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Podgląd okładki
Tytuł :
Design Thinking: Assessing the health needs of college students with intellectual and/or developmental disabilities.
Autorzy :
Milroy JJ; Department of Public Health Education, University of North Carolina Greensboro, Greensboro, NC, USA.
Oakes LR; Department of Health and Human Performance, Texas State University, San Marcos, TX, USA.
Hickerson BD; Department of Community and Therapeutic Recreation, University of North Carolina Greensboro, Greensboro, NC, USA.
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Źródło :
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 Nov; Vol. 34 (6), pp. 1408-1420. Date of Electronic Publication: 2021 Mar 20.
Typ publikacji :
Journal Article
MeSH Terms :
Developmental Disabilities*
Intellectual Disability*
Child ; Humans ; Mental Health ; Students ; Surveys and Questionnaires
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Entitlement, Hope, and Life Satisfaction Among Mothers of Children with Developmental Disabilities.
Autorzy :
George-Levi S; School of Behavioral Science, Peres Academic Center, Rehovot, Israel. .
Laslo-Roth R; School of Behavioral Science, Peres Academic Center, Rehovot, Israel.
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Źródło :
Journal of autism and developmental disorders [J Autism Dev Disord] 2021 Nov; Vol. 51 (11), pp. 3818-3828. Date of Electronic Publication: 2021 Jan 04.
Typ publikacji :
Journal Article
MeSH Terms :
Autism Spectrum Disorder*
Developmental Disabilities*
Child ; Female ; Humans ; Parenting ; Personal Satisfaction ; Stress, Psychological
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Enhancing research practices in intellectual and developmental disabilities through person-centered outcome evaluation.
Autorzy :
Schalock RL; Hastings College, Nebraska, United States. Electronic address: .
Luckasson R; Department of Special Education, University of New Mexico, United States. Electronic address: .
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Źródło :
Research in developmental disabilities [Res Dev Disabil] 2021 Oct; Vol. 117, pp. 104043. Date of Electronic Publication: 2021 Jul 26.
Typ publikacji :
Journal Article
MeSH Terms :
Developmental Disabilities*/therapy
Intellectual Disability*
Child ; Humans ; Outcome Assessment, Health Care
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Negative emotions in siblings of individuals with developmental disabilities: The roles of early maladaptive schemas and system justification.
Autorzy :
Yaldız AH; Department of Psychology, TED University, Ziya Gokalp Street, No: 47-48, 06420, Cankaya, Ankara, Turkey. Electronic address: .
Solak N; Department of Psychology, TED University, Ziya Gokalp Street, No: 47-48, 06420, Cankaya, Ankara, Turkey. Electronic address: .
Ikizer G; Department of Psychology, TOBB University of Economics and Technology, Sogutozu Street, No: 43, 06510, Cankaya, Ankara, Turkey. Electronic address: .
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Źródło :
Research in developmental disabilities [Res Dev Disabil] 2021 Oct; Vol. 117, pp. 104046. Date of Electronic Publication: 2021 Aug 11.
Typ publikacji :
Journal Article
MeSH Terms :
Developmental Disabilities*
Siblings*
Adaptation, Psychological ; Adolescent ; Child ; Cross-Sectional Studies ; Emotions ; Humans
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Ongoing Transformation in the Field of Intellectual and Developmental Disabilities: Taking Action for Future Progress.
Autorzy :
Schalock RL; Robert L. Schalock, Hastings College (Nebraska).
Luckasson R; Ruth Luckasson, University of New Mexico.
Tassé MJ; Marc J. Tassé, The Ohio State University.
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Źródło :
Intellectual and developmental disabilities [Intellect Dev Disabil] 2021 Oct 01; Vol. 59 (5), pp. 380-391.
Typ publikacji :
Journal Article
MeSH Terms :
Developmental Disabilities*
Intellectual Disability*
Child ; Humans ; Longitudinal Studies
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Developmental disabilities across the world: A scientometric review from 1936 to 2020.
