Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Digeorge Sendromu"'
Publikováno v:
Cukurova Medical Journal, Vol 41, Iss 2, Pp 379-385 (2016)
22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the 22q11.2 deletion from a parent
Externí odkaz:
https://doaj.org/article/1af4ffa265664844bd4565c0f913f58f
Autor:
Süleyman Cemil Oğlak, Mustafa Behram, Sema Süzen Çaypınar, Salim Sezer, Aytul Corbacioglu Esmer
Publikováno v:
Turkish Journal of Obstetrics and Gynecology
Objective: To investigate the frequency and types of chromosomal abnormalities in fetuses with the aberrant right subclavian artery (ARSA) and to evaluate its association with other ultrasonographic findings. Materials and Methods: In all, 11,666 fet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::325161b40ec23e42e1e45391f27e7c8c
https://doi.org/10.4274/tjod.galenos.2021.69749
https://doi.org/10.4274/tjod.galenos.2021.69749
Autor:
Çivilibal Tang, Nazlıcan, Çelik Alaçam, Nida, Bornaun, Helen, Erdem, Abdullah, Yılmaz Güleç, Elif
Left subclavian artery originating from the left pulmonary artery is a rare aortic arch anomaly. Herein, we, for the first time in Turkey, present a case of left subclavian artery originating from the left pulmonary artery via ductus arteriosus in Di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______9477::e122298180024d61a1efc86bbd5efac3
https://hdl.handle.net/20.500.12511/6025
https://hdl.handle.net/20.500.12511/6025
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 41, Iss 2, Pp 379-385 (2016)
Volume: 41, Issue: 2 379-385
Cukurova Medical Journal
Volume: 41, Issue: 2 379-385
Cukurova Medical Journal
22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the 22q11.2 deletion from a parent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6036b90d750adb5c4244cb6cbf264c6e
http://www.scopemed.org/fulltextpdf.php?mno=202658
http://www.scopemed.org/fulltextpdf.php?mno=202658
Autor:
Göktürk, Bahar, Reisli, İsmail
DiGeorge sendromu (DGS), nöral krest gelişim ve migrasyon defektine bağlı oluşan en sık görülen mikrodelesyon sendromudur. Tipik delesyon bölgesinde 35'ten fazla gen bulunması nedeniyle fenotip oldukça değişkendir. Ancak bu hasta grubund
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______9479::58cd8cb37281dce84a56daeeb8232c21
https://hdl.handle.net/20.500.12452/2290
https://hdl.handle.net/20.500.12452/2290
Autor:
HAKYEMEZ TOPTAN, Handan, AKBAŞ, Ayşen, GÖKMEN YILDIRIM, Tülin, YAVUZ, Taner, OVALI, Fahri, KARATEKİN, Güner
Publikováno v:
Volume: 46, Issue: 4 118-120
Zeynep Kamil Tıp Bülteni
Zeynep Kamil Tıp Bülteni
Introduction: Classical triad of DiGeorge Syndrome (DGS), where more than %90 of patients are detected by 22q11 deletion, is formed by congenital heart diseases, large vascular anomalies, palatal incapacity, and hypocalcemia. Hypoplasia of timus, spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=tubitakulakb::d9557c5daa18ef36fc27d6a982bd6629
https://dergipark.org.tr/tr/pub/zktipb/issue/22084/237070
https://dergipark.org.tr/tr/pub/zktipb/issue/22084/237070
Publikováno v:
Cukurova Medical Journal. 41:379
İnsanlardaki en sık mikrodelesyon sendromu olan 22q11.2 delesyon sendromu sadece bir kromozomun etkilenmesiyle oluşan hemizigot bir delesyon sonucu oluşur. Hastaların çoğunda de novo mutasyon söz konusudur ancak %520'sinde ebeveynlerde birisi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a807fa910b68c6070f3de6cedbfb5c41
https://doi.org/10.17826/cutf.202658
https://doi.org/10.17826/cutf.202658
Autor:
Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk İmmünoloji Bilim Dalı., Kılıç, Sara Şebnem
Antikor yapım defekti en sık görülen immün yetmezlik grubudur. Bu hastalık grubu tüm immünglobulinlerin düşük olduğu agammaglobulinemi gibi ağır hastalık tablolarını içerebildiği gibi daha hafif klinik seyirli normal immunglobulin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______9458::afc6425758fb94125bb17b6e034648f9
http://hdl.handle.net/11452/11650
http://hdl.handle.net/11452/11650
Autor:
Fuat Buğrul, Fahrettin Duymus
Publikováno v:
Volume: 19, Issue: 3 163-166
Çocuk Dergisi
Çocuk Dergisi
Velo-kardiyo-fasiyal/DiGeorge sendromu olarak da bilinen 22q11.2 delesyon sendromu 4000 canlı doğumda bir görülen en yaygın mikrodelesyon sendromudur. 22q11.2 otozomal dominant kalıtılan bir hastalıktır, ancak hastaların yaklaşık %90’ı
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12653cd84f850682f9ea2ff7503337c4
https://dergipark.org.tr/tr/pub/jchild/issue/56893/799112
https://dergipark.org.tr/tr/pub/jchild/issue/56893/799112