Zobrazeno 1 - 10
of 100
pro vyhledávání: '"LHJ LOOIJENGA"'
Autor:
J.A. Visser, Stenvert L. S. Drop, Hennie T. Brüggenwirth, Y.G. van der Zwan, Lhj Looijenga, G.C. Madern, Katja P. Wolffenbuttel
Publikováno v:
Sexual Development. 6:279-283
Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous misse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a70e264ebbcdb94a1201803bccf68939
https://doi.org/10.1159/000339704
https://doi.org/10.1159/000339704
Autor:
Brenda Summersgill, Alan McIntyre, R.R. de Krijger, A. J. M. Gillis, Friedemann Honecker, Hans Stoop, Janet Shipley, Martine Cools, Carsten Bokemeyer, Katja P. Wolffenbuttel, Nening Dennis, J. W. Oosterhuis, Lhj Looijenga, Sls Drop, Gjm van de Geijn, M de Boer
Publikováno v:
Journal of Pathology, 216(1), 43-54. John Wiley & Sons Ltd.
Carcinoma in situ (CIS) of the testis is the pre-invasive stage of type 11 testicular germ cell tumours (TGCTs) of adolescents and adults. These tumours are the most frequently diagnosed cancer in Caucasian adolescents and young adults. In dysgenetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc6876a620da71600674b457aca85cb1
https://doi.org/10.1002/path.2378
https://doi.org/10.1002/path.2378
Publikováno v:
Tijdschrift voor Kindergeneeskunde. 76:92-104
De laatste jaren is significante vooruitgang geboekt in het onderzoek naar genen die betrokken zijn bij de normale geslachtsontwikkeling en hoe mutaties in deze genen leiden tot een stoornis in dit proces. Tevens is inzicht verkregen in het ontstaan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::718bdea7dcb441f4e3e3d44d65a90486
https://doi.org/10.1007/bf03078187
https://doi.org/10.1007/bf03078187
Autor:
PW van Duijn, Kgl Hermans, Pcms Verhagen, H. Stoop, Rjhlm van Gurp, Lhj Looijenga, T.H. Van Der Kwast, Jan Trapman
Publikováno v:
Journal of Pathology, 208(5), 699-707. John Wiley & Sons Ltd.
PTEN is frequently inactivated during the development of many cancers, including prostate cancer, and both bi-allelic and mono-allelic PTEN inactivation may contribute to tumorigenesis. PTEN mutations in clinical cancer specimens can easily be record
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f43a67382dc6dc96a03087a218ab339
https://doi.org/10.1002/path.1929
https://doi.org/10.1002/path.1929
Publikováno v:
Sexual Development, 5, 167-180. Karger
Malignant germ cell tumor (GCT) formation is a well-known complication in the management of patients with a disorder of sex development (DSD). DSDs are defined as congenital conditions in which development of chromosomal, gonadal, or anatomical sex i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c020ac7de12f8c94fa4a083b67a38e0
https://pubmed.ncbi.nlm.nih.gov/21791949
https://pubmed.ncbi.nlm.nih.gov/21791949
Autor:
Jwb, Groot, Tp, Links, Axel Themmen, Lhj, Looijenga, Ronald de Krijger, Peter van Koetsveld, Hans Hofland, Den Berg, G., Leo Hofland, Feelders, R. A.
Publikováno v:
European Journal of Endocrinology, 163(2), 293-299. Bioscientifica Ltd
EUR Research Portal
EUR Research Portal
Objective: Aberrant adrenal expression of various hormone receptors has been identified in ACTH-independent macronodular adrenal hyperplasia (AIMAH) causing cortisol hypersecretion regulated by hormones other than ACTH. We aimed to determine aberrant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4c85ae9a651d116c4be622e55f888bb4
https://pure.eur.nl/en/publications/17fadc73-957c-4e2c-9792-7f4b0d932ec6
https://pure.eur.nl/en/publications/17fadc73-957c-4e2c-9792-7f4b0d932ec6
Autor:
H. Stoop, R.R. de Krijger, Carsten Bokemeyer, Friedemann Honecker, Lhj Looijenga, Martine Cools
Publikováno v:
Human Reproduction, 20(6), 1466-1476. Oxford University Press
Human Reproduction
Human Reproduction
BACKGROUND: In the development of the human ovary, the second trimester includes the transition from oogonial replication to primordial follicle formation. The present study was carried out to assess differentiation and proliferation of germ cells in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69d7434eb538eea874c5aaf60b65185d
https://pure.eur.nl/en/publications/0d208579-ad93-40ad-8e43-5ec8d89de0fc
https://pure.eur.nl/en/publications/0d208579-ad93-40ad-8e43-5ec8d89de0fc
Autor:
Katja P. Wolffenbuttel, Anna Wedell, Piet Hoebeke, Michela Barbaro, Lhj Looijenga, Sls Drop, Martine Cools, Hennie T. Brüggenwirth, Remko Hersmus
Publikováno v:
Journal of Pediatric Urology. 6:S87-S88
Purpose SF-1 is involved in gonadal and adrenal development, sex differentiation and steroidogenesis. 14 different SF-1 mutations have been described. Discrepancy between a severely undervirilised phenotype and intact testicular architecture and Wolf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9621c9ecedccece6aef1acac99911a07
https://doi.org/10.1016/j.jpurol.2010.02.169
https://doi.org/10.1016/j.jpurol.2010.02.169
Autor:
Jw Oosterhuis, H. Stoop, Piet Hoebeke, B. Deleeuw, Martine Cools, Remko Hersmus, Lhj Looijenga, Sls Drop, Katja P. Wolffenbuttel
Publikováno v:
Journal of Pediatric Urology. 6:S88
Purpose The decision to perform gonadectomy in patients with 45,X/46,XY mosaicism is often difficult: the increased gonadal tumor risk has to be balanced against the functional capacity of the gonad and the psychological burden of gonadectomy. Materi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56080270bfea5b2833316612a24dae1b
https://doi.org/10.1016/j.jpurol.2010.02.170
https://doi.org/10.1016/j.jpurol.2010.02.170
Publikováno v:
ResearcherID
British Jounal of Cancer, 71(1), 73-77. Nature Publishing Group
Scopus-Elsevier
University of Groningen
British Jounal of Cancer, 71(1), 73-77. Nature Publishing Group
Scopus-Elsevier
University of Groningen
The presence of the BCL-2 protein was studied in nine non-Hodgkin's lymphomas with testicular localisation. A consistent presence of the BCL-2 protein was found. The chromosomal translocation (14;18) was seen neither by cytogenetic analysis (n = 4) n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::470ea6f1785aa7ad81f3e4d014221ad6
https://www.ncbi.nlm.nih.gov/pubmed/7819053
https://www.ncbi.nlm.nih.gov/pubmed/7819053