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: DNA Methylation* , Genomic Imprinting* , Nanopore Sequencing*/methods , Angelman Syndrome*/genetics , Angelman Syndrome*/diagnosis , Prader-Willi Syndrome*/genetics , Prader-Willi Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics , Beckwith-Wiedemann Syndrome*/diagnosis, Humans ; Sequence Analysis, DNA/methods ; Nanopores ; Imprinting Disorders

المؤلفون: Bridges A; Department of Obstetrics and Gynecology, Oregon Health and Sciences University, Portland, OR., Hwang J; Department of Pediatrics, Oregon Health and Sciences University, Portland, OR., Edwards E; Department of Diagnostic Radiology, Oregon Health and Sciences University, Portland, OR., Feist C; Department of Obstetrics and Gynecology, Oregon Health and Sciences University, Portland, OR., Dukhonvy S; Department of Obstetrics and Gynecology, Oregon Health and Sciences University, Portland, OR.

المصدر: NeoReviews [Neoreviews] 2024 Jul 01; Vol. 25 (7), pp. e457-e465.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 101085360 Publication Model: Print Cited Medium: Internet ISSN: 1526-9906 (Electronic) Linking ISSN: 15269906 NLM ISO Abbreviation: Neoreviews Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome*/diagnosis , Hernia, Umbilical*/diagnosis , Hernia, Umbilical*/diagnostic imaging, Humans ; Female ; Pregnancy ; Adult ; Prenatal Diagnosis ; Ultrasonography, Prenatal ; Infant, Newborn

المؤلفون: Collier S; Department of Pathology, New Orleans Children's Hospital, LA State University Health Science Center and Children's Hospital of New Orleans, New Orleans, LA, USA., Wasilewska EM; Department of Radiology, Tulane School of Medicine, Children's Hospital of New Orleans. New Orleans Children's Hospital, New Orleans, LA, USA., Craver R; Department of Pathology, New Orleans Children's Hospital, LA State University Health Science Center and Children's Hospital of New Orleans, New Orleans, LA, USA.

المصدر: Fetal and pediatric pathology [Fetal Pediatr Pathol] 2024 May-Jun; Vol. 43 (3), pp. 257-265. Date of Electronic Publication: 2024 Apr 08.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 101230972 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-3823 (Electronic) Linking ISSN: 15513815 NLM ISO Abbreviation: Fetal Pediatr Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome*/genetics , Beckwith-Wiedemann Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/pathology , Uniparental Disomy*/genetics , Uniparental Disomy*/diagnosis , Infant, Premature*, Humans ; Female ; Infant, Newborn ; Autopsy ; Pregnancy ; Fatal Outcome

المؤلفون: Şimşekcan E; Department of Plastic Reconstructive and Aesthetic Surgery, Hacettepe University Hospital, Ankara, Turkey. Electronic address: simsekcanpsurg@gmail.com., Sert G; Department of Plastic Reconstructive and Aesthetic Surgery, Hacettepe University Hospital, Ankara, Turkey., Calis M; Department of Plastic Reconstructive and Aesthetic Surgery, Hacettepe University Hospital, Ankara, Turkey., Özgür F; Department of Plastic Reconstructive and Aesthetic Surgery, Hacettepe University Hospital, Ankara, Turkey.

المصدر: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery [J Craniomaxillofac Surg] 2024 May; Vol. 52 (5), pp. 591-597. Date of Electronic Publication: 2024 Feb 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Scotland NLM ID: 8704309 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-4119 (Electronic) Linking ISSN: 10105182 NLM ISO Abbreviation: J Craniomaxillofac Surg Subsets: MEDLINE

مواضيع طبية MeSH: Macroglossia*/surgery , Beckwith-Wiedemann Syndrome*/surgery , Beckwith-Wiedemann Syndrome*/complications, Humans ; Male ; Female ; Infant ; Treatment Outcome ; Child, Preschool ; Surveys and Questionnaires ; Glossectomy/methods ; Esthetics ; Plastic Surgery Procedures/methods

المؤلفون: Choi N; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea., Kim HY; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam-Si, South Korea., Ko JM; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.; Rare Disease Center, Seoul National University Hospital, Seoul, South Korea.

المصدر: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 533-542. Date of Electronic Publication: 2024 Jan 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics, Male ; Child ; Female ; Humans ; DNA Methylation/genetics ; Genomic Imprinting ; Retrospective Studies ; Growth Charts ; Growth Disorders ; Republic of Korea/epidemiology

المؤلفون: Meng LB; Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China., Li Y; Department of Cardiac Surgery, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China., Lv T; Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China., Lv C; Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China., Liu L; Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China., Zhang P; Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China. zhpdoc@126.com.

