Search Results - "Hahnemann, J M"

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus by MACKAY, D. J. G, HAHNEMANN, J. M. D, CLAYTON-SMITH, J, TEMPLE, I. K, BOONEN, S. E, POERKSEN, S, BUNYAN, D. J, WHITE, H. E, DURSTON, V. J, THOMAS, N. S, ROBINSON, D. O, SHIELD, J. P. H

“…Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically…”
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Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries by Olsen, Jørgen H., Hahnemann, Johanne M., Børresen-Dale, Anne-Lise, Brøndum-Nielsen, Karen, Hammarström, Lennart, Kleinerman, Ruth, Kääriäinen, Helena, Lönnqvist, Tuula, Sankila, Risto, Seersholm, Niels, Tretli, Steinar, Yuen, Jonathan, Boice, John D., Tucker, Margaret

“…Background: Epidemiologic studies of the families of patients with ataxia-telangiectasia (A-T), a recessive genetic neurologic disorder caused by mutation of…”
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A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus by MACKAY, D. J. G, BOONEN, S. E, SHIELD, J. P. H, WHITE, H. E, TEMPLE, I. K, CLAYTON-SMITH, J, GOODSHIP, J, HAHNEMANN, J. M. D, KANT, S. G, NJOLSTAD, P. R, ROBIN, N. H, ROBINSON, D. O, SIEBERT, R

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Accuracy of cytogenetic findings on Chorionic Villus Sampling (CVS)-diagnostic consequences of CVS Mosaicism and non-Mosaic Discrepancy in Centres contributing to EUCROMIC 1986-1992 by Hahnemann, Johanne M., Vejerslev, Lars O.

“…Of 62 865 karyotyped chorionic villus (CV) samples that were reported to EUCROMIC 1986–1992, 98.5 per cent showed either a normal karyotype (true negative…”
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A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus by Mackay, D J G, Boonen, S E, Clayton-Smith, J, Goodship, J, Hahnemann, J M D, Kant, S G, Njølstad, P R, Robin, N H, Robinson, D O, Siebert, R, Shield, J P H, White, H E, Temple, I K

“…The expression of imprinted genes is mediated by allele-specific epigenetic modification of genomic DNA and chromatin, including parent of origin-specific DNA…”
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Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia by Laake, K., Jansen, L., Hahnemann, J.M., Brøndum-Nielsen, K., Lönnqvist, T., Kääriäinen, H., Sankila, R., Lähdesmäki, A., Hammarström, L., Yuen, J., Tretli, S., Heiberg, A., Olsen, J.H., Tucker, M., Kleinerman, R., Børresen-Dale, A-L.

“…The Ataxia Telangiectasia Mutation (ATM) gene is mutated in the rare recessive syndrome Ataxia Telangiectasia (AT), which is characterized by cerebellar…”
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Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia by OLSEN, J. H, HAHNEMANN, J. M. D, BRØNDUM-NIELSEN, K, YUEN, J, TUCKER, M, BØRRESEN-DALE, A.-L, TRETLI, S, KLEINERMAN, R, SANKILA, R, HAMMARSTRÖM, L, ROBSAHM, T. E, KÄÄRIÄINEN, H, BREGARD, A

“…Epidemiological studies have consistently shown elevated rates of breast cancer among female blood relatives of patients with ataxia telangiectasia (AT), a…”
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Late relapse of adrenocortical carcinoma in Beckwith-Wiedemann syndrome. Clinical, endocrinological and genetic aspects by Hertel, NT, Carlsen, N, Kerndrup, G, Pedersen, IL, Clausen, N, Hahnemann, JMD, Jacobsen, BB

“…We report on a girl with an unusual Beckwith‐Wiedemann syndrome (BWS) and hemihypertrophy, who developed an adrenocortical carcinoma with atypical clinical…”
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European collaborative research on mosaicism in CVS (EUCROMIC)-fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy by Hahnemann, Johanne M., Vejerslev, Lars O.

“…Cytogenetic information on cells from cytotrophoblast, villus mesenchyme, and one or more fetal tissues was available for 192 gestations with mosaicism or…”
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Prenatal and postnatal prevalence of Turner's syndrome. No reason to doubt standard of prenatal diagnosis by Hahnemann, J M, Vejerslev, L O

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Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UPD

“…Different origins for trisomy 15 mosaicism confined to the placenta have been suggested. We have analysed the data on trisomy 15 mosaicism in EUCROMIC. Trisomy…”
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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation by Grønskov, Karen, Poole, Rebecca L, Hahnemann, Johanne M D, Thomson, Jennifer, Tümer, Zeynep, Brøndum-Nielsen, Karen, Murphy, Rinki, Ravn, Kirstine, Melchior, Linea, Dedic, Alma, Dolmer, Birgitte, Temple, I Karen, Boonen, Susanne E, Mackay, Deborah J G

“…Silver-Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorphic facial features, and body asymmetry. In 35-60% of SRS…”
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Reply: Increased risk of breast cancer among female relatives of patients with Ataxia-Telangiectasia: a causal relationship? by Olsen, J H, Hahnemann, J M D, Børresen-Dale, A-L, Tretli, S, Kleinerman, R, Sankila, R, Hammarström, L, Robsahm, T E, Kääriäinen, H, Bregård, A, Brøndum-Nielsen, K, Yuen, J, Tucker, M

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Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism by Karadima, G, Bugge, M, Nicolaidis, P, Vassilopoulos, D, Avramopoulos, D, Grigoriadou, M, Albrecht, B, Passarge, E, Annerén, G, Blennow, E, Clausen, N, Galla-Voumvouraki, A, Tsezou, A, Kitsiou-Tzeli, S, Hahnemann, J M, Hertz, J M, Houge, G, Kuklík, M, Macek, M, Lacombe, D, Miller, K, Moncla, A, López Pajares, I, Patsalis, P C, Petersen, M B

“…Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms…”
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Absence of nasal bone and detection of trisomy 21 by Hutchon, David JR

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There is no basis to doubt the reliability of prenatal diagnosis and counseling in Turner syndrome. Misleading registry studies by Hahnemann, J M, Brøndum-Nielsen, K

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Quality assurance of chromosome examinations in the samples of amniotic fluid and placenta. A 6-year follow-up: no sign of analytic errors in 6384 samples by Brøndum-Nielsen, K, Hahnemann, J M

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Absence of nasal bone and detection of trisomy 21 by Hjalgrim, Helle, Hahnemann, Johanne M, Kjaer, Inger, Broendum-Nielsen, Karen

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Microdeletion of 22q11, DiGeorge and velocardiofacial syndrome by Hjalgrim, H, Hahnemann, J M, Timshel, S, Brøndum-Nielsen, K

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No reason to doubt standard of prenatal diagnosis by Hahnemann, Johanne M, Vejerslev, Lars O

“…EDITOR,-As participants in the European collaborative research on mosaicism in chorion villus sampling, we wish to comment on Claus Hojbjerg Gravholt and…”
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