Autorzy :
Carollo A; Department of Psychology and Cognitive Science, University of Trento, Rovereto, Italy.
Bonassi A; Department of Psychology and Cognitive Science, University of Trento, Rovereto, Italy; Mobile and Social Computing Lab, Bruno Kessler Foundation, Trento, Italy.
Lim M; Psychology Program, School of Social Sciences, Nanyang Technological University, Singapore, Singapore.
Gabrieli G; Psychology Program, School of Social Sciences, Nanyang Technological University, Singapore, Singapore.
Setoh P; Psychology Program, School of Social Sciences, Nanyang Technological University, Singapore, Singapore.
Dimitriou D; Sleep Research and Education Laboratory, UCL Institute of Education, London, United Kingdom.
Aryadoust V; National Institute of Education, Nanyang Technological University, Singapore, Singapore.
Esposito G; Department of Psychology and Cognitive Science, University of Trento, Rovereto, Italy; Psychology Program, School of Social Sciences, Nanyang Technological University, Singapore, Singapore; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore. Electronic address: .
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Źródło :
Research in developmental disabilities [Res Dev Disabil] 2021 Oct; Vol. 117, pp. 104031. Date of Electronic Publication: 2021 Jul 29.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Bibliometrics*
Developmental Disabilities*
Child ; Cluster Analysis ; Humans ; Publications ; Research Design
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Stress in Egyptian parents of children with developmental disabilities. The moderating effect of social support.
Autorzy :
Alsaman MA; College of Special Education, Misr University for Science and Technology, Al-Motamayez District, 6th of October City, Giza, 12568, Egypt. Electronic address: .
Abd El-Naiem HN; College of Special Education, Misr University for Science and Technology, Al-Motamayez District, 6th of October City, Giza, 12568, Egypt.
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Źródło :
Research in developmental disabilities [Res Dev Disabil] 2021 Oct; Vol. 117, pp. 104045. Date of Electronic Publication: 2021 Jul 26.
Typ publikacji :
Journal Article
MeSH Terms :
Developmental Disabilities*
Parents*
Child ; Egypt ; Humans ; Parenting ; Social Support ; Stress, Psychological
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.
Autorzy :
Dongerdiye R; Hematogenetics, National Institute of Immunohaematology, Mumbai, Maharashtra, India.
Jagadeesh S; Department of Clinical Genetics and Genetic Counseling Department, MediScan Systems, Chennai, Tamil Nadu, India.
Suresh B; Department of Clinical Genetics and Genetic Counseling Department, MediScan Systems, Chennai, Tamil Nadu, India.
Rajendran A; Department of Hematology, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India.
Devendra R; Hematogenetics, National Institute of Immunohaematology, Mumbai, Maharashtra, India.
Warang P; Hematogenetics, National Institute of Immunohaematology, Mumbai, Maharashtra, India.
Kedar PS; Hematogenetics, National Institute of Immunohaematology, Mumbai, Maharashtra, India .
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Źródło :
Journal of clinical pathology [J Clin Pathol] 2021 Oct; Vol. 74 (10), pp. 620-624. Date of Electronic Publication: 2020 Dec 25.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Mutation, Missense*
Anemia, Hemolytic/*genetics
Developmental Disabilities/*genetics
Hexokinase/*deficiency
Adult ; Age Factors ; Anemia, Hemolytic/diagnosis ; Anemia, Hemolytic/enzymology ; Child Development ; Child, Preschool ; DNA Mutational Analysis ; Developmental Disabilities/diagnosis ; Developmental Disabilities/enzymology ; Female ; Genetic Predisposition to Disease ; Heredity ; Hexokinase/genetics ; Hexokinase/metabolism ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; India ; Male ; Pedigree ; Phenotype ; Severity of Illness Index ; Whole Exome Sequencing ; Young Adult
SCR Disease Name :
Hexokinase Deficiency Hemolytic Anemia
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Heterogeneous development of children with Congenital Zika Syndrome-associated microcephaly.