المصدر: Journal of cardiothoracic surgery [J Cardiothorac Surg] 2024 Jun 06; Vol. 19 (1), pp. 321. Date of Electronic Publication: 2024 Jun 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101265113 Publication Model: Electronic Cited Medium: Internet ISSN: 1749-8090 (Electronic) Linking ISSN: 17498090 NLM ISO Abbreviation: J Cardiothorac Surg Subsets: MEDLINE

مواضيع طبية MeSH: Long QT Syndrome*/genetics , Beckwith-Wiedemann Syndrome*/genetics , Inducible T-Cell Co-Stimulator Protein*/genetics , Inducible T-Cell Co-Stimulator Protein*/metabolism , CD8 Antigens*/genetics , CD8 Antigens*/metabolism, Humans ; Gene Expression Profiling/methods

المؤلفون: Higashimoto K; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan., Sun F; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan.; Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, China., Imagawa E; Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan., Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan., Hara S; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan., Yatsuki H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan., Kubiura-Ichimaru M; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Soejima H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan soejimah@cc.saga-u.ac.jp.

المصدر: Journal of medical genetics [J Med Genet] 2024 May 21; Vol. 61 (6), pp. 590-594. Date of Electronic Publication: 2024 May 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome*/genetics , Beckwith-Wiedemann Syndrome*/pathology , Beckwith-Wiedemann Syndrome*/diagnosis , Exome Sequencing*, Humans ; Male ; Female ; Infant ; Child, Preschool ; Child ; Phenotype ; Growth Disorders/genetics ; Growth Disorders/pathology ; Genetic Variation ; Mutation/genetics

المؤلفون: Marsh JL; 4623 Pershing Place, Saint Louis, MO, 63108, USA., Perlyn CA; Plastic Surgery, Nicklaus Children's Hospital, 3100 SW 62nd Avenue Miami, Miami, FL, 33155-3009, USA.

المصدر: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2024 Apr; Vol. 61 (4), pp. 599-609. Date of Electronic Publication: 2023 Jan 22.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: SAGE Publications in Association with American Cleft Palate-Craniofacial Association Country of Publication: United States NLM ID: 9102566 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-1569 (Electronic) Linking ISSN: 10556656 NLM ISO Abbreviation: Cleft Palate Craniofac J Subsets: MEDLINE

مواضيع طبية MeSH: Macroglossia*/*congenital, Macroglossia*/surgery , Beckwith-Wiedemann Syndrome*/complications , Beckwith-Wiedemann Syndrome*/surgery , Sleep Apnea, Obstructive*/surgery, Child ; Infant ; Humans ; Retrospective Studies ; Tongue/surgery

SCR Disease Name: Congenital macroglossia

المؤلفون: Walsh JR; Mayo Clinic, Rochester, MN, USA., Sun G; Mayo Clinic, Rochester, MN, USA., Balan J; Mayo Clinic, Rochester, MN, USA., Hardcastle J; Mayo Clinic, Rochester, MN, USA., Vollenweider J; Mayo Clinic, Rochester, MN, USA., Jerde C; Mayo Clinic, Rochester, MN, USA., Rumilla K; Mayo Clinic, Rochester, MN, USA., Koellner C; Mayo Clinic, Rochester, MN, USA., Koleilat A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA., Hasadsri L; Mayo Clinic, Rochester, MN, USA., Kipp B; Mayo Clinic, Rochester, MN, USA., Jenkinson G; Mayo Clinic, Rochester, MN, USA., Klee E; Mayo Clinic, Rochester, MN, USA. Klee.Eric@mayo.edu.

المصدر: BMC bioinformatics [BMC Bioinformatics] 2024 Feb 12; Vol. 25 (1), pp. 66. Date of Electronic Publication: 2024 Feb 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105 (Electronic) Linking ISSN: 14712105 NLM ISO Abbreviation: BMC Bioinformatics Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics , Silver-Russell Syndrome*/diagnosis , Silver-Russell Syndrome*/genetics, Humans ; Genomic Imprinting ; DNA Methylation ; Supervised Machine Learning

المؤلفون: Moutafi M; Faculty of Health Sciences, Fourth Department of Pediatrics, Papageorgiou General Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Gkiourtzis N; Faculty of Health Sciences, Fourth Department of Pediatrics, Papageorgiou General Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Ververi A; Faculty of Health Sciences, Genetic Unit, First Department of Obstetrics and Gynaecology, Papageorgiou General Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Kavga M; Faculty of Health Sciences, Fourth Department of Pediatrics, Papageorgiou General Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Morichovitou A; Department of Radiology, Papageorgiou General Hospital, Thessaloniki, Greece., Papadopoulou-Legbelou K; Faculty of Health Sciences, Fourth Department of Pediatrics, Papageorgiou General Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Fotoulaki M; Faculty of Health Sciences, Fourth Department of Pediatrics, Papageorgiou General Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Panagopoulou P; Faculty of Health Sciences, Fourth Department of Pediatrics, Papageorgiou General Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 88-93. Date of Electronic Publication: 2023 Aug 26.

نوع المنشور: Case Reports; 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: Beckwith-Wiedemann Syndrome*/complications , Beckwith-Wiedemann Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/drug therapy , Hemangioma*/diagnosis , Hemangioma*/drug therapy , Hemangioma*/genetics, Infant ; Child ; Infant, Newborn ; Humans ; Female ; Uniparental Disomy ; Propranolol/therapeutic use ; DNA Methylation ; Liver ; Genomic Imprinting