Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10)
Erdel, M, Schuffenhauer, S, Buchholz, B, Barth-Witte, U, Köchl, S, Utermann, B, Duba, H C, Utermann, G
Published in Human genetics (01.06.1996)
Published in Human genetics (01.06.1996)
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Hereditary vitreoretinal dystrophy associated with peripheral neuropathy
Ettl, A, Felber, S, Kunze, C, Schmidauer, C, Utermann, B, Daxer, A, Göttinger, W
Published in Graefe's archive for clinical and experimental ophthalmology (01.06.1994)
Published in Graefe's archive for clinical and experimental ophthalmology (01.06.1994)
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Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations -phenotypic spectrum and frequencies of GJB2 mutations in Austria
JANECKE, Andreas R, HIRST-STADLMANN, Almut, GÜNTHER, Barbara, UTERMANN, Barbara, MÜLLER, Thomas, LÖFFLER, Judith, UTERMANN, Gerd, NEKAHM-HEIS, Doris
Published in Human genetics (01.08.2002)
Published in Human genetics (01.08.2002)
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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
Walter, Sabine, Sandig, Klaus, Hinkel, Georg K., Mitulla, Beate, Ounap, Katrin, Sims, Giles, Sitska, Mari, Utermann, Barbara, Viertel, Petra, Kalscheuer, Vera, Bartsch, Oliver
Published in American journal of medical genetics. Part A (01.08.2004)
Published in American journal of medical genetics. Part A (01.08.2004)
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Journal Article
Joubert-like syndrome unlinked to known candidate loci
Janecke, Andreas R, Müller, Thomas, Gassner, Ingmar, Kreczy, Alfons, Schmid, Eduard, Kronenberg, Florian, Utermann, Barbara, Utermann, Gerd
Published in The Journal of pediatrics (01.02.2004)
Published in The Journal of pediatrics (01.02.2004)
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Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing
Hübner, Christian A., Utermann, Barbara, Tinschert, Sigrid, Krüger, Gabriele, Ressler, Bernadette, Steglich, Cordula, Schinzel, Albert, Gal, Andreas
Published in Human mutation (01.05.2004)
Published in Human mutation (01.05.2004)
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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
Duba, H C, Erdel, M, Löffler, J, Bereuther, L, Fischer, H, Utermann, B, Utermann, G
Published in Journal of medical genetics (01.04.1997)
Published in Journal of medical genetics (01.04.1997)
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Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations
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
Published in Human genetics (01.09.2002)
Published in Human genetics (01.09.2002)
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Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations : delineation of the phenotype
ERDEL, M, DUBA, H.-C, VERDORFER, I, LINGENHEL, A, GEIGER, R, GUTENBERGER, K.-H, LUDESCHER, E, UTERMANN, B, UTERMANN, G
Published in Human genetics (01.05.1997)
Published in Human genetics (01.05.1997)
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Journal Article
Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier
Duba, H C, Erdel, M, Löffler, J, Wirth, J, Utermann, B, Utermann, G
Published in European journal of human genetics : EJHG (01.01.1998)
Published in European journal of human genetics : EJHG (01.01.1998)
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Journal Article
Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10)
Erdel, M., Schuffenhauer, S., Buchholz, B., Barth-Witte, U., Kochl, S., Utermann, B., Duba, H.-C., Utermann, G.
Published in Early human development (01.11.1996)
Published in Early human development (01.11.1996)
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