Zobrazeno 1 - 7
of 7
pro vyhledávání: '"H A, Heilstedt"'
Publikováno v:
Clinical genetics. 64(4)
Monosomy 1p36 is a relatively common chromosome deletion. Deletion of this chromosome band can be difficult to visualize using routine cytogenetic banding techniques. The use of fluorescence in situ hybridization (FISH) with telomere region-specific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bf6d951c23ac80a62270b54bd0734396
https://pubmed.ncbi.nlm.nih.gov/12974736
https://pubmed.ncbi.nlm.nih.gov/12974736
Publikováno v:
American journal of medical genetics. 94(2)
We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::75fbc100bab6c48350c545260065df40
https://pubmed.ncbi.nlm.nih.gov/10982966
https://pubmed.ncbi.nlm.nih.gov/10982966
Publikováno v:
Clinical genetics. 56(2)
Chromosome 1p duplications are rare. There have been only 11 reported cases of isolated 1p duplication, all of which were proximal, interstitial duplications. We present a patient with a terminal duplication of 1p (1p36.3). To our knowledge, this is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1da79dbf378775f1f357e850cca95c71
https://pubmed.ncbi.nlm.nih.gov/10517248
https://pubmed.ncbi.nlm.nih.gov/10517248
Autor:
Albuloushi, Ahmad1 (AUTHOR), Lovgren, Marie‐Louise2,3 (AUTHOR), Steel, Ainsley1 (AUTHOR), Yeoh, Yeelon1 (AUTHOR), Waters, Alex2 (AUTHOR), Zamiri, Mozheh2,4 (AUTHOR), Martin, Patricia E.1 (AUTHOR) patricia.martin@gcu.ac.uk
Publikováno v:
Experimental Dermatology. Oct2020, Vol. 29 Issue 10, p970-979. 10p.
Autor:
Brunetti‐Pierri, Nicola1,2, Torrado, Maria3, Fernandez, Maria del Carmen4, Tello, Ana Maria4, Arberas, Claudia L.4, Cardinale, Antonella1, Piccolo, Pasquale1, Bacino, Carlos A.5
Publikováno v:
Molecular Genetics & Genomic Medicine. Nov2014, Vol. 2 Issue 6, p467-471. 5p.
Autor:
Rashidian, Juliet, Le Scolan, Erwan, Xiaodan Ji, Qingwei Zhu, Kunxin Luo, Mulvihill, Melinda M., Nomura, Daniel
Publikováno v:
Science Signaling; 2/10/2015, Vol. 8 Issue 363, p1-11, 11p
Autor:
Heilstedt, Heidi A., Burgess, Daniel L., Anderson, Anne E., Chedrawi, Aziza, Tharp, Barry, Lee, Olivia, Kashork, Catherine D., Starkey, David E., Wu, Yuan-Qing, Noebels, Jeffrey L., Shaffer, Lisa G., Shapira, Stuart K.
Publikováno v:
Epilepsia (Series 4); 2001, Vol. 42 Issue 9, p1103, 9p, 2 Black and White Photographs, 1 Diagram, 1 Chart