Search Results - "Utermann, B."

Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid by SASS, J. O, SKLADAL, D, ZELGER, B, ROMANI, N, UTERMANN, B

“…The term "trichothiodystrophy" (TTD) covers several autosomal recessive diseases whose diagnostic hallmark is short, brittle hair low in sulfur and cystine…”
Get full text

Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage by Gersdorf, E, Utermann, B, Utermann, G

“…We describe a women of short stature but of normal intelligence with 10% trisomy 18 mosaicism. Minor dysmorphic signs including facial asymmetries and a slight…”
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

Hereditary vitreoretinal dystrophy associated with peripheral neuropathy by ETTL, A, FELBER, S, KUNZE, C, SCHMIDAUER, C, UTERMANN, B, DAXER, A, GÖTTINGER, W

“…Autosomal dominant inherited vitreoretinal dystrophy has been reported to occur as isolated ocular disease (Wagner's disease) or in combination with systemic…”
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

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

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., Kochl, S., Utermann, B., Duba, H.-C., Utermann, G.

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

Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7) by Löffler, Judith, Utermann, Barbara, Duba, Hans C., Mayr, Udo, Utermann, Gerd, Erdel, Martin

“…We present two brothers with mental retardation, seizures disorder, generalized muscular hypertonia, kyphoscoliosis, minor anomalies and a prominent midface…”
Get full text