Temat: "Neurodevelopmental disorders" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Association of congenital heart disease and neurodevelopmental disorders: an observational and Mendelian randomization study.
Autorzy:: Liu ZY; Department of Cardiology, Anhui Provincial Children's Hospital, Hefei, Anhui, China.; The Fifth School of Clinical Medicine, Anhui Medical University, Hefei, Anhui, China.
Wang QQ; Department of Cardiology, Anhui Provincial Children's Hospital, Hefei, Anhui, China.
Pang XY; Department of Cardiology, Anhui Provincial Children's Hospital, Hefei, Anhui, China.; The Fifth School of Clinical Medicine, Anhui Medical University, Hefei, Anhui, China.
Huang XB; Department of Cardiology, Anhui Provincial Children's Hospital, Hefei, Anhui, China.
Yang GM; Department of Cardiology, Anhui Provincial Children's Hospital, Hefei, Anhui, China.
Zhao S; Department of Cardiology, Anhui Provincial Children's Hospital, Hefei, Anhui, China. .; The Fifth School of Clinical Medicine, Anhui Medical University, Hefei, Anhui, China. .; Pokaż więcej
Źródło:: Italian journal of pediatrics [Ital J Pediatr] 2024 Apr 08; Vol. 50 (1), pp. 63. Date of Electronic Publication: 2024 Apr 08.
Typ publikacji:: Observational Study; Journal Article
MeSH Terms:: Premature Birth*
Heart Defects, Congenital*/epidemiology
Heart Defects, Congenital*/genetics
Neurodevelopmental Disorders*/epidemiology
Neurodevelopmental Disorders*/genetics
Language Disorders*
Infant, Newborn ; Child ; Female ; Humans ; Mendelian Randomization Analysis

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Skocz do pozycji: 2.

Tytuł:: A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.
Autorzy:: Chaves TF; Laboratório de Polimorfismos Genéticos (LAPOGE), Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil. .; Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil. .
Ocampos M; Laboratory Neurogene (former), Florianopolis, SC, Brazil.; Mercolab Diagnóstica (actual), Florianopolis, SC, Brazil.
Barbato IT; Laboratory Neurogene, Florianópolis, SC, Brazil.
de Camargo Pinto LL; Children's Hospital Joana de Gusmão, Florianópolis, SC, Brazil.
de Luca GR; Children's Hospital Joana de Gusmão, Florianópolis, SC, Brazil.
Barbato Filho JH; Laboratory Neurogene, Florianópolis, SC, Brazil.
Bernardi P; University Hospital Professor Polydoro Ernani de São Thiago, Florianópolis, SC, Brazil.
Costa Netto Muniz Y; Laboratório de Polimorfismos Genéticos (LAPOGE), Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil.
Francesca Maris A; Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil. .; Children's Hospital Joana de Gusmão, Florianópolis, SC, Brazil. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2024 Feb 14; Vol. 14 (1), pp. 3762. Date of Electronic Publication: 2024 Feb 14.
Typ publikacji:: Journal Article
MeSH Terms:: Autism Spectrum Disorder*/diagnosis
Autism Spectrum Disorder*/genetics
Neurodevelopmental Disorders*/diagnosis
Neurodevelopmental Disorders*/genetics
Intellectual Disability*/genetics
Intellectual Disability*/diagnosis
South American People*
Child ; Humans ; Cohort Studies ; Retrospective Studies ; Brazil/epidemiology ; DNA Copy Number Variations/genetics ; Uniparental Disomy ; Chromosomes

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Skocz do pozycji: 3.

Tytuł:: Complex interplay of neurodevelopmental disorders (NDDs), fractures, and osteoporosis: a mendelian randomization study.
Autorzy:: Li Z; Department of The First Clinical medicine, Shandong University of Traditional Chinese Medicine, Jinan, China.
Wu X; Department of Health Science, Shandong University of Traditional Chinese Medicine, Jinan, China. .
Li H; Department of The First Clinical medicine, Shandong University of Traditional Chinese Medicine, Jinan, China.
Bi C; Department of Vascular Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China.
Zhang C; School of Biomedical Sciences, Shandong First Medical University, Jinan, China.
Sun Y; Department of The First Clinical medicine, Shandong University of Traditional Chinese Medicine, Jinan, China.
Yan Z; Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, China. .; Pokaż więcej
Źródło:: BMC psychiatry [BMC Psychiatry] 2024 Mar 27; Vol. 24 (1), pp. 232. Date of Electronic Publication: 2024 Mar 27.
Typ publikacji:: Journal Article
MeSH Terms:: Autism Spectrum Disorder*/genetics
Autism Spectrum Disorder*/psychology
Neurodevelopmental Disorders*/genetics
Tourette Syndrome*
Attention Deficit Disorder with Hyperactivity*/genetics
Attention Deficit Disorder with Hyperactivity*/psychology
Osteoporosis*/genetics
Fractures, Bone*/genetics
Humans ; Mendelian Randomization Analysis ; Genetic Predisposition to Disease