Autorzy :
Aguilar Ticona JP; Instituto de Saúde Coletiva, Universidade Federal da Bahia, Salvador, BA, Brazil.; Instituto Gonçalo Moniz, Fundação Oswaldo Cruz, Ministério da Saúde, Salvador, BA, Brazil.
Nery N Jr; Instituto de Saúde Coletiva, Universidade Federal da Bahia, Salvador, BA, Brazil.; Instituto Gonçalo Moniz, Fundação Oswaldo Cruz, Ministério da Saúde, Salvador, BA, Brazil.
Doss-Gollin S; Precision Vaccines Program, Division of Infectious Diseases, Boston Children's Hospital, Boston, MA, United States of America.
Gambrah C; Department of Epidemiology of Microbial Diseases, Yale School of Public Health, New Haven, Connecticut, United States of America.
Lessa M; Instituto de Saúde Coletiva, Universidade Federal da Bahia, Salvador, BA, Brazil.
Rastely-Júnior V; Faculdade de Medicina da Bahia, Universidade Federal da Bahia, Salvador, BA, Brazil.
Matos A; Hospital Geral Roberto Santos (HGRS), Salvador, BA, Brazil.
de Paula Freitas B; Hospital Geral Roberto Santos (HGRS), Salvador, BA, Brazil.; Faculdade de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Borja A; Departamento de Fonoaudiologia, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brazil.
Wunder EA Jr; Instituto Gonçalo Moniz, Fundação Oswaldo Cruz, Ministério da Saúde, Salvador, BA, Brazil.; Department of Epidemiology of Microbial Diseases, Yale School of Public Health, New Haven, Connecticut, United States of America.
Ballalai V; Hospital Geral Roberto Santos (HGRS), Salvador, BA, Brazil.
Vieira C; Hospital Geral Roberto Santos (HGRS), Salvador, BA, Brazil.
Cruz JS; Instituto Gonçalo Moniz, Fundação Oswaldo Cruz, Ministério da Saúde, Salvador, BA, Brazil.
de Oliveira D; Instituto Gonçalo Moniz, Fundação Oswaldo Cruz, Ministério da Saúde, Salvador, BA, Brazil.
Araujo DB; Departamento de Microbiologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil.
Oliveira DB; Departamento de Microbiologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil.
Nascimento Fabris Maeda DL; Laboratório de Desenvolvimento de Vacinas, Departamento de Microbiologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil.
Mendes EA; Departamento de Microbiologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil.
Pereira Soares C; Departamento de Microbiologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil.
Durigon EL; Departamento de Microbiologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil.
de Souza Ferreira LC; Laboratório de Desenvolvimento de Vacinas, Departamento de Microbiologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil.
Belfort R; Faculdade de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
P Almeida AR; Hospital Geral Roberto Santos (HGRS), Salvador, BA, Brazil.
Oliveira-Filho J; Faculdade de Medicina da Bahia, Universidade Federal da Bahia, Salvador, BA, Brazil.; Programa de Pós-graduação em Ciências da Saúde (PPgCS), Universidade Federal da Bahia, Salvador, BA, Brazil.
Reis MG; Instituto Gonçalo Moniz, Fundação Oswaldo Cruz, Ministério da Saúde, Salvador, BA, Brazil.; Department of Epidemiology of Microbial Diseases, Yale School of Public Health, New Haven, Connecticut, United States of America.; Faculdade de Medicina da Bahia, Universidade Federal da Bahia, Salvador, BA, Brazil.
Ko AI; Instituto Gonçalo Moniz, Fundação Oswaldo Cruz, Ministério da Saúde, Salvador, BA, Brazil.; Department of Epidemiology of Microbial Diseases, Yale School of Public Health, New Haven, Connecticut, United States of America.
