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Vera Kalscheuer
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50
Ropers, Hans-Hilger
17
Menzel, Corinna
16
Tommerup, Niels
14
Tzschach, Andreas
13
Hoeltzenbein, Maria
12
Moraine, Claude
11
Ullmann, Reinhard
11
Chelly, Jamel
11
Fryns, Jean-Pierre
8
Erdogan, Fikret
8
van Bokhoven, Hans
8
Schweiger, Susann
7
Sperling, Karl
7
Tümer, Zeynep
6
Raynaud, Martine
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All Publications
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2009: Tzschach A; Ramel C; Kron A; Seipel B; Wüster C; Cordes U; Liehr T; Hoeltzenbein M; Menzel C; Ropers H-H; Ullmann R; Kalscheuer V; Decker J; Steinberger D
Hypergonadotropic hypogonadism in a patient with inv ins (2;4).
International journal of andrology 2009;32(3):226-30.
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2009: Neumann Thomas E; Allanson Judith; Kavamura Ines; Kerr Bronwyn; Neri Giovanni; Noonan Jacqueline; Cordeddu Viviana; Gibson Kate; Tzschach Andreas; Krüger Gabriele; Hoeltzenbein Maria; Goecke Timm O; Kehl Hans Gerd; Albrecht Beate; Luczak Klaudiusz; Sasiadek Maria M; Musante Luciana; Laurie Rohan; Peters Hartmut; Tartaglia Marco; Zenker Martin; Kalscheuer Vera
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
European journal of human genetics : EJHG 2009;17(4):420-5.
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2009: Kalscheuer Vera M; Musante Luciana; Fang Cheng; Hoffmann Kirsten; Fuchs Celine; Carta Eloisa; Deas Emma; Venkateswarlu Kanamarlapudi; Menzel Corinna; Ullmann Reinhard; Tommerup Niels; Dalprà Leda; Tzschach Andreas; Selicorni Angelo; Lüscher Bernhard; Ropers Hans-Hilger; Harvey Kirsten; Harvey Robert J
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Human mutation 2009;30(1):61-8.
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2008: Schell-Apacik Chayim Can; Wagner Kristina; Bihler Moritz; Ertl-Wagner Birgit; Heinrich Uwe; Klopocki Eva; Kalscheuer Vera M; Muenke Maximilian; von Voss Hubertus
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
American journal of medical genetics. Part A 2008;146A(19):2501-11.
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2008: Kalscheuer Vera M; Feenstra Ilse; Van Ravenswaaij-Arts Conny M A; Smeets Dominique F C M; Menzel Corinna; Ullmann Reinhard; Musante Luciana; Ropers Hans-Hilger
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
American journal of medical genetics. Part A 2008;146A(16):2053-9.
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2008: Chen Wei; Kalscheuer Vera; Tzschach Andreas; Menzel Corinna; Ullmann Reinhard; Schulz Marcel Holger; Erdogan Fikret; Li Na; Kijas Zofia; Arkesteijn Ger; Pajares Isidora Lopez; Goetz-Sothmann Margret; Heinrich Uwe; Rost Imma; Dufke Andreas; Grasshoff Ute; Glaeser Birgitta; Vingron Martin; Ropers H Hilger
Mapping translocation breakpoints by next-generation sequencing.
Genome research 2008;18(7):1143-9.
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2008: Møller Rikke S; Kübart Sabine; Hoeltzenbein Maria; Heye Babett; Vogel Ida; Hansen Christian P; Menzel Corinna; Ullmann Reinhard; Tommerup Niels; Ropers Hans-Hilger; Tümer Zeynep; Kalscheuer Vera M
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.
American journal of human genetics 2008;82(5):1165-70.
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2008: Tzschach Andreas; Kelbova Christina; Weidensee Sabine; Peters Hartmut; Ropers Hans-Hilger; Ullmann Reinhard; Erdogan Fikret; Jurkatis Jan; Menzel Corinna; Kalscheuer Vera; Demuth Stephanie
Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).
