Zobrazeno 1 - 10
of 291
pro vyhledávání: '"MH Breuning"'
Autor:
AH van der Hout, Djm Peters, JG Dauwerse, MH Breuning, G Kolsters, Katelijne Bouman, van Ton Essen
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 39(2), 136-141. BMJ PUBLISHING GROUP
The acrofacial dysostoses (AFD) are a heterogeneous group of disorders characterised by defects in craniofacial and limb development. The hallmarks include downward slanting palpebral fissures, malar hypoplasia, and receding chin (retrognathia) combi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972d5fe6d027ad3357852514717bb9c3
https://doi.org/10.1136/jmg.39.2.136
https://doi.org/10.1136/jmg.39.2.136
Publikováno v:
Neuropediatrics. 28:18-20
A murine cDNA clone was isolated by screening a mouse cDNA library with the human CLN3 cDNA. Sequence analysis indicates that the corresponding CLN3 proteins are highly homologous. We have compared these with recently identified CLN3 sequences from t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aba6ebf3e0033a03339724f7d552d9d
https://doi.org/10.1055/s-2007-973658
https://doi.org/10.1055/s-2007-973658
Mutations in transcription factors with homeobox domains have been identified in a number of developmental disorders, for instance, mutations in PAX6 have been identified in patients with aniridia, mutations in HOX13 in patients with synpolydactyly,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::931ca40934012646cfe2673954b2f443
https://europepmc.org/articles/PMC1735230/
https://europepmc.org/articles/PMC1735230/
Autor:
MH Breuning, van Ommen Gj, Tim Kievits, Peter L. Pearson, C.J. Cornelisse, Joop Wiegant, Peter Devilee, J.G. Dauwerse
Publikováno v:
Cytogenetic and Genome Research. 53:134-136
A rapid method for localizing large numbers of complete cosmids by nonradioactive in situ hybridization is described. The cosmids are nick translated in the presence of biotin-16-dUTP, incubated with an excess of sonicated human DNA, and used as a pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f99ee085986e8ab5b3a0c16723d87b3f
https://doi.org/10.1159/000132913
https://doi.org/10.1159/000132913
Autor:
BA van der Reijden, JG Dauwerse, JW Wessels, GC Beverstock, A Hagemeijer, GJ van Ommen, MH Breuning
Publikováno v:
Blood. 82(10)
Chromosome 16 aberrations are well known in acute nonlymphocytic leukemia (ANLL). The most frequent chromosome 16 aberration in ANLL subtype M4Eo is the inv(16)(p13q22). Recently, we showed that in 5 inv(16) patients with ANLL M4Eo the short arm brea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f70e8055407baab07ac5f19a0bdfb1c5
https://pubmed.ncbi.nlm.nih.gov/8219185
https://pubmed.ncbi.nlm.nih.gov/8219185
Autor:
JG Dauwerse, EA Jumelet, JW Wessels, JJ Saris, A Hagemeijer, GC Beverstock, GJ van Ommen, MH Breuning
Publikováno v:
Blood. 79(5)
Specific rearrangements of chromosome 16 are well known in acute nonlymphocytic leukemia with abnormal eosinophils. While mapping cosmids relative to breakpoints in chromosome 16 in leukemic cells with fluorescence in situ hybridization (FISH), we ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::901d4136c223e5d36b1f5c6a436649ff
https://pubmed.ncbi.nlm.nih.gov/1536953
https://pubmed.ncbi.nlm.nih.gov/1536953
Publikováno v:
Blood. 77(7)
We report a case of acute nonlymphocytic leukemia (ANLL) M5 with the characteristic t(8;16)(p11;p13). The breakpoint in the short arm was regionally localized using nonradioactive in situ hybridization with a series of cosmids of chromosome 16. The r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f807015861a176a2ab74cfeb46928186
https://pubmed.ncbi.nlm.nih.gov/2009371
https://pubmed.ncbi.nlm.nih.gov/2009371
Autor:
Smit E, MH Breuning, van Ommen Gj, van der Keur D, Tim Kievits, Hans W. Wessels, Geoffrey C. Beverstock, Peter L. Pearson, Anne Hagemeijer, J. G. Dauwerse
Publikováno v:
Cytogenetics and cell genetics. 53(2-3)
The pericentric inversion of chromosome 16 characteristic for acute nonlymphocytic leukemia, subtype M4, was detected in five patients by means of nonradioactive in situ hybridization of complete cosmids. First, five cosmids situated along the short
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5635fdba7dcc74bfeb74d34fd3b2973e
https://pubmed.ncbi.nlm.nih.gov/2369839
https://pubmed.ncbi.nlm.nih.gov/2369839
Publikováno v:
Journal of Medical Genetics. 34:955-956
The recent isolation of the CLN3 gene involved in Batten disease (juvenile neuronal ceroid lipofuscinosis) creates possibilities for direct detection of mutations which can confirm or indicate the clinical diagnosis of Batten disease. We have designe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c7f564bcee1309bf20257d78d30730
https://doi.org/10.1136/jmg.34.11.955
https://doi.org/10.1136/jmg.34.11.955
Autor:
Wn, Leonhard, Steven Kunnen, Aj, Plugge, Pasternack A, Sb, Jianu, Veraar K, El Bouazzaoui F, Wm, Hoogaars, Ten Dijke P, Mh, Breuning, De Heer E, Ritvos O, Dj, Peters
Publikováno v:
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::af7c503355978f56606aab4bdd29dd58
http://europepmc.org/abstract/med/27020852
http://europepmc.org/abstract/med/27020852