المؤلفون: Gajewska J; Department of Screening Tests and Metabolic Diagnostics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Chełchowska M; Department of Screening Tests and Metabolic Diagnostics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Szamotulska K; Department of Epidemiology and Biostatistics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Klemarczyk W; Department of Nutrition, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Strucińska M; Department of Nutrition, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Ambroszkiewicz J; Department of Screening Tests and Metabolic Diagnostics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 23; Vol. 25 (17). Date of Electronic Publication: 2024 Aug 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/metabolism , Prader-Willi Syndrome*/drug therapy , Prader-Willi Syndrome*/blood , Bone and Bones*/metabolism , Bone and Bones*/drug effects , Biomarkers*/blood, Humans ; Child ; Male ; Female ; Pilot Projects ; Human Growth Hormone/blood ; Child, Preschool ; Osteocalcin/blood ; Osteocalcin/metabolism ; Adolescent ; Insulin-Like Growth Factor I/metabolism ; Bone Density/drug effects ; Alkaline Phosphatase/blood ; Case-Control Studies

المؤلفون: Barrios V; Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Research Institute 'La Princesa', Madrid 28009, Spain.; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid 28029, Spain., Martín-Rivada Á; Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Research Institute 'La Princesa', Madrid 28009, Spain., Martos-Moreno GÁ; Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Research Institute 'La Princesa', Madrid 28009, Spain.; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid 28029, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid 28029, Spain., Canelles S; Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Research Institute 'La Princesa', Madrid 28009, Spain.; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid 28029, Spain., Moreno-Macián F; Pediatric Endocrinology Unit, Hospital Universitario y Politécnico La Fe, Valencia 46009, Spain., De Mingo-Alemany C; Pediatric Endocrinology Unit, Hospital Universitario y Politécnico La Fe, Valencia 46009, Spain., Delvecchio M; Department of Biotechnology and Applied Sciences, University of L'Aquila, Aquila 67100, Italy., Pajno R; Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Milan 20132, Italy., Fintini D; Ospedale Pediatrico Bambino Gesù, Prader-Willi Reference Center, Endocrinology and Diabetology Unit, IRCCS, Rome 00165, Italy., Chowen JA; Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Research Institute 'La Princesa', Madrid 28009, Spain.; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid 28029, Spain.; IMDEA, Food Institute, CEIUAM+CSI, Cantoblanco, Madrid 28049, Spain., Argente J; Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Research Institute 'La Princesa', Madrid 28009, Spain.; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid 28029, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid 28029, Spain.; IMDEA, Food Institute, CEIUAM+CSI, Cantoblanco, Madrid 28049, Spain.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Aug 13; Vol. 109 (9), pp. e1776-e1786.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Insulin-Like Growth Factor I*/metabolism , Insulin-Like Growth Factor I*/analysis , Prader-Willi Syndrome*/metabolism , Prader-Willi Syndrome*/blood , Prader-Willi Syndrome*/drug therapy , Pregnancy-Associated Plasma Protein-A*/metabolism , Pregnancy-Associated Plasma Protein-A*/analysis , Glycoproteins*/blood , Glycoproteins*/metabolism , Human Growth Hormone*/blood , Proteolysis*, Humans ; Child ; Male ; Female ; Adolescent ; Child, Preschool ; Biological Availability ; Insulin-Like Growth Factor Binding Proteins/blood ; Insulin-Like Growth Factor Binding Proteins/metabolism ; Insulin-Like Growth Factor Binding Protein 3/blood ; Insulin-Like Growth Factor Binding Protein 3/metabolism ; Intercellular Signaling Peptides and Proteins/blood ; Case-Control Studies

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: 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: 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: 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: 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

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

المؤلفون: Bækgaard CH; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Lester EB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Møller-Larsen S; Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Lauridsen MF; Department of Clinical Genetics, Hospital Lillebaelt, Vejle Hospital, Vejle, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.

المصدر: Annals of human genetics [Ann Hum Genet] 2024 Sep; Vol. 88 (5), pp. 392-398. Date of Electronic Publication: 2024 May 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-1809 (Electronic) Linking ISSN: 00034800 NLM ISO Abbreviation: Ann Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome*/genetics , Angelman Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics , Beckwith-Wiedemann Syndrome*/diagnosis , DNA Methylation* , Nanopore Sequencing*/methods , Prader-Willi Syndrome*/genetics , Prader-Willi Syndrome*/diagnosis, Humans ; Nanopores ; Sequence Analysis, DNA/methods

المؤلفون: de Laage de Meux P; Ophthalmology Center for Imaging and Laser, Paris, France.; Department of Ophthalmology, Intercity Hospital and University Paris Est, Creteil, France., Mosbah H; Department of Nutrition and Rare Diseases Referral Center PRADORT, Pitié-Salpêtrière Hospital, AP-HP and Sorbonne University, Boulevard de L'Hôpital, Paris Cedex, France; and., Cotton-Viard A; Ophthalmology Unit, Courbevoie, France., Cohen SY; Ophthalmology Center for Imaging and Laser, Paris, France.; Department of Ophthalmology, Intercity Hospital and University Paris Est, Creteil, France.

المصدر: Retinal cases & brief reports [Retin Cases Brief Rep] 2024 Sep 01; Vol. 18 (5), pp. 647-650.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101298744 Publication Model: Print Cited Medium: Internet ISSN: 1937-1578 (Electronic) Linking ISSN: 19351089 NLM ISO Abbreviation: Retin Cases Brief Rep Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/complications , Prader-Willi Syndrome*/diagnosis , Fovea Centralis*/pathology , Hypopigmentation*/diagnosis , Hypopigmentation*/etiology, Humans ; Male ; Adult ; Tomography, Optical Coherence/methods ; Fundus Oculi ; Fluorescein Angiography/methods ; Retinal Diseases/etiology ; Retinal Diseases/diagnosis