Rubinstein-Taybi syndrome in diverse populations.

Autor: Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Owosela B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Fleischer N; FDNA Inc., Boston, Massachusetts, USA., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Malonga B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Badoe E; Department of Child Health, School of Medicine and Dentistry, College of Health Sciences, Accra, Ghana., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Hussen DF; Cytogenetic Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Luk HM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China., Lo IFM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China., Hon-Yin Chung B; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Moretti-Ferreira D; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil., Batista LC; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil., Lotz-Esquivel S; Rare and Orphan Disease Multidisciplinary Clinic, Hospital San Juan de Dios (CCSS), San José, Costa Rica., Saborio-Rocafort M; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica., Badilla-Porras R; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica., Penon Portmann M; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica.; Division of Medical Genetics, Department of Pediatrics & Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA., Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Abdul-Rahman OA; Munroe-Meyer institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA., Uwineza A; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda., Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Ifeorah IK; Nigerian Air Force Hospital, Nigerian Air Force, Abuja, Nigeria., Llamos Paneque A; Medical Genetics Service, Specialty Hospital of the Armed Forces No. 1, International University of Ecuador, Sciences of Life Faculty, School of Dentistry, Quito, Ecuador., Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dowsett L; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA., Lee S; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Kitchin CS; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Diaz-Kuan A; Instituto de Medicina Genética, Santiago de Surco, Lima, Peru., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Mutesa L; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., El Ruby MO; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Ekure EN; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria., Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Dec; Vol. 182 (12), pp. 2939-2950. Date of Electronic Publication: 2020 Sep 27.

Association Analysis of METTL 23 Gene Polymorphisms with Reproductive Traits in Kele Pigs.

Autor: Sun, Jie, Wang, Chunyuan, Wu, Yan, Xiang, Jin, Zhang, Yiyu

Publikováno v: Genes; Aug2024, Vol. 15 Issue 8, p1061, 12p

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Autor: Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Gonzalez, Vanesa Lopez, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean-Louis, Bartsch, Oliver

Publikováno v: Journal of Medical Genetics; Jun2024, Vol. 61 Issue 6, p503-519, 36p

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome.

Autor: Wang, Qian¹ (AUTHOR), Wang, Cong¹ (AUTHOR), Wei, Wen Bin¹ (AUTHOR), Rong, Wei Ning² (AUTHOR) rongweining426@126.com, Shi, Xiang Yu¹ (AUTHOR) sxy_cn@aliyun.com

Publikováno v: BMC Medical Genomics. 8/19/2022, Vol. 15 Issue 1, p1-8. 8p.

Meta‐analysis reveals differential gene expression in tetralogy of Fallot versus controls.

Autor: Voskamp, Sarah Mae, Hammonds, Maya Alexis, Knapp, Thomas M., Pekmezian, Ashley L., Hadley, Dexter, Nelson, Jennifer S.

Publikováno v: Birth Defects Research; Jan2024, Vol. 116 Issue 1, p1-14, 14p