Ophthalmic genetics 2008;29(1):37-40.
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2008: Walczak-Sztulpa Joanna; Wisniewska Marzena; Latos-Bielenska Anna; Linné Maja; Kelbova Christina; Belitz Britta; Pfeiffer Lutz; Kalscheuer Vera; Erdogan Fikret; Kuss Andreas W; Ropers Hans-Hilger; Ullmann Reinhard; Tzschach Andreas
Chromosome deletions in 13q33-34: report of four patients and review of the literature.
American journal of medical genetics. Part A 2008;146(3):337-42.
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2007: Kalscheuer Vera M; FitzPatrick David; Tommerup Niels; Bugge Merete; Niebuhr Erik; Neumann Luitgard M; Tzschach Andreas; Shoichet Sarah A; Menzel Corinna; Erdogan Fikret; Arkesteijn Ger; Ropers Hans-Hilger; Ullmann Reinhard
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
Human genetics 2007;121(3-4):501-9.
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2007: Tzschach Andreas; Menzel Corinna; Erdogan Fikret; Schubert Marei; Hoeltzenbein Maria; Barbi Gotthold; Petzenhauser Christine; Ropers Hans-Hilger; Ullmann Reinhard; Kalscheuer Vera
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
American journal of medical genetics. Part A 2007;143(4):333-7.
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2007: Erdogan Fikret; Ullmann Reinhard; Chen Wei; Schubert Marei; Adolph Sabine; Hultschig Claus; Kalscheuer Vera; Ropers Hans-Hilger; Spaich Christiane; Tzschach Andreas
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.
American journal of medical genetics. Part A 2007;143(2):172-8.
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2006: Tzschach Andreas; Hoeltzenbein Maria; Hoffmann Kirsten; Menzel Corinna; Beyer Alexander; Ocker Volker; Wurster Goetz; Raynaud Martine; Ropers Hans-Hilger; Kalscheuer Vera; Heilbronner Helmut
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.
European journal of human genetics : EJHG 2006;14(12):1317-20.
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2006: Bartsch Oliver; Rasi Sasan; Delicado Alicia; Dyack Sarah; Neumann Luitgard M; Seemanová Eva; Volleth Marianne; Haaf Thomas; Kalscheuer Vera M
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.
Human genetics 2006;120(2):179-86.
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2006: Gamerdinger Ulrike; Bosse Kristin; Eggermann Thomas; Kalscheuer Vera; Schwanitz Gesa; Engels Hartmut
First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.
European journal of medical genetics 2006;49(3):225-34.
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2006: Piovani Giovanna; Borsani Giuseppe; Bertini Valeria; Kalscheuer Vera M; Viertel Petra; Bellotti Daniela; Valseriati Daniela; Barlati Sergio
Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.
European journal of medical genetics 2006;49(3):215-23.
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2006: Gilling Mette; Dullinger Jörn S; Gesk Stefan; Metzke-Heidemann Simone; Siebert Reiner; Meyer Thomas; Brondum-Nielsen Karen; Tommerup Niels; Ropers Hans-Hilger; Tumer Zeynep; Kalscheuer Vera M; Thomas N Simon
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
American journal of human genetics 2006;78(5):878-83.
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2006: Tzschach Andreas; Krause-Plonka Ines; Menzel Corinna; Knoblauch Andreas; Toennies Holger; Hoeltzenbein Maria; Radke Michael; Ropers Hans-Hilger; Kalscheuer Vera
Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.
American journal of medical genetics. Part A 2006;140(10):1108-10.
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2006: Cossée Mireille; Demeer Bénédicte; Blanchet Patricia; Echenne Bernard; Singh Deepika; Hagens Olivier; Antin Manuela; Finck Sonja; Vallee Louis; Dollfus Hélène; Hegde Sridevi; Springell Kelly; Thelma B K; Woods Geoffrey; Kalscheuer Vera; Mandel Jean-Louis
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
European journal of human genetics : EJHG 2006;14(4):418-25.
