Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome.

Autor: de Winter CF (AUTHOR), van Dijk F (AUTHOR), Stolker JJ (AUTHOR), Hennekam RCM (AUTHOR)

Publikováno v: Journal of Intellectual Disability Research. Apr2009, Vol. 53 Issue 4, p319-328. 10p.

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Autor: Zollino M; Fondazione Policlinico Universitario A.Gemelli, IRCCS, UOC Genetica.; Università Cattolica Sacro Cuore, Istituto di Medicina Genomica, Roma, Italy., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Van Balkom ID; Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, The Netherlands.; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, The Netherlands., Sweetser DA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts., Alaimo J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Cody J; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Giurgea I; Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Département de Génétique Médicale, Hôpital Trousseau, Paris, France., Macchiaiolo M; Rare and Genetic Diseases Unit, Bambino Gesù Children's Hospital, Rome, Italy., Smigiel R; Department of Pediatrics, Division of Pediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland., Thibert RL; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts., Benoist I; Dutch Pitt-Hopkins Syndrome Foundation, Vlaggeschip, Oosterhout, The Netherlands., Clayton-Smith J; Manchester Centre for Genomic Medicine, St Mary's Hospital, and Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester, Manchester, UK., De Winter CF; Organisation for Individuals with Intellectual Disabilities, Trajectum, Zwolle, The Netherlands., Deckers S; Department of Pedagogical Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands., Gandhi A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Huisman S; Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands., Kempink D; Department of Orthopedic Surgery, Sophia Children's Hospital, UMCR, Rotterdam, The Netherlands., Kruisinga F; Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands., Lamacchia V; Department of Medical Genetics, University of Siena, Siena, Italy., Marangi G; Fondazione Policlinico Universitario A.Gemelli, IRCCS, UOC Genetica.; Università Cattolica Sacro Cuore, Istituto di Medicina Genomica, Roma, Italy., Menke L; Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands., Mulder P; Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, The Netherlands.; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, The Netherlands., Nordgren A; Karolinska Center for Rare Diseases, Karolinska University Hospital, Stockholm, Sweden., Renieri A; Department of Medical Genetics, University of Siena, Siena, Italy., Routledge S; Pitt Hopkins UK, Ilford, UK., Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri., Stembalska A; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Van Balkom H; Behavioral Science Institute, Radboud University Nijmegen, Nijmegen, The Netherlands., Whalen S; Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Département de Génétique Médicale, Hôpital Trousseau, Paris, France., Hennekam RC; Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands.

Publikováno v: Clinical genetics [Clin Genet] 2019 Apr; Vol. 95 (4), pp. 462-478. Date of Electronic Publication: 2019 Feb 18.

Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.

Autor: Chiu, Celine¹ (AUTHOR), Küchler, Alma² (AUTHOR), Depienne, Christel² (AUTHOR), Preuße, Corinna^3,4 (AUTHOR), Marina, Adela Della¹ (AUTHOR), Reis, Andre⁵ (AUTHOR), Kaiser, Frank J.² (AUTHOR), Nolte, Kay⁶ (AUTHOR), Hentschel, Andreas⁷ (AUTHOR), Schara-Schmidt, Ulrike¹ (AUTHOR), Kölbel, Heike¹ (AUTHOR), Roos, Andreas^1,8,9 (AUTHOR) andreas.roos@uk-essen.de

Publikováno v: Skeletal Muscle. 7/18/2024, Vol. 14 Issue 1, p1-12. 12p.

Assessment of Executive Function Skills in Children with Isolated Growth Hormone Deficiency: A Cross-sectional Study.

Autor: Tonkaz, Gülsüm Yitik¹ gulsumyitik@gmail.com, Çayır, Atilla²

Publikováno v: Journal of Clinical Research in Pediatric Endocrinology. Jun2024, Vol. 16 Issue 2, p177-184. 8p.

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