Influence of sex of the transmitting parent as well as of parental allele site on the CTG expansion in myotonic dystrophy (DM)
HG Brunner, HT Brüggenwirth, W Nillesen… - American journal of …, 1993 - ncbi.nlm.nih.gov
In patients with myotonic dystrophy (DM), the severity of clinical signs is correlated with the
length of a (CTG) n trinucleotide repeat sequence. This sequence tends to expand in …
length of a (CTG) n trinucleotide repeat sequence. This sequence tends to expand in …
Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation
AF van Lieburg, MAJ Verdijk, F Schoute… - Human genetics, 1995 - Springer
Nephrogenic diabetes insipidus (NDI) usually shows an X-linked recessive mode of inheritance
caused by mutations in the vasopressin type 2 receptor gene (AVPR2). In the present …
caused by mutations in the vasopressin type 2 receptor gene (AVPR2). In the present …
Bone disorders in the dog: A review of modern genetic strategies to find the underlying causes
RE Everts, HAW Hazewinkel, J Rothuizen… - Veterinary …, 2000 - Taylor & Francis
… Lantinga-van Leeuwen IS, Mol JA, Kooistra HS, Rijnberk A, Breen M, Renier C, Oost BA van.
… Slappendel RJ, Versteeg SA, Zon P van, Rothuizen J, and Oost BA van. DNA analysis in …
… Slappendel RJ, Versteeg SA, Zon P van, Rothuizen J, and Oost BA van. DNA analysis in …
Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus
NVAM Knoers, AMW van den Ouweland, M Verdijk… - Kidney international, 1994 - Elsevier
… OUwELAND A VAN DEN, KNOOP MT, KNOER5 yAM, MARKSLAG PWB, RoccHI M,
WARREN ST, ROPERS HH, OosT BA VAN: Co-localization of the gene for nephrogenic diabetes …
WARREN ST, ROPERS HH, OosT BA VAN: Co-localization of the gene for nephrogenic diabetes …
Evidence that platelet density depends on the alpha-granule content in platelets
BA van Oost, AP Timmermans, JJ Sixma - 1984 - ashpublications.org
The relation between platelet buoyant density and beta-thromboglobulin (beta-TG), a marker
for platelet alpha-granule content, was assessed by three independent approaches. (1) …
for platelet alpha-granule content, was assessed by three independent approaches. (1) …
Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome
N Knoers, H Van der Heyden, BA Van Oost, HH Ropers… - Human genetics, 1988 - Springer
Ten families with nephrogenic diabetes insipidus (NDI) have been analysed for restriction
fragment length polymorphisms (RFLPs). A search for linkage was performed using various …
fragment length polymorphisms (RFLPs). A search for linkage was performed using various …
Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications
JF Samsom, C Jakobs, PG Barth, JIP de Vries… - European journal of …, 1994 - Springer
In two sibs antenatal ultrasonography revealed identical intracranial calcification, ventricular
widening and microcephaly. The first pregnancy was artificially terminated at 19 weeks. Post…
widening and microcephaly. The first pregnancy was artificially terminated at 19 weeks. Post…
Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome
DD De Vries, CJM Buzing, W Ruitenbeek… - Neuromuscular …, 1992 - Elsevier
… Wries DD de, Ruitenbeek W, Oost BA van. Detection of extremely low levels of wild type
mitochondrial DNA in the liver of a patient with Pearson's syndrome by a sensitive PCR assay. J …
mitochondrial DNA in the liver of a patient with Pearson's syndrome by a sensitive PCR assay. J …
Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus
N Knoers, H Van Der Heyden, BA Van Oost… - Genomics, 1989 - Elsevier
The gene for X-linked nephrogenic diabetes insipidus (NDI), a disorder which, if untreated,
causes severe dehydration, mental retardation, and possibly death in affected males, has …
causes severe dehydration, mental retardation, and possibly death in affected males, has …
Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis
BA Van Oost, PM Van Zandvoort, W Tünte, HG Brunner… - Human genetics, 1991 - Springer
We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII
gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight …
gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight …