Search Results - "UTERMANN, Barbara"

Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18 by Spreiz, Ana, MS, Guilherme, Roberta S., PhD, Castellan, Claudio, MD, Green, Andrew, MD, Rittinger, Olaf, MD, Wellek, Brigitte, MD, Utermann, Barbara, MD, Erdel, Martin, PhD, Fauth, Christine, MD, Haberlandt, Edda, MD, Kim, Chong A., PhD, Kulikowski, Leslie D., PhD, Meloni, Vera A., MD, Utermann, Gerd, MD, Zschocke, Johannes, MD, PhD, Melaragno, Maria I., PhD, Kotzot, Dieter, MD

“…Objective To study genotype–phenotype correlation of ring chromosome 18 [r(18)] in 9 patients with 46,XN karyotype. Study design In 9 patients with a de novo…”
Get full text

Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman by Höckner, Martina, Utermann, Barbara, Erdel, Martin, Fauth, Christine, Utermann, Gerd, Kotzot, Dieter

“…The phenotype of patients with a ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. Size and…”
Get full text

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype by Frühmesser, Anne, Haberlandt, Edda, Judmaier, Werner, Schinzel, Albert, Utermann, Barbara, Erdel, Martin, Fauth, Christine, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter

“…Exact breakpoint determination by DNA‐array has dramatically improved the analysis of genotype–phenotype correlations in chromosome aberrations. It allows a…”
Get full text

Diffusion-weighted imaging in Huntington's disease by Seppi, Klaus, Schocke, Michael F.H., Mair, Katherina J., Esterhammer, Regina, Weirich-Schwaiger, Helga, Utermann, Barbara, Egger, Karl, Brenneis, Christian, Granata, Roberta, Boesch, Sylvia, Poewe, Werner, Wenning, Gregor K.

“…Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder that results from an expanded trinucleotide (CAG) repeat on the…”
Get full text

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations -phenotypic spectrum and frequencies of GJB2 mutations in Austria by JANECKE, Andreas R, HIRST-STADLMANN, Almut, GÜNTHER, Barbara, UTERMANN, Barbara, MÜLLER, Thomas, LÖFFLER, Judith, UTERMANN, Gerd, NEKAHM-HEIS, Doris

“…Mutations of GJB2 (encoding connexin 26) are the most common cause of hearing loss (HL) in different populations, and a broad spectrum of GJB2 mutations has…”
Get full text

Pre- and postnatal findings in trisomy 17 mosaicism by Utermann, Barbara, Riegel, Mariluce, Leistritz, Dru, Karall, Thomas, Wisser, Josef, Meisner, Lorraine, Fauth, Christine, Baldinger, Rosa, Johnson, Julie, Erdel, Martin, Taralczak, Malgorzata, Pauli, Richard M., Baumer, Alessandra, Schinzel, Albert, Kotzot, Dieter

“…Trisomy 17 mosaicism is one of the rarest autosomal trisomies in humans. Thus far, only 23 cases have been described, most of them detected prenatally. In only…”
Get full text

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 by Walter, Sabine, Sandig, Klaus, Hinkel, Georg K., Mitulla, Beate, Ounap, Katrin, Sims, Giles, Sitska, Mari, Utermann, Barbara, Viertel, Petra, Kalscheuer, Vera, Bartsch, Oliver

“…Submicroscopic or subtle aneusomies at the chromosome ends, typically diagnosed by subtelomere fluorescence in situ hybridization (FISH), are a significant…”
Get full text

Joubert-like syndrome unlinked to known candidate loci by Janecke, Andreas R, Müller, Thomas, Gassner, Ingmar, Kreczy, Alfons, Schmid, Eduard, Kronenberg, Florian, Utermann, Barbara, Utermann, Gerd

“…We observed the Joubert syndrome (JS) associated with bilateral morning glory disk anomaly and cystic dysplastic kidneys in three patients from a…”
Get full text

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing by Hübner, Christian A., Utermann, Barbara, Tinschert, Sigrid, Krüger, Gabriele, Ressler, Bernadette, Steglich, Cordula, Schinzel, Albert, Gal, Andreas