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2006: Schubbert Suzanne; Zenker Martin; Rowe Sara L; Böll Silke; Klein Cornelia; Bollag Gideon; van der Burgt Ineke; Musante Luciana; Kalscheuer Vera; Wehner Lars-Erik; Nguyen Hoa; West Brian; Zhang Kam Y J; Sistermans Erik; Rauch Anita; Niemeyer Charlotte M; Shannon Kevin; Kratz Christian P
Germline KRAS mutations cause Noonan syndrome.
Nature genetics 2006;38(3):331-6.
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2006: Tzschach Andreas; Krause-Plonka Ines; Menzel Corinna; Kalscheuer Vera; Toennies Holger; Scherthan Harry; Knoblauch Andreas; Radke Michael; Ropers Hans-Hilger; Hoeltzenbein Maria
Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.
American journal of medical genetics. Part A 2006;140(5):496-502.
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2006: Tzschach A; Hoffmann K; Hoeltzenbein M; Bache I; Tommerup N; Bommer C; Körner H; Kalscheuer V; Ropers H H
Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris.
Clinical genetics 2006;69(2):189-93.
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2006: Dlugaszewska B; Silahtaroglu A; Menzel C; Kübart S; Cohen M; Mundlos S; Tümer Z; Kjaer K; Friedrich U; Ropers H-H; Tommerup N; Neitzel H; Kalscheuer V M
Breakpoints around the HOXD cluster result in various limb malformations.
Journal of medical genetics 2006;43(2):111-8.
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2006: Hagens Olivier; Minina Eleonora; Schweiger Susann; Ropers Hans-Hilger; Kalscheuer Vera
Characterization of FBX25, encoding a novel brain-expressed F-box protein.
Biochimica et biophysica acta 2006;1760(1):110-8.
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2006: Hagens Olivier; Dubos Aline; Abidi Fatima; Barbi Gotthold; Van Zutven Laura; Hoeltzenbein Maria; Tommerup Niels; Moraine Claude; Fryns Jean-Pierre; Chelly Jamel; van Bokhoven Hans; Gécz Jozef; Dollfus Hélène; Ropers Hans-Hilger; Schwartz Charles E; de Cassia Stocco Dos Santos Rita; Kalscheuer Vera; Hanauer André
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
Human genetics 2006;118(5):578-90.
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2006: Shoichet Sarah A; Duprez Laurence; Hagens Olivier; Waetzig Vicki; Menzel Corinna; Herdegen Thomas; Schweiger Susann; Dan Bernard; Vamos Esther; Ropers Hans-Hilger; Kalscheuer Vera M
Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.
Human genetics 2006;118(5):559-67.
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2006: Erdogan F; Chen W; Kirchhoff M; Kalscheuer V M; Hultschig C; Müller I; Schulz R; Menzel C; Bryndorf T; Ropers H-H; Ullmann R
Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.
Cytogenetic and genome research 2006;115(3-4):247-53.
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2006: Hagens Olivier; Ballabio Andrea; Kalscheuer Vera; Kraehenbuhl Jean-Pierre; Schiaffino M Vittoria; Smith Peter; Staub Olivier; Hildebrand Jeff; Wallingford John B
A new standard nomenclature for proteins related to Apx and Shroom.
BMC cell biology 2006;7():18.
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2005: Zahn Susanne; Ehrbrecht Antje; Bosse Kristin; Kalscheuer Vera; Propping Peter; Schwanitz Gesa; Albrecht Beate; Engels Hartmut
Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1).
American journal of medical genetics. Part A 2005;139(1):19-24.
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2005: Shoichet Sarah A; Kunde Stella-Amrei; Viertel Petra; Schell-Apacik Can; von Voss Hubertus; Tommerup Niels; Ropers Hans-Hilger; Kalscheuer Vera M
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
Human genetics 2005;117(6):536-44.
