Results 101 to 110 of about 37,774 (292)

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Spectral karyotyping (SKY) of mouse meiotic chromosomes

, 2001
The spectral karyotyping procedure of in situ hybridization with chromosome-specific probes assigns a unique colour code to each of the 21 mouse mitotic chromosomes.
Henry HQ Heng, Steve Bremer, Guo Liu, Mark Hughes, Christine J Ye, Peter Moens, Wei Lu   +6 more
core   +1 more source

Rapid aneuploidy detection or karyotyping? Ethical reflection [PDF]

, 2011
No consensus exists whether women at increased risk for trisomy 21, 13, and 18 should be offered stand-alone rapid aneuploidy detection (RAD) or karyotyping.
Timmermans, Danielle R. M., Daniëlle RM Timmermans, Dondorp, Wybo J., Timmermans, D.R.M., Dondorp, Wybo J, Wybo J Dondorp, Antina de Jong, Jong, A. de, van Lith, Jan M M, Jan MM van Lith, Guido MWR de Wert, Lith, J.M.M. van, Dondorp, W.J., Wert, G.M.W.R. de, Timmermans, Daniëlle R M, van Lith, Jan M. M., de Wert, Guido M. W. R., de Wert, Guido M W R, de Jong, Antina   +18 more
core   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Seeing Clowns with a Ring 20 Chromosome

Archives of Epilepsy
Ring chromosome 20 syndrome is a rare genetic disorder characterized by non-convulsive status epilepticus (NCSE) attacks, leading to prolonged confusional states of varying intensity.
Haşim Gezegen, İrem İlgezdi Kaya, Tuğba Kalaycı, Nermin Görkem Şirin, Birsen Karaman, Nerses Bebek, Betül Baykan   +6 more
doaj   +1 more source

Swyer Syndrome: Clinical Case of Gonadal Dysgenesis in a 15-year-old Girl

Педиатрическая фармакология
Swyer syndrome is a rare genetic disorder in which gonadal dysgenesis and karyotype 46, XY are observed. In the postnatal and prepubescent period, this disease has no clinical manifestations and is asymptomatic, which makes diagnosis difficult. The first
Irina V. Karachentsova, Elena V. Sibirskaya, Tatyana G. Dyadik, Mariia Yu. Chernysheva, Kristina A. Osmanova, Varvara M. Golubkova, Anna V. Arutunyan, Angelina A. Sysoeva   +7 more
doaj   +1 more source

High failure rate of postmortem karyotyping after termination for fetal abnormality

, 1996
Objective: To determine the failure rate of karyotyping from samples taken after termination of pregnancy for fetal ...
N FISK, S BLUNT, W SEPULVEDA, Sepulveda, Waldo, Blunt, Susan, G DAVIES, Kyle, Phillipa M., P COX, Davies, Graham, Cox, Phillip M., Fisk, Nicholas M., P KYLE   +11 more
core   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Molecular karyotyping – a new approach in clinical and laboratory genetics [PDF]

, 2014
Metoda molekularne kariotipizacije omogućava analizu genomskih mutacija s visokom rezolucijom na razini cijelog humanog genoma. Manje genomske mutacije (mikrodelecije, mikroduplikacije) koje nije moguće otkriti klasičnom kariotipizacijom prisutne su u ...
Lovrečić, Luca, Vrečar, Irena, Peterlin, Borut   +2 more
core  

Pediatric new‐onset seizure‐like events: Yield of diagnostic work‐up

Epileptic Disorders, EarlyView.
Abstract Objective To assess the diagnostic yield of ancillary investigations in children presenting with new‐onset seizure‐like events (SLEs) at a tertiary first seizure clinic (FSC). Methods We conducted a retrospective cohort study including 1213 children evaluated for new‐onset SLEs at a tertiary FSC.
Geertruida Slinger, Lotte Noorlag, Willem M. Otte, Maeike Zijlmans, Rosalie L. Neijzen, Sandra M. A. van der Salm, Floor E. Jansen, Kees P. J. Braun, Eric van Diessen   +8 more
wiley   +1 more source