“…L1 disease is a clinically heterogeneous X‐chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital…”
Get full text

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing: MUTATIONS IN BRIEF by Hübner, Christian A., Utermann, Barbara, Tinschert, Sigrid, Krüger, Gabriele, Ressler, Bernadette, Steglich, Cordula, Schinzel, Albert, Gal, Andreas

Get full text

Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome by Duba, H C, Erdel, M, Löffler, J, Bereuther, L, Fischer, H, Utermann, B, Utermann, G

“…We report a dysmorphic boy with a de novo partial trisomy 1q. The boy has microcephaly, bilateral cleft lip and palate, low set and dysmorphic ears, brain…”
Get full text

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations by MOULARD, Bruno, GENTON, Pierre, UTERMANN, Barbara, BALDY-MOULINIER, Michel, BELAIDI, Halima, BERTRAN, Francoise, BIRABEN, Arnaud, CHERIF, André Ali, CHKILI, Taieb, CRESPEL, Arielle, DARCEL, Francoise, DULAC, Olivier, GRID, Djamel, GENY, Christian, HUMBERT-CLAUDE, Véronique, KASSIOTIS, Philippe, BURESI, Catherine, MALAFOSSE, Alain, JEANPIERRE, Marc, OUAZZANI, Réda, MRABET, Amel, MORRIS, Mike, LEGUEM, Eric, DRAVET, Charlotte, MAUGUIERE, Francois

“…Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly…”
Get full text

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism by Loeffler, Judith, Soelder, Elisabeth, Erdel, Martin, Utermann, Barbara, Janecke, Andreas, Duba, Hans‐Christoph, Utermann, Gerd

“…We report on a woman with Muellerian aplasia, renal and skeletal anomalies, and minor dysmorphic signs. Conventional cytogenetic analysis revealed mosaicism…”
Get full text

Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations : delineation of the phenotype by ERDEL, M, DUBA, H.-C, VERDORFER, I, LINGENHEL, A, GEIGER, R, GUTENBERGER, K.-H, LUDESCHER, E, UTERMANN, B, UTERMANN, G

“…We report the use of comparative genomic hybridization (CGH) to define the origin of a small extra segment (unidentifiable by classical cytogenetics) present…”
Get full text

Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier by Duba, H C, Erdel, M, Löffler, J, Wirth, J, Utermann, B, Utermann, G

“…Nail patella syndrome (NPS) is an autosomal dominant disorder characterized by dysplasia of the nails and patella, decreased mobility of the elbow, iliac horns…”
Get full text

Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10) by ERDEL, M, SCHUFFENHAUER, S, BUCHHOLZ, B, BARTH-WITTE, U, KÖCHL, S, UTERMANN, B, DUBA, H.-C, UTERMANN, G

“…About 70% of patients with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) have a common interstitial de novo microdeletion encompassing paternal (PWS)…”
Get full text

Chromosomal instability in a woman with infertility and two unaffected brothers : a new familial chromosomal breakage syndrome? by DUBA, H.-C, WEIRICH, H. G, WEIRICH-SCHWAIGER, H, UTERMANN, B, NACHBAUR, D, SÖLDER, E, UTERMANN, G

“…Repeated chromosomal analysis of peripheral blood lymphocytes and skin fibroblasts from a woman referred for amenorrhoea, streak gonads, hyperthyroidism,…”
Get full text

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype by Frühmesser, Anne, Haberlandt, Edda, Judmaier, Werner, Schinzel, Albert, Utermann, Barbara, Erdel, Martin, Fauth, Christine, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter

Get full text

Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman by Höckner, Martina, Utermann, Barbara, Erdel, Martin, Fauth, Christine, Utermann, Gerd, Kotzot, Dieter

Get full text

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism by Loeffler, Judith, Soelder, Elisabeth, Erdel, Martin, Utermann, Barbara, Janecke, Andreas, Duba, Hans-Christoph, Utermann, Gerd

Get full text