Search Results - "van der Hagen, C B"

Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection by Ørstavik, K.H., Eiklid, K., van der Hagen, C.B., Spetalen, S., Kierulf, K., Skjeldal, O., Buiting, K.

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Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q by Bull, Laura N., Roche, Erin, Song, Eyun J., Pedersen, Jan, Knisely, A.S., van der Hagen, C.B., Eiklid, Kristin, Aagenaes, Øystein, Freimer, Nelson B.

“…Patients with cholestasis-lymphedema syndrome (CLS) suffer severe neonatal cholestasis that usually lessens during early childhood and becomes episodic; they…”
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A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2 by Kjaer, K W, Eiberg, H, Hansen, L, van der Hagen, C B, Rosendahl, K, Tommerup, N, Mundlos, S

“…Background: Brachydactyly type A2 (OMIM 112600) is characterised by hypoplasia/aplasia of the second middle phalanx of the index finger and sometimes the…”
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Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome by Frühwirth, Martin, Janecke, Andreas R., Müller, Thomas, Carlton, Victoria E.H., Kronenberg, Florian, Offner, Felix, Knisely, A.S., Geleff, Silvana, Song, Eyun J., Simma, Burkhard, Königsrainer, Alfred, Margreiter, Raimund, van der Hagen, C.B., Eiklid, Kristin, Aagenaes, Øystein, Bull, Laura, Ellemunter, Helmut

“…Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has…”
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A correlative study of prenatal ultrasound and post‐mortem findings in fetuses and infants with an abnormal karyotype by Isaksen, C. V., Eik‐Nes, S. H., Blaas, H.‐G., Torp, S. H., Van Der Hagen, C. B., Ormerod, E.

“…Objective To compare ultrasound and post‐mortem findings in 98 fetuses and infants with an abnormal karyotype. Design Criteria for inclusion were an ultrasound…”
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Lethal acute gamma radiation accident at Kjeller, Norway. Report of a case by Stavem, P, Brøgger, A, Devik, F, Flatby, J, van der Hagen, C B, Henriksen, T, Hoel, P S, Høst, H, Kett, K, Petersen, B

“…On September 2, 1982, a 64-year-old man accidently received a heavy dose of gamma radiation in a plant for sterilization by radiation. He developed an acute…”
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Campomelic dysplasia : an underdiagnosed condition ? by NORMANN, E. K, PEDERSEN, J. C, STIRIS, G, VAN DER HAGEN, C. B

“…Campomelic dysplasia (CD) is a rare skeletal dysplasia. The incidence, reported in the literature, is 0.05-0.09 per 10,000 live births. During the period…”
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Deficiency of fumarylacetoacetase without hereditary tyrosinemia by Kvittingen, E A, Børresen, A L, Stokke, O, van der Hagen, C B, Lie, S O

“…A variant of the enzyme fumarylacetoacetase (FAH) (E.C.3.7.1.2) in healthy individuals, determined by the enzyme activity, is reported. Analysis of family…”
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Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3) by Tommerup, N, van der Hagen, C B, Heiberg, A

“…During a systematic chromosomal survey of 7 unrelated patients with Rubinstein-Taybi syndrome, an apparently balanced de novo reciprocal translocation,…”
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Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study Group by Gedde-Dahl, Jr, T, Trygstad, O, Van Maldergem, L, Magré, J, van der Hagen, C B, Olaisen, B, Stenersen, M, Mevåg, B

“…Five of the six families with the Berardinelli-Seip syndrome in Norway cluster in six adjacent rural municipalities of south-western Norway. The six patients…”
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Hereditary recurrent intrahepatic cholestasis from birth by Aagenaes, O., van der Hagen, C. B., Refsum, S.

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Hereditary pituitary dwarfism with spontaneous puberty by Seip, M., Van Der Hagen, C. B., Trygstad, O.

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Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection by Ørstavik, K H, Eiklid, K, van der Hagen, C B, Spetalen, S, Kierulf, K, Skjeldal, O, Buiting, K

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A hereditary abnormality as paternity evidence by van der Hagen, Carl Birger

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Chromosome changes in leukemia by van der Hagen, C B

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Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3 by BREUNING, M. H, DAUWERSE, H. G, VAN DEN BOOGAARD, M.-J, DE PATER, J. M, MARIMAN, E. C. M, HAMEL, B. C. J, HIMMELBAUER, H, FRISCHAUF, A.-M, STALLINGS, R. L, HAMEL, B. C. J, HIMMELBAUER, H, FUGAZZA, G, BEVERSTOCK, G. C, VAN OMMEN, G.-J. B, HENNEKAM, R. C. M, SARIS, J. J, SPRUIT, L, WIJNEN, H, TOMMERUP, N, VAN DER HAGEN, C. B, IMAIZUMI, K, KUROKI, Y

“…The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and…”
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Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome by Orstavik, K H, McFadden, N, Hagelsteen, J, Ormerod, E, van der Hagen, C B

“…Rothmund-Thomson syndrome is a rare autosomal recessive syndrome characterised by poikiloderma of the face and extremities, alopecia, short stature, and…”
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Genetic disease in general practice. An interview study among general practitioners in Oppland and Oslo by Hem, E, van der Hagen, C B, Solaas, M H

“…We interviewed 51 Norwegian general practitioners selected at random about their knowledge and practice of medical genetics. Of these doctors, 29 worked in…”
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Karyotyping of fetuses with developmental disorders. A 5-year material 1985-89 by Tuveng, J M, Eik-Nes, S H, Sviggum, O, Isaksen, C, Berg, K, Leren, T P, van der Hagen, C B

“…During the period 1985 to 1989 foetal chromosomal analysis was performed in 121 of 318 pregnant women with foetal malformations detected by ultrasound. There…”
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Cytogenetic analysis in acute leukemia by Brinch, L, Evensen, S A, Stavem, P, van der Hagen, C B

“…Leukemic cells often show clonal cytogenetic abnormalities. Some of these are strongly associated with certain morphological subgroups and seem to be of…”
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