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2005: Borg Isabella; Freude Kristine; Kübart Sabine; Hoffmann Kirsten; Menzel Corinna; Laccone Franco; Firth Helen; Ferguson-Smith Malcolm A; Tommerup Niels; Ropers Hans-Hilger; Sargan David; Kalscheuer Vera M
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.
European journal of human genetics : EJHG 2005;13(8):921-7.
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2005: Backsch Claudia; Rudolph Bettina; Kühne-Heid Rosemarie; Kalscheuer Vera; Bartsch Oliver; Jansen Lars; Beer Katrin; Meyer Birgit; Schneider Achim; Dürst Matthias
A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis.
Genes, chromosomes & cancer 2005;43(3):260-72.
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2005: Tümer Z; Henriksen A M; Bache I; Brixen K; Kalscheuer V; Illum N; Rasmussen K; Larsen L A; Tommerup N
Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome.
American journal of medical genetics. Part A 2005;135(3):339-41.
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2005: Jensen Lars Riff; Amende Marion; Gurok Ulf; Moser Bettina; Gimmel Verena; Tzschach Andreas; Janecke Andreas R; Tariverdian Gholamali; Chelly Jamel; Fryns Jean-Pierre; Van Esch Hilde; Kleefstra Tjitske; Hamel Ben; Moraine Claude; Gecz Jozef; Turner Gillian; Reinhardt Richard; Kalscheuer Vera M; Ropers Hans-Hilger; Lenzner Steffen
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
American journal of human genetics 2005;76(2):227-36.
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2005: Foerster John; Nolte Ilja; Junge Judith; Bruinenberg Marcel; Schweiger Susann; Spaar Katja; van der Steege Gerrit; Ehlert Claudia; Mulder Marcel; Kalscheuer Vera; Blumenthal-Barby Elisa; Winter Jennifer; Seeman Petra; Ständer Markward; Sterry Wolfram; Te Meerman Gerard
Haplotype sharing analysis identifies a retroviral dUTPase as candidate susceptibility gene for psoriasis.
The Journal of investigative dermatology 2005;124(1):99-102.
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2005: So Joyce; Suckow Vanessa; Kijas Zofia; Kalscheuer Vera; Moser Bettina; Winter Jennifer; Baars Marieke; Firth Helen; Lunt Peter; Hamel Ben; Meinecke Peter; Moraine Claude; Odent Sylvie; Schinzel Albert; van der Smagt J J; Devriendt Koen; Albrecht Beate; Gillessen-Kaesbach Gabriele; van der Burgt Ineke; Petrij Fred; Faivre Laurence; McGaughran Julie; McKenzie Fiona; Opitz John M; Cox Timothy; Schweiger Susann
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
American journal of medical genetics. Part A 2005;132A(1):1-7.
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2004: Tao Jiong; Van Esch Hilde; Hagedorn-Greiwe M; Hoffmann Kirsten; Moser Bettina; Raynaud Martine; Sperner Jürgen; Fryns Jean-Pierre; Schwinger Eberhard; Gécz Jozef; Ropers Hans-Hilger; Kalscheuer Vera M
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
American journal of human genetics 2004;75(6):1149-54.
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2004: Tümer Z; Harboe T L; Blennow E; Kalscheuer V M; Tommerup N; Brøndum-Nielsen K
Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.
American journal of medical genetics. Part A 2004;130A(4):340-4.
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2004: Walter Sabine; Sandig Klaus; Hinkel Georg K; Mitulla Beate; Ounap Katrin; Sims Giles; Sitska Mari; Utermann Barbara; Viertel Petra; Kalscheuer Vera; Bartsch Oliver
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.
American journal of medical genetics. Part A 2004;128A(4):364-73.
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2004: Freude Kristine; Hoffmann Kirsten; Jensen Lars-Riff; Delatycki Martin B; des Portes Vincent; Moser Bettina; Hamel Ben; van Bokhoven Hans; Moraine Claude; Fryns Jean-Pierre; Chelly Jamel; Gécz Jozef; Lenzner Steffen; Kalscheuer Vera M; Ropers Hans-Hilger
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
American journal of human genetics 2004;75(2):305-9.
