Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

English (EN)·Polski (PL)·Ukraiński (UK)
Przejdź do strony domowej biblioteki Uniwersytet Ekonomiczny we Wrocławiu Link otwiera się w nowym oknie Logo biblioteki Prolib Integro - strona głównaUniwersytet Ekonomiczny we Wrocławiu

Wyszukujesz frazę ""PRADER-Willi syndrome"" wg kryterium: Temat

  Lista filtrów
Wyrównaj
Wyświetlanie 1-20 z 7189

Starter badań:

Tytuł:
The Pivotal Role of Oxytocin's Mechanism of Thermoregulation in Prader-Willi Syndrome, Schaaf-Yang Syndrome, and Autism Spectrum Disorder.
Autorzy:
Camerino C; Department of Precision and Regenerative Medicine, School of Medicine, University of Bari Aldo Moro, P.za G. Cesare 11, 70100 Bari, Italy.; Department of Physiology and Pharmacology 'V. Erspamer', Sapienza University of Rome, P.le Aldo Moro 5, 00185 Rome, Italy.
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; Review
MeSH Terms:
Autism Spectrum Disorder*/genetics
Autism Spectrum Disorder*/metabolism
Body Temperature Regulation*
Chromosome Disorders*
Developmental Disabilities*/genetics
Developmental Disabilities*/metabolism
Facies*
Hypopituitarism*
Imprinting Disorders*
Oxytocin*
Prader-Willi Syndrome*/genetics
Prader-Willi Syndrome*/metabolism
Humans ; Infant ; Muscle Hypotonia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Psychotic illness in people with Prader-Willi syndrome: a systematic review of clinical presentation, course and phenomenology.
Autorzy:
Aman LCS; Department of Psychiatry, University of Cambridge, Cambridge, UK. .
Lester SD; Department of Psychiatry, University of Cambridge, Cambridge, UK.
Holland AJ; Department of Psychiatry, University of Cambridge, Cambridge, UK.
Fletcher PC; Department of Psychiatry, University of Cambridge, Cambridge, UK.; Wellcome Trust MRC Institute of Metabolic Science, Biomedical Campus, Cambridge, UK.; Cambridgeshire and Peterborough National Health Service Foundation Trust, Cambridge, UK.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 15; Vol. 19 (1), pp. 69. Date of Electronic Publication: 2024 Feb 15.
Typ publikacji:
Systematic Review; Journal Article; Review
MeSH Terms:
Prader-Willi Syndrome*/diagnosis
Psychotic Disorders*/genetics
Adolescent ; Infant, Newborn ; Humans ; Comorbidity ; Family ; Anxiety ; Chromosomes, Human, Pair 15/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome.
Autorzy:
Dykens EM; Department of Psychology and Human Development, Vanderbilt University, Vanderbilt Kennedy Center, 1 Magnolia Circle, 37203, Nashville, TN, USA. .
Roof E; Department of Psychology and Human Development, Vanderbilt University, Vanderbilt Kennedy Center, 1 Magnolia Circle, 37203, Nashville, TN, USA.
Hunt-Hawkins H; Department of Psychology and Human Development, Vanderbilt University, Vanderbilt Kennedy Center, 1 Magnolia Circle, 37203, Nashville, TN, USA.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 23; Vol. 19 (1), pp. 83. Date of Electronic Publication: 2024 Feb 23.
Typ publikacji:
Journal Article
MeSH Terms:
Prader-Willi Syndrome*/genetics
Humans ; Reproducibility of Results ; Hyperphagia/genetics ; Anxiety ; Emotions
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A 14-year-old male patient with diagnosis of Prader-Willi syndrome in Ethiopia: a case report.
Autorzy:
Belay KE; Department of Internal Medicine, Endocrinology and Metabolism Unit, Bahirdar University, Bahirdar, Ethiopia.
Ayalew BL; Department of Internal Medicine, Endocrinology and Metabolism Unit, Addis Ababa University, Addis Ababa, Ethiopia.
