Zobrazeno 1 - 10
of 293
pro vyhledávání: '"molecular karyotyping"'
Autor:
Verena Pichler, Antoine Sanou, R. Rebecca Love, Beniamino Caputo, Marco Pombi, Kobie Hyacinth Toe, Moussa W. Guelbeogo, N’Fale Sagnon, Heather M. Ferguson, Hilary Ranson, Alessandra della Torre, Nora J. Besansky
Publikováno v:
Parasites & Vectors, Vol 16, Iss 1, Pp 1-8 (2023)
Abstract Background Chromosomal inversion polymorphisms have been associated with adaptive behavioral, physiological, morphological and life history traits in the two main Afrotropical malaria vectors, Anopheles coluzzii and Anopheles gambiae. The un
Externí odkaz:
https://doaj.org/article/85d227a6b9574837bb14db15a74aec4e
Publikováno v:
Medicinski Podmladak, Vol 74, Iss 5, Pp 43-49 (2023)
Introduction: Global developmental delay (GDD) and congenital anomalies represent a heterogeneous group of medical conditions that may have a known genetic etiology. Molecular karyotyping is the gold standard for detecting copy number variations (CNV
Externí odkaz:
https://doaj.org/article/b2deca2c3f074f43aa7c9ac873cb45d1
Autor:
T. V. Kozhanova, S. S. Zhilina, T. I. Meshсheryakova, N. P. Prokopyeva, A. G. Prityko, N. N. Zavadenko
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 14, Iss 2, Pp 214-220 (2022)
The clinical case of a patient with congenital contractures of the lower and upper limbs, face, seizures, facial dysmorphias, motor disorders and psychomotor development delay is presented. The proband with Freeman–Sheldon syndrome had no mutations
Externí odkaz:
https://doaj.org/article/d61d98af154d4c0ca2e75248fdc73c27
Autor:
Naomi Baba, Anna Lengyel, Eva Pinti, Elzem Yapici, Isolde Schreyer, Thomas Liehr, György Fekete, Thomas Eggermann
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-7 (2022)
Abstract Background Silver-Russell syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly at birth, body asymmetry and typical facial features. Clinical and molecular heterogeneity i
Externí odkaz:
https://doaj.org/article/3564b961a52a48068673a7bad6dd98a4
Autor:
Raquel Montanez‑Gonzalez, Alexandra C. Vallera, Maria Calzetta, Verena Pichler, Rachel R. Love, Moussa W. Guelbeogo, Roch K. Dabire, Marco Pombi, Carlo Costantini, Frederic Simard, Alessandra della Torre, Nora J. Besansky
Publikováno v:
Parasites & Vectors, Vol 14, Iss 1, Pp 1-10 (2021)
Abstract Background Genotyping of polymorphic chromosomal inversions in malaria vectors such as An. coluzzii Coetzee & Wilkerson is important, both because they cause cryptic population structure that can mislead vector analysis and control and becau
Externí odkaz:
https://doaj.org/article/a82a70b9ecf64ffd9f579aa9bf414dc6
Publikováno v:
Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 79-86 (2021)
We report a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p, resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. Parents were non consanguineous Caucasians, with familial history of recurrent miscarr
Externí odkaz:
https://doaj.org/article/1b0e0be2ff1446059b9005710a76a33f
Autor:
Harsh Sheth, Sunil Trivedi, Thomas Liehr, Ketan Patel, Deepika Jain, Jayesh Sheth, Frenny Sheth
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-7 (2020)
Abstract Background A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rar
Externí odkaz:
https://doaj.org/article/360dfdbb3f294c8f979fdd448cd8890a
Autor:
Raquel Montanez-Gonzalez, Verena Pichler, Maria Calzetta, Rachel R. Love, Alexandra Vallera, Lydia Schaecher, Beniamino Caputo, Marco Pombi, Vincenzo Petrarca, Alessandra della Torre, Nora J. Besansky
Publikováno v:
Parasites & Vectors, Vol 13, Iss 1, Pp 1-9 (2020)
Abstract Background Chromosomal inversion polymorphisms play a role in adaptation to heterogeneous environments. Inversion polymorphisms are implicated in the very high ecological flexibility of the three main malaria vector species of the Afrotropic
Externí odkaz:
https://doaj.org/article/46e78d33bcee4553990d292c2531e948
Autor:
Georgeta Cardos, Nicolae Gica, Corina Gica, Anca Maria Panaitescu, Mariana Predescu, Gheorghe Peltecu, Florina Mihaela Nedelea
Publikováno v:
Diagnostics, Vol 12, Iss 11, p 2887 (2022)
Microdeletions and microduplications are involved in many of prenatal and postnatal cases of multiple congenital malformations (MCM), developmental delay/intellectual disability (DD/ID), and autism spectrum disorders (ASD). Molecular karyotyping anal
Externí odkaz:
https://doaj.org/article/c97ff4b65575495ca0da5ef708bc59a8
Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 11-20 (2019)
Tetrasomy 9p was first described in 1973 and approximately 68 cases with a variable phenotype have been reported to date with 22 of them being detected prenatally. The objective of this study was to review prenatally-reported cases of tetrasomy 9p th
Externí odkaz:
https://doaj.org/article/f3352c1eabeb4b33b9a7414d81d085c9