Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

Autor: Assia Batzir N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Brown CW; Le Bonheur Children's Hospital, Memphis, Tennessee.; Division of Medical Genetics, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee., Chen E; Department of Genetics, Kaiser Permanente, San Francisco, California., Holtrop SG; Le Bonheur Children's Hospital, Memphis, Tennessee., Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Nieto Moreno M; Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida.; Jackson Memorial Hospital, Miami, Florida., Payne K; Section of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana., Raas-Rothschild A; Institute of Rare Diseases & Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Scott R; Clinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust, London, UK., Vernon HJ; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland., Zadeh N; Genetics Center, Orange, California.; Division of Medical Genetics, Children's Hospital of Orange County, Orange, California., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jan; Vol. 182 (1), pp. 38-52. Date of Electronic Publication: 2019 Nov 29.

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Aplicación de la CIF para el estudio y evaluación del funcionamiento y la discapacidad en depresión unipolar en el ámbito de atención primaria.

Autor: Nieto-Moreno, M.¹, Gimeno Blanco, P.¹, Adán, J.², García-Olmos, L.³, Valle, J.^1,2, Chatterji, S.⁴, Leonardi, M.⁵, Ayuso-Mateos, J. L.^1,2 joseluis.ayuso@uam.es

Publikováno v: Actas Espanolas de Psiquiatria. nov2006, Vol. 34 Issue 6, p393-396. 4p.

Validación Chilena de la Versión Española de la Escala de Evaluación de la Recuperación (Recovery Assessment Scale, RAS) en Pacientes Diagnosticados con Esquizofrenia.

Autor: Ponce-Correa, Felipe¹ fponcec@academicos.uta.cl, Caqueo-Urízar, Alejandra² acaqueo@academicos.uta.cl, Bahamondes, Joaquín³ jbahamondes@ucn.cl, Urzúa, Alfonso³ alurzua@ucn.cl, Portilla-Saavedra, Diego⁴ diego.portilla@gmail.com, Cruz-Riveros, Consuelo⁵ consssu@gmail.com

Publikováno v: Revista Iberoamericana de Diagncstico y Evaluacicn Psicolcgica. 2023, Vol. 1 Issue 67, p87-99. 13p.