Amogne MT; Department of Internal Medicine, Endocrinology and Metabolism Unit, Addis Ababa University, Addis Ababa, Ethiopia.
Alemneh TA; Department of Internal Medicine, Endocrinology and Metabolism Unit, Addis Ababa University, Addis Ababa, Ethiopia.
Geletew TK; Department of Internal Medicine, Endocrinology and Metabolism Unit, Addis Ababa University, Addis Ababa, Ethiopia. .
Pokaż więcej
Źródło:
Journal of medical case reports [J Med Case Rep] 2023 Dec 25; Vol. 17 (1), pp. 530. Date of Electronic Publication: 2023 Dec 25.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Cognitive Dysfunction*
Hypogonadism*/diagnosis
Prader-Willi Syndrome*/complications
Prader-Willi Syndrome*/diagnosis
Prader-Willi Syndrome*/genetics
Adolescent ; Humans ; Male ; Ethiopia ; Weight Gain
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analysis of Hyperphagia Questionnaire for Clinical Trials (HQ-CT) scores in typically developing individuals and those with Prader-Willi syndrome.
Autorzy:
Matesevac L; Foundation for Prader-Willi Research, Covina, CA, USA.
Vrana-Diaz CJ; Foundation for Prader-Willi Research, Covina, CA, USA.
Bohonowych JE; Foundation for Prader-Willi Research, Covina, CA, USA.
Schwartz L; Foundation for Prader-Willi Research, Covina, CA, USA.; Department of Rehabilitation Medicine, University of Washington, Seattle, WA, USA.
Strong TV; Foundation for Prader-Willi Research, Covina, CA, USA. .
Pokaż więcej
Źródło:
Scientific reports [Sci Rep] 2023 Nov 23; Vol. 13 (1), pp. 20573. Date of Electronic Publication: 2023 Nov 23.
Typ publikacji:
Journal Article
MeSH Terms:
Prader-Willi Syndrome*
Adult ; Humans ; Food ; Hyperphagia/epidemiology ; Surveys and Questionnaires ; Tomography, X-Ray Computed ; Clinical Trials as Topic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.
Autorzy:
Paparella A; Department of Biosciences, Biotechnology and Environment, University of Bari 'Aldo Moro', 70125 Bari, Italy.
L'Abbate A; Institute of Biomembranes, Bioenergetics, and Molecular Biotechnology (IBIOM), 70125 Bari, Italy.
Palmisano D; Department of Biosciences, Biotechnology and Environment, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Chirico G; Department of Biosciences, Biotechnology and Environment, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Catacchio CR; Department of Biosciences, Biotechnology and Environment, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Ventura M; Department of Biosciences, Biotechnology and Environment, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute (HHMI), University of Washington, Seattle, WA 98195, USA.
Maggiolini FAM; Department of Biosciences, Biotechnology and Environment, University of Bari 'Aldo Moro', 70125 Bari, Italy.; Research Centre for Viticulture and Enology, Council for Agricultural Research and Economics (CREA), 70010 Bari, Italy.
Antonacci F; Department of Biosciences, Biotechnology and Environment, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Oct 31; Vol. 24 (21). Date of Electronic Publication: 2023 Oct 31.
Typ publikacji:
Journal Article
MeSH Terms:
Prader-Willi Syndrome*/genetics
Autistic Disorder*/genetics
Animals ; Humans ; DNA Copy Number Variations/genetics ; Primates/genetics ; Segmental Duplications, Genomic/genetics ; Chromosomes, Human, Pair 15/genetics ; Gene Duplication
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome.
Autorzy:
Ciancia S; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, Netherlands.; Post-Graduate School of Pediatrics, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
Goedegebuure WJ; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, Netherlands.
Grootjen LN; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, Netherlands.
Hokken-Koelega ACS; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, Netherlands.
Kerkhof GF; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, Netherlands.
van der Kaay DCM; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, Netherlands. .
Pokaż więcej
Źródło:
European journal of pediatrics [Eur J Pediatr] 2023 Jun; Vol. 182 (6), pp. 2607-2614. Date of Electronic Publication: 2023 Mar 22.
