المؤلفون: Roy SM; Cook Children's Medical Center, Fort Worth, Texas, USA., Rafferty D; Cook Children's Medical Center, Fort Worth, Texas, USA., Trejo A; Cook Children's Medical Center, Fort Worth, Texas, USA., Hamilton L; Cook Children's Medical Center, Fort Worth, Texas, USA., Bohonowych JE; Foundation for Prader-Willi Research, California, USA., Strong TV; Foundation for Prader-Willi Research, California, USA., Ambartsumyan L; Seattle Children's Hospital, Washington, USA., Cantu S; Cook Children's Medical Center, Fort Worth, Texas, USA., Scheimann A; The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Texas Children's Hospital, Houston, Texas, USA., Duis J; Children's Hospital Colorado, Aurora, Colorado, USA.; SequenceMD, Denver, Colorado, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63546. Date of Electronic Publication: 2024 Feb 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/complications , Prader-Willi Syndrome*/epidemiology , Registries* , Intubation, Gastrointestinal*/adverse effects , Enteral Nutrition*/adverse effects, Humans ; Female ; Male ; Child, Preschool ; Child ; Infant ; Adolescent ; Gastrostomy/adverse effects ; Adult ; Young Adult

المؤلفون: Wang SE; Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven CT 06520, USA., Xiong Y; Mount Sinai Center for Therapeutics Discovery, Departments of Pharmacological Sciences, Oncological Sciences and Neuroscience, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Jang MA; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, South Korea., Park KS; Mount Sinai Center for Therapeutics Discovery, Departments of Pharmacological Sciences, Oncological Sciences and Neuroscience, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Donahue M; Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven CT 06520, USA., Velez J; Mount Sinai Center for Therapeutics Discovery, Departments of Pharmacological Sciences, Oncological Sciences and Neuroscience, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Jin J; Mount Sinai Center for Therapeutics Discovery, Departments of Pharmacological Sciences, Oncological Sciences and Neuroscience, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address: jian.jin@mssm.edu., Jiang YH; Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven CT 06520, USA; Department of Neuroscience, Yale University School of Medicine, 333 Cedar Street, New Haven CT 06520, USA; Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, New Haven CT 06520, USA. Electronic address: yong-hui.jiang@yale.edu.

المصدر: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 Aug 07; Vol. 32 (8), pp. 2662-2675. Date of Electronic Publication: 2024 May 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/drug therapy , Prader-Willi Syndrome*/genetics , Epigenesis, Genetic*/drug effects , Disease Models, Animal*, Humans ; Animals ; Mice ; Administration, Oral ; Histocompatibility Antigens/genetics ; Histocompatibility Antigens/metabolism ; Brain/metabolism ; Brain/drug effects ; Histone-Lysine N-Methyltransferase

المؤلفون: Trueba-Timmermans DJ; Dutch Reference Center for Prader-Willi Syndrome, 3015 CN Rotterdam, The Netherlands.; Dutch Growth Research Foundation, 3016 AH Rotterdam, The Netherlands.; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands., Grootjen LN; Dutch Reference Center for Prader-Willi Syndrome, 3015 CN Rotterdam, The Netherlands.; Dutch Growth Research Foundation, 3016 AH Rotterdam, The Netherlands.; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands., Kerkhof GF; Dutch Reference Center for Prader-Willi Syndrome, 3015 CN Rotterdam, The Netherlands.; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands., Rings EHHM; Department of Pediatrics, Erasmus University Medical Center-Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands., Hokken-Koelega ACS; Dutch Reference Center for Prader-Willi Syndrome, 3015 CN Rotterdam, The Netherlands.; Dutch Growth Research Foundation, 3016 AH Rotterdam, The Netherlands.; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2024 Aug 05; Vol. 191 (2), pp. 126-133.

نوع المنشور: Journal Article; Randomized Controlled Trial

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/drug therapy , Prader-Willi Syndrome*/blood , Human Growth Hormone*/blood , Human Growth Hormone*/administration & dosage, Humans ; Child ; Male ; Female ; Child, Preschool ; Longitudinal Studies ; Triiodothyronine/blood ; Thyroxine/blood ; Thyroxine/therapeutic use ; Thyroid Hormones/blood ; Thyrotropin/blood