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2004: Musante Luciana; Bartsch Oliver; Ropers Hans-Hilger; Kalscheuer Vera M
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.
Gene 2004;332():119-27.
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2004: Kleefstra T; Yntema H G; Oudakker A R; Banning M J G; Kalscheuer V M; Chelly J; Moraine C; Ropers H-H; Fryns J-P; Janssen I M; Sistermans E A; Nillesen W N; de Vries L B A; Hamel B C J; van Bokhoven H
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
Journal of medical genetics 2004;41(5):394-9.
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2004: Winter Jennifer; Lehmann Tanja; Krauss Sybille; Trockenbacher Alexander; Kijas Zofia; Foerster John; Suckow Vanessa; Yaspo Marie-Laure; Kulozik Andreas; Kalscheuer Vera; Schneider Rainer; Schweiger Susann
Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing.
Human genetics 2004;114(6):541-52.
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2004: Zechner U; Shi W; Hemberger M; Himmelbauer H; Otto S; Orth A; Kalscheuer V; Fischer U; Elango R; Reis A; Vogel W; Ropers H; Rüschendorf F; Fundele R
Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus.
Journal of evolutionary biology 2004;17(2):453-60.
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2004: Hertz J M; Sivertsen B; Silahtaroglu A; Bugge M; Kalscheuer V; Weber A; Wirth J; Ropers H-H; Tommerup N; Tümer Z
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.
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2004: Foerster John; Nolte Ilja; Schweiger Susann; Ehlert Claudia; Bruinenberg Marcel; Spaar Katja; van der Steege Gerrit; Mulder Marcel; Kalscheuer Vera; Moser Bettina; Kijas Zofia; Seeman Petra; Ständer Markward; Sterry Wolfram; te Meerman Gerard
Evaluation of the IRF-2 gene as a candidate for PSORS3.
The Journal of investigative dermatology 2004;122(1):61-4.
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2004: Prudlo Johannes; Alber Burkhard; Kalscheuer Vera M; Roemer Klaus; Martin Thomas; Dullinger Joern; Sittinger Helmut; Niemann Stephan; Heutink Peter; Ludolph Albert C; Ropers Hilger H; Zang Klaus; Meyer Thomas
Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.
Annals of neurology 2004;55(1):134-8.
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2004: Midro Alina T; Panasiuk Barbara; Tümer Zeynep; Stankiewicz Pawel; Silahtaroglu Asli; Lupski James R; Zemanova Zuzana; Stasiewicz-Jarocka Beata; Hubert Ewa; Tarasów Eugeniusz; Famulski Waldemar; Zadrozna-Tolwinska Barbara; Wasilewska Ewa; Kirchhoff Marie; Kalscheuer Vera; Michalova Kyra; Tommerup Niels
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
American journal of medical genetics. Part A 2004;124A(2):179-91.
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2003: Shoichet Sarah A; Hoffmann Kirsten; Menzel Corinna; Trautmann Udo; Moser Bettina; Hoeltzenbein Maria; Echenne Bernard; Partington Michael; Van Bokhoven Hans; Moraine Claude; Fryns Jean-Pierre; Chelly Jamel; Rott Hans-Dieter; Ropers Hans-Hilger; Kalscheuer Vera M
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
American journal of human genetics 2003;73(6):1341-54.
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2003: Gomot Marie; Gendrot Chantal; Verloes Alain; Raynaud Martine; David Albert; Yntema Helger G; Dessay Sabine; Kalscheuer Vera; Frints Suzanne; Couvert Philippe; Briault Sylvain; Blesson Sophie; Toutain Annick; Chelly Jamel; Desportes Vincent; Moraine Claude
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
American journal of medical genetics. Part A 2003;123A(2):129-39.
