Williams-Beuren syndrome in diverse populations.

Autor: Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Porras AR; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia., de Souza DH; Department of Genetics, Institute of Biosciences, Sao Paulo State University - UNESP, São Paulo, Brazil., Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Gill AD; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Boyle AP; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia., Hu T; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Mok GTK; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hongkong, China., Tekendo-Ngongang C; Division of Human Genetics, University of Cape Town, Cape Town, South Africa., Fieggen K; Division of Human Genetics, University of Cape Town, Cape Town, South Africa., Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina., Tanpaiboon P; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia., Honey E; Department of Genetics, University of Pretoria, Pretoria, South Africa., Luk HM; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, Hongkong, China., Lo IFM; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, Hongkong, China., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Muthukumarasamy P; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Belhassan K; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco., Ouldim K; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco., El Bouchikhi I; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah, Fez, Morocco., Bouguenouch L; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India., Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Mishra R; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Kisling MS; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia., Ferreira CR; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia., de Herreros MB; National Secretariat for the Rights of People with Disabilities (SENADIS), Fernando de la Mora, Paraguay., Lee NC; Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Lai A; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Tan ES; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Ying Lim J; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Wen-Min CB; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Lotz-Esquivel S; Research Department, Hospital San Juan de Dios (CCSS), San José, Costa Rica., Badilla-Porras R; Medical Genetics and Metabolism Department, Hospital Nacional de Niños (CCSS), San José, Costa Rica., Hussen DF; Department of Human Cytogenetics, The National Research Centre, Cairo, Egypt., El Ruby MO; Clinical Genetics Department, National Research Centre, Cairo, Egypt., Ashaat EA; Clinical Genetics Department, National Research Centre, Cairo, Egypt., Patil SJ; Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India., Dowsett L; Kapi'olani Medical Center for Women and Children, Honolulu, Hawaii., Eaton A; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta., Shotelersuk V; Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Badoe Ë; School of Medicine and Dentistry, College of Health Sciences, University of Ghana, Accra, Ghana., Wonkam A; Division of Human Genetics, University of Cape Town, Cape Town, South Africa., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hongkong, China., Trubnykova M; Instituto Nacional de Salud del Niño, Lima, Peru., La Serna J; Instituto Nacional de Salud del Niño, Lima, Peru., Gallardo Jugo BE; Instituto Nacional de Salud del Niño, Lima, Peru., Chávez Pastor M; Instituto Nacional de Salud del Niño, Lima, Peru., Abarca Barriga HH; Instituto Nacional de Salud del Niño, Lima, Peru., Megarbane A; Institut Jérôme Lejeune, Paris, France., Kozel BA; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri., van Haelst MM; Department of Genetics, University Medical Centre, Utrecht, Utrecht, The Netherlands., Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina., Summar M; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia., Adeyemo AA; Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Morris CA; Department of Pediatrics (Genetics Division), University of Nevada School of Medicine, Las Vegas, Nevada., Moretti-Ferreira D; Department of Genetics, Institute of Biosciences, Sao Paulo State University - UNESP, São Paulo, Brazil., Linguraru MG; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2018 May; Vol. 176 (5), pp. 1128-1136.

Longitudinal Cognitive Decline in Patients With Mild Cognitive Impairment or Dementia Due to Alzheimer's Disease.

Autor: Lim, Yen Ying, Kong, J., Maruff, P., Jaeger, J., Huang, E., Ratti, E.

Publikováno v: Journal of Prevention of Alzheimer's Disease; Jan2022, Vol. 9 Issue 1, p178-183, 6p

Williams–Beuren syndrome in diverse populations

Autor: Antonio R. Porras, Meow-Keong Thong, Katta M. Girisha, Miguel Chávez Pastor, Angélica Moresco, Premala Muthukumarasamy, María Gabriela Obregon, Ee Shien Tan, Gary T. K. Mok, Maximilian Muenke, Engela Honey, Cedrik Tekendo-Ngongang, Alec P. Boyle, E.V. Badoe, Laila Bouguenouch, Colleen A. Morris, Rupesh Mishra, Angeline Lai, Bertha Elena Gallardo Jugo, Adebowale Adeyemo, Deise Helena de Souza, Saumya Shekhar Jamuar, María Beatriz de Herreros, Karim Ouldim, Beth A. Kozel, Ashleigh D. Gill, Danilo Moretti-Ferreira, Mieke M. van Haelst, Ivan F M Lo, Vajira H. W. Dissanayake, Pranoot Tanpaiboon, Carlos Ferreira, Nirmala D. Sirisena, Leah Dowsett, Marshall L. Summar, Tommy Hu, Hugo Hernán Abarca Barriga, Dalia Farouk Hussen, Monisha S. Kisling, Milana Trubnykova, Ni-Chung Lee, Victoria Huckstadt, Marius George Linguraru, A. Micheil Innes, Eloise J. Prijoles, Vorasuk Shotelersuk, Khadija Belhassan, Brian H.Y. Chung, Jiin Ying Lim, Paul Kruszka, Anju Shukla, Ramses Badilla-Porras, Roger E. Stevenson, Siddaramappa J. Patil, Yonit A. Addissie, C. Sampath Paththinige, Ambroise Wonkam, Ihssane El Bouchikhi, Engy A. Ashaat, Mona O. El Ruby, Stephanie Lotz-Esquivel, André Mégarbané, Jorge La Serna, Cham Breana Wen-Min, HM Luk, Karen Fieggen, Alison Eaton, Neerja Gupta, Kelly L. Jones

Publikováno v: American Journal of Medical Genetics Part A, 176(5), 1128-1136. Wiley-Liss Inc.
Kruszka, P, Porras, A R, de Souza, D H, Moresco, A, Huckstadt, V, Gill, A D, Boyle, A P, Hu, T, Addissie, Y A, Mok, G T K, Tekendo-Ngongang, C, Fieggen, K, Prijoles, E J, Tanpaiboon, P, Honey, E, Luk, H-M, Lo, I F M, Thong, M-K, Muthukumarasamy, P, Jones, K L, Belhassan, K, Ouldim, K, El Bouchikhi, I, Bouguenouch, L, Shukla, A, Girisha, K M, Sirisena, N D, Dissanayake, V H W, Paththinige, C S, Mishra, R, Kisling, M S, Ferreira, C R, de Herreros, M B, Lee, N-C, Jamuar, S S, Lai, A, Tan, E S, Ying Lim, J, Wen-Min, C B, Gupta, N, Lotz-Esquivel, S, Badilla-Porras, R, Hussen, D F, El Ruby, M O, Ashaat, E A, Patil, S J, Dowsett, L, Eaton, A, Innes, A M, Shotelersuk, V, Badoe, Ë, Wonkam, A, Obregon, M G, Chung, B H Y, Trubnykova, M, La Serna, J, Gallardo Jugo, B E, Chávez Pastor, M, Abarca Barriga, H H, Megarbane, A, Kozel, B A, van Haelst, M M, Stevenson, R E, Summar, M, Adeyemo, A A, Morris, C A, Moretti-Ferreira, D, Linguraru, M G & Muenke, M 2018, ' Williams-Beuren syndrome in diverse populations ', American Journal of Medical Genetics Part A, vol. 176, no. 5, pp. 1128-1136 . https://doi.org/10.1002/ajmg.a.38672

Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e32d4933dafcf00d120fc6f768507dad
https://doi.org/10.1002/ajmg.a.38672