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Skocz do pozycji: 4.

Tytuł:: Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
Autorzy:: Cavalli A; Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy. .
Caraffi SG; Medical Genetics Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy.
Rizzi S; Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy.
Trimarchi G; Medical Genetics Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy.
Napoli M; Neuroradiology Unit, Arcispedale santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy.
Frattini D; Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy.
Spagnoli C; Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy.
Garavelli L; Medical Genetics Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy.
Fusco C; Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy.; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2024 Mar 05; Vol. 17 (1), pp. 68. Date of Electronic Publication: 2024 Mar 05.
Typ publikacji:: Review; Case Reports; Journal Article
MeSH Terms:: Periventricular Nodular Heterotopia*/diagnostic imaging
Periventricular Nodular Heterotopia*/genetics
Neurodevelopmental Disorders*/genetics
Animals ; Male ; Child ; Humans ; Amino Acids ; Phosphorylation ; Brain

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Skocz do pozycji: 5.

Tytuł:: Novel Genetic and Phenotypic Expansion in Ameliorated PUF60 -Related Disorders.
Autorzy:: Baum E; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.
Huang W; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.
Vincent-Delorme C; Clinical Genetics Unit Guy Fontaine, University Hospital of Lille, F-59037 Lille, France.
Brunelle P; Institut de Génétique Médicale, University of Lille, ULR7364 RADEME, CHU Lille, F-59000 Lille, France.
Antebi A; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.
Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.; Department of Pediatric Neurology, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London WC2R 2LS, UK.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 08; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 08.
Typ publikacji:: Journal Article
MeSH Terms:: Coloboma*
Neurodevelopmental Disorders*/genetics
Humans ; Mutation, Missense ; Phenotype ; RNA Splicing Factors/genetics

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Skocz do pozycji: 6.

Tytuł:: Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
Autorzy:: Wayhelova M; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic. .; Centre of Molecular Biology and Genetics, University Hospital Brno, Brno, Czech Republic. .
Vallova V; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Centre of Molecular Biology and Genetics, University Hospital Brno, Brno, Czech Republic.
Broz P; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University Prague and University Hospital Motol, Prague, Czech Republic.
Mikulasova A; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.
Smetana J; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
Dynkova Filkova H; Centre of Molecular Biology and Genetics, University Hospital Brno, Brno, Czech Republic.
Machackova D; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
Handzusova K; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
Gaillyova R; Department of Medical Genetics and Genomics, University Hospital Brno, Brno, Czech Republic.
Kuglik P; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Centre of Molecular Biology and Genetics, University Hospital Brno, Brno, Czech Republic.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 06; Vol. 19 (1), pp. 41. Date of Electronic Publication: 2024 Feb 06.
Typ publikacji:: Journal Article
MeSH Terms:: Neurodevelopmental Disorders*/genetics
Abnormalities, Multiple*
Humans ; Child ; Exome Sequencing ; Pathology, Molecular ; DNA Copy Number Variations

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Skocz do pozycji: 7.

Tytuł:: Interleukin-23 levels in umbilical cord blood are associated with neurodevelopmental trajectories in infancy.
Autorzy:: Asaka MK; United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Suita, Japan.
Nishimura T; United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Suita, Japan.; Research Centre for Child Mental Development, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Kuwabara H; Department of Psychiatry, Hamamatsu University School of Medicine, Hamamatsu, Japan.; Department of Psychiatry, Saitama Medical University, Moroyama-chou, Saitama, Japan.
Itoh H; Department of Obstetrics and Gynecology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Takahashi N; United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Suita, Japan.; Department of Child and Adolescent Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Tsuchiya KJ; United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Suita, Japan.; Research Centre for Child Mental Development, Hamamatsu University School of Medicine, Hamamatsu, Japan.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2024 Apr 09; Vol. 19 (4), pp. e0301982. Date of Electronic Publication: 2024 Apr 09 (Print Publication: 2024).
Typ publikacji:: Journal Article
MeSH Terms:: Fetal Blood*
Neurodevelopmental Disorders*
Infant, Newborn ; Infant ; Child ; Humans ; Child, Preschool ; Interleukin-23 ; Cytokines ; Umbilical Cord

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Skocz do pozycji: 8.