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2003: Engels Hartmut; Ehrbrecht Antje; Zahn Susanne; Bosse Kristin; Vrolijk Hans; White Stefan; Kalscheuer Vera; Hoovers Jan M N; Schwanitz Gesa; Propping Peter; Tanke Hans J; Wiegant Joop; Raap Anton K
Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.
European journal of human genetics : EJHG 2003;11(9):643-51.
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2003: Ropers Hans-Hilger; Hoeltzenbein Maria; Kalscheuer Vera; Yntema Helger; Hamel Ben; Fryns Jean-Pierre; Chelly Jamel; Partington Michael; Gecz Jozef; Moraine Claude
Nonsyndromic X-linked mental retardation: where are the missing mutations?
Trends in genetics : TIG 2003;19(6):316-20.
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2003: Frints Suzanna G M; Jun Lin; Fryns Jean-Pierre; Devriendt Koen; Teulingkx Rudi; Van den Berghe Lut; De Vos Bernice; Borghgraef Martine; Chelly Jamel; Des Portes Vincent; Van Bokhoven Hans; Hamel Ben; Ropers Hans-Hilger; Kalscheuer Vera; Raynaud Martine; Moraine Claude; Marynen Peter; Froyen Guy
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.
American journal of medical genetics. Part A 2003;119A(3):367-74.
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2003: Kalscheuer Vera M; Tao Jiong; Donnelly Andrew; Hollway Georgina; Schwinger Eberhard; Kübart Sabine; Menzel Corinna; Hoeltzenbein Maria; Tommerup Niels; Eyre Helen; Harbord Michael; Haan Eric; Sutherland Grant R; Ropers Hans-Hilger; Gécz Jozef
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
American journal of human genetics 2003;72(6):1401-11.
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2003: Morava Eva; Bartsch Oliver; Czakó Márta; Frensel Arleta; Kalscheuer Vera; Kárteszi Judit; Kosztolányi György
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia.
Clinical dysmorphology 2003;12(2):123-7.
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2003: Meyer T; Alber B; Roemer K; Martin T; Kalscheuer V M; Göttert E; Zang K D; Ludolph A C; Ropers H-H; Prudlo J
High rate of constitutional chromosomal rearrangements in apparently sporadic ALS.
Neurology 2003;60(8):1348-50.
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2003: Horn Denise; Neitzel Heidemarie; Tönnies Holger; Kalscheuer Vera; Kunze Jürgen; Hinkel Georg Klaus; Bartsch Oliver
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.
American journal of medical genetics. Part A 2003;117A(3):236-44.
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2003: Winter Jennifer; Lehmann Tanja; Suckow Vanessa; Kijas Zofia; Kulozik Andreas; Kalscheuer Vera; Hamel Ben; Devriendt Koen; Opitz John; Lenzner Steffen; Ropers Hans-Hilger; Schweiger Susann
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Human genetics 2003;112(3):249-54.
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2003: Musante Luciana; Kehl Hans G; Majewski Frank; Meinecke Peter; Schweiger Susann; Gillessen-Kaesbach Gabriele; Wieczorek Dagmar; Hinkel Georg K; Tinschert Sigrid; Hoeltzenbein Maria; Ropers Hans-Hilger; Kalscheuer Vera M
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
European journal of human genetics : EJHG 2003;11(2):201-6.
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2003: Grabowski Monika; Zimprich Alexander; Lorenz-Depiereux Bettina; Kalscheuer Vera; Asmus Friedrich; Gasser Thomas; Meitinger Thomas; Strom Tim M
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.
European journal of human genetics : EJHG 2003;11(2):138-44.
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2003: Shultz Leonard D; Lyons Bonnie L; Burzenski Lisa M; Gott Bruce; Samuels Rebecca; Schweitzer Peter A; Dreger Christine; Herrmann Harald; Kalscheuer Vera; Olins Ada L; Olins Donald E; Sperling Karl; Hoffmann Katrin
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.
Human molecular genetics 2003;12(1):61-9.
