Search results for "Potocki"
showing 5 items of 5 documents
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
2012
Contains fulltext : 110038.pdf (Publisher’s version ) (Closed access) Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for multiple exostoses and parietal foramina in PSS, the identity of the gene(s) associated with the ID and CFA phenotypes has remained elusive. Through characterization of independent subjects with balanced translocations and supportive comparative deletion mapping of PSS subjects, we have uncovered evidence that t…
Sapieżyńska ochrona dóbr Potockich w starostwie owruckim w latach 80. i 90. XVII wieku Przyczynek do badań nad współpracą rodzin magnackich w czasach…
2019
The Sapiehas and the Potockis were amongst the most influential families of the Polish‑Lithuanian Commonwealth. The latter family owned numerous estates in Ukraine, which were directly under threat from marching Lithuanian soldiers. Kazimierz Jan Sapieha, Grand Hetman of Lithuania was in charge of the said estates. Due to cooperation of the two magnate families, he attempted to shield the Potockis’ estates and possessions from Lithuanian troops marching to or returning from the war with Turkey. To that aim he utilised legal proclamations called Universals. The Potockis returned the favour by entering into political collaboration. Hetman Kazimierz Jan Sapieha, having been absent from the Sie…
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
2020
Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. We report a systematic review of the literature and included two novel cases. Because deletions are highly variable in size, we defined three groups of patients considering the PSS-genes involved. We found 23 full PSS cases (ALX4, EXT2, and PHF21A), 14 cases with EXT2-ALX4, and three with PHF21A only…
L'esthétique de la laideur dans le Manuscrit trouvé à Saragosse
2001
Il contributo si propone di mettere in evidenza l'estetica del brutto nel noto romanzo di Jan Potocki facendo uso delle categorie estetiche estrapolate dalla riflessione di Karl Rosenkranz.
Sapieżyńska ochrona dóbr Potockich w starostwie owruckim w latach 80. i 90. XVII wieku: przyczynek do badań nad współpracą rodzin magnackich w czasac…
2019
Sapiehowie i Potoccy byli jednymi z najbardziej wpływowych rodzin w dawnej Rzeczypospolitej. Druga z wymienionych familii posiadała liczne dobra na Ukrainie, które rujnowały częste przemarsze żołnierzy litewskich. Władzę nad nimi sprawował hetman wielki Kazimierz Jan Sapieha. Zasadniczym celem artykułu jest rozpatrzenie kwestii dotyczącej możliwej ochrony przez hetmana Sapiehę dóbr Potockich w zamian za ich głosy poparcia na sejmie i obronę w czasie ataków na litewskiego dowódcę wywołanych jego absencją pod Wiedniem.