المؤلفون: Rodrigo ML; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Johns Hopkins School of Medicine, Baltimore, Maryland, USA., Heubi C; Division of Pediatric Otolaryngology - Head & Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Otolaryngology - Head & Neck Surgery, University of Cincinnati Medical Center, Cincinnati, Ohio, USA., Chiou E; Division of Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Scheimann A; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63634. Date of Electronic Publication: 2024 Apr 15.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/complications , Prader-Willi Syndrome*/diagnosis , Prader-Willi Syndrome*/genetics , Prader-Willi Syndrome*/pathology , Muscle Hypotonia*/genetics , Muscle Hypotonia*/pathology , Larynx*/abnormalities , Larynx*/pathology , Larynx*/physiopathology, Humans ; Female ; Male ; Infant ; Child, Preschool ; Deglutition Disorders/etiology ; Deglutition Disorders/diagnosis ; Congenital Abnormalities

SCR Disease Name: Laryngeal cleft

المؤلفون: Tan YT; Department of Pediatrics, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia., Azanan MS; Department of Pediatrics, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia., Hng SY; Pediatric Respiratory Unit, Department of Pediatrics, University Malaya, Kuala Lumpur, Malaysia., Eg KP; Pediatric Respiratory Unit, Department of Pediatrics, University Malaya, Kuala Lumpur, Malaysia., Jalaludin MY; Pediatric Endocrinology Unit, Department of Pediatrics, University Malaya, Kuala Lumpur, Malaysia., Thong MK; Pediatric Genetics and Metabolic Unit, Department of Pediatrics, University Malaya, Kuala Lumpur, Malaysia., Tae SK; Pediatric Genetics and Metabolic Unit, Department of Pediatrics, University Malaya, Kuala Lumpur, Malaysia., Samingan N; Pediatric Respiratory Unit, Department of Pediatrics, University Malaya, Kuala Lumpur, Malaysia., Anuar A; Pediatric Endocrinology Unit, Department of Pediatrics, University Malaya, Kuala Lumpur, Malaysia., Nathan AM; Pediatric Respiratory Unit, Department of Pediatrics, University Malaya, Kuala Lumpur, Malaysia.

المصدر: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine [J Clin Sleep Med] 2024 Aug 01; Vol. 20 (8), pp. 1291-1299.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Academy of Sleep Medicine Country of Publication: United States NLM ID: 101231977 Publication Model: Print Cited Medium: Internet ISSN: 1550-9397 (Electronic) Linking ISSN: 15509389 NLM ISO Abbreviation: J Clin Sleep Med Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/drug therapy , Prader-Willi Syndrome*/complications , Sleep Apnea Syndromes*/drug therapy , Human Growth Hormone*/therapeutic use , Polysomnography*, Humans ; Retrospective Studies ; Male ; Female ; Malaysia/epidemiology ; Child ; Child, Preschool ; Insulin-Like Growth Factor I ; Treatment Outcome ; Infant

المؤلفون: Alzaid M; Division of Respiratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Pediatric Pulmonary Department, Children Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Sunkonkit K; Division of Respiratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Division of Pulmonary and Critical Care Medicine, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand., Massicotte C; Division of Respiratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Canada., Otsubo H; Neurophysiology Lab Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Canada., Amin R; Division of Respiratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Canada., Al-Saleh S; Division of Respiratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Department of Pediatrics, King Abdullah Bin AbdulAziz University Hospital, Riyadh, Saudi Arabia.

المصدر: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine [J Clin Sleep Med] 2024 Aug 01; Vol. 20 (8), pp. 1227-1232.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Academy of Sleep Medicine Country of Publication: United States NLM ID: 101231977 Publication Model: Print Cited Medium: Internet ISSN: 1550-9397 (Electronic) Linking ISSN: 15509389 NLM ISO Abbreviation: J Clin Sleep Med Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/physiopathology , Prader-Willi Syndrome*/complications , Electroencephalography*/methods , Polysomnography*/methods, Humans ; Male ; Female ; Retrospective Studies ; Child, Preschool ; Infant ; Sleep Apnea Syndromes/physiopathology ; Sleep Apnea Syndromes/diagnosis

المؤلفون: Cuk M; Department of Pediatrics, School of Medicine, University Hospital Centre Zagreb, 10000 Zagreb, Croatia., Unal B; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Bevanda A; Zagreb County Health Center, 10000 Zagreb, Croatia., Hayes CP; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Walker M; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Abraamyan F; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Beluzic R; Division of Molecular Medicine, Rudjer Boskovic Institute, 10000 Zagreb, Croatia., Gornik KC; Department of Laboratory Diagnostics, Division of Cytogenetics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia., Ozretic D; Department for Diagnostic and Interventional Neuroradiology, University Hospital Centre Zagreb, 10000 Zagreb, Croatia., Prutki M; Department of Radiology, School of Medicine, University Hospital Center Zagreb, 10000 Zagreb, Croatia., Nie Q; Precision Medicine Laboratory, Medical College of Wisconsin, Milwaukee, WI 53226, USA., Reddi HV; Precision Medicine Laboratory, Medical College of Wisconsin, Milwaukee, WI 53226, USA., Ghazani AA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.; Harvard Medical School, Boston, MA 02115, USA.

