics and cell genetics 1997;76(3-4):172-5.
1996: Jutta Wirth; T Wagner; J Meyer; RA Pfeiffer; H U Tietze; Werner Schempp; Gerd Scherer
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.
Human genetics 1996;97(2):186-93.
1996: J Meyer; Jutta Wirth; M Held; Werner Schempp; Gerd Scherer
SOX20, a new member of the SOX gene family, is located on chromosome 17p13.
Cytogenetics and cell genetics 1996;72(2-3):246-9.
1994: T Wagner; Jutta Wirth; J Meyer; Bernhard Zabel; M Held; J Zimmer; JJ Pasantes; Franca Dagna Bricarelli; J Keutel; E Hustert; U Wolf; N Tommerup; W Schempp; G Scherer
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.
Cell 1994;79(6):1111-20.