Search Results - "Kalscheuer, V"

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes by Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A P M, Weinert, S, Froyen, G, Frints, S G M, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K E P, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L B, Wieacker, P, Rodríguez Criado, G, Bondeson, M-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T J, Chen, W, Ropers, H-H, Kalscheuer, V M

“…X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID…”
Get full text

The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules by Kunde, S.A., Musante, L., Grimme, A., Fischer, U., Müller, E., Wanker, E.E., Kalscheuer, V.M.

“…The polyglutamine-binding protein 1 (PQBP1) has been linked to several X-linked intellectual disability disorders and progressive neurodegenerative diseases…”
Get full text

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females by Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M

“…Variants in CLCN4 , which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked…”
Get full text

New insights into Brunner syndrome and potential for targeted therapy by Palmer, E.E., Leffler, M., Rogers, C., Shaw, M., Carroll, R., Earl, J., Cheung, N.W., Champion, B., Hu, H., Haas, S.A., Kalscheuer, V.M., Gecz, J., Field, M.

“…We report two families with Brunner syndrome living in one state of Australia. The first family had a predicted protein‐truncating variant of monoamine oxidase…”
Get full text

The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders by Charzewska, A., Maiwald, R., Kahrizi, K., Oehl‐Jaschkowitz, B., Dufke, A., Lemke, J.R., Enders, H., Najmabadi, H., Tzschach, A., Hachmann, W., Jensen, C., Bienek, M., Poznański, J., Nawara, M., Chilarska, T., Obersztyn, E., Hoffman‐Zacharska, D., Gos, M., Bal, J., Kalscheuer, V.M.

“…MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene…”
Get full text

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells by Ito, H, Shiwaku, H, Yoshida, C, Homma, H, Luo, H, Chen, X, Fujita, K, Musante, L, Fischer, U, Frints, S G M, Romano, C, Ikeuchi, Y, Shimamura, T, Imoto, S, Miyano, S, Muramatsu, S-i, Kawauchi, T, Hoshino, M, Sudol, M, Arumughan, A, Wanker, E E, Rich, T, Schwartz, C, Matsuzaki, F, Bonni, A, Kalscheuer, V M, Okazawa, H

“…Human mutations in PQBP1 , a molecule involved in transcription and splicing, result in a reduced but architecturally normal brain. Examination of a…”
Get full text

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation by 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

Get full text

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain by Jolly, Lachlan A, Nguyen, Lam Son, Domingo, Deepti, Sun, Ying, Barry, Simon, Hancarova, Miroslava, Plevova, Pavlina, Vlckova, Marketa, Havlovicova, Marketa, Kalscheuer, Vera M, Graziano, Claudio, Pippucci, Tommaso, Bonora, Elena, Sedlacek, Zdenek, Gecz, Jozef

“…Both gain- and loss-of-function mutations have recently implicated HCFC1 in neurodevelopmental disorders. Here, we extend our previous HCFC1 over-expression…”
Get full text

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion by BLAGITKO, N, MERGENTHALER, S, SCHULZ, U, WOLLMANN, H. A, CRAIGEN, W, EGGERMANN, T, ROPERS, H.-H, KALSCHEUER, V. M

“…As part of a systematic screen for novel imprinted genes of human chromosome 7 we have investigated GRB10, which belongs to a small family of adapter proteins,…”
Get full text

Breakpoints around the HOXD cluster result in various limb malformations by 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

“…Background: Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and…”
Get full text

Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region by Tagariello, A, Heller, R, Greven, A, Kalscheuer, V M, Molter, T, Rauch, A, Kress, W, Winterpacht, A

“…Craniosynostosis is a congenital developmental disorder involving premature fusion of cranial sutures, which results in an abnormal shape of the skull…”
Get full text

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation by Erdogan, F, Chen, W, Kirchhoff, M, Kalscheuer, V M, Hultschig, C, Müller, I, Schulz, R, Menzel, C, Bryndorf, T, Ropers, H-H, Ullmann, R

“…Low copy repeats (LCRs) are stretches of duplicated DNA that are more than 1 kb in size and share a sequence similarity that exceeds 90%. Non-allelic…”
Get more information

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 by 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

“…We report a de novo, apparently balanced (2;8)(q35;q21.2) translocation in a boy with developmental delay and autism. Cross species (colour) paint (Rx) and SKY…”
Get full text

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients by Tümer, Z., Harboe, T.L., Blennow, E., Kalscheuer, V.M., Tommerup, N., Brøndum-Nielsen, K.

“…We report molecular cytogenetic characterization of ring chromosome 15 in three unrelated male patients with the karyotype 46,XY,r(15). One was a stillborn…”
Get full text

Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations by Höckner, M, Spreiz, A, Frühmesser, A, Tzschach, A, Dufke, A, Rittinger, O, Kalscheuer, V, Singer, S, Erdel, M, Fauth, C, Grossmann, V, Utermann, G, Zschocke, J, Kotzot, D

“…De novo cytogenetically balanced reciprocal non-Robertsonian translocations are rare findings in clinical cytogenetics and might be associated with an abnormal…”
Get more information

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

“…X-linked West syndrome, also called “X-linked infantile spasms” (ISSX), is characterized by early-onset generalized seizures, hypsarrhythmia, and mental…”
Get full text

CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome by Córdova-Fletes, C, Rademacher, N, Müller, I, Mundo-Ayala, JN, Morales-Jeanhs, EA, García-Ortiz, JE, León-Gil, A, Rivera, H, Domínguez, MG, Kalscheuer, VM

Get full text

A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females by Dreha-Kulaczewski, S., Kalscheuer, V., Tzschach, A., Hu, H., Helms, G., Brockmann, K., Weddige, A., Dechent, P., Schlüter, G., Krätzner, R., Ropers, H.-H., Gärtner, J., Zirn, B.

“…X-linked creatine transport (CRTR) deficiency, caused by mutations in the SLC6A8 gene, leads to intellectual disability, speech delay, epilepsy, and autistic…”
Get full text

Biallelic expression of the H19 and IGF2 genes in human testicular germ cell tumors by van Gurp, R J, Oosterhuis, J W, Kalscheuer, V, Mariman, E C, Looijenga, L H

“…Genomic imprinting, resulting in the nonequivalence of expression of homologue genes depending on their parental origin, is an important determinant of the…”
Get more information

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome by Boonen, S.E., Stahl, D., Kreiborg, S., Rosenberg, T., Kalscheuer, V., Larsen, L.A., Tommerup, N., Brøndum‐Nielsen, K., Tümer, Z.

“…Basal cell nevus syndrome (Gorlin syndrome) is an autosomal dominant disorder characterized by the presence of multiple basal cell carcinomas (BCC),…”
Get full text