Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Bart J Van der Auwera"'
Autor:
Jeroen M. K. de Filette, Stéphanie André, Lynn De Mey, Sandrine Aspeslagh, Rafik Karmali, Bart J Van der Auwera, Bert Bravenboer
Publikováno v:
BMC Endocrine Disorders, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Immune checkpoint inhibitors (ICI) targeting cytotoxic T-lymphocyte-associated protein 4 (CTLA-4), programmed cell death protein 1 and its ligand (PD-1/PD-L1) have become the current standard-of-care for advanced cancers. This nov
Externí odkaz:
https://doaj.org/article/1051afc9a877407b9bc182c7a451b341
Publikováno v:
Acta Clinica Belgica. 46:13-17
Cystic fibrosis (CF) is one of the most frequent recessive disorders among Caucasians. DNA analysis is performed by linkage analysis with DNA markers tightly linked to the CF gene. Cloning and sequencing of the cystic fibrosis gene, however, revealed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99c2f806513b947767f553aca5708e77
https://doi.org/10.1080/17843286.1991.11718135
https://doi.org/10.1080/17843286.1991.11718135
Autor:
Kathelijne Mangelschots, Miet Vercruyssen, Franki Speleman, Joop Wiegant, Ton Raap, Juliaan Leroy, Bart J. Van der Auwera, Margarita Craen
Publikováno v:
Human Genetics. 85:569-575
In two female patients with a 45,X/46,X, +mar karyotype the marker chromosomes were identified as normal length nonfluorescent Y chromosomes (nlYnf) using non-isotopic in situ hybridization (NISH) complementary to routine cytogenetic analysis and Sou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70b4bdbc07ee7dadb2b0bc6034540812
https://doi.org/10.1007/bf00193576
https://doi.org/10.1007/bf00193576
Autor:
Béatrice Gulbis, Frans Gorus, I Weets, Jan E. Van Autreve, Bart J. Van der Auwera, Françoise Vertongen
Publikováno v:
Human immunology. 65(7)
The heterozygous combination of DQA1*03-DQB1*0302 (DQ8) and DQA1*05-DQB1*0201 (DQ2) confers the highest known HLA-DQ-linked risk for type 1 diabetes, suggesting a role for transcomplementation. The trans -heterodimer encoded by DQA1*03 and DQB1*02 is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc25946941c8b751d6bc034f42fb9343
https://pubmed.ncbi.nlm.nih.gov/15301863
https://pubmed.ncbi.nlm.nih.gov/15301863
Publikováno v:
American journal of medical genetics. 52(4)
Spondylocostal dysostosis (SCD) is a rare skeletal dysplasia with clinical and radiological manifestations, consisting of short neck and trunk, barrel-shaped chest, protuberant abdomen, scoliosis and abnormalities of vertebral segmentation and of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eee3ac32ec678bf1c1b3e2f7119f9649
https://pubmed.ncbi.nlm.nih.gov/7747763
https://pubmed.ncbi.nlm.nih.gov/7747763
Autor:
Stephen T. Warren, Irene Dijkstra, Paul Coucke, Bart J. Van der Auwera, Patrick J. Willems, Oebele F. Brouwer, Willy O. Renier, Christine Van Broeckhoven, Sallie B. Freeman, August F. Van Elsen, Jan E. Dumon, Peter Raeymaekers, Giacomo G. Consalez, Han G. Brunner, L Vits
Publikováno v:
GENOMICS, 8(2), 367-370. ACADEMIC PRESS INC ELSEVIER SCIENCE
Genomics: international journal of gene mapping and nucleotide sequencing
Genomics: international journal of gene mapping and nucleotide sequencing
X-linked recessive hydrocephalus (HSAS) occurs at a frequency of approximately 1 per 30,000 male births and consists of hydrocephalus, stenosis of the aqueduct of Sylvius, mental retardation, spastic paraparesis, and clasped thumbs. Prenatal diagnosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7786737277b756c0824aca99b43cdb3e
https://pubmed.ncbi.nlm.nih.gov/1979056
https://pubmed.ncbi.nlm.nih.gov/1979056
Autor:
Patrick Willems, Bart J. Van der Auwera, Jacques A. G. Lormans, L Vits, Paul Coucke, Jan E. Dumon, Bernadette Van Roy, Berten Ceulemans
Publikováno v:
American journal of medical genetics. 36(1)
We describe two male sibs with mental retardation discordant for the fragile-X syndrome. In the younger sib, chromosome analysis under folate deprivation showed a fragile site at Xq27.3 in 12-46% of mitoses. In the older sib, however, repeated chromo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::515745062e3b72056f00de5cf0ec7622
https://pubmed.ncbi.nlm.nih.gov/1746622
https://pubmed.ncbi.nlm.nih.gov/1746622
Publikováno v:
Annual Review of Hydrocephalus ISBN: 9783662111543
X-linked aqueductal stenosis is a recessive X-linked syndrome (HC-MR) characterized by hydrocephalus (HC), mental retardation (MR) and clasped thumbs (Mc Kusick 39700). The different symptoms are not always present and a large inter- and intrafamilia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::931e115655a8fd70c1dc4d09f83ad886
https://doi.org/10.1007/978-3-662-11152-9_20
https://doi.org/10.1007/978-3-662-11152-9_20
