Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD.

Autor: Gandhi A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. anusha.gandhi@bcm.edu.; Rice University, Houston, TX, 77005, USA. anusha.gandhi@bcm.edu., Zhou D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City, Kansas City, MO, USA., Alaimo J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City, Kansas City, MO, USA., Chon E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Fountain MD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Takeda Pharmaceutical Company, Ltd, Osaka, Japan., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. elsea@bcm.edu.

Publikováno v: Journal of autism and developmental disorders [J Autism Dev Disord] 2021 Jun; Vol. 51 (6), pp. 1852-1865.

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.

From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning.

Autor: Telenga, Marlena^1,2 (AUTHOR) marlena.telenga@student.umw.edu.pl, Rozensztrauch, Anna² (AUTHOR), Giżewska-Kacprzak, Kaja³ (AUTHOR), Śmigiel, Robert¹ (AUTHOR)

Publikováno v: Journal of Clinical Medicine. May2024, Vol. 13 Issue 9, p2605. 13p.

In vitroRegulation of CalbindinD28KmRNA by 1,25-Dihydroxyvitamin D3and Estradiol in Precociously-Matured Egg Shell Gland From Vitamin D3-Depleted Chicks

Autor: Corradino Ra, Alaimo J

Publikováno v: Hormone and Metabolic Research. 27:39-40

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6461f9022a55d1123bbfc6ea366ea2d6
https://doi.org/10.1055/s-2007-979905

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.

Autor: Ford, Cara P.^1,2 (AUTHOR), Littlejohn, Rebecca O.^3,4 (AUTHOR), German, Ryan^4,5 (AUTHOR), Vuocolo, Blake^4,5 (AUTHOR), Aceves, Jose³ (AUTHOR), Vossaert, Liesbeth^4,6 (AUTHOR), Owen, Nichole^4,6 (AUTHOR), Wangler, Michael^4,5 (AUTHOR) michael.wangler@bcm.edu, Schmid, Carrie A.^3,4 (AUTHOR) carrie.schmid@bcm.edu

Publikováno v: Molecular Genetics & Genomic Medicine. Dec2023, Vol. 11 Issue 12, p1-6. 6p.