Results 171 to 180 of about 48,299 (209)

Trisomie 13 En Trisomie 18

2003
De bekendste numerieke chromosoomafwijking is trisomie 21, ofwel Downsyndroom (zie vorige hoofdstuk). Kinderen met trisomie 13 (vroeger ook wel syndroom van Patau genoemd) of trisomie 18 (het vroegere syndroom van Edwards) zijn veel minder bekend omdat ze in de regel niet lang overleven en maar kort thuis kunnen zijn.
C. T. R. M. Schrander-Stumpel, H. de Nijs Bik   +1 more
openaire   +1 more source

FAMILIAL NEUROBLASTOMA AND TRISOMY 13

Archives of Pediatrics & Adolescent Medicine, 1971
To the Editor .—The association of familial neuroblastoma and trisomy 13, to our knowledge, has not been reported. For this reason such an unusual set of circumstances should be briefly noted. A 2½-year-old white girl was admitted to the Boston Floating Hospital for Infants and Children with a three week history of pain in the lower extremities and ...
M, Feingold, G J, Gheradi, C, Simons
openaire   +2 more sources

Pseudo‐trisomy 13 syndrome

American Journal of Medical Genetics, 1991
AbstractWe have coined the term “pseudo‐trisomy 13 syndrome” to designate cases of holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and normal chromosomes. Eleven instances are summarized. Two pairs of sibs and two other cases with consanguinity suggest autosomal recessive inheritance.
M M, Cohen, R J, Gorlin
openaire   +2 more sources

Trisomy 13

Pediatrics In Review, 2023
openaire   +2 more sources

Cyclopia with Trisomy 13

Australian and New Zealand Journal of Obstetrics and Gynaecology, 1987
C Y, Huang, J H, Chiang, G P, Yeh, P H, Chou, H J, Shiau, Y S, Lai, S Y, Li   +6 more
openaire   +2 more sources

Trisomy 13 Syndrome

Otology & Neurotology, 2008
Hisaki, Fukushima, Tamotsu, Harada, Norimasa, Morita, Michael M, Paparella   +3 more
openaire   +2 more sources

[Heart malformations in trisomy 13 and trisomy 18].

Revista espanola de cardiologia, 1992
Congenital heart diseases were studied in children diagnosed of trisomy 13 and trisomy 18 in our hospital between January 1973 and July 1990. Twenty patients with trisomy 18 were diagnosed (18 females and two males). All had cardiac malformations. The findings were: ventricular septal defect in 16 cases (80%), valvular anomalies in 12 (63%), patent ...
M A, Lizárraga, S, Mintegui, J, Sánchez Echániz, J M, Galdeano, E, Pastor, A, Cabrera   +5 more
openaire   +1 more source

Trisomy 13

2009
Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Deborah Bartholdi, Albert Schinzel, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Hugo Ten Cate, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Hugo Ten Cate, Hugo Ten Cate, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, Hugo Ten Cate, Hugo Ten Cate, Hugo Ten Cate, Hugo Ten Cate, André B. P. Van Kuilenburg, Albert H. Van Gennip*, Alexander K. C. Leung, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Seda Sancak, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mario Vaccaro, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, Deborah Bartholdi, Albert Schinzel, John Wolstenholme, Deborah Bartholdi, Albert Schinzel, Alexander K. C. Leung, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, Fumio Endo, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, Fumio Endo, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, Fumio Endo   +145 more
openaire   +3 more sources

Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18

Journal of Pediatrics, 2022
Donnamaria E Cortezzo, Leandra K Tolusso, Daniel T Swarr   +2 more
exaly  

Trisomy 13

Seminars in Roentgenology, 1973
Andrew K. Poznanski, John F. Holt
openaire   +1 more source