Typ publikacji:
Journal Article
MeSH Terms:
Prader-Willi Syndrome*/diagnosis
Prader-Willi Syndrome*/genetics
Silver-Russell Syndrome*/diagnosis
Silver-Russell Syndrome*/genetics
Humans ; Child ; Infant ; Child, Preschool ; Adolescent ; Family ; Computers ; Chromosomes, Human, Pair 15/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
N-Acetylglucosamine Kinase-Small Nuclear Ribonucleoprotein Polypeptide N Interaction Promotes Axodendritic Branching in Neurons via Dynein-Mediated Microtubule Transport.
Autorzy:
Timalsina B; Department of Anatomy, Dongguk University College of Medicine, Gyeongju 38066, Republic of Korea.
Choi HJ; Department of Anatomy, Dongguk University College of Medicine, Gyeongju 38066, Republic of Korea.
Moon IS; Department of Anatomy, Dongguk University College of Medicine, Gyeongju 38066, Republic of Korea.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jul 19; Vol. 24 (14). Date of Electronic Publication: 2023 Jul 19.
Typ publikacji:
Journal Article
MeSH Terms:
Prader-Willi Syndrome*
Ribonucleoproteins, Small Nuclear*/genetics
Humans ; Autoantigens/metabolism ; Chromosomes, Human, Pair 15/metabolism ; Cytoplasmic Dyneins/metabolism ; Dyneins/metabolism ; Microtubules/metabolism ; Neurons/metabolism ; Peptides/metabolism ; snRNP Core Proteins
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Arduous Path to Drug Approval for the Management of Prader-Willi Syndrome: A Historical Perspective and Call to Action.
Autorzy:
Singh D; Department of Psychiatry, Maimonides Medical Center, Brooklyn, New York, NY 11219, USA.
Miller JL; Department of Pediatrics, Division of Pediatric Endocrinology, University of Florida, Gainesville, FL 32611, USA.
Wassman ER; TREND Community, Philadelphia, PA 19103, USA.
Butler MG; Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Foley Shenk A; TREND Community, Philadelphia, PA 19103, USA.
Converse M; TREND Community, Philadelphia, PA 19103, USA.
Picone M; TREND Community, Philadelphia, PA 19103, USA.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jul 18; Vol. 24 (14). Date of Electronic Publication: 2023 Jul 18.
Typ publikacji:
Editorial
MeSH Terms:
Prader-Willi Syndrome*/drug therapy
Prader-Willi Syndrome*/genetics
Humans ; Genomic Imprinting ; Drug Approval ; Chromosomes ; Chromosomes, Human, Pair 15/genetics
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Systemic immune profile in Prader-Willi syndrome: elevated matrix metalloproteinase and myeloperoxidase and reduced macrophage inhibitory factor.
Autorzy:
Hope S; K.G. Jebsen Centre for Neurodevelopmental disorders, Institute of Clinical Medicine, University of Oslo, Oslo, Norway. .; Department of Neurohabilitation, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway. .; Nevsom, Department of Rare Diagnoses and Disabilities, Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway. .
Nærland T; K.G. Jebsen Centre for Neurodevelopmental disorders, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Nevsom, Department of Rare Diagnoses and Disabilities, Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Olav Kolset S; Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.
Ueland T; Research Institute of Internal Medicine, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Rikshospitalet, Oslo, Norway.; K.G. Jebsen, TREC, University of Tromsø, Tromsø, Norway.
Andreassen OA; K.G. Jebsen Centre for Neurodevelopmental disorders, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; NORMENT: Norwegian Centre for Mental Disorders Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Nordstrøm M; Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.; Frambu Resource Centre for Rare Disorders, Siggerud, Norway.; Unit for Rare Neuromuscular Disorders, Movement, Muscle and Neurodegeneration, Department of Neurology, Oslo University Hospital, Oslo, Norway.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 10; Vol. 18 (1), pp. 185. Date of Electronic Publication: 2023 Jul 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Prader-Willi Syndrome*
Cardiovascular Diseases*
Humans ; Peroxidase ; Matrix Metalloproteinase 9 ; Cross-Sectional Studies ; Macrophages
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Defects in early synaptic formation and neuronal function in Prader-Willi syndrome.
