Zobrazeno 1 - 10
of 41
pro vyhledávání: '"W J, Hustinx"'
AN X-LINKED SYNDROME WITH MICROCEPHALY, SEVERE MENTAL RETARDATION, SPASTICITY, EPILEPSY AND DEAFNESS
Autor:
H. H. J. Jasper, Fons J. M. Gabreëls, U. J. G. Haelst, J. A. G. Geelen, Willy O. Renier, T. W. J. Hustinx
Publikováno v:
Journal of Intellectual Disability Research. 26:27-40
THE MARTIN-BELL SYNDROME: A PSYCHOLOGICAL, LOGOPAEDIC AND CYTOGENETIC STUDY OF TWO AFFECTED BROTHERS
Autor:
Dominique Smeets, A. J. A. M. Bomers, T. W. J. Hustinx, Willy O. Renier, Fons J. M. Gabreëls, J. M. J. C. Scheres, C. F. C. Hulsmans, C. P. M. O. Ophey
Publikováno v:
Journal of Intellectual Disability Research. 27:51-59
Publikováno v:
Clinical Genetics. 18:456-461
This paper describes the unexpected transmission of a translocation (22;22)(p13;q11) from a mother to her phenotypically normal daughter (the proband). Both women had had multiple abortions. No signs of mosaicism with respect to chromosome No. 22 wer
Autor:
H.J. ter Laak, Willy O. Renier, Fons J. M. Gabreëls, T. W. J. Hustinx, F. A. E. Nabben, J.H. Veerkamp, B. J. Otten, B. G. A. ter Haar
Publikováno v:
Clinical Genetics. 24:243-251
2Department of Pediatrics, Groot Ziekengasthuis, 's Hertogenbosch, The Netherlands A family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characte
Autor:
C. J. van Asperen, A. S. P. M. Breed, J. O. Van Hemel, K. Madan, A. J. H. Hamers, L. P. Kuyt, J. M. de Pater, Dominique Smeets, T. W. J. Hustinx, M.H.E.C. Pieters, K. B. J. Gerssen-Schoorl
Publikováno v:
HUMAN GENETICS, 85(1), 15-20. SPRINGER
We report the result of investigations from 20 families with 72 carriers of the paracentric inversion inv(11)(q21q23) in the Netherlands. There is no increase in the rate of spontaneous abortions among carriers of the inversion or their partners. Als
Autor:
Jacques M. J. C. Scheres, Theo W. J. Hustinx, Corry M.R. Weemaes, R. D. F. M. Taalman, Angela Schmidt, E. Passarge, Eva Seemanova
Publikováno v:
American Journal of Medical Genetics. 32:425-431
We report on five independent families with a chromosome instability disorder that earlier had been called the Nijmegen breakage syndrome (NBS). These families, two from the Netherlands and three from Czechoslovakia, had a total of eight patients, fi
Publikováno v:
Cancer Genetics and Cytogenetics. 22:69-73
We describe herein a translocation, t(1;3)(p36;q21), that was found in the bone marrow of a patient with acute myelomonocytic leukemia preceded by a long lasting myelodysplastic phase. An identical translocation has been reported in three other myelo
Publikováno v:
British Journal of Haematology. 37:101-109
Summary. Clinical and laboratory data are presented for two patients with a dyshaematopoietic disorder, and monosomy 7 in their bone marrow cells. The first patient, a 55–year-old woman, had been treated with chlorambucil for an ovarian carcinoma.
Autor:
Teunis J. Schouten, Roland Holland, Jacques M. J. C. Scheres, Theo W. J. Hustinx, Gérard A. M. de Vaan
Publikováno v:
Cancer. 52:1229-1236
Malignant histiocytosis (MH) was diagnosed on the cytologic and cytochemical features of the malignant cells present in bone marrow smears from an infant and a child. The diagnosis of MH was confirmed by light and electron microscopic studies on bone
Publikováno v:
British Journal of Haematology. 26:391-394
Summary. The case history of an adult patient with acute myelomonoblastic leukaemia is presented. The leukaemia developed 4 yr after the first irradiation for a Wilms' tumour. Approximately 35% of the bone marrow cells had 47 chromosomes and were tri