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6 results on '"U.G. Froster"'

1. Alpha-Thalassämie-Retardierungs-Syndrom

Author

Nicola Dikow, Ute Moog, C. Junge, Stephanie Karch, U.G. Froster, and Katrin Hinderhofer

Subjects
Gynecology, medicine.medical_specialty, Muscular hypotonia, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, Surgery, Alpha-thalassemia, business, medicine.disease, ATRX
Abstract

Das α-Thalassamie-Retardierungs-Syndrom (ATRX-Syndrom, MIM#301040) fuhrt bei Jungen zu schwerer mentaler Retardierung, Muskelhypotonie, fazialer Dysmorphie und Genitalfehlbildungen. Wir berichten uber eine Familie mit 2 betroffenen Knaben. Die Diagnose gelang mittels materner X-Inaktivierungsanalyse und molekulargenetischer Analyse des ATRX-Gens bei dem Sohn, wobei sich eine bislang noch nicht beschriebene Mutation in Exon 34 fand.

Published
2010
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2. Contents Vol. 26, 2009

Author

Aliza Amiel, A. Kujat, Matteo Fassan, Melanie Griffin, Byeong Min An, Dong Hee Choi, Hwa Sook Moon, F. Crispi, Myoung-Jin Moon, C. Brizzi, G. Mosiello, M. Davies, Bo Sun Joo, Renzo Manara, Murat Yayla, Hea-Ree Park, L.-C. Horn, George Attilakos, M. De Gennaro, Eun-Hee Ahn, Banu Dane, L. Mobili, E. Hernández-Andrade, Siho Kim, E. Gratacós, Mark L. Denbow, Cem Dane, S. Suri, Erich Cosmi, E. Jauniaux, S. Oliveira, Tae Yeong Choi, F. Figueras, A. Zaccara, Rosemary Greenwood, N. Ehrhardt, Hasan Buyukasik, I. Torre, A. Nadal, Deganit Itzhaky, D. Camanni, M.L. Capitanucci, U.G. Froster, R. Faber, Veronica Macchi, Silvia Visentin, Roberto Salmaso, Min-Jung Baek, Moshe D. Fejgin, E. Eixarch, Marguerite B. Vigliani, C. Giorlandino, Reuven Sharony, Mariasavina Severino, Howard Cuckle, and So Yeong Jeong

Subjects
Embryology, Pathology, medicine.medical_specialty, Traditional medicine, business.industry, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Medicine, Radiology, Nuclear Medicine and imaging, General Medicine, business
Published
2009
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3. Limb defects and chorionic villus sampling: results from an international registry, 1992-94

Author

U.G Froster and L Jackson

Subjects
medicine.medical_specialty, Population, Limb Deformities, Congenital, Chorionic villus sampling, Gestational Age, Prenatal diagnosis, World Health Organization, Congenital Abnormalities, Cohort Studies, Fetus, Pregnancy, medicine, Humans, Registries, education, Leg, education.field_of_study, medicine.diagnostic_test, business.industry, Obstetrics, Infant, Newborn, Gestational age, General Medicine, Publication bias, medicine.disease, Surgery, body regions, Chorionic Villi Sampling, Pediatrics, Perinatology and Child Health, Cohort, Arm, Female, Unexposed Population, business
Abstract

Summary Background Several reports of limb defects occurring among infants exposed to chorionic villus sampling (CVS) during pregnancy resulted in concern about the safety of this procedure for prenatal diagnosis. To avoid publication bias and evaluate the true risk of limb defects in a CVS cohort, the World Health Organization initiated international registration of post-CVS limb defects in 1992. Methods From May, 1992, to May, 1994, 77 infants or fetuses with limb defects from 138 996 pregnancies having CVS were reported to the WHO CVS Registry. These cases were analysed by standardised methods-ie, exclusion of syndromes, inherited disorders, and defects occurring in previable fetuses. The included limb deficiencies were studied by pattern analysis. Findings Defects of the upper limbs were reported in 64·6%, of the lower limbs in 12·5%, and of both upper and lower limbs in 20·8% of cases. These figures are in agreement with the distribution of limb defects in several large population-based studies. Transverse limb defects occurred in 40·8% and longitudinal defects in 59·2%, compared with 42·7% and 57·3% in an unexposed population. Interpretation The analysis of this cohort did not show any differences from the background population in the overall frequency or pattern distribution of limb deficiencies. There was also no correlation between gestational age at CVS and severity of defects. Therefore these results do not indicate any increased risk of limb defects after CVS.

Published
1996
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4. Limb defects and chorionic villus sampling

Author

SusanM. Huson, U.G. Froster, PatriciaA. Boyd, Laird G. Jackson, Helen V. Firth, LorenzoD. Botto, Pierpaolo Mastroiacovo, I. Z. Mackenzie, and P. Chamberlain

Subjects
medicine.medical_specialty, Pregnancy, medicine.diagnostic_test, Obstetrics, Limb defects, business.industry, medicine, Chorionic villus sampling, General Medicine, medicine.disease, business, Infant newborn
Published
1996
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5. Subject Index Vol. 26, 2009

Author

M.L. Capitanucci, Cem Dane, E. Eixarch, Hasan Buyukasik, Marguerite B. Vigliani, C. Giorlandino, R. Faber, Reuven Sharony, George Attilakos, F. Figueras, C. Brizzi, G. Mosiello, M. Davies, Mariasavina Severino, M. De Gennaro, L.-C. Horn, A. Kujat, Rosemary Greenwood, Min-Jung Baek, N. Ehrhardt, A. Nadal, So Yeong Jeong, Dong Hee Choi, Tae Yeong Choi, I. Torre, Moshe D. Fejgin, U.G. Froster, Siho Kim, Murat Yayla, F. Crispi, L. Mobili, Melanie Griffin, E. Gratacós, Howard Cuckle, Veronica Macchi, Renzo Manara, Matteo Fassan, Byeong Min An, Silvia Visentin, E. Hernández-Andrade, Banu Dane, S. Suri, Erich Cosmi, E. Jauniaux, Hwa Sook Moon, Mark L. Denbow, D. Camanni, Hea-Ree Park, S. Oliveira, Roberto Salmaso, Bo Sun Joo, A. Zaccara, Deganit Itzhaky, Eun-Hee Ahn, Aliza Amiel, and Myoung-Jin Moon

Subjects
Gerontology, Embryology, Index (economics), business.industry, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Medicine, Radiology, Nuclear Medicine and imaging, Subject (documents), General Medicine, business
Published
2009
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