Spread of X-chromosome inactivation into autosomal regions in patients with unbalanced X-autosome translocations and its phenotypic effects.

Autor: Favilla BP; Department of Morphology and Genetics, UNIFESP-Universidade Federal de São Paulo, São Paulo, Brazil., Meloni VA; Department of Morphology and Genetics, UNIFESP-Universidade Federal de São Paulo, São Paulo, Brazil., Perez AB; Department of Morphology and Genetics, UNIFESP-Universidade Federal de São Paulo, São Paulo, Brazil., Moretti-Ferreira D; Department of Chemical and Biological Sciences, Biosciences Institute, UNESP-Universidade Estadual Paulista, Botucatu, São Paulo, Brazil., de Souza DH; Department of Chemical and Biological Sciences, Biosciences Institute, UNESP-Universidade Estadual Paulista, Botucatu, São Paulo, Brazil., Bellucco FT; Department of Morphology and Genetics, UNIFESP-Universidade Federal de São Paulo, São Paulo, Brazil., Melaragno MI; Department of Morphology and Genetics, UNIFESP-Universidade Federal de São Paulo, São Paulo, Brazil.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2295-2305. Date of Electronic Publication: 2021 Apr 29.

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.

Isolation of arginase inhibitors from the bioactivity-guided fractionation of Byrsonima coccolobifolia leaves and stems.

Autor: de Sousa LR; Departamento de Química, Universidade Federal de São Carlos , Rod. Washington Luís, Km 235, 13565-905 São Carlos, SP, Brazil., Ramalho SD, Burger MC, Nebo L, Fernandes JB, da Silva MF, Iemma MR, Corrêa CJ, de Souza DH, Lima MI, Vieira PC

Publikováno v: Journal of natural products [J Nat Prod] 2014 Feb 28; Vol. 77 (2), pp. 392-6. Date of Electronic Publication: 2014 Feb 13.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

Autor: Vieira GH; JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA., Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, DuPont BR, Walz K, Moretti-Ferreira D, Srivastava AK

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Feb; Vol. 20 (2), pp. 148-54. Date of Electronic Publication: 2011 Sep 07.

A molecular mechanism for Lys49-phospholipase A2 activity based on ligand-induced conformational change.

Autor: Ambrosio AL; Centro de Biotecnologia Molecular Estrutural, Instituto de Física de São Carlos, USP, São Carlos-SP CEP 13560-970, Brazil., Nonato MC, de Araújo HS, Arni R, Ward RJ, Ownby CL, de Souza DH, Garratt RC

Publikováno v: The Journal of biological chemistry [J Biol Chem] 2005 Feb 25; Vol. 280 (8), pp. 7326-35. Date of Electronic Publication: 2004 Dec 13.