Osteogenesis imperfecta in Peruvian children: Phenotypic and therapeutic insights from a pediatric hospital.

Autor: Barba AAA; Carrera Profesional de Medicina Humana, Universidad Científica del Sur, Lima, Perú., Meza PVM; Carrera Profesional de Medicina Humana, Universidad Científica del Sur, Lima, Perú., Abarca-Barriga HH; Carrera Profesional de Medicina Humana, Universidad Científica del Sur, Lima, Perú.; Servicio de Genética & Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño - Breña, Lima, Perú.

Publikováno v: Intractable & rare diseases research [Intractable Rare Dis Res] 2024 Nov 30; Vol. 13 (4), pp. 236-244.

Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis.

Autor: Abarca-Barriga HH; Instituto de Investigaciones de Ciencias Biomédicas, Universidad Ricardo Palma, Lima 15039, Peru.; Servicio de Genética & Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño Breña, Lima 15083, Peru., Punil Luciano R; Servicio de Genética & Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño Breña, Lima 15083, Peru., Vásquez Sotomayor F; Instituto de Investigaciones de Ciencias Biomédicas, Universidad Ricardo Palma, Lima 15039, Peru.; Servicio de Genética & Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño Breña, Lima 15083, Peru.

Publikováno v: Genes [Genes (Basel)] 2023 Dec 14; Vol. 14 (12). Date of Electronic Publication: 2023 Dec 14.

Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature.

Autor: Abarca-Barriga HH; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.; Facultad de Medicina Humana, Universidad Ricardo Palma, Lima, Perú.; Facultad de Odontología, Universidad Científica del Sur, Lima, Perú., Trubnykova M; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú., Chavesta-Velásquez F; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú., Barletta-Carrillo C; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.; Laboratorio de Genética Humana, Universidad Nacional Mayor de San Marcos, Lima, Perú., Ordoñez-Linares M; Hospital Antonio Lorena, Cusco, Perú.; Escuela Profesional de Medicina Humana, Universidad Nacional de San Antonio Abad del Cusco, Cusco, Perú., Rondón-Abuhadba A; Escuela Profesional de Medicina Humana, Universidad Nacional de San Antonio Abad del Cusco, Cusco, Perú.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2020 Dec; Vol. 9 (4), pp. 270-278. Date of Electronic Publication: 2020 Jan 06.

GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature.

Autor: Trubnykova M; Servicio de Genética & Errores Innatos del Metabolismo (EIM), Instituto Nacional de Salud del Niño-Breña., Bazalar Montoya J; Unidad de Genética & Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas., La Serna-Infantes J; Servicio de Citogenética & Citopatología, Hospital Nacional Guillermo Almenara Irigoyen., Vásquez Sotomayor F; Servicio de Genética & Errores Innatos del Metabolismo (EIM), Instituto Nacional de Salud del Niño-Breña., Castro Mujica MDC; Facultad de Medicina Humana, Universidad Ricardo Palma., Abarca Barriga HH; Servicio de Genética & Errores Innatos del Metabolismo (EIM), Instituto Nacional de Salud del Niño-Breña.; Facultad de Medicina Humana, Universidad Ricardo Palma.; Facultad de Odontología, Universidad Científica del Sur, Lima, Peru.

Publikováno v: Molecular syndromology [Mol Syndromol] 2019 Jul; Vol. 10 (4), pp. 186-194. Date of Electronic Publication: 2019 Apr 16.

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.