Zobrazeno 1 - 10 of 132 pro vyhledávání: '"13q deletion syndrome"'
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Akademický článek
Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1–34 deletion: case report and literature review
Autor: Xue He, Huijun Shen, Haidong Fu, Chunyue Feng, Zhixia Liu, Yanyan Jin, Jianhua Mao
Publikováno v: BMC Pediatrics, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background 13q33–q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evide
Externí odkaz: https://doaj.org/article/a7c9e45cd20e4f8dab65b732ecc0faa5
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3
Akademický článek
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature
Autor: Ilaria Bestetti, Alessandra Sironi, Ilaria Catusi, Milena Mariani, Daniela Giardino, Siranoush Manoukian, Donatella Milani, Lidia Larizza, Chiara Castronovo, Palma Finelli
Publikováno v: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Abstract Background The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retardation, craniofacial d
Externí odkaz: https://doaj.org/article/0570ebe09aca4a4b9479ae0401ee1d6a
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4
Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1–34 deletion: case report and literature review
Autor: Huijun Shen, Yanyan Jin, Zhixia Liu, Jianhua Mao, Chunyue Feng, Xue He, Haidong Fu
Publikováno v: BMC Pediatrics, Vol 20, Iss 1, Pp 1-6 (2020)
BMC Pediatrics
Background 13q33–q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evidence of th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb623d1c15277847716a9afe20e85281
http://link.springer.com/article/10.1186/s12887-020-02205-7
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Acute Orbital Compromise after Intra-Arterial Chemotherapy in a Complex Retinoblastoma Associated with 13q Deletion Syndrome
Autor: Veronica Kon Graversen, Sophia El Hamichi, Dhariana Acon, Audina M. Berrocal, Timothy G. Murray, Aaron S. Gold
Publikováno v: Pediatric Neurosurgery. 55:295-298
Introduction: The intra-arterial chemotherapy (IAC) is increasingly used as a first-line therapy for retinoblastoma. The IAC has proved to be relatively safe. However, many local side effects of IAC have been described. Case Presentation: This case r
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2c6d595effcfc2e2859fcbb179640a9d
https://doi.org/10.1159/000511019
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6
Deficiency of coagulation factor Vll in a 4 years old child with 13q deletion syndrome: a case report
Autor: Ghada Ajwa, Basel Dahlawi, Soltan Hassan, Housam Al Madani
Publikováno v: Hematology & Transfusion International Journal. 9:1-3
Background: Factor VII deficiency is rare inherited bleeding disorders, have been identified in the Factor VII gene located on chromosome 13 with very few cases reported. Factor VII deficiency was first described by Alexander et al. in 1951.The disor
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2b9f619ac089eb1ef1b2cbcd4130f23
https://doi.org/10.15406/htij.2020.09.00242
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13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay
Autor: Anna Maria Pinto, Arianna Calonaci, Daniela Galimberti, Alessandra Renieri, Flavia Privitera, Francesca Ariani, Francesca Mari, Gabriella Doddato, Margherita Baldassarri, Ilaria Longo, Sonia De Francesco, Filomena Tiziana Papa, Mauro Caini, Theodora Hadjistilianou
Publikováno v: Genes
Volume 12
Issue 9
Genes, Vol 12, Iss 1318, p 1318 (2021)
Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the RB1 gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineating a contigu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b6bd79585ab13f745ff36a7544cf483
http://europepmc.org/articles/PMC8471443
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A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene
Autor: Gwen Minzes, Ramachandra Bhat, Rozaleen Phaltas, Trassanee Chatmethakul, Jose E. Martinez
Publikováno v: J Pediatr Genet
We report a rare co-occurrence of intestinal malrotation and Hirschsprung's disease (HSCR) in a male neonate with a large 38.8 Mb interstitial deletion of chromosome 13 extending from q21.31 to q33.1 including the EDNRB gene, who presented with crani
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce3b2e2f7280c9e5e3c6cb873ca6ca7
https://doi.org/10.1055/s-0038-1677551
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10
Retinoblastoma and mosaic 13q deletion: a case report
Autor: Yania Yáñez, Pablo Gargallo, Margarita Llavador, Honorio Barranco, Silvestre Oltra, Julia Balaguer, Adela Cañete, Vanessa Segura, Victoria Castel, Antonio Juan-Ribelles, Inés Calabria
Publikováno v: Gargallo, Pablo Oltra Soler, Juan Silvestre Balaguer Guill, Julia Barranco, Honorio Yáñez Peralta, Yania Segura, Vanessa Juan Ribelles, Antonio Calabria, Inés Llavador, Margarita Castel Sánchez, Victoria Cañete Nieto, Adela 2021 Retinoblastoma and mosaic 13q deletion: a case report International Journal of Retina and Vitreous 7 50 1 6
International Journal of Retina and Vitreous, Vol 7, Iss 1, Pp 1-6 (2021)
RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname
International Journal of Retina and Vitreous
Background Patients with 13q-syndrome are at risk of retinoblastoma when the RB1 gene, located in the chromosomal band 13q14.2, is deleted. This syndrome is frequently associated with congenital malformations and developmental delay, although these s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66ee2926fb415ec68b0e4b737ac112a1
https://hdl.handle.net/10550/82397
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