Further delineation of the SCAF4-associated neurodevelopmental disorder.

Autor: Schmid CM; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland., Gregor A; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland., Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Manso Bazús C; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Neurosciences, Boystown National Research Hospital, Boystown, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Ammouri F; The University of Kansas Health System, Westwood, KS, USA., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., McNiven V; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Steindl K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Begemann A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Suter AA; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Isidor B; Department of Medical Genetics, CHU Nantes, Nantes, France., Mercier S; Department of Medical Genetics, CHU Nantes, Nantes, France., Nizon M; Department of Medical Genetics, CHU Nantes, Nantes, France., Cogné B; Department of Medical Genetics, CHU Nantes, Nantes, France., Deb W; Department of Medical Genetics, CHU Nantes, Nantes, France., Besnard T; Department of Medical Genetics, CHU Nantes, Nantes, France., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Linden T; University Children's Hospital, Klinikum Oldenburg, Department of Neuropediatrics, Oldenburg, Germany., Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Ibrahim N; Lahore College for Women University, Lahore, Pakistan., Naz S; Lahore College for Women University, Lahore, Pakistan., Lacaze E; Department of Medical Genetics, Le Havre Hospital, Le Havre, France., Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., Zou F; GeneDx, Gaithersburg, MD, USA., Kahle JJ; GeneDx, Gaithersburg, MD, USA., Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany., Schmidt A; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany., Delrue MA; Department of Genetics, Université de Montréal, Sainte-Justine University Hospital, Montreal, Canada., Almeida PM; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal., Ramos F; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Centro de Diagnóstico Pré-natal, Unidade Local de Saúde de Coimbra, Coimbra, Portugal., Srivastava S; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Quinlan A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Robertson S; Department of Pediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand., Manka E; Center for Rare Disease Essen (Essener Zentrum für Seltene Erkrankungen-EZSE), Universitätsmedizin Essen, Essen, Germany., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Spranger S; Praxis für Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada., Elshafie RM; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait., Alsharhan H; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Health science center, College of Medicine, Kuwait University, P.O. Box 24923, Safat, Kuwait., Hillman PR; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA., Dunnington LA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA., Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center & Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., McKee S; Belfast HSC Trust, Northern Ireland Regional Genetics Service, Belfast, Northern, Ireland., Moresco A; Division of Clinical Genetics, Pediatric Department, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada., Ignat AD; Division of Clinical Genetics, Pediatric Department, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada., Newbury-Ecob R; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK., Banneau G; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France., Patat O; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France., Kuerbitz J; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Rzucidlo S; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA., Sell SS; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA., Gordon P; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Halleb Y; Le Mans Hospital, Department of Medical Genetics, Le Mans, France., Stoeva R; Le Mans Hospital, Department of Medical Genetics, Le Mans, France., Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France., Al Masseri Z; Department of Pediatrics, Medical Genetics Unit, Qatif Central Hospital, Eastern Health Cluster, Dammam, Saudi Arabia., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Hammer-Hansen S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Krüger Sølyst S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Steigerwald CG; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA., Abreu NJ; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA., Faust H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Müller-Nedebock A; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Tran Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; Génétique des Anomalies Du Développement, INSERM 123, Université de Bourgogne, Dijon, France., Sticht H; Institut für Biochemie, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland. christiane.zweier@insel.ch.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland. christiane.zweier@insel.ch.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec 12. Date of Electronic Publication: 2024 Dec 12.

The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.

Autor: Frigeni M; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Rodriguez-Buritica DF; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Saavedra H; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Gunther KA; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Hillman PR; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Balaguru D; Division of Pediatric and Congenital Cardiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Division of Cardiology, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Northrup H; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Nov; Vol. 185 (11), pp. 3510-3516. Date of Electronic Publication: 2021 Sep 02.

Postnatal changes in epigenetic modifications of neutrophils of foals are associated with increased ROS function and regulation of neutrophil function.

Autor: Dindot SV; Department of Veterinary Pathobiology, Texas A&M University College of Veterinary Medicine & Biomedical Sciences, College Station, TX, USA; Department of Molecular and Cellular Medicine, Texas A&M Health Science Center College of Medicine, College Station, TX, USA. Electronic address: sdindot@cvm.tamu.edu., Doan RN; Department of Veterinary Pathobiology, Texas A&M University College of Veterinary Medicine & Biomedical Sciences, College Station, TX, USA., Kuskie KR; Department of Large Animal Clinical Sciences, Texas A&M University College of Veterinary Medicine & Biomedical Sciences, College Station, TX, USA., Hillman PR; Department of Molecular and Cellular Medicine, Texas A&M Health Science Center College of Medicine, College Station, TX, USA., Whitfield CM; Department of Large Animal Clinical Sciences, Texas A&M University College of Veterinary Medicine & Biomedical Sciences, College Station, TX, USA., McQueen CM; Department of Large Animal Clinical Sciences, Texas A&M University College of Veterinary Medicine & Biomedical Sciences, College Station, TX, USA., Bordin AI; Department of Large Animal Clinical Sciences, Texas A&M University College of Veterinary Medicine & Biomedical Sciences, College Station, TX, USA., Bourquin JR; Department of Large Animal Clinical Sciences, Texas A&M University College of Veterinary Medicine & Biomedical Sciences, College Station, TX, USA., Cohen ND; Department of Large Animal Clinical Sciences, Texas A&M University College of Veterinary Medicine & Biomedical Sciences, College Station, TX, USA. Electronic address: ncohen@cvm.tamu.edu.

Publikováno v: Developmental and comparative immunology [Dev Comp Immunol] 2018 Oct; Vol. 87, pp. 182-187. Date of Electronic Publication: 2018 Jun 26.

Genomic imprinting does not reduce the dosage of UBE3A in neurons.

Autor: Hillman PR; Department of Veterinary Pathobiology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77845 USA.; Department of Molecular and Cellular Medicine, College of Medicine, Texas A&M Health Science Center, College Station, TX 77845 USA., Christian SGB; Department of Veterinary Pathobiology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77845 USA., Doan R; Department of Veterinary Pathobiology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77845 USA.; Interdisciplinary Genetics Program, College of Agriculture and Life Sciences, Texas A&M University, College Station, TX 77845 USA., Cohen ND; Department of Large Animal Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX USA., Konganti K; Institute for Genome Science and Society, Texas A&M University, College Station, TX 77845 USA., Douglas K; Department of Large Animal Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX USA.; Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843 USA., Wang X; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853 USA., Samollow PB; Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843 USA., Dindot SV; Department of Veterinary Pathobiology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77845 USA.; Department of Molecular and Cellular Medicine, College of Medicine, Texas A&M Health Science Center, College Station, TX 77845 USA.; Department of Veterinary Pathobiology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, 4467 TAMU, College Station, TX 77843 USA.

Publikováno v: Epigenetics & chromatin [Epigenetics Chromatin] 2017 May 15; Vol. 10, pp. 27. Date of Electronic Publication: 2017 May 15 (Print Publication: 2017).