Costa F; Instituto de Saúde Coletiva, Universidade Federal da Bahia, Salvador, BA, Brazil.; Instituto Gonçalo Moniz, Fundação Oswaldo Cruz, Ministério da Saúde, Salvador, BA, Brazil.; Department of Epidemiology of Microbial Diseases, Yale School of Public Health, New Haven, Connecticut, United States of America.
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Źródło :
PloS one [PLoS One] 2021 Sep 15; Vol. 16 (9), pp. e0256444. Date of Electronic Publication: 2021 Sep 15 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities/*diagnosis
Microcephaly/*diagnosis
Microcephaly/*epidemiology
Zika Virus Infection/*diagnosis
Brazil/epidemiology ; Cephalometry ; Child, Preschool ; Developmental Disabilities/physiopathology ; Developmental Disabilities/virology ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Microcephaly/etiology ; Microcephaly/virology ; Neurologic Examination ; Pregnancy ; Pregnancy Complications, Infectious/diagnosis ; Pregnancy Complications, Infectious/epidemiology ; Pregnancy Complications, Infectious/physiopathology ; Pregnancy Complications, Infectious/virology ; Zika Virus/pathogenicity ; Zika Virus Infection/complications ; Zika Virus Infection/virology
Czasopismo naukowe
Szczegóły Pełny tekst
Podgląd okładki
Tytuł :
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Autorzy :
Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Venditti R; Telethon Institute of Genetics and Medicine, Naples 80078, Italy.
Clément A; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Blanco-Sánchez B; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, and Department of Pediatrics, University of Washington, and Brotman Baty Institute for Precision Medicine, Seattle, WA 98105, USA.
DeVile C; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Roberts R; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Calder AD; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Allgrove J; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Grafe I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lanza DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Li X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Joeng KS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lee YC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Sliepka JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Batkovskyte D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Washington M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Dawson BC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jin Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jiang MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Chen S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Chen Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Emrick LT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Laboratory for Translational Genomics, ARS/USDA Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA.
Zapata GE; Laboratory for Translational Genomics, ARS/USDA Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA.
Mehta NR; Laboratory for Translational Genomics, ARS/USDA Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA.
Weis MA; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA 98195, USA.
Scott AA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.
Tremp BA; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Phillips JB; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Wegner J; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Taylor-Miller T; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Hicks J; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pathology, Texas Children's Hospital, and Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA.
Stottmann RW; Division of Human Genetics, and Division of Developmental Biology, and Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Dickinson ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Seavitt JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Eyre DR; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA 98195, USA.
Westerfield M; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
De Matteis MA; Telethon Institute of Genetics and Medicine, Naples 80078, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Napoli Federico II, Naples 80078, Italy.
Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: .
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Corporate Authors :
Undiagnosed Diseases Network
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1710-1724. Date of Electronic Publication: 2021 Aug 26.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Bone and Bones/*metabolism
Coat Protein Complex I/*genetics
Coatomer Protein/*genetics
Developmental Disabilities/*genetics
Intellectual Disability/*genetics
Osteoporosis/*genetics
Animals ; Ascorbic Acid/pharmacology ; Bone and Bones/drug effects ; Bone and Bones/pathology ; Brain/diagnostic imaging ; Brain/drug effects ; Brain/metabolism ; Brain/pathology ; Child ; Child, Preschool ; Coat Protein Complex I/deficiency ; Coatomer Protein/chemistry ; Coatomer Protein/deficiency ; Collagen Type I/genetics ; Collagen Type I/metabolism ; Developmental Disabilities/diagnostic imaging ; Developmental Disabilities/metabolism ; Developmental Disabilities/pathology ; Embryo, Nonmammalian ; Endoplasmic Reticulum/drug effects ; Endoplasmic Reticulum/metabolism ; Endoplasmic Reticulum/pathology ; Female ; Fibroblasts/drug effects ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Gene Expression Regulation, Developmental ; Golgi Apparatus ; Haploinsufficiency ; Humans ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/metabolism ; Intellectual Disability/pathology ; Male ; Mice ; Osteoporosis/drug therapy ; Osteoporosis/metabolism ; Osteoporosis/pathology ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; Severity of Illness Index ; Zebrafish
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Autorzy :
Goodman LD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
Nil Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Ravenscroft TA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Tien AC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, Nijmegen, the Netherlands.
Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, Nijmegen, the Netherlands.
Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, the Netherlands.
Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
Wassink-Ruiter JSK; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
Wevers MR; Department of Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Jones M; Houston Area Pediatric Neurology, 24514 Kingsland Blvd, Katy, TX 77494, USA.
Walsh LE; Department of Pediatric Neurology, Riley Hospital for Children, Indianapolis, IN 46202, USA.
Klee VH; Department of Pediatric Neurology, Riley Hospital for Children, Indianapolis, IN 46202, USA.
Theunis M; Center for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium.
Legius E; Department of Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.
Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Barwick KES; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Mohammad SS; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, Westmead, NSW 2145, Australia.
Dale RC; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, Westmead, NSW 2145, Australia.
Terhal PA; Department of Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
Kirmse B; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Robinette B; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Cogné B; Centre hospitalier universitaire (CHU) de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, Centre hospitalier universitaire (CHU) de Nantes, l'institut du thorax, 44007 Nantes, France.
Isidor B; Centre hospitalier universitaire (CHU) de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, Centre hospitalier universitaire (CHU) de Nantes, l'institut du thorax, 44007 Nantes, France.
Grebe TA; Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Department of Child Health, University of Arizona College of Medicine Phoenix, Phoenix, AZ 85004, USA.
Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Hainline BE; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Sapp K; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Trapane P; University of Florida, College of Medicine, Jacksonville, Jacksonville, FL 32209, USA.
Spencer C; University of Florida, College of Medicine, Jacksonville, Jacksonville, FL 32209, USA.
Si Y; GeneDx, Gaithersburg, MD 20877, USA.
Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.
Moulton MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Dutta D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA.
Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: .
Tan QK; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. Electronic address: .
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Corporate Authors :
Undiagnosed Diseases Network; The Undiagnosed Diseases Network (UDN) consortia, see Supplemental Note S2 for co-investigators, Harvard University, Cambridge, MA 02138, USA.
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1669-1691. Date of Electronic Publication: 2021 Jul 26.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities/*genetics
Drosophila Proteins/*genetics
Eye Diseases, Hereditary/*genetics
Intellectual Disability/*genetics
Karyopherins/*genetics
Musculoskeletal Abnormalities/*genetics
beta Karyopherins/*genetics
ran GTP-Binding Protein/*genetics
Alleles ; Amino Acid Sequence ; Animals ; Developmental Disabilities/metabolism ; Developmental Disabilities/pathology ; Drosophila Proteins/antagonists & inhibitors ; Drosophila Proteins/metabolism ; Drosophila melanogaster/genetics ; Drosophila melanogaster/growth & development ; Drosophila melanogaster/metabolism ; Eye Diseases, Hereditary/metabolism ; Eye Diseases, Hereditary/pathology ; Female ; Gene Dosage ; Gene Expression Regulation, Developmental ; Genome, Human ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/metabolism ; Intellectual Disability/pathology ; Karyopherins/antagonists & inhibitors ; Karyopherins/metabolism ; Male ; Musculoskeletal Abnormalities/metabolism ; Musculoskeletal Abnormalities/pathology ; Mutation ; Neurons/metabolism ; Neurons/pathology ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; Sequence Alignment ; Sequence Homology, Amino Acid ; Whole Genome Sequencing ; beta Karyopherins/metabolism ; ran GTP-Binding Protein/metabolism
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Autorzy :
Stolz JR; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Foote KM; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Veenstra-Knol HE; Department of Genetics, University Medical Center Groningen, Groningen 9700, the Netherlands.