Autorzy:
Soeda S; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, 1-1-1 Noji Higashi, Kusatsu, Shiga, 525-8577, Japan. .
Ito D; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, 1-1-1 Noji Higashi, Kusatsu, Shiga, 525-8577, Japan.
Ogushi T; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, 1-1-1 Noji Higashi, Kusatsu, Shiga, 525-8577, Japan.
Sano Y; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, 1-1-1 Noji Higashi, Kusatsu, Shiga, 525-8577, Japan.
Negoro R; Laboratory of Molecular Pharmacokinetics, College of Pharmaceutical Sciences, Ritsumeikan University, Kusatsu, Shiga, 525-8577, Japan.
Fujita T; Laboratory of Molecular Pharmacokinetics, College of Pharmaceutical Sciences, Ritsumeikan University, Kusatsu, Shiga, 525-8577, Japan.
Saito R; Mitsubishi Tanabe Pharma Corporation, Kamoshida, Aoba, Yokohama, 227-0033, Japan.
Taniura H; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, 1-1-1 Noji Higashi, Kusatsu, Shiga, 525-8577, Japan.
Pokaż więcej
Źródło:
Scientific reports [Sci Rep] 2023 Jul 25; Vol. 13 (1), pp. 12053. Date of Electronic Publication: 2023 Jul 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Prader-Willi Syndrome*/genetics
Autism Spectrum Disorder*
Neural Stem Cells*
Humans ; Tubulin/genetics ; Neurons ; Chromosomes, Human, Pair 15 ; Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.
Autorzy:
Baker EK; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia.; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; School of Psychology and Public Health, La Trobe University, Bundoora, VIC, Australia.
Arora S; Centre for Health Economics Research and Evaluation, University of Technology Sydney, Broadway, NSW, Australia.
Amor DJ; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.; Neurodisability and Rehabilitation, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Date P; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia.; Olga Tennison Autism Research Centre, La Trobe University, Melbourne, VIC, Australia.
Cross M; Foundation for Angelman Syndrome Therapeutics (FAST), Salisbury, QLD, Australia.
O'Brien J; Prader-Willi Syndrome Australia Ltd, Melbourne, VIC, Australia.
Simons C; Foundation for Angelman Syndrome Therapeutics (FAST), Salisbury, QLD, Australia.
Rogers C; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
Goodall S; Centre for Health Economics Research and Evaluation, University of Technology Sydney, Broadway, NSW, Australia.
Slee J; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
Cahir C; Dup15q Australia Ltd, Melbourne, VIC, Australia.
Godler DE; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia. .; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia. .
Pokaż więcej
Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2023 Apr; Vol. 53 (4), pp. 1682-1692. Date of Electronic Publication: 2021 Jul 22.
Typ publikacji:
Journal Article
MeSH Terms:
Prader-Willi Syndrome*/diagnosis
Prader-Willi Syndrome*/genetics
Prader-Willi Syndrome*/complications
Autism Spectrum Disorder*/complications
Fragile X Syndrome*/diagnosis
Fragile X Syndrome*/genetics
Fragile X Syndrome*/complications
Angelman Syndrome*/diagnosis
Angelman Syndrome*/genetics
Child ; Humans ; Chromosomes, Human, Pair 15/genetics ; Australia ; Chromosome Duplication
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Interference effect of food and emotional stimuli in Stroop-like tasks for children and adults with Prader-Willi Syndrome.
Autorzy:
Camblats AM; laboratoire de Psychologie EA4139, Université de Bordeaux, Bordeaux, France.
Mathey S; laboratoire de Psychologie EA4139, Université de Bordeaux, Bordeaux, France.
Robert C; laboratoire de Psychologie EA4139, Université de Bordeaux, Bordeaux, France.
Estival S; laboratoire de Psychologie EA4139, Université de Bordeaux, Bordeaux, France.
