22q11.2 Deletion Syndrome in Diverse Populations

Autor: Muthukumarasamy, P, Muenke, M, Linguraru, MG, Kruszka, P, Addissie, YA, McGinn, DE, Porras, AR, Biggs, E, Share, M, Crowley, TB, Kaplan, JD, Chung, BHY, Abdul-Rahman, OA, Uwineza, A, Mok, TKG, MAK, CCY, Mutesa, L, Moresco, A, Obregon, MG, Richieri-Costa, A, Zackai, EH, Summar, M, McDonald-McGinn, DM, Adeyemo, AA, Gil-da-Silva-Lopes, VL, Thong, MK, Siriseria, ND, Dissanayake, VHW, Paththinige, CS, Prabodha, LBL, Mishra, R, Shotelersuk, V, Ekure, EN, Sokunbi, OJ, Kalu, N, Ferreira, CR, Duncan, JM, Patil, SJ, Jones, KL

22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e5492b58df8ceb53bbcde9106af7633d
https://europepmc.org/articles/PMC5363275/

Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.

Autor: Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Troia A; Cardiovascular & Pulmonary Branch, National Heart, Lung, and Blood Institute, The National Institutes of Health, Bethesda, Maryland, USA., Wong ZC; Cardiovascular & Pulmonary Branch, National Heart, Lung, and Blood Institute, The National Institutes of Health, Bethesda, Maryland, USA., Everson JL; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, Wisconsin, USA., Kozel BA; Cardiovascular & Pulmonary Branch, National Heart, Lung, and Blood Institute, The National Institutes of Health, Bethesda, Maryland, USA., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, Wisconsin, USA., Malecki KMC; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, Wisconsin, USA., Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.

Publikováno v: Birth defects research [Birth Defects Res] 2021 Jan 01; Vol. 113 (1), pp. 63-76. Date of Electronic Publication: 2020 Oct 28.

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.

Autor: Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, MD, USA., Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, MD, USA. paul.kruszka@nih.gov., Troia A; National Heart, Lung, and Blood Institute, The National Institutes of Health, Bethesda, MD, USA., Wong ZC; National Heart, Lung, and Blood Institute, The National Institutes of Health, Bethesda, MD, USA., Everson JL; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI, USA., Kozel BA; National Heart, Lung, and Blood Institute, The National Institutes of Health, Bethesda, MD, USA., Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI, USA., Malecki KMC; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI, USA.; Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, MD, USA.

Publikováno v: Environmental health : a global access science source [Environ Health] 2020 Jun 08; Vol. 19 (1), pp. 65. Date of Electronic Publication: 2020 Jun 08.

Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery.

Autor: Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Buscetta A; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Acosta MT; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Undiagnosed Disease Network, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Banks N; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Toro C; Undiagnosed Disease Network, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Luby M; Stroke Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., Latour L; Stroke Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., Vezina G; The Children's Research Institute, Children's National Health System, Washington, DC., Page DC; Whitehead Institute, Cambridge, Massachusetts.; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts.; Howard Hughes Medical Institute, Whitehead Institute, Cambridge, Massachusetts., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Publikováno v: Birth defects research [Birth Defects Res] 2019 Nov 15; Vol. 111 (19), pp. 1584-1588. Date of Electronic Publication: 2019 Oct 18.

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.