Pfundt R; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6525, the Netherlands.
Ten Broeke SW; Department of Genetics, University Medical Center Groningen, Groningen 9700, the Netherlands.
de Leeuw N; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6525, the Netherlands.
Roht L; Department of Clinical Genetics, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Tartu University, Tartu 51003, Estonia.
Pajusalu S; Department of Clinical Genetics, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Tartu University, Tartu 51003, Estonia.
Part R; Department of Neonatal and Infant Medicine, Tallinn Children's Hospital, Tallinn 13419, Estonia.
Rebane I; Department of Neonatal and Infant Medicine, Tallinn Children's Hospital, Tallinn 13419, Estonia.
Õunap K; Department of Clinical Genetics, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Tartu University, Tartu 51003, Estonia.
Stark Z; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
Kirk EP; School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Randwick, NSW 2031, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
Lawson JA; Department of Neurology, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
Lunke S; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.
Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Rogers RC; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Davis JM; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Innes AM; Departments of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Alberta T2N 4N1, Canada.
Wei XC; Department of Diagnostic Imaging, Cumming School of Medicine, University of Calgary, AB T2N 4N1, Canada.
Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Paris 75013, France.
Mignot C; Département de Génétique, Hôpital Pitié-Salpêtrière, Paris 75013, France.
Lebel RR; Division of Development, Behavior, and Genetics, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Sperber SM; Department of Pathology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Sakonju A; Department of Neurology, Upstate Health Care Center, Syracuse, NY 13210, USA.
Dosa N; Division of Development, Behavior, and Genetics, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, 2333 Leiden, the Netherlands.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
van Bon BW; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6525, the Netherlands.
Kennedy J; University Hospital Bristol, NHS Foundation Trust, Bristol BS1 3NU, UK.
Low KJ; University Hospital Bristol, NHS Foundation Trust, Bristol BS1 3NU, UK.
Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Pang L; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Junewick JJ; Department of Radiology, Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA.
Mark PR; Spectrum Health Medical Genetics, Grand Rapids, MI 49503, USA.
Carvill GL; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Swanson GT; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1692-1709. Date of Electronic Publication: 2021 Aug 09.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Brain/*metabolism
Developmental Disabilities/*genetics
Epilepsy/*genetics
Intellectual Disability/*genetics
Receptors, Kainic Acid/*genetics
Adolescent ; Adult ; Alleles ; Brain/diagnostic imaging ; Brain/pathology ; Child ; Child, Preschool ; Developmental Disabilities/diagnostic imaging ; Developmental Disabilities/metabolism ; Developmental Disabilities/pathology ; Epilepsy/diagnostic imaging ; Epilepsy/metabolism ; Epilepsy/pathology ; Evoked Potentials/physiology ; Gene Expression Regulation, Developmental ; Genetic Association Studies ; Heterozygote ; Homozygote ; Humans ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/metabolism ; Intellectual Disability/pathology ; Ion Channel Gating ; Male ; Models, Molecular ; Neurons/metabolism ; Neurons/pathology ; Protein Conformation ; Receptors, Kainic Acid/chemistry ; Receptors, Kainic Acid/metabolism
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Psychotropic Use Among Youths With Intellectual and Developmental Disabilities.
Autorzy :
McLaren JL; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
Lichtenstein JD; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
Metcalfe JD; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
Charlot LR; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
Drake RE; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
Beasley JB; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
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Źródło :
Psychiatric services (Washington, D.C.) [Psychiatr Serv] 2021 Sep 01; Vol. 72 (9), pp. 988-997. Date of Electronic Publication: 2021 Apr 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities*/drug therapy
Developmental Disabilities*/epidemiology
Intellectual Disability*/drug therapy
Intellectual Disability*/epidemiology
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Cross-Sectional Studies ; Humans ; Polypharmacy ; Psychotropic Drugs/therapeutic use ; Young Adult
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Examining the relation between empowerment and civic engagement among parents of individuals with intellectual and developmental disabilities.
