Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Mild dysmorphic features"'
Akademický článek
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Autor:
Marta Grispo, Andrea Montella, Bruno Dallapiccola, Sara Loddo, Simona Riccio, Viola Alesi, Antonio Novelli, Lucia Ulgheri
Publikováno v:
European Journal of Medical Genetics. 60:220-223
Interstitial deletions of the long arm of chromosome 12 are rare and only few cases have been reported in literature so far, with different phenotypic features related to size and gene content of deleted regions. Five patients reported a 12q15-q21 de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea62db9f0ae648e9be2c2dca2097ee51
https://doi.org/10.1016/j.ejmg.2017.01.009
https://doi.org/10.1016/j.ejmg.2017.01.009
Autor:
Yavuz Sahin, Aysegül Özcan
Publikováno v:
Türk Üroloji Dergisi/Turkish Journal of Urology. 43:390-392
DiGeorge syndrome (DGS) is one of the most frequently seen chromosomal abnormalities. The major genetic cause of DGS is a microdeletion on chromosome 22q11.2. Majority of the cases are diagnosed during their childhood. DGS is rarely considered and di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe1037b80779899d36248ae45676de3
https://doi.org/10.5152/tud.2017.08555
https://doi.org/10.5152/tud.2017.08555
Publikováno v:
Journal of Pediatric Neurology. :063-068
Epilepsy is found to be frequently associated with many chromosomal disorders. We describe a 5-year-old boy with recurrent absence seizures, developmental delay, hypomelanosis of Ito, facial asymmetry and mild dysmorphic features that has tissue spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e9abe80fdbce6f358079cffc9300c496
https://doi.org/10.3233/jpn-2010-0442
https://doi.org/10.3233/jpn-2010-0442
Autor:
Ruth Newbury-Ecob, Sahar Mansour, Rob Hastings, John Ferguson, Peter S. Mortimer, Glen Brice, Shymalar Gunatheesan
Publikováno v:
American Journal of Medical Genetics Part A. 155:2762-2765
We present a boy with congenital lymphedema, a congenital heart defect (coarctation of the aorta), and mild dysmorphic features. Clinical impression and targeted investigations ruled out Noonan syndrome and Milroy syndrome, but it was not clear wheth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc8051aeaaa2e0840f1561c3c25f4584
https://doi.org/10.1002/ajmg.a.34188
https://doi.org/10.1002/ajmg.a.34188
Autor:
Katzaki, E, Morin, G, Pollazzon, M, Papa, Ft, Buoni, S, Hayek, J, Andrieux, J, Lecerf, L, Popovici, C, Receveur, A, MATHIEU DRAMARD, M, Renieri, Alessandra, Mari, Francesca, Philip, N., Papa, FILOMENA TIZIANA
Publikováno v:
American Journal of Medical Genetics Part A. :1711-1717
During the last few years, an increasing number of microdeletion/microduplication syndromes have been delineated. This rapid evolution is mainly due to the availability of microarray technology as a routine diagnostic tool. Microdeletions of the 21q2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f36957cf59dc606b323f87eec71fe8ac
https://doi.org/10.1002/ajmg.a.33478
https://doi.org/10.1002/ajmg.a.33478
Akademický článek
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Publikováno v:
American Journal of Medical Genetics. :66-70
The 18q- syndrome is relatively common among cytogenetic abnormalities occurring in approximately 1 in 40,000 live births. However, interstitial deletions involving 18q12.2 to q21.1 are much less common. Only 15 cases have been reported in the litera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f258fb68fe8933ae47e69b68ccb003b
https://doi.org/10.1002/ajmg.a.10217
https://doi.org/10.1002/ajmg.a.10217
Autor:
Michael B. Petersen, Loretta Thomaidis, Emmanouil Manolakos, George Daskalakis, Magdalini Lagou, George Kitsos, Eleftherios Anastasakis, Ioannis Papoulidis, Maria Kontodiou, Vasileios Papadopoulos, Sandro Orru
Publikováno v:
Molecular Cytogenetics
Lagou, M, Papoulidis, I, Orru, S, Papadopoulos, V, Daskalakis, G, Kontodiou, M, Anastasakis, E, Petersen, M B, Kitsos, G, Thomaidis, L & Manolakos, E 2014, ' A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics ', Molecular Cytogenetics, vol. 7, no. 1, 92 . https://doi.org/10.1186/s13039-014-0092-5
Lagou, M, Papoulidis, I, Orru, S, Papadopoulos, V, Daskalakis, G, Kontodiou, M, Anastasakis, E, Petersen, M B, Kitsos, G, Thomaidis, L & Manolakos, E 2014, ' A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics ', Molecular Cytogenetics, vol. 7, no. 1, 92 . https://doi.org/10.1186/s13039-014-0092-5
BACKGROUND: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies.RE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee389acccab7dcee76a7bb5b986a267
http://europepmc.org/articles/PMC4265435
http://europepmc.org/articles/PMC4265435
Autor:
Benjamin D. Solomon, Eileen Lange, Jay Shubrook, F. John Service, Gail Herman, Rajaram J. Karne, Phillip Gorden, Maximilian Muenke, Constantine A. Stratakis
Publikováno v:
American journal of medical genetics. Part A. (6)
We present a 56-year-old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found to have a heterozygous 8.09
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::766a7e7e5003a7fee88bec7f712ab35e
https://pubmed.ncbi.nlm.nih.gov/20503333
https://pubmed.ncbi.nlm.nih.gov/20503333