Zeynep Tümer

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. (2008)

Gilling, Mette, Lauritsen, Marlene Briciet, Møller, Morten, Henriksen, Karen Friis, Vicente, Astrid, Oliveira, Guiomar, ...

Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few...

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly (2008)

Mller, Rikke S., Kübart, Sabine, Hoeltzenbein, Maria, Heye, Babett, Vogel, Ida, Hansen, Christian P., ...

We have identified and characterized two unrelated patients with prenatal onset of microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and febrile seizures/epilepsy...

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A (2008)

Møller, Rikke S., Schneider, Lizette M., Hansen, Christian P., Bugge, Merete, Ullmann, Reinhard, Tommerup, Niels, ...

In a patient with severe myoclonic epilepsy of infancy (SMEI), we identified a de novo balanced translocation, t(2;5)(q24.3,q34). The breakpoint on chromosome 2q24.3 truncated the SCN1A gene and the...

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome (2007)

Belloso, Jose M, Bache, Iben, Guitart, Miriam, Caballin, Maria Rosa, Halgren, Christina, Kirchhoff, Maria, ...

Caspr2 is a member of neurexin superfamily, members of which are transmembrane proteins that mediate cellular interactions in the nervous system. Recently, truncation of the CNTNAP2 gene coding for...

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 (2007)

Jakobsen, Linda P., Ullmann, Reinhard, Christensen, Steen B ., Jensen, Karl Erik, Mølsted, Kirsten, Henriksen, Karen F ., ...

Background: The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes—for instance, campomelic...

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans (2006)

Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, ...

The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a polymorphic variant. Cloning and...

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease (2006)

Bækvad-Hansen, Marie, Tümer, Zeynep, Delicado, Alicia, Erdogan, Fikret, Tommerup, Niels, Larsen, Lars A.

Fine mapping of chromosomal deletions and genotype-phenotype comparisons of clinically well-defined patients can be used to confirm or reveal loci and genes associated with human disorders. Eleven...

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among Northern Europeans (2006)

Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, ...

The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a polymorphic variant. Cloning and...

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter (2005)

Sogaard, Marie, Tümer, Zeynep, Hjalgrim, Helle, Hahnemann, Johanne, Friis, Birgitte, Ledaal, Paal, ...

Abstract Background Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are...

An excess of chromosome 1 breakpoints in male infertility (2004)

Bache,Iben, Van Assche,Elvire, Cingoz,Sultan, Bugge,Merete, Tümer,Zeynep, Hjorth,Mads, ...

In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics...

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 (2004)

Midro,Alina T., Panasiuk,Barbara, Tümer,Zeynep, Stankiewicz,Pawel, Silahtaroglu,Asli, Lupski,James R., ...

The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of...

An excess of chromosome 1 breakpoints in male infertility (2004)

Bache, Iben, Van Assche, Elvire, Cingoz, Sultan, Bugge, Merete, Tümer, Zeynep, Hjorth, Mads, ...

In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics...

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 (2004)

Midro, Alina T., Panasiuk, Barbara, Tümer, Zeynep, Stankiewicz, Pawel, Silahtaroglu, Asli, Lupski, James R., ...

The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of...

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS) (2002)

Silahtaroglu, Asli N, Brondum-Nielsen, Karen, Gredal, Ole, Werdelin, Lene, Panas, Marios, Petersen, Michael B, ...

Abstract Background Amyotrophic lateral sclerosis (ALS) is a progressive lethal disorder of large motor neurons of the spinal cord and brain. In approximately 20% of the familial and 2% of sporadic...

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) (2002)

Tümer,Zeynep, Croucher,Peter J. P., Jensen,Lars Riff, Hampe,Jochen, Hansen,Claus, Kalscheuer,Vera, ...

Chronic inflammatory bowel disease is a multifactorial disorder with two major clinical forms, Crohn's disease and ulcerative colitis. One of the potential susceptibility loci for inflammatory bowel...

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) (2002)

Tümer, Zeynep, Croucher, Peter J. P., Jensen, Lars Riff, Hampe, Jochen, Hansen, Claus, Kalscheuer, Vera, ...

Chronic inflammatory bowel disease is a multifactorial disorder with two major clinical forms, Crohn's disease and ulcerative colitis. One of the potential susceptibility loci for inflammatory bowel...

Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease (1992)

Tümer, Zeynep, Chelly, Jamel, Tommerup, Niels, Ishikawa-Brush, Yumiko, Tønnesen, Tønne, Monaco, Anthony P., ...

Menkes disease, an X-linked recessive disorder of copper metabolism, has recently been mapped to Xq13.3 by two Menkes patients carrying chromosome rearrangements within this region. The breakpoints...

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)

Silahtaroglu, Asli N, Brondum-Nielsen, Karen, Gredal, Ole, Werdelin, Lene, Panas, Marios, Petersen, Michael B, ...

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

Sogaard, Marie, Tümer, Zeynep, Hjalgrim, Helle, Hahnemann, Johanne, Friis, Birgitte, Ledaal, Paal, ...

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Møller, Lisbeth Birk, Tümer, Zeynep, Lund, Connie, Petersen, Carsten, Cole, Trevor, Hanusch, Ralf, ...

More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations lead to the classic form of Menkes disease (MD), and a few lead to the milder occipital horn syndrome...

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

Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, ...

The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a polymorphic variant. Cloning and...

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)

Silahtaroglu, Asli N, Brondum-Nielsen, Karen, Gredal, Ole, Werdelin, Lene, Panas, Marios, Petersen, Michael B, ...

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

Sogaard, Marie, Tümer, Zeynep, Hjalgrim, Helle, Hahnemann, Johanne, Friis, Birgitte, Ledaal, Paal, ...

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Møller, Lisbeth Birk, Tümer, Zeynep, Lund, Connie, Petersen, Carsten, Cole, Trevor, Hanusch, Ralf, ...

More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations lead to the classic form of Menkes disease (MD), and a few lead to the milder occipital horn syndrome...

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

Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, ...

The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a polymorphic variant. Cloning and...

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

Møller, Rikke S., Kübart, Sabine, Hoeltzenbein, Maria, Heye, Babett, Vogel, Ida, Hansen, Christian P., ...

We have identified and characterized two unrelated patients with prenatal onset of microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and febrile seizures/epilepsy...