Autorzy :
Burke MM; University of Illinois at Urbana-Champaign, Champaign, IL, USA.
Rossetti Z; Boston University, Boston, MA, USA.
Aleman-Tovar J; University of Illinois at Urbana-Champaign, Champaign, IL, USA.
Rios K; University of Illinois at Chicago, Chicago, IL, USA.
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Źródło :
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 Nov; Vol. 34 (6), pp. 1569-1581. Date of Electronic Publication: 2021 May 16.
Typ publikacji :
Journal Article
MeSH Terms :
Developmental Disabilities*
Intellectual Disability*
Child ; Education, Special ; Empowerment ; Humans ; Parents ; United States
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Complete physical examinations in Manitoba adults with an intellectual or developmental disability: A retrospective cohort study.
Autorzy :
Ratnayake I; Department of Community Health Sciences, University of Manitoba, Winnipeg, Canada.
Shooshtari S; Department of Community Health Sciences, University of Manitoba, Winnipeg, Canada.
Chateau D; Department of Community Health Sciences, University of Manitoba, Winnipeg, Canada.
Kristjanson M; Department of Family Medicine, University of Manitoba, Winnipeg, Canada.
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Źródło :
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 Nov; Vol. 34 (6), pp. 1582-1591. Date of Electronic Publication: 2021 Jul 01.
Typ publikacji :
Journal Article
MeSH Terms :
Developmental Disabilities*/epidemiology
Intellectual Disability*/epidemiology
Adult ; Child ; Humans ; Male ; Manitoba ; Physical Examination ; Retrospective Studies
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Further delineation of PIGB-related early infantile epileptic encephalopathy.
Autorzy :
Schiavoni S; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy. Electronic address: .
Spagnoli C; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Rizzi S; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Salerno GG; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Frattini D; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Bergonzini P; Pediatric Neurology Unit, Department of Mother & Child, University Hospital of Modena, Italy.
Pisani F; Child Neuropsychiatry Unit, Neuroscience Division, Medicine & Surgery Department, University of Parma, Parma, Italy.
Fusco C; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy; Department of Pediatrics, Pediatric Neurophysiology Laboratory, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104268. Date of Electronic Publication: 2021 Jun 20.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Brain/*physiopathology
Developmental Disabilities/*genetics
Epilepsy/*genetics
Mannosyltransferases/*genetics
Peripheral Nervous System Diseases/*genetics
Brain/diagnostic imaging ; Child ; Developmental Disabilities/diagnosis ; Electroencephalography ; Epilepsy/diagnosis ; Female ; Humans ; Mannosyltransferases/deficiency ; Peripheral Nervous System Diseases/diagnosis ; Whole Exome Sequencing
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.
Autorzy :
Estève C; Aix Marseille Univ, INSERM, MMG, Marseille, France.
Roman C; Service de Pédiatrie Multidisciplinaire, Hôpital de La Timone Enfants, APHM, Marseille, France.
DeLeusse C; Service de Pédiatrie Multidisciplinaire, Hôpital de La Timone Enfants, APHM, Marseille, France.
Baravalle M; Service de Pneumologie Pédiatrique, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France.
Bertaux K; CRB TAC (CRB AP-HM TAC), [BIORESOURCES], Marseille, France.
Blanc F; Service D'Anesthésie Réanimation Pédiatrique, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France.
Bourgeois P; Aix Marseille Univ, INSERM, MMG, Marseille, France; Service de Génétique Médicale, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France.
Bresson V; Service D'Urgences Pédiatriques, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France.
Cano A; Service de Pédiatrie Spécialisée & Médecine Infantile, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France.
Coste ME; Service de Pédiatrie Multidisciplinaire, Hôpital de La Timone Enfants, APHM, Marseille, France.
Delteil C; Service de Médecine Légale, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France.
Lacoste C; Service de Génétique Médicale, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France.
