Zobrazeno 1 - 10
of 309
pro vyhledávání: '"Herman Van den Berghe"'
Autor:
Herman Van den Berghe
Publikováno v:
Scandinavian Journal of Haematology. 36:78-81
Autor:
Herman Van den Berghe
Publikováno v:
European Journal of Haematology. 43:47-51
Much less is known about the chromosome changes in MM than in other hematological malignancies. The prevalence of abnormal karyotypes is unknown, but there is no evidence for malignant plasma cells or their precursors to have a normal karyotype. The
Publikováno v:
Clinical Genetics. 50:19-22
We report here on phenotype-karyotype correlations in two patients with and without complete features of the WHS but sharing the lack of a specific cosmic probe (D4S96/D4Z1) from 4p16.3. These findings indicate that WHS is true a contiguous gene dele
Autor:
Myriam Welkenhuysen, Gerry Evers-Kiebooms, Jean-Jacques Cassiman, Lieve Denayer, Herman Van den Berghe
Publikováno v:
Clinical Genetics. 46:336-343
The emotional impact of carrier detection for CF was assessed in a group of adults tested before 1992. Of the 200 adults who received a mailed questionnaire, 70% participated. One third were CF gene carriers. The Health Orientation Scale (HOS) was us
Publikováno v:
Clinical Genetics. 37:207-215
In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to assess the impact of the birth of their CF-child on subsequent family planning and to evaluate their attitudes towards prenatal diagnosis. Three years later, i
Autor:
Françoise Meire, Herman Van den Berghe, Eric Legius, Koen Devriendt, Lieve Standaert, Jean-Pierre Fryns, E Baten
Publikováno v:
Clinical Genetics. 49:237-241
We present the clinical findings and follow-up data of four female children with Cohen syndrome, two sisters and one pair of dizygotic female twins. The most characteristic findings from birth on were as follows: 1. Low-normal growth parameters at bi
Autor:
Gerry Evers-Kiebooms, Lieve Denayer, Myriam Welkenhuysen, Herman Van den Berghe, Jean-Jacques Cassiman
Publikováno v:
Clinical Genetics. 49:232-236
To evaluate whether the CF carrier status has any lasting effect on anxiety and on self-concept at least 1 year after the disclosure of the test result, an in-depth interview and additional psychological tests were administered in a group of adults w
Autor:
Krystyna H. Chrzanowska, Herman Van den Berghe, J. P. Fryns, Małgorzata Krajewska-Walasek, L. Wisniewski
Publikováno v:
Clinical Genetics. 35:157-160
In this report we present two unrelated patients with the postaxial dysostosis syndrome (Miller syndrome) and document further the phenotypic variability of the craniofacial stigmata and of the postaxial (and preaxial) upper and lower limb reduction
Publikováno v:
Clinical Genetics. 21:384-387
A 16-year-old female with short stature, Turner syndrome stigmata, gonadal infantilism and 45,X/46,X, idic(X) (pter q21: q21 pter) karyotype is reported. The replication kinetics of the abnormal X-chromosome were studied.
Publikováno v:
Clinical Genetics. 49:6-9
We report two brothers with congenital total alopecia, mental retardation, childhood convulsions and hypergonadotropic hypogonadism. This association has not previously been reported and probably represents a new autosomal recessive condition.