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2002: Laumonnier Frédéric; Ronce Nathalie; Hamel Ben C J; Thomas Paul; Lespinasse James; Raynaud Martine; Paringaux Christine; Van Bokhoven Hans; Kalscheuer Vera; Fryns Jean-Pierre; Chelly Jamel; Moraine Claude; Briault Sylvain
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
American journal of human genetics 2002;71(6):1450-5.
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2002: Borg I; Squire M; Menzel C; Stout K; Morgan D; Willatt L; O'Brien P C M; Ferguson-Smith M A; Ropers H H; Tommerup N; Kalscheuer V M; Sargan D R
A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation.
Journal of medical genetics 2002;39(6):391-9.
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2002: Tümer Zeynep; Croucher Peter J P; Jensen Lars Riff; Hampe Jochen; Hansen Claus; Kalscheuer Vera; Ropers Hans Hilger; Tommerup Niels; Schreiber Stefan
Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2).
Gene 2002;288(1-2):179-85.
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2002: Bienvenu Thierry; Poirier Karine; Friocourt Gaelle; Bahi Nadia; Beaumont Delphine; Fauchereau Fabien; Ben Jeema Lamia; Zemni Ramzi; Vinet Marie-Claude; Francis Fiona; Couvert Philippe; Gomot Marie; Moraine Claude; van Bokhoven Hans; Kalscheuer Vera; Frints Suzanne; Gecz Josef; Ohzaki Kanae; Chaabouni Habiba; Fryns Jean-Pierre; Desportes Vincent; Beldjord Cherif; Chelly Jamel
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Human molecular genetics 2002;11(8):981-91.
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2002: Yntema Helger G; Oudakker Astrid R; Kleefstra Tjitske; Hamel Ben C J; van Bokhoven Hans; Chelly Jamel; Kalscheuer Vera M; Fryns Jean-Pierre; Raynaud Martine; Moizard Marie-Pierre; Moraine Claude
In-frame deletion in MECP2 causes mild nonspecific mental retardation.
American journal of medical genetics 2002;107(1):81-3.
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2002: Neitzel H; Kalscheuer V; Singh A P; Henschel S; Sperling K
Copy and paste: the impact of a new non-L1 retroposon on the gonosomal heterochromatin of Microtus agrestis.
Cytogenetic and genome research 2002;96(1-4):179-85.
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2001: Brunner B; Hornung U; Shan Z; Nanda I; Kondo M; Zend-Ajusch E; Haaf T; Ropers H H; Shima A; Schmid M; Kalscheuer V M; Schartl M
Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1.
Genomics 2001;77(1-2):8-17.
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2001: Mergenthaler S; Hitchins M P; Blagitko-Dorfs N; Monk D; Wollmann H A; Ranke M B; Ropers H H; Apostolidou S; Stanier P; Preece M A; Eggermann T; Kalscheuer V M; Moore G E
Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression?
American journal of human genetics 2001;68(2):543-5.
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2001: Sudbrak R; Wieczorek G; Nuber U A; Mann W; Kirchner R; Erdogan F; Brown C J; Wöhrle D; Sterk P; Kalscheuer V M; Berger W; Lehrach H; Ropers H H
X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications.
Human molecular genetics 2001;10(1):77-83.
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2001: Mergenthaler S; Sharp A; Ranke M B; Kalscheuer V M; Wollmann H A; Eggermann T
Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13.
Genetic testing 2001;5(3):261-6.
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2001: Volleth M; Stumm M; Mohnike K; Kalscheuer V M; Jakubiczka S; Wieacker P
Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy.
Human heredity 2001;52(3):177-82.
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2000: Mergenthaler S; Blagitko-Dorfs N; Wollmann H A; Ranke M B; Ropers H H; Kalscheuer V M; Eggermann T
Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the gamma 2-COP (COPG2) gene by screening of Silver-Russell syndrome patients.
Human mutation 2000;16(1):96.
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2000: Blagitko N; Mergenthaler S; Schulz U; Wollmann H A; Craigen W; Eggermann T; Ropers H H; Kalscheuer V M
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion.