Loosveld M; Laboratoire D'Hématologie Biologique, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France.
De Paula AM; Laboratoire D'Anatomie Pathologique, Hôpital de La Timone Enfants, APHM, Marseille, France.
Monnier AS; Service de Pédiatrie Multidisciplinaire, Hôpital de La Timone Enfants, APHM, Marseille, France.
Secq V; U1068-CRCM, Aix Marseille Univ, APHM, Hôpital Nord, Service D'anatomo-pathologie, Marseille, France.
Levy N; Aix Marseille Univ, INSERM, MMG, Marseille, France; Service de Génétique Médicale, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France.
Badens C; Aix Marseille Univ, INSERM, MMG, Marseille, France; Service de Génétique Médicale, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France.
Fabre A; Aix Marseille Univ, INSERM, MMG, Marseille, France; Service de Pédiatrie Multidisciplinaire, Hôpital de La Timone Enfants, APHM, Marseille, France. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104294. Date of Electronic Publication: 2021 Aug 03.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Developmental Disabilities/*genetics
Failure to Thrive/*genetics
Liver Diseases/*genetics
Lung Diseases/*genetics
Tyrosine-tRNA Ligase/*genetics
Developmental Disabilities/pathology ; Failure to Thrive/pathology ; Female ; Humans ; Infant ; Liver Diseases/pathology ; Loss of Function Mutation ; Lung Diseases/pathology
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
Autorzy :
Khuller K; Institute for Human Genetics, University Hospital Essen, Germany. Electronic address: .
Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany. Electronic address: .
Martínez Grijalva C; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany. Electronic address: .
Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany. Electronic address: .
Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany. Electronic address: .
Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany. Electronic address: .
Elcioglu NH; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey; Eastern Mediterranean University School of Medicine, Cyprus, Mersin, 10, Turkey. Electronic address: .
Yeter B; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey. Electronic address: .
Hehr U; Center for Human Genetics, and Department of Human Genetics, University of Regensburg, Regensburg, Germany. Electronic address: .
Stein A; Department of Pediatrics, Neonatology, University Hospital Essen, Germany. Electronic address: .
Della Marina A; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Essen, Germany, University Hospital Essen, Germany. Electronic address: .
Köninger A; Department of Obstetrics and Gynaecology, University Hospital Essen, University Duisburg-Essen, Essen, Germany. Electronic address: .
Depienne C; Institute for Human Genetics, University Hospital Essen, Germany. Electronic address: .
Kaiser FJ; Institute for Human Genetics, University Hospital Essen, Germany. Electronic address: .
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany. Electronic address: .
Kuechler A; Institute for Human Genetics, University Hospital Essen, Germany. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104310. Date of Electronic Publication: 2021 Aug 13.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Phenotype*
Developmental Disabilities/*genetics
Epilepsy/*genetics
Microcephaly/*genetics
Symporters/*genetics
Brain/diagnostic imaging ; Brain/pathology ; Child, Preschool ; Developmental Disabilities/pathology ; Epilepsy/pathology ; Female ; Humans ; Infant ; Male ; Microcephaly/pathology ; Mutation
Czasopismo naukowe
Szczegóły
Podgląd okładki
Tytuł :
Important Considerations for COVID-19 Vaccination of Children With Developmental Disabilities.
Autorzy :
Tinker SC; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia .
Cogswell ME; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
Peacock G; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
Ryerson AB; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
Pokaż więcej
Źródło :
Pediatrics [Pediatrics] 2021 Oct; Vol. 148 (4). Date of Electronic Publication: 2021 Jul 16.
Typ publikacji :
Journal Article
MeSH Terms :
COVID-19 Vaccines*/adverse effects
Developmental Disabilities*/epidemiology
COVID-19/*prevention & control
COVID-19/epidemiology ; Child ; Comorbidity ; Healthcare Disparities ; Humans ; Incidence ; Risk Factors ; SARS-CoV-2
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 87390

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