المصدر: Genes [Genes (Basel)] 2024 Jul 19; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 19.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/genetics , Prader-Willi Syndrome*/diagnosis , Prader-Willi Syndrome*/pathology , Calpain*/genetics , Chromosomes, Human, Pair 15*/genetics , Uniparental Disomy*/genetics, Humans ; Female ; Whole Genome Sequencing ; Male ; Muscle Proteins

المؤلفون: Wędrychowicz AM; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Lesser Poland, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Doleżal-Ołtarzewska K; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Zygmunt-Górska A; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Kalicka-Kasperczyk AU; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Lesser Poland, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Tyrawa K; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Wojcik M; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Lesser Poland, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Janus D; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Lesser Poland, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Kot A; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Lecka-Ambroziak A; Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Masovian, Poland.; Endocrinology Outpatient Clinic, Institute of Mother and Child, Warsaw, Masovian, Poland., Petriczko E; Department of Pediatrics, Endocrinology, Diabetes, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, West Pomeranian, Poland., Wielopolska J; Department of Pediatrics, Endocrinology, Diabetes, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, West Pomeranian, Poland., Starzyk J; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Lesser Poland, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Jun 27; Vol. 15, pp. 1406931. Date of Electronic Publication: 2024 Jun 27 (Print Publication: 2024).

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/drug therapy , Prader-Willi Syndrome*/blood , Prader-Willi Syndrome*/complications , Hypothalamo-Hypophyseal System*/drug effects , Hypothalamo-Hypophyseal System*/metabolism , Pituitary-Adrenal System*/drug effects , Pituitary-Adrenal System*/metabolism , Hydrocortisone*/blood, Humans ; Female ; Male ; Child ; Child, Preschool ; Adolescent ; Adrenal Insufficiency/diagnosis ; Adrenal Insufficiency/blood ; Adrenal Insufficiency/drug therapy ; Adrenal Insufficiency/epidemiology ; Infant ; Human Growth Hormone/blood ; Adrenocorticotropic Hormone/blood ; Adrenocorticotropic Hormone/administration & dosage ; Glucagon/blood

المؤلفون: Oskarsson A; Department of Medicine, St Göran Hospital, Stockholm, Sweden., Höybye C; Department of Endocrinology and Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden. Electronic address: charlotte.hoybye@regionstockholm.se.

المصدر: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society [Growth Horm IGF Res] 2024 Jun; Vol. 76, pp. 101593. Date of Electronic Publication: 2024 Apr 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Scotland NLM ID: 9814320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2238 (Electronic) Linking ISSN: 10966374 NLM ISO Abbreviation: Growth Horm IGF Res Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/drug therapy , Prader-Willi Syndrome*/blood , Prostate-Specific Antigen*/blood , Testosterone*/analogs & derivatives , Testosterone*/administration & dosage , Testosterone*/adverse effects , Testosterone*/therapeutic use , Hypogonadism*/drug therapy , Hormone Replacement Therapy*, Humans ; Male ; Retrospective Studies ; Middle Aged ; Adult ; Follow-Up Studies

المؤلفون: Kishimura U; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, Shiga, 525-8577, Japan., Soeda S; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, Shiga, 525-8577, Japan. Electronic address: soeda05@fc.ritsumei.ac.jp., Ito D; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, Shiga, 525-8577, Japan., Ueta Y; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, Shiga, 525-8577, Japan., Harada M; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, Shiga, 525-8577, Japan., Tanaka M; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, Shiga, 525-8577, Japan., Taniura H; Laboratory of Neurochemistry, College of Pharmaceutical Sciences, Ritsumeikan University, Shiga, 525-8577, Japan.

المصدر: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2024 Aug 20; Vol. 721, pp. 150124. Date of Electronic Publication: 2024 May 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/pathology , Prader-Willi Syndrome*/metabolism , Prader-Willi Syndrome*/genetics , Adipocytes*/metabolism , Adipocytes*/pathology , Induced Pluripotent Stem Cells*/metabolism , Induced Pluripotent Stem Cells*/pathology, Humans ; Glucose/metabolism ; Chromosomes, Human, Pair 15/genetics ; Chromosomes, Human, Pair 15/metabolism ; Fatty Acid-Binding Proteins/metabolism ; Fatty Acid-Binding Proteins/genetics ; Cell Line ; DNA Methylation ; Gene Deletion ; Lipid Metabolism ; Insulin/metabolism