Treatment of Selected Distal Radius Fractures with Nonbridging External Fixation

Autor: M. A. Hajianpour, Michael Feanny, Mario Berkowitz, Babak Sheikh, Loren L. Latta

Publikováno v: Journal of Long-Term Effects of Medical Implants. 30:199-204

A nonbridging external fixation (NBX) system with 1.6-mm diameter pins provided excellent stability for distal radius fractures in cadavers. For the present study, all patients with distal radius fractures were seen by the surgeon authors. Fractures

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b54eb6cc745668b4a9f80e7eb424636
https://doi.org/10.1615/jlongtermeffmedimplants.2020036110

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Autor: Katharina Steindl, Alain Verloes, Cornelia Kraus, Rachel Fisher, Katrin Õunap, Amber Begtrup, Steffen Syrbe, Theresa Brunet, Antonio Vitobello, Laurence Faivre, Reza Asadollahi, Jessica Becker, Maja Hempel, Dave A Dyment, Christiane Zweier, John H McDermott, Bernt Popp, Elaine Suk-Ying Goh, Lynette G. Sadleir, Anaïs Begemann, Siddharth Banka, Gwenaël Le Guyader, Elisabeth Schuler, Anne-Sophie Denommé-Pichon, Kathleen Brown, Gaetan Lesca, Frédéric Tran Mau-Them, Lucia Ribeiro Machado Haertel, Maryline Carneiro, Amelie Theresa Van der Ven, Markus Zweier, Hartmut Engels, Heinrich Sticht, Theresia Herget, Jessika Johannsen, Bader Alhaddad, Nadine N. Hauer, Robert C. Day, Tiia Reimand, M. J. Hajianpour, Manuel Schiff, Kirsty McWalter, Margarita Saenz, Tatjana Bierhals, Pierre Meyer, Ange-Line Bruel, Martina Russo, Korbinian M. Riedhammer, Kirsten Cremer, Anita Rauch, Marjolaine Willems

Publikováno v: Begemann, A, Sticht, H, Begtrup, A, Vitobello, A, Faivre, L, Banka, S, Alhaddad, B, Asadollahi, R, Becker, J, Bierhals, T, Brown, KE, Bruel, AL, Brunet, T & Rauch, A 2020, ' New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01011-x
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, pp.543-554. ⟨10.1038/s41436-020-01011-x⟩
Genetics in Medicine, 23

International audience; Purpose: A few de novo missense variants in the cytoplasmic FMRP-interacting protein 2 (CYFIP2) gene have recently been described as a novel cause of severe intellectual disability, seizures, and hypotonia in 18 individuals, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29708452a474550beae4525de9ef236e
https://doi.org/10.1038/s41436-020-01011-x

Childhood cancers and systems medicine

Autor: Kathryn J Klopfenstein, Koymangalath Krishnan, M J Hajianpour, William L. Stone, Cathleen M Cook, Marcela I Popescu

Publikováno v: Frontiers in bioscience (Landmark edition). 22(7)

Despite major advances in treatment, pediatric cancers in the 5-16 age group remain the most common cause of disease death, and one out of eight children with cancer will not survive. Among children that do survive, some 60% suffer from late effects

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c44751a6a0c26149d2b534e387f22888
https://pubmed.ncbi.nlm.nih.gov/28199197

Mosaic trisomy 16 ascertained through amniocentesis: Evaluation of 11 new cases

Autor: M. J. Hajianpour, Lynne S. Rosenblum-Vos, Evelyn M. Karson, Dru E. Carlson, Nathan Fischel-Ghodsian, Dmitriy A. Shchepin, Rena E. Falk, Elizabeth Roeder, Carolyn Trunca, Sucheta Bhatt, Charles H. Hux, Rhona Schreck, Wei Tong Hsu, Elizabeth A. Leeth, Rong Mao, Elizabeth Berry-Kravis, Sandra K. Linn, Jin Chen C Wang, Martin G. Bialer, Ann Garber

Publikováno v: American Journal of Medical Genetics. 80:473-480

Trisomy 16, once thought to result uniformly in early pregnancy loss, has been detected in chorionic villus samples (CVS) from on-going pregnancies and was initially ascribed to a second, nonviable pregnancy. Prenatally detected trisomy 16 in CVS and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::89afafa0ed12fec410e72faf1f5282d3
https://doi.org/10.1002/(sici)1096-8628(19981228)80:5<473::aid-ajmg7>3.0.co

Leiomyoma of uterus in a patient with ring chromosome 12: Case presentation and literature review

Autor: Cinna Toy Wohlmuth, Rezvan Habibian, Atieh Hajianpour, M. J. Hajianpour

Publikováno v: American Journal of Medical Genetics. 63:335-339

We report on a 30-year-old woman with de novo ring chromosome 12 mosaicism, 46,XX,r(12)(p13.3q24.3)/46,XX. In addition to the clinical manifestations generally observed in {open_quotes}ring syndrome{close_quotes} cases such as growth retardation, sho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4cfa6e4bfec6bdbabcc7437dd3a44938
https://doi.org/10.1002/(sici)1096-8628(19960517)63:2<335::aid-ajmg2>3.0.co