A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome.

Autor: Kaymakçalan H; Departments of Pediatrics, Pediatric Genetics Unit Faculty of Medicine, Demiroğlu Bilim University; İstanbul-Turkey., Ercan-Şençiçek AG; Masonic Medical Research Institute; Utica, NY-USA., Cebeci AN; Private Practice; Erlangen-Germany., Dong W; Department of Genetics, Yale School of Medicine; New Haven, CT-USA., Yalım Yalçın AS; Departments of Pediatrics, Pediatric Cardiology, Faculty of Medicine, Demiroğlu Bilim University; İstanbul-Turkey.

Publikováno v: Anatolian journal of cardiology [Anatol J Cardiol] 2022 Feb; Vol. 26 (2), pp. 149-150.

A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.

Autor: Bukaeva, Anna¹ (AUTHOR) andorom@yandex.ru, Myasnikov, Roman¹ (AUTHOR) olgakulikova2014@mail.ru, Kulikova, Olga¹ (AUTHOR) meshkov@lipidclinic.ru, Meshkov, Alexey^1,2,3,4 (AUTHOR) psparber93@gmail.com, Kiseleva, Anna¹ (AUTHOR) anna.petukhova.96@gmail.com, Petukhova, Anna¹ (AUTHOR) evgenia.d.zotova@gmail.com, Zotova, Evgenia¹ (AUTHOR) alersh@mail.ru, Sparber, Peter³ (AUTHOR) genclinic@yandex.ru, Ershova, Alexandra¹ (AUTHOR) sotnikova.evgeniya@gmail.com, Sotnikova, Evgeniia¹ (AUTHOR) kudryavtseva6041995@yandex.ru, Kudryavtseva, Maria¹ (AUTHOR) azharikova89@gmail.com, Zharikova, Anastasia^1,5 (AUTHOR) skoretskiy@gnicpm.ru, Koretskiy, Sergey¹ (AUTHOR) ramensky@gmail.com, Mershina, Elena⁶ (AUTHOR) elena_mershina@mail.ru, Ramensky, Vasily^1,5,7 (AUTHOR) vyatkin@gmail.com, Zaicenoka, Marija⁸ (AUTHOR) marija.zaicenoka@gmail.com, Vyatkin, Yuri^1,7 (AUTHOR) alisa.fbb@gmail.com, Muraveva, Alisa¹ (AUTHOR) abisheva.alex@gmail.com, Abisheva, Alexandra¹ (AUTHOR) tnikityuk@gnicpm.ru, Nikityuk, Tatiana¹ (AUTHOR) divashuk@gmail.com

Publikováno v: International Journal of Molecular Sciences. Jul2024, Vol. 25 Issue 14, p7556. 13p.

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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.

Autor: Schaffer AE; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA. ashleigh.schaffer@case.edu.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA. ashleigh.schaffer@case.edu., Breuss MW; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Caglayan AO; Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT, USA.; Department of Medical Genetics, Istanbul Bilim University, Istanbul, Turkey., Al-Sanaa N; Department of Pediatrics, Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., Al-Abdulwahed HY; Department of Pediatrics, Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., Kaymakçalan H; Department of Pediatrics, Istanbul Bilim University, Istanbul, Turkey., Yılmaz C; Department of Pediatrics, Yıldırım Beyazıt University, Ankara, Turkey., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Rosti RO; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Copeland B; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Baek ST; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Musaev D; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Scott EC; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Ben-Omran T; Clinical and Metabolic Genetics Section, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Kariminejad A; Kariminejad-Najmabadi Pathology and Genetic Center, Tehran, Iran., Kayserili H; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey., Mojahedi F; Mashhad Medical Genetic Counseling Center, Mashhad, Iran., Kara M; University of Tripoli, Tripoli Children's Hospital, Tripoli, Libya., Cai N; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Silhavy JL; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Elsharif S; University of Tripoli, Tripoli Children's Hospital, Tripoli, Libya., Fenercioglu E; L.E.S. Mikrogen Genetic Diseases Diagnosis Center, Istanbul, Turkey., Barshop BA; Department of Pediatrics, Biochemical Genetics Program, University of California, San Diego, San Diego, CA, USA., Kara B; Department of Pediatric Neurology, Kocaeli University, Kocaeli, Turkey., Wang R; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Stanley V; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., James KN; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Nachnani R; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Kalur A; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., Megahed H; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Incecik F; Department of Pediatric Neurology, Cukurova University, Adana, Turkey., Danda S; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India., Alanay Y; Pediatric Genetics Unit, Department of Pediatrics, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Faqeih E; Section of Medical Genetics, Department of Pediatrics, King Fahad Medical City, Children's Hospital, Riyadh, Saudi Arabia., Melikishvili G; Department of Pediatrics, MediClubGeorgia, Tbilisi, Georgia., Mansour L; Pediatric Department, Neuropediatric Unit, Cairo University Children's Hospital, Cairo, Egypt., Miller I; Neurology Department, Nicklaus Children's Hospital, Miami, FL, USA., Sukhudyan B; Arabkir Joint Medical Center and Institute of Child and Adolescent Health, Yerevan, Armenia., Chelly J; Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France., Dobyns WB; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA, USA., Bilguvar K; Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT, USA., Jamra RA; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Gunel M; Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT, USA., Gleeson JG; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA. jogleeson@ucsd.edu.

Publikováno v: Nature genetics [Nat Genet] 2018 Aug; Vol. 50 (8), pp. 1093-1101. Date of Electronic Publication: 2018 Jul 16.