A Balanced Reciprocal Translocation T (X;20) in A Girl with Seizures and Intellectual Disability Disrupting ARHGEF9

Por Dutta, Usha R, Pidugu, Vijaya Kumar, Kalscheuer, Vera M, Dalal, Ashwin B
Publicado em 2014

Genomic Structure and Comparative Analysis of Nine Fugu Genes: Conservation of Synteny with Human Chromosome Xp22.2–p22.1

Por Brunner, Bodo, Todt, Tilman, Lenzner, Steffen, Stout, Karen, Schulz, Ute, Ropers, Hans-Hilger, Kalscheuer, Vera M.
Publicado em 1999

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature

Por Vona, Barbara, Nanda, Indrajit, Neuner, Cordula, Schröder, Jörg, Kalscheuer, Vera M, Shehata-Dieler, Wafaa, Haaf, Thomas
Publicado em 2014

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction

Por Carroll, Renée, Kumar, Raman, Shaw, Marie, Slee, Jennie, Kalscheuer, Vera M, Corbett, Mark A, Gecz, Jozef
Publicado no Eur J Hum Genet (2017)

Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16

Por Shehata, Saifeldin N., Deak, Maria, Morrice, Nicholas A., Ohta, Eriko, Hunter, Roger W., Kalscheuer, Vera M., Sakamoto, Kei
Publicado no Biochem J (2015)

Defects in tRNA anticodon loop 2'-O-methylation are implicated in non-syndromic X-linked intellectual disability due to mutations in FTSJ1

Por Guy, Michael P., Shaw, Marie, Weiner, Catherine L., Hobson, Lynne, Stark, Zornitza, Rose, Katherine, Kalscheuer, Vera M., Gecz, Jozef, Phizicky, Eric M.
Publicado no Hum Mutat (2015)

Agenesis and Dysgenesis of the Corpus Callosum: Clinical, Genetic and Neuroimaging Findings in a Series of 41 Patients

Por Schell-Apacik, Chayim Can, Wagner, Kristina, Bihler, Moritz, Ertl-Wagner, Birgit, Heinrich, Uwe, Klopocki, Eva, Kalscheuer, Vera M., Muenke, Maximilian, von Voss, Hubertus
Publicado em 2008

A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3

Por Williams, Lacey S., Kim, Hyung-Goo, Kalscheuer, Vera M., Tuck, J. Matthew, Chorich, Lynn P., Sullivan, Megan E., Falkenstrom, Allison, Reindollar, Richard H., Layman, Lawrence C.
Publicado no Mol Cytogenet (2016)

Mutation of plasma membrane Ca(2+) ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca(2+) homeostasis

Por Zanni, Ginevra, Calì, Tito, Kalscheuer, Vera M., Ottolini, Denis, Barresi, Sabina, Lebrun, Nicolas, Montecchi-Palazzi, Luisa, Hu, Hao, Chelly, Jamel, Bertini, Enrico, Brini, Marisa, Carafoli, Ernesto
Publicado em 2012

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

Por 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.
Publicado em 2008

Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci

Por Singer, Heike, Walier, Maja, Nüsgen, Nicole, Meesters, Christian, Schreiner, Felix, Woelfle, Joachim, Fimmers, Rolf, Wienker, Thomas, Kalscheuer, Vera M., Becker, Tim, Schwaab, Rainer, Oldenburg, Johannes, El-Maarri, Osman
Publicado em 2012

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

Por 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.
Publicado em 2004

Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans

Por Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, Brondum-Nielsen, Karen, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M., Thomas, N. Simon
Publicado em 2006

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Por Tzschach, Andreas, Bisgaard, Anne-Marie, Kirchhoff, Maria, Graul-Neumann, Luitgard M, Neitzel, Heidemarie, Page, Stephanie, Ahmed, Alischo, Müller, Ines, Erdogan, Fikret, Ropers, Hans-Hilger, Kalscheuer, Vera M, Ullmann, Reinhard
Publicado em 2010

Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

Por 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
Publicado em 2003

Conflicting Reports of Imprinting Status of Human GRB10 in Developing Brain: How Reliable Are Somatic Cell Hybrids for Predicting Allelic Origin of Expression?

Por Mergenthaler, Susanne, Hitchins, Megan P., Blagitko-Dorfs, Nadya, Monk, David, Wollmann, Hartmut A., Ranke, Michael B., Ropers, Hans-Hilger, Apostolidou, Sophia, Stanier, Philip, Preece, Michael A., Eggermann, Thomas, Kalscheuer, Vera M., Moore, Gudrun E.
Publicado em 2001

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Por Philips, Anju K, Sirén, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kääriäinen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A, Hu, Hao, Kalscheuer, Vera M, Järvelä, Irma
Publicado em 2014

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

Por Kalscheuer, Vera M., James, Victoria M., Himelright, Miranda L., Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A., Topf, Maya, Hoogeboom, A. Jeannette M., Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J.
Publicado no Front Mol Neurosci (2016)

Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation

Por 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
Publicado em 2004

Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

Por Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie
Publicado em 2011