Tytuł:: A multi-perspective study of Perceived Inclusive Education for students with Neurodevelopmental Disorders.
Autorzy:: Leifler E; Karolinska Institutet Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet, & Stockholm Health Care Services, Region Stockholm, Stockholm, Sweden. .; Department of Pedagogical, Curricular and Professional Studies, University of Gothenburg, Göteborg, Sweden. .
Borg A; Karolinska Institutet Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet, & Stockholm Health Care Services, Region Stockholm, Stockholm, Sweden.
Bölte S; Karolinska Institutet Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet, & Stockholm Health Care Services, Region Stockholm, Stockholm, Sweden. .; Child and Adolescent Psychiatry, Stockholm Health Care Services, Region Stockholm, Stockholm, Sweden. .; Curtin Autism Research Group, School of Allied Health, Curtin University, Perth, Western, Australia. .; Pokaż więcej
Źródło:: Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Apr; Vol. 54 (4), pp. 1611-1617. Date of Electronic Publication: 2022 Jul 04.
Typ publikacji:: Journal Article
MeSH Terms:: Autism Spectrum Disorder*
Neurodevelopmental Disorders*
Humans ; Students ; Educational Status ; Schools

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Skocz do pozycji: 9.

Tytuł:: Analyses of Conditional Knockout Mice for Pogz , a Gene Responsible for Neurodevelopmental Disorders in Excitatory and Inhibitory Neurons in the Brain.
Autorzy:: Hamada N; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
Nishijo T; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
Iwamoto I; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
Shifman S; Department of Genetics, The Alexander Silberman Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem 91904, Israel.
Nagata KI; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.; Department of Neurochemistry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.; Pokaż więcej
Źródło:: Cells [Cells] 2024 Mar 19; Vol. 13 (6). Date of Electronic Publication: 2024 Mar 19.
Typ publikacji:: Journal Article
MeSH Terms:: Intellectual Disability*/genetics
Neurodevelopmental Disorders*/genetics
Animals ; Humans ; Mice ; Brain ; Mice, Knockout ; Neurons/metabolism

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Skocz do pozycji: 10.

Tytuł:: De novo variants of IRF2BPL result in developmental epileptic disorder.
Autorzy:: Wang Y; Department of Pediatrics, Fujian Medical University Union Hospital, No. 29, Xinquan Road, Gulou District, 350001, Fuzhou, Fujian, China. .
Ke Z; Department of Pediatrics, Fujian Medical University Union Hospital, No. 29, Xinquan Road, Gulou District, 350001, Fuzhou, Fujian, China.
Li Y; Department of Pediatrics, Linyi People's Hospital, 276003, Linyi, Shandong, China.
Qiu M; Department of Pediatrics, Fujian Medical University Union Hospital, No. 29, Xinquan Road, Gulou District, 350001, Fuzhou, Fujian, China.
Liu J; Cipher Gene LLC, 100089, Beijing, China.
Yang Z; Cipher Gene LLC, 100089, Beijing, China.
Wen S; Cipher Gene LLC, 100089, Beijing, China.
Liang M; Cipher Gene LLC, 100089, Beijing, China.
Chen S; Department of Pediatrics, Fujian Medical University Union Hospital, No. 29, Xinquan Road, Gulou District, 350001, Fuzhou, Fujian, China.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 13; Vol. 19 (1), pp. 121. Date of Electronic Publication: 2024 Mar 13.
Typ publikacji:: Journal Article
MeSH Terms:: Epilepsy*/genetics
Epilepsy*/diagnosis
Neurodevelopmental Disorders*/genetics
Animals ; Humans ; Zebrafish/genetics ; Mutation ; Seizures ; Carrier Proteins/genetics ; Nuclear Proteins/genetics

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