Zobrazeno 1 - 10
of 691
pro vyhledávání: '"18p‐"'
Autor:
Morten Krogh Herlin, Jens Magnus Bernth Jensen, Lotte Andreasen, Mikkel Steen Petersen, Jonas Lønskov, Mette Bendixen Thorup, Niels Birkebæk, Trine H. Mogensen, Troels Herlin, Bent Deleuran
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Abnormal gene dosage from copy number variants has been associated with susceptibility to autoimmune disease. This includes 18p deletion syndrome, a chromosomal disorder with an estimated prevalence of 1 in 50,000 characterized by intellectual disabi
Externí odkaz:
https://doaj.org/article/47e33af69d9e4adf9c8760bf1dcaca36
Autor:
Maria Papamichail, Anna Eleftheriades, Emmanouil Manolakos, Adamantia Papamichail, Panagiotis Christopoulos, Gwendolin Manegold-Brauer, Makarios Eleftheriades
Publikováno v:
BMC Women's Health, Vol 24, Iss 1, Pp 1-10 (2024)
Abstract 18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap w
Externí odkaz:
https://doaj.org/article/f0113c25ecbc4ea3809dd10288669472
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-5 (2022)
Abstract Background Tetrasomy 18p syndrome is a rare chromosomal disorder that is caused by the presence of isochromosome 18p. Most tetrasomy 18p cases are de novo cases and maternal origin of trisomy 18p is a rare condition. At present, only four ca
Externí odkaz:
https://doaj.org/article/640e9bfef4f7421fab33662731689d9a
Akademický článek
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Autor:
Ayca Kocaaga, Sevgi Yimenicioglu
Publikováno v:
Global Medical Genetics, Vol 09, Iss 02, Pp 179-181 (2022)
The frequency of 18p deletion syndrome is estimated to be ∼1/50,000 live births and is more commonly associated with certain clinical features including short stature, intellectual disability, and facial dysmorphism. Physical examination of our pat
Externí odkaz:
https://doaj.org/article/f957e51911a942809aabbf0d1f7ae013
Autor:
Eleonora Marchina, Michela Forti, Mariella Tonelli, Stefania Maccarini, Francesca Malvestiti, Chiara Piantoni, Elena Filippini, Elisa Fazzi, Giuseppe Borsani
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-8 (2021)
Abstract Background Small supernumerary marker chromosomes (sSMC) are a heterogeneous group of structurally abnormal chromosomes, with an incidence of 0,044% in newborns that increases up to almost 7 times in developmentally retarded patients. sSMC f
Externí odkaz:
https://doaj.org/article/60680abd01ed4a68bb010ea73d146dc3
Publikováno v:
Balkan Journal of Medical Genetics, Vol 23, Iss 1, Pp 99-102 (2020)
A 28-year-old woman underwent amniocentesis at 18 weeks’ gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation
Externí odkaz:
https://doaj.org/article/54c14ac70cd54b60a98ad2a73746eadb
Akademický článek
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Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
This study aimed to identify the genetic cause of one Chinese family with solitary median maxillary central incisor (SMMCI) and explore the relationship between genotype and its phenotype. One Chinese family with clinical diagnosis of SMMCI was colle
Externí odkaz:
https://doaj.org/article/513b032a2ae74e86b938d8912aa8e4ff
Publikováno v:
Children, Vol 9, Iss 7, p 987 (2022)
18p deletion (18p-) syndrome is a rare chromosome abnormality that has a wide range of phenotypes, with short stature, intellectual disability, and facial dysmorphism being the main clinical features. Here, we report the first case in Korea of a 16-y
Externí odkaz:
https://doaj.org/article/95fdec213b744ada9df05dd9b41d4c0a