Chevalère J; Laboratoire de Psychologie Sociale et Cognitive (LAPSCO), UMR 6024, CNRS & Université Clermont-Auvergne, Clermont-Ferrand, France.
Maire J; Unité de recherche CERES, Institut Catholique de Toulouse, Toulouse, France.
Tauber M; Centre de Référence du Syndrome de Prader-Willi, CHU Toulouse, Toulouse, France.
Laurier V; Centre de Référence des maladies rares PRADORT pour le Syndrome de Prader-Willi et autres et autres Obésités Rares avec TCA, AP-HP Hôpital Marin, Hendaye, France.
Tricot J; Centre de Référence des maladies rares PRADORT pour le Syndrome de Prader-Willi et autres et autres Obésités Rares avec TCA, AP-HP Hôpital Marin, Hendaye, France.
Mourre F; Centre de Référence des maladies rares PRADORT pour le Syndrome de Prader-Willi et autres et autres Obésités Rares avec TCA, AP-HP Hôpital Marin, Hendaye, France.
Postal V; laboratoire de Psychologie EA4139, Université de Bordeaux, Bordeaux, France.
Pokaż więcej
Źródło:
Journal of clinical and experimental neuropsychology [J Clin Exp Neuropsychol] 2023 Mar; Vol. 45 (2), pp. 132-147. Date of Electronic Publication: 2023 Apr 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Prader-Willi Syndrome*/complications
Prader-Willi Syndrome*/epidemiology
Prader-Willi Syndrome*/psychology
Humans ; Adult ; Child ; Adolescent ; Young Adult ; Middle Aged ; Emotions ; Stroop Test
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Italian registry for patients with Prader-Willi syndrome.
Autorzy:
Salvatore M; National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy. .
Torreri P; National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy.
Grugni G; Division of Auxology, Istituto Auxologico Italiano IRCCS, Piancavallo di Oggebbio, VB, Italy.
Rocchetti A; National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy.
Maghnie M; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy.
Patti G; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy.
Crinò A; Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario 'Agostino Gemelli' IRCCS, Rome, Italy.
Elia M; Oasi Research Institute - IRCCS, Troina, EN, Italy.
Greco D; Oasi Research Institute - IRCCS, Troina, EN, Italy.
Romano C; Oasi Research Institute - IRCCS, Troina, EN, Italy.; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
Franzese A; AOU Federico II, Naples, Italy.
Mozzillo E; AOU Federico II, Naples, Italy.
Colao A; AOU Federico II, Naples, Italy.
Pugliese G; AOU Federico II, Naples, Italy.
Pagotto U; Unità di Endocrinologia e Prevenzione e Cura del Diabete, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum Università di Bologna, Bologna, Italy.
Lo Preiato V; Unità di Endocrinologia e Prevenzione e Cura del Diabete, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum Università di Bologna, Bologna, Italy.
Scarano E; Rare Diseases Unit, Department of Pediatrics, IRCCS AOU Sant'Orsola, Bologna, Italy.
Schiavariello C; Rare Diseases Unit, Department of Pediatrics, IRCCS AOU Sant'Orsola, Bologna, Italy.
Tornese G; IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
Fintini D; IRCCS Bambino Gesù Paediatric Hospital, Rome, Italy.
Bocchini S; IRCCS Bambino Gesù Paediatric Hospital, Rome, Italy.
Osimani S; IRCCS Ospedale San Raffaele, Milan, Italy.
De Sanctis L; AOU Città della Salute e della Scienza/Ospedale Infantile Regina Margherita and Dipartimento di Scienze di Sanità Pubblica e Pediatriche, Università di Torino, Turin, Italy.
Sacco M; IRCCS Casa Sollievo della Sofferenza - San Giovanni Rotondo, Foggia, Italy.
Rutigliano I; IRCCS Casa Sollievo della Sofferenza - San Giovanni Rotondo, Foggia, Italy.
Delvecchio M; AOU Consorziale Policlinico Giovanni XXIII, Bari, Italy.
