Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Damina Balmer"'
Publikováno v:
Journal of Molecular Medicine. 81:61-68
Rett syndrome is caused by mutations in MECP2 and characterized by arrested postnatal neurodevelopment. MECP2 is ubiquitously expressed, but its protein product, methyl-CpG-binding protein 2 (MeCP2), is highly expressed in a subpopulation of cells in
Autor:
Franziska M. Häfner, Damina Balmer, Albert Schinzel, Thomas E. Linder, Allessandra Baumer, Thomas Spillmann, Ambar A. Salam, Suzanne M. Leal
Publikováno v:
The American Journal of Human Genetics. 66:1437-1442
Nonsyndromic hearing loss is one of the most genetically heterogeneous traits known. A total of 30 autosomal dominant nonsyndromic hearing–loss loci have been mapped, and 11 genes have been isolated. In the majority of cases, autosomal dominant non
Autor:
Krystyna H. Chrzanowska, Iosif W. Lurie, Barto J. Otten, Ben C.J. Hamel, H. Ilyina, M. Krajewska-Walasek, Damina Balmer, E. Schoenle, Gholamali Tariverdian, Dieter Kotzot, Albert Schinzel, Alessandra Baumer
Publikováno v:
European Journal of Pediatrics, 159, pp. 247-256
European Journal of Pediatrics, 159, 247-256
European Journal of Pediatrics, 159, 247-256
Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 new cases, present clinical information of 5 cases previously reporte
Autor:
Krystyna H. Chrzanowska, Benno Röthlisberger, Damina Balmer, Albert Schinzel, Mariluce Riegel
Publikováno v:
Scopus-Elsevier
ResearcherID
ResearcherID
By random amplification of a microdissected chromosome using the degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) and forward painting (microFISH), we characterised an extra structurally abnormal chromosome (ESAC) or supernumerar
Autor:
Elana Lopez-Rangel, Michael B. Petersen, Damina Balmer, Dieter Kotzot, Michael S. Wang, Wendy P. Robinson, B. N. Chodirker, Jolanda Gyftodimou, Robin Casey, Albert Schinzel
Publikováno v:
American Journal of Medical Genetics. 86:34-43
Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and pa
Publikováno v:
European Journal of Human Genetics. 6:140-144
In a recent study Bugge et al and Kotzot et al reported that isochromosomes 18p originate mainly from maternal meiosis II nondisjunction, followed by misdivision. In order to determine if there is a common mechanism for isochromosome formation, three
Autor:
Benno Röthlisberger, Tamara I Buzhievskaya, Albert Schinzel, Damina Balmer, Tatjana E. Zerova, Dieter Kotzot
Editor—At least 168 cases with a supernumerary marker chromosome (SMC) from all chromosomes not including chromosome 15 have been documented.1 Birth prevalence is estimated at 0.14 to 0.72 per 1000.2 Subjects with a SMC have a partial trisomy (dupl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08b9abe1fea161f1572d13115a3d16af
https://europepmc.org/articles/PMC1734780/
https://europepmc.org/articles/PMC1734780/
Publikováno v:
Human molecular genetics. 10(17)
Rett syndrome (RTT) is an X-linked, dominant neurodevelopmental disorder caused by mutations in MECP2, encoding the methyl-CpG-binding protein 2 (MeCP2). A major paradox in the pathogenesis of RTT is how mutations in ubiquitously transcribed MECP2 re
Triploidy is one of the most frequently observed chromosome abnormalities in spontaneous abortions in humans. The parental origin of the additional chromosome set is known to have a major impact on the phenotype of the foetuses and to result in diffe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33eadfedf78078d9a919cd478f0493f9
https://doi.org/10.5167/uzh-234286
https://doi.org/10.5167/uzh-234286
Autor:
Dieter Kotzot, Damina Balmer, Albert Schinzel, Benno Röthlisberger, Lukrecija Brecevic, Franz Binkert, Michael Koehler
Publikováno v:
European journal of human genetics : EJHG. 7(8)
We report on a family with a balanced complex chromosomal rearrangement (CCR) involving eight breakpoints between chromosomes 6, 7, 18, and 21 in the father. All three sons inherited one derivative chromosome from the father and in addition each inhe