B. Utermann

发表

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations – phenotypic spectrum and frequencies of GJB2 mutations in Austria

G. Utermann, A. Janecke, T. Müller, 2002, Human Genetics.

Diffusion‐weighted imaging in Huntington's disease

Klaus Seppi, Werner Poewe, Regina Esterhammer, 2006, Movement disorders : official journal of the Movement Disorder Society.

Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10)

S. Schuffenhauer, B. Buchholz, G. Utermann, 1996, Human Genetics.

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

K. Õunap, V. Kalscheuer, G. Hinkel, 2004, American journal of medical genetics. Part A.

Hereditary vitreoretinal dystrophy associated with peripheral neuropathy

S. Felber, A. Daxer, A. Ettl, 1994, Graefe's Archive for Clinical and Experimental Ophthalmology.

Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7).

G. Utermann, H. Duba, B. Utermann, 2000, American journal of medical genetics.

Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid

J. Sass, N. Romani, B. Utermann, 2004, Archives of Dermatological Research.

Chromosomal instability in a woman with infertility and two unaffected brothers: a new familial chromosomal breakage syndrome?

G. Utermann, D. Nachbaur, H. Duba, 1997, Human Genetics.

Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype

G. Utermann, I. Verdorfer, R. Geiger, 1997, Human Genetics.

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.

G. Utermann, H. Duba, B. Utermann, 1997, Journal of medical genetics.

Pre‐ and postnatal findings in trisomy 17 mosaicism

C. Fauth, R. Pauli, A. Schinzel, 2006, American journal of medical genetics. Part A.

by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1 q syndrome

H. Fischer, G. Utermann, H. Duba, 2022 .

Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman

C. Fauth, G. Utermann, M. Höckner, 2008, American journal of medical genetics. Part A.

Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier

G. Utermann, J. Wirth, H. Duba, 1998, European Journal of Human Genetics.

Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage

G. Utermann, B. Utermann, E. Gersdorf, 1990, Human Genetics.

Joubert-like syndrome unlinked to known candidate loci.

F. Kronenberg, G. Utermann, A. Janecke, 2004, The Journal of pediatrics.

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype

C. Fauth, G. Utermann, J. Zschocke, 2012, American journal of medical genetics. Part A.

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

G. Utermann, A. Janecke, H. Duba, 2003, American journal of medical genetics. Part A.

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

A. Green, C. Fauth, C. Kim, 2013, The Journal of pediatrics.

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations

C. Buresi, A. Malafosse, A. Biraben, 2002, Human Genetics.

Intronic mutations in the L1CAM gene may cause X‐linked hydrocephalus by aberrant splicing

S. Tinschert, C. Hübner, A. Schinzel, 2004, Human mutation.