Faienza MF; AOU Consorziale Policlinico Giovanni XXIII, Bari, Italy.
Wasniewska M; AOU Policlinico 'G. Martino', Messina, Italy.
Corica D; AOU Policlinico 'G. Martino', Messina, Italy.
Stagi S; Azienda Ospedaliera Universitaria Meyer, Florence, Italy.
Guazzarotti L; Azienda Ospedale Università Padova (LG), Padua, Italy.; Dipartimento di Medicina (DIMED), University of Padua (PM, FD), Padua, Italy.
Maffei P; Azienda Ospedale Università Padova (LG), Padua, Italy.; Dipartimento di Medicina (DIMED), University of Padua (PM, FD), Padua, Italy.
Dassie F; Azienda Ospedale Università Padova (LG), Padua, Italy.; Dipartimento di Medicina (DIMED), University of Padua (PM, FD), Padua, Italy.
Taruscio D; National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Feb 15; Vol. 18 (1), pp. 28. Date of Electronic Publication: 2023 Feb 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Prader-Willi Syndrome*/genetics
Prader-Willi Syndrome*/diagnosis
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Male ; Chromosomes, Human, Pair 15 ; Delayed Diagnosis ; Italy/epidemiology ; Quality of Life ; Registries
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A supervised learning method for classifying methylation disorders.
Autorzy:
Walsh, Jesse R. (AUTHOR)
Sun, Guangchao (AUTHOR)
Balan, Jagadheshwar (AUTHOR)
Hardcastle, Jayson (AUTHOR)
Vollenweider, Jason (AUTHOR)
Jerde, Calvin (AUTHOR)
Rumilla, Kandelaria (AUTHOR)
Koellner, Christy (AUTHOR)
Koleilat, Alaa (AUTHOR)
Hasadsri, Linda (AUTHOR)
Kipp, Benjamin (AUTHOR)
Jenkinson, Garrett (AUTHOR)
Klee, Eric (AUTHOR)
Pokaż więcej
Źródło:
BMC Bioinformatics. 2/12/2024, Vol. 25 Issue 1, p1-15. 15p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Evaluation of Autonomic Nervous System Dysfunction in Childhood Obesity and Prader-Willi Syndrome.
Autorzy:
Richer LP; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Tan Q; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Butler MG; Departments of Psychiatry & Behavioral Sciences and Pediatrics, Kansas University Medical Center, Kansas City, KS 66160, USA.
Avedzi HM; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 2R3, Canada.
DeLorey DS; Faculty of Kinesiology, Sport, and Recreation, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Peng Y; JC School of Public Health, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong 999077, China.
Tun HM; JC School of Public Health, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong 999077, China.
Sharma AM; Department of Medicine, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Ainsley S; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Orsso CE; Department of Agricultural Food & Nutritional Science, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Triador L; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Freemark M; Division of Pediatric Endocrinology, Duke University Medical Center, Durham, NC 27705, USA.
Haqq AM; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 2R3, Canada.; Division of Pediatric Endocrinology, Duke University Medical Center, Durham, NC 27705, USA.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Apr 28; Vol. 24 (9). Date of Electronic Publication: 2023 Apr 28.
Typ publikacji:
Journal Article
MeSH Terms:
Prader-Willi Syndrome*/complications
Pediatric Obesity*/complications
Male ; Female ; Humans ; Child ; Case-Control Studies ; Body Mass Index ; Autonomic Nervous System
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones.
Autorzy:
Koppes EA; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Johnson MA; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Moresco JJ; Department of Molecular Medicine and Neurobiology, The Scripps Research Institute, La Jolla, California, United States of America.
Luppi P; Department of Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America.
Lewis DW; Department of Human Genetics, University of Pittsburgh School of Public Health, Pittsburgh, Pennsylvania, United States of America.
Stolz DB; Department of Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America.
Diedrich JK; Department of Molecular Medicine and Neurobiology, The Scripps Research Institute, La Jolla, California, United States of America.
Yates JR 3rd; Department of Molecular Medicine and Neurobiology, The Scripps Research Institute, La Jolla, California, United States of America.