Human molecular genetics 2000;9(11):1587-95.
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2000: Singh A; Henschel S; Sperling K; Kalscheuer V; Neitzel H
Differences in the meiotic pairing behavior of gonosomal heterochromatin between female and male Microtus agrestis: implications for the mechanism of heterochromatin amplification on the X and Y.
Cytogenetics and cell genetics 2000;91(1-4):253-60.
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1999: Blagitko N; Schulz U; Schinzel A A; Ropers H H; Kalscheuer V M
gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome.
Human molecular genetics 1999;8(13):2387-96.
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1999: Krause R; Hemberger M; Himmelbauer H; Kalscheuer V; Fundele R H
Identification and characterization of G90, a novel mouse RNA that lacks an extensive open reading frame.
Gene 1999;232(1):35-42.
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1999: Brunner B; Todt T; Lenzner S; Stout K; Schulz U; Ropers H H; Kalscheuer V M
Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1.
Genome research 1999;9(5):437-48.
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1998: Riesewijk A M; Xu Y Q; Schepens M T; Mariman E M; Polychronakos C; Ropers H H; Kalscheuer V M
Absence of an obvious molecular imprinting mechanism in a human fetus with monoallelic IGF2R expression.
Biochemical and biophysical research communications 1998;245(1):272-7.
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1998: Riesewijk A M; Blagitko N; Schinzel A A; Hu L; Schulz U; Hamel B C; Ropers H H; Kalscheuer V M
Evidence against a major role of PEG1/MEST in Silver-Russell syndrome.
European journal of human genetics : EJHG 1998;6(2):114-20.
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1998: Neitzel H; Kalscheuer V; Henschel S; Digweed M; Sperling K
Beta-heterochromatin in mammals: evidence from studies in Microtus agrestis based on the extensive accumulation of L1 and non-L1 retroposons in the heterochromatin.
Cytogenetics and cell genetics 1998;80(1-4):165-72.
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1997: Riesewijk A M; Hu L; Schulz U; Tariverdian G; Höglund P; Kere J; Ropers H H; Kalscheuer V M
Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses.
Genomics 1997;42(2):236-44.
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1996: Riesewijk A M; Schepens M T; Mariman E M; Ropers H H; Kalscheuer V M
The MAS proto-oncogene is not imprinted in humans.
Genomics 1996;35(2):380-2.
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1996: Riesewijk A M; Schepens M T; Welch T R; van den Berg-Loonen E M; Mariman E M; Ropers H H; Kalscheuer V M
Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription.
Genomics 1996;31(2):158-66.
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1996: Kalscheuer V; Singh A P; Nanda I; Sperling K; Neitzel H
Evolution of the gonosomal heterochromatin of Microtus agrestis: rapid amplification of a large, multimeric, repeat unit containing a 3.0-kb (GATA)11-positive, middle repetitive element.
Cytogenetics and cell genetics 1996;73(3):171-8.
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1994: van Gurp R J; Oosterhuis J W; Kalscheuer V; Mariman E C; Looijenga L H
Biallelic expression of the H19 and IGF2 genes in human testicular germ cell tumors.
Journal of the National Cancer Institute 1994;86(14):1070-5.
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1993: Kalscheuer V M; Mariman E C; Schepens M T; Rehder H; Ropers H H
The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans.
Nature genetics 1993;5(1):74-8.
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1988: Kerem B S; Kottusch-Geiseler V; Kalscheuer V; Goitein R; Sperling K; Marcus M
DNase I sensitivity of Microtus agrestis active, inactive and reactivated X chromosomes in mouse-Microtus cell hybrids.
Chromosoma 1988;96(3):227-30.
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1987: Sperling K; Kalscheuer V; Neitzel H
Transcriptional activity of constitutive heterochromatin in the mammal Microtus agrestis (Rodentia, Cricetidae).
Experimental cell research 1987;173(2):463-72.
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