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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas, Elena; Blanco-Kelly, Fiona; Lopez-Grondona, Fermina; Swafiri, Saoud Tahsin; Lopez-Rodriguez, Rosario; Losada-Del Pozo, Rebeca; Mahillo-Fernandez, Ignacio; Moreno, Beatriz; Rodrigo-Moreno, Maria; Casas-Alba, Didac; Lopez-Gonzalez, Aitor; García-Miñaúr, Sixto; Ángeles Mori, Maria; Pacio-Minguez, Marta; Rikeros-Orozco, Emi; Santos-Simarro, Fernando; Cruz-Rojo, Jaime; Quesada-Espinosa, Juan Francisco; Sanchez-Calvin, Maria Teresa; Sanchez-Del Pozo, Jaime; Bernado Fonz, Raquel; Isidoro-Garcia, Maria; Ruiz-Ayucar, Irene; Alvarez-Mora, Maria Isabel; Blanco-Lago, Raquel; De Azua, Begoña; Eiris, Jesus; Garcia-Peñas, Juan Jose; Gil-Fournier, Belen; Gomez-Lado, Carmen; Irazabal, Nadia; Lopez-Gonzalez, Vanessa; Madrigal, Irene; Malaga, Ignacio; Martinez-Menendez, Beatriz; Ramiro-Leon, Soraya; Garcia-Hoyos, Maria; Prieto-Matos, Pablo; Lopez-Pison, Javier; Aguilera-Albesa, Sergio; Alvarez, Sara; Fernández-Jaén, Alberto; Llano-Rivas, Isabel; Gener-Querol, Blanca; Ayuso, Carmen; Arteche-Lopez, Ana; Palomares-Bralo, Maria; Cueto-González, Anna; Valenzuela, Irene; Martinez-Monseny, Antonio.
Afiliación
  • Martinez-Cayuelas E; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain.
  • Blanco-Kelly F; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.
  • Lopez-Grondona F; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Swafiri ST; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.
  • Lopez-Rodriguez R; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.
  • Losada-Del Pozo R; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Mahillo-Fernandez I; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.
  • Moreno B; School of Pharmacy, Universidad San Pablo CEU. CEU Universities, Madrid, Spain.
  • Rodrigo-Moreno M; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain.
  • Casas-Alba D; Department of Statistics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.
  • Lopez-Gonzalez A; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain.
  • García-Miñaúr S; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain.
  • Ángeles Mori M; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain.
  • Pacio-Minguez M; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain.
  • Rikeros-Orozco E; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Santos-Simarro F; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
  • Cruz-Rojo J; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Quesada-Espinosa JF; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
  • Sanchez-Calvin MT; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
  • Sanchez-Del Pozo J; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
  • Bernado Fonz R; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Isidoro-Garcia M; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
  • Ruiz-Ayucar I; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Alvarez-Mora MI; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Blanco-Lago R; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.
  • De Azua B; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Eiris J; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Garcia-Peñas JJ; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Gil-Fournier B; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Gomez-Lado C; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Irazabal N; Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain.
  • Lopez-Gonzalez V; Department of Biochemistry, Hospital Universitario de Salamanca. IBSAL Universidad de Salamanca, Salamanca, Spain.
  • Madrigal I; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain.
  • Malaga I; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain.
  • Martinez-Menendez B; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain.
  • Ramiro-Leon S; Department of Pediatrics, Hospital Son Llàtzer, Palma de Mallorca, Spain.
  • Garcia-Hoyos M; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain.
  • Prieto-Matos P; Pediatric Neurology Unit, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
  • Lopez-Pison J; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain.
  • Aguilera-Albesa S; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain.
  • Alvarez S; Department of Pediatrics, Hospital Can Misses, Eivissa, Spain.
  • Fernández-Jaén A; Medical Genetics Unit, Department of Genetics, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
  • Llano-Rivas I; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Gener-Querol B; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain.
  • Ayuso C; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain.
  • Arteche-Lopez A; Pediatric Neurology Unit, Department of Neurology, Hospital Universitario de Getafe, Madrid, Spain.
  • Palomares-Bralo M; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain.
  • Cueto-González A; Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain.
  • Valenzuela I; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain.
  • Martinez-Monseny A; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Miguel Servet, Zaragoza, Spain.
J Med Genet ; 60(7): 644-654, 2023 07.
Article en En | MEDLINE | ID: mdl-36446582
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Dentarias / Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Humans / Male Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: España
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Dentarias / Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Humans / Male Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: España