Wek RC; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana, United States of America.
Watkins SC; Department of Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America.
Gollin SM; Department of Human Genetics, University of Pittsburgh School of Public Health, Pittsburgh, Pennsylvania, United States of America.
Park HJ; Department of Human Genetics, University of Pittsburgh School of Public Health, Pittsburgh, Pennsylvania, United States of America.
Drain P; Department of Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America.
Nicholls RD; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Pokaż więcej
Źródło:
PLoS genetics [PLoS Genet] 2023 Apr 17; Vol. 19 (4), pp. e1010710. Date of Electronic Publication: 2023 Apr 17 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Prader-Willi Syndrome*/genetics
Prader-Willi Syndrome*/metabolism
Mice ; Animals ; Insulin Secretion/genetics ; Endoplasmic Reticulum Chaperone BiP ; Down-Regulation ; Proteomics ; Molecular Chaperones/genetics ; Molecular Chaperones/metabolism ; Insulin/genetics ; Insulin/metabolism ; Endoplasmic Reticulum/genetics ; Endoplasmic Reticulum/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Effects of textual prompting and constant time delay on social communication skills of young adults with Prader Willi syndrome during online socialisation activities.
Autorzy:
Vascelli L; Department of Social Inclusion, TICE Live and Learn, Piacenza, Italy.
Berardo F; Department of Social Inclusion, TICE Live and Learn, Piacenza, Italy.
Iacomini S; Department of Social Inclusion, TICE Live and Learn, Piacenza, Italy.
Scorza M; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Cavallini F; Department of Social Inclusion, TICE Live and Learn, Piacenza, Italy.; Department of Humanistic, Social Sciences and Cultural Enterprises, University of Parma, Parma, Italy.
Pokaż więcej
Źródło:
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2023 Mar; Vol. 36 (2), pp. 259-269. Date of Electronic Publication: 2022 Nov 14.
Typ publikacji:
Journal Article
MeSH Terms:
Prader-Willi Syndrome*
Intellectual Disability*
Adolescent ; Humans ; Young Adult ; Aged ; Socialization ; Social Isolation ; Communication
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.
Autorzy:
Butler MG; Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Blvd., MS 4015, Kansas City, MO 66160, USA.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 21; Vol. 24 (5). Date of Electronic Publication: 2023 Feb 21.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Prader-Willi Syndrome*/genetics
Humans ; Carrier Proteins/genetics ; Chromosomes ; Chromosomes, Human, Pair 15 ; Magnesium
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Effects of early recombinant human growth hormone treatment in young Chinese children with Prader-Willi syndrome.
Autorzy:
Gao Y; The Children's Hospital of Zhejiang University School of Medicine, No. 3333 Binsheng Road, Hangzhou, 310051, China.
Yang LL; The Children's Hospital of Zhejiang University School of Medicine, No. 3333 Binsheng Road, Hangzhou, 310051, China.
Dai YL; The Children's Hospital of Zhejiang University School of Medicine, No. 3333 Binsheng Road, Hangzhou, 310051, China.
Shen Z; The Children's Hospital of Zhejiang University School of Medicine, No. 3333 Binsheng Road, Hangzhou, 310051, China.
Zhou Q; The Children's Hospital of Zhejiang University School of Medicine, No. 3333 Binsheng Road, Hangzhou, 310051, China. .; Hangzhou children's Hospital, No. 195 Wenhui Road, Hangzhou, 310000, China. .
Zou CC; The Children's Hospital of Zhejiang University School of Medicine, No. 3333 Binsheng Road, Hangzhou, 310051, China. .
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Feb 07; Vol. 18 (1), pp. 25. Date of Electronic Publication: 2023 Feb 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Human Growth Hormone*/therapeutic use
Prader-Willi Syndrome*/drug therapy
Child, Preschool ; Humans ; Infant ; Male ; East Asian People ; Insulin-Like Growth Factor I/metabolism ; Recombinant Proteins/therapeutic use ; Retrospective Studies ; Female
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 7189

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies