Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Mine, Cinbiş"'
Autor:
Reinhard Ullmann, Nuran Sabir, Dilihan Gumus, Mine Cinbiş, Anne Steininger, Baki Yagci, Osvaldo M. Mutchinick, Emre Tepeli, C. Nur Semerci, Muhterem Bahçe, Serap Özden, Jazmín Arteaga
Publikováno v:
American Journal of Medical Genetics Part A. :1724-1729
We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2229de342c59a21c30d865462798b798
https://doi.org/10.1002/ajmg.a.33383
https://doi.org/10.1002/ajmg.a.33383
Publikováno v:
Pediatric Rheumatology Online Journal
Eosinophilic granulomatosis with polyangiitis or Churg-Strauss Syndrome (CSS) is rare in children. It is characterized by eosinophilia, extravascular necrotizing granuloma, and eosinophilic infiltration of multiple organs particularly lungs, but may
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db250a38f797840049052c5fe1f70f71
https://doi.org/10.1186/1546-0096-12-s1-p366
https://doi.org/10.1186/1546-0096-12-s1-p366
Publikováno v:
International Journal of Pediatric Otorhinolaryngology Extra. 2:31-33
Infectious mononucleosis is caused by Epstein-Barr virus, and is rarely seen in infancy. Clinical findings include exudative tonsillitis, generalized or cervical lymphadenopathy, and hepatosplenomegaly. Many complications can arise, but these rarely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650e79cfce91f1e705691388a1bdb15f
https://doi.org/10.1016/j.pedex.2006.11.005
https://doi.org/10.1016/j.pedex.2006.11.005
Terminal deletions of chromosome 14q are very rarely reported. Schneider et al. (2008) reviewed about 20 cases of 14q32 region deletion in a previous article and only three of the cases involved autosomal translocations; however, no sex chromosome tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7906142528f4d9eebceac2399ad8a46b
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/21132
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/21132
Autor:
Emel, Erdoğan-Bakar, Mine, Cinbiş, Hamit, Ozyürek, Nurcihan, Kiriş, Sakir, Altunbaşak, Banu, Anlar
Publikováno v:
The Turkish journal of pediatrics. 51(6)
Attention, learning, and perceptual problems have been reported at various degrees and rates in neurofibromatosis type 1 (NF1). We aimed to define the cognitive profiles frequently associated with NF1. Children and adolescents with NF1 (n=58) were te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::30f53a008aa8ecf956e0962b9b1743c0
https://pubmed.ncbi.nlm.nih.gov/20196390
https://pubmed.ncbi.nlm.nih.gov/20196390
Autor:
Münevver Atmaca, Bernard S. Chang, Osman Özdel, Füsun Düzcan, Seonhee Kim, Mine Cinbiş, Abha Aggarwal, Kira Apse, Sevil Zencir, Huseyin Bagci, Christopher A. Walsh
Publikováno v:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (1)
Reelin is an extracellular matrix-associated protein important in the regulation of neuronal migration during cerebral cortical development. Point mutations in the RELN gene have been shown to cause an autosomal recessive human brain malformation ter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d94be8c2432aa61f30526141dd1de85c
https://pubmed.ncbi.nlm.nih.gov/16958033
https://pubmed.ncbi.nlm.nih.gov/16958033
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumors. The NF1 gene product, neurofibromin, has a GTP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df28cb53d70d7cbad1e86a281661d415
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/4653
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/4653
Publikováno v:
Journal of child neurology. 19(5)
Segmental neurofibromatosis is considered to be the result of postzygotic NF1 gene mutations. We present a family in which the proband has generalized neurofibromatosis 1, whereas members of previous generations manifest segmental skin lesions. All,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cfb4a8d6427cab2fe50f8cbe21f338f
https://pubmed.ncbi.nlm.nih.gov/15224714
https://pubmed.ncbi.nlm.nih.gov/15224714
Publikováno v:
The Turkish journal of pediatrics. 45(3)
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by multiple neurofibromas, café-au-lait spots, and Lisch nodules of iris. The NF1 gene is located on chromosome 17q11.2 and encodes an 11-13 kb mRNA containing 60 e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c98f3530586a683bd2b6af6d897e57a7
https://pubmed.ncbi.nlm.nih.gov/14696795
https://pubmed.ncbi.nlm.nih.gov/14696795