c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome

Autor: Porto MB, Castro GDME, Pereira SSS, Uchoa EMGS, Zatarin R, Minasi LB, da Cruz AD

Publikováno v: International Medical Case Reports Journal, Vol Volume 17, Pp 63-70 (2024)

Milena Barbosa Porto,1 Geovanna da Mata e Castro,1 Samara Socorro Silva Pereira,2 Elza Maria Gonçalves Santos Uchoa,2 Raffael Zatarin,3 Lysa Bernardes Minasi,1 Aparecido D da Cruz1– 3 1Graduate Program in Genetics, School of Medical and Life Scien

Externí odkaz: https://doaj.org/article/2915fa69a4d84a729f58875ced0fb0ec

Cruz ad in south carolina mocks rubio as just a pretty face.

Autor: Kapur, Sahil (AUTHOR)

Publikováno v: Bloomberg.com. 2/11/2016, pN.PAG-N.PAG. 1p.

CT-Based Screening for Pulmonary Metastases in Head and Neck Squamous Cell Cancers: Diagnostic Accuracy and Cost Comparison with PET-CECT.

Autor: Mahajan A; The Clatterbridge Cancer Centre NHS Foundation Trust, Pembroke Place, Liverpool, L7 8YA UK., Shukla S; Department of Radiodiagnosis, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Nandi D; Department of Radiodiagnosis, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Sable N; Department of Radiodiagnosis, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Ankathi SK; Department of Radiodiagnosis, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Vaish R; Department of Head and Neck Surgery, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Patil V; Department of Radiodiagnosis, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Sahu A; Department of Radiodiagnosis, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Bhattacharya K; Department of Radiodiagnosis, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Agarwal U; Department of Radiodiagnosis, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Pai P; Department of Head and Neck Surgery, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Laskar SG; Department of Pathology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Chaukar D; Department of Head and Neck Surgery, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Prabhash K; Department of Medical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Cruz AD'; Department of Head and Neck Surgery, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Patil A; Department of Pathology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Pantvaidya G; Department of Head and Neck Surgery, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Noronha V; Department of Medical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Patil V; Department of Medical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Menon N; Department of Medical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Thiagarajan S; Department of Head and Neck Surgery, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India., Chaturvedi P; Department of Head and Neck Surgery, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, 400 012 Maharashtra India.

Publikováno v: Indian journal of surgical oncology [Indian J Surg Oncol] 2023 Dec; Vol. 14 (4), pp. 881-889. Date of Electronic Publication: 2023 Jul 10.

Effects of Bipolar Radiofrequency on Collagen Synthesis from Patients with Brachial Ptosis.

Autor: Cala Uribe LC; Private Practice, Bogotá, Colombia., Perez Pachon ME; Total Definer, Rochester, Minn., Zannin Ferrero A; The Cell Therapy and Metabolism Research Group at Universidad De La Sabana School of Medicine, Bogotá, Colombia., Neri Morales C; The Cell Therapy and Metabolism Research Group at Universidad De La Sabana School of Medicine, Bogotá, Colombia., Silva Gutierrez J; The Cell Therapy and Metabolism Research Group at Universidad De La Sabana School of Medicine, Bogotá, Colombia., Manrique Cruz AD; The Cell Therapy and Metabolism Research Group at Universidad De La Sabana School of Medicine, Bogotá, Colombia., Maza MF; The Cell Therapy and Metabolism Research Group at Universidad De La Sabana School of Medicine, Bogotá, Colombia., Acero Mondragon EJ; PROSEIM Group, Department of Morphophysiology at Universidad de La Sabana, Bogotá, Colombia., Celis Regalado LG; The Cell Therapy and Metabolism Research Group at Universidad De La Sabana School of Medicine, Bogotá, Colombia.

Publikováno v: Plastic and reconstructive surgery. Global open [Plast Reconstr Surg Glob Open] 2023 Apr 13; Vol. 11 (4), pp. e4924. Date of Electronic Publication: 2023 Apr 13 (Print Publication: 2023).

The influence of six polymorphisms of uncoupling protein 3 (UCP3) gene and childhood obesity: a case-control study.

Autor: Fortes JS; Replicon Research Group, Genetics Graduate Program, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Rua 235, N. 40, Setor Leste Universitário, Goiânia, GO, 74605-050, Brazil.; Genetics and Molecular Biology Graduate Program, Federal University of Goiás, Campus Samambaia, Goiânia, GO, 74690-900, Brazil., Pinto RM; Pediatrics Department, Federal University of Goiás, Câmpus Colemar Natal E Silva (Câmpus I), Rua 235, Setor Leste Universitário, Goiânia, GO, Brazil., de Souza RF; Replicon Research Group, Genetics Graduate Program, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Rua 235, N. 40, Setor Leste Universitário, Goiânia, GO, 74605-050, Brazil., Godoy FR; Replicon Research Group, Genetics Graduate Program, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Rua 235, N. 40, Setor Leste Universitário, Goiânia, GO, 74605-050, Brazil.; Genetics and Molecular Biology Graduate Program, Federal University of Goiás, Campus Samambaia, Goiânia, GO, 74690-900, Brazil., da Cruz RS; Replicon Research Group, Genetics Graduate Program, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Rua 235, N. 40, Setor Leste Universitário, Goiânia, GO, 74605-050, Brazil.; Physiotherapy Undergraduate Course, Centro Universitário de Goiânia - UNICEUG, Goiânia, GO, Brazil., de M E Silva D; Genetics and Molecular Biology Graduate Program, Federal University of Goiás, Campus Samambaia, Goiânia, GO, 74690-900, Brazil., Filho HPL; Goiás State University, Ceres Campus, Ceres, GO, Brazil., da Cruz AD; Replicon Research Group, Genetics Graduate Program, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Rua 235, N. 40, Setor Leste Universitário, Goiânia, GO, 74605-050, Brazil.; Genetics and Molecular Biology Graduate Program, Federal University of Goiás, Campus Samambaia, Goiânia, GO, 74690-900, Brazil.; Human Cytogenetics and Molecular Genetics Laboratory/CRER, State Health Secretary of Goiás, Goiânia, GO, Brazil., Minasi LB; Replicon Research Group, Genetics Graduate Program, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Rua 235, N. 40, Setor Leste Universitário, Goiânia, GO, 74605-050, Brazil. minasi@pucgoias.edu.br.

Publikováno v: BMC pediatrics [BMC Pediatr] 2023 Feb 21; Vol. 23 (1), pp. 87. Date of Electronic Publication: 2023 Feb 21.