Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes

Autor: Caroline B. Michielse, Yasmin Raashid, Hussain Jafrid, José A. J. M. van den Hurk, Han G. Brunner, Meena Bhat, George W. Padberg, Hans van Bokhoven, Angela F. Brady

Publikováno v: European Journal of Human Genetics, 14, 12, pp. 1306-12
European Journal of Human Genetics, 14, 1306-12

Contains fulltext : 50478.pdf (Publisher’s version ) (Closed access) Hereditary congenital facial palsy (HCFP) is an autosomal-dominant disorder consisting of paresis or paralysis of the VIIth (facial) cranial nerve. Genetic heterogeneity for this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c50e30a894cc57d3ae3092a385ba9102
https://doi.org/10.1038/sj.ejhg.5201706

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

Autor: L. Ingeborgh van den Born, Bernd Wissinger, Marc A. van Driel, Eberhart Zrenner, Han G. Brunner, Lies H. Hoefsloot, Hans-Hilger Ropers, John R. Heckenlively, Ilse J. de Wijs, Frans P.M. Cremers, José A. J. M. van den Hurk, Dorien J. R. van de Pol

Publikováno v: Human Genetics, 113, 3, pp. 268-75
Human Genetics, 113, 268-75

Contains fulltext : 120677.pdf (Publisher’s version ) (Closed access) Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort prot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d790c218ae8911b3fc49f1c8f07c13c4
https://hdl.handle.net/2066/120677

Identification of mutations in Danish choroideremia families

Autor: Thomas Rosenberg, Dorien J. R. van den Pol, Frans P.M. Cremers, José A. J. M. van den Hurk, Marianne Schwartz

Publikováno v: Human Mutation. 2:43-47

We have searched for mutations in the choroideremia gene (CHM) in patients from 12 Danish families in which CHM is segregating. Employing polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) analysis, and direct DNA sequenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::710b727f6251bf2f71ca16105ef88f24
https://doi.org/10.1002/humu.1380020108

L1 retrotransposition can occur early in human embryonic development

Autor: Paulus T. V. M. de Jong, Iwan C. Meij, Erik A. Sistermans, Frans P.M. Cremers, Haig H. Kazazian, Astrid S. Plomp, Ilse J. de Wijs, Lies H. Hoefsloot, Konstantinos Nikopoulos, Maria del Carmen Seleme, Arijit Mukhopadhyay, José A. J. M. van den Hurk, Hiroki Kano

Publikováno v: Human molecular genetics, 16(13), 1587-1592. Oxford University Press
Human Molecular Genetics, 16(13), 1587-1592. Oxford University Press
Human Molecular Genetics, 16, 1587-92
van den Hurk, J A J M, Meij, I C, del Carmen Seleme, M, Kano, H, Nikopoulos, K, Hoefsloot, L H, Sistermans, E A, de Wijs, I J, Mukhopadhyay, A, Plomp, A S, de Jong, P T V M, Kazazian, H H & Cremers, F P M 2007, ' L1 retrotransposition can occur early in human embryonic development ', Human Molecular Genetics, vol. 16, no. 13, pp. 1587-1592 . https://doi.org/10.1093/hmg/ddm108
Human Molecular Genetics, 16, 13, pp. 1587-92

Contains fulltext : 52357.pdf (Publisher’s version ) (Closed access) L1 elements are autonomous retrotransposons that can cause hereditary diseases. We have previously identified a full-length L1 insertion in the CHM (choroideremia) gene of a patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8423a095d4e97af4c19391564d4480
https://pure.amc.nl/en/publications/l1-retrotransposition-can-occur-early-in-human-embryonic-development(7f9d39c1-91fe-422b-9d80-acf194105a3f).html

Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline

Autor: Gesine B. Jaissle, Konrad Kohler, Frank Oerlemans, Frans P.M. Cremers, Hans van Bokhoven, Hans-Hilger Ropers, José A. J. M. van den Hurk, Wiljan Hendriks, Eberhart Zrenner, Klaus Rüther, Bé Wieringa, Jens Hartmann, Dorien J. R. van de Pol

Publikováno v: Human Molecular Genetics, 6, pp. 851-858
Human Molecular Genetics, 6, 6, pp. 851-858
Human Molecular Genetics, 6, 851-858

Choroideremia (CHM) is an X-linked progressive eye disorder which results from defects in the human Rab escort protein-1 (REP-1) gene. A gene targeting approach was used to disrupt the mouse chm/rep-1 gene. Chimeric males transmitted the mutated gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::173a8d6b40527e2824e4ea819fe70b6a
https://pubmed.ncbi.nlm.nih.gov/9175730