المؤلفون: Urzua A; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo.; Current affiliation: Laboratorio de Biología Molecular y Citogenética, Pontificia Universidad Católica de Chile, Santiago, Chile., Catena S; Jackson Memorial Hospital, University of Miami, USA., Morales P; Laboratorio de Citogenética y Genética Molecular, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile., Lay-Son G; Hospital Padre Hurtado.; Unidad de Genética y Enfermedades Metabólicas, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2024 Jul 01; Vol. 33 (3), pp. 105-109. Date of Electronic Publication: 2024 May 29.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Inversion* , Chromosomes, Human, Pair 11*/genetics , Silver-Russell Syndrome*/genetics , Silver-Russell Syndrome*/diagnosis, Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pedigree ; Phenotype

المؤلفون: Yamoto K; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1, Handayama, Chuo-ku, Hamamatsu, 431-3192, Japan.; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1, Handayama, Chuo-ku, Hamamatsu, 431-3192, Japan., Ohkubo Y; Department of Pediatrics, Shizuoka Saiseikai Hospital, Shizuoka, Japan., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Ogata T; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1, Handayama, Chuo-ku, Hamamatsu, 431-3192, Japan. tomogata@hama-med.ac.jp.; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan. tomogata@hama-med.ac.jp.; Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan. tomogata@hama-med.ac.jp.

المصدر: Clinical epigenetics [Clin Epigenetics] 2024 Jun 05; Vol. 16 (1), pp. 73. Date of Electronic Publication: 2024 Jun 05.

نوع المنشور: Journal Article; Case Reports; Review

بيانات الدورية: Publisher: BiomedCentral Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE

مواضيع طبية MeSH: Silver-Russell Syndrome*/genetics , HMGA2 Protein*/genetics, Humans ; Male ; Female ; Frameshift Mutation/genetics ; Japan ; Genomic Imprinting/genetics ; Infant ; Insulin-Like Growth Factor II/genetics ; DNA Methylation/genetics ; Chromosomes, Human, Pair 12/genetics

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: Lin HY; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.; Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan.; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan., Lee CL; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.; Institute of Clinical Medicine, National Yang-Ming Chiao Tung University, Taipei, Taiwan., Tu YR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan., Chang YH; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan., Niu DM; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.; Institute of Clinical Medicine, National Yang-Ming Chiao Tung University, Taipei, Taiwan.; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan., Chang CY; Department of Pediatrics, MacKay Memorial Hospital, Hsinchu, Taiwan., Chiu PC; Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan., Chou YY; Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan., Hsiao HP; Department of Pediatrics, Kaohsiung Medical University Chung Ho Memorial Hospital, Kaohsiung, Taiwan., Tsai MC; Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan., Chao MC; Department of Pediatrics, Changhua Christian Children's Hospital, Changhua, Taiwan., Tsai LP; Department of Pediatrics, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City, Taiwan., Yang CF; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan., Su PH; Department of Pediatrics, Chung Shan Medical University, Taichung, Taiwan., Pan YW; Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan., Lee CH; Department of Pediatrics, Chang Gung Memorial Hospital, Kaohsiung, Taiwan., Chu TH; Department of Pediatrics, China Medical University Hsinchu Hospital, Taiwan., Chuang CK; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.; College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan., Lin SP; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.

المصدر: International journal of medical sciences [Int J Med Sci] 2024 Jan 01; Vol. 21 (1), pp. 8-18. Date of Electronic Publication: 2024 Jan 01 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Ivyspring International Publisher Country of Publication: Australia NLM ID: 101213954 Publication Model: eCollection Cited Medium: Internet ISSN: 1449-1907 (Electronic) Linking ISSN: 14491907 NLM ISO Abbreviation: Int J Med Sci Subsets: MEDLINE

مواضيع طبية MeSH: Silver-Russell Syndrome*/diagnosis , Silver-Russell Syndrome*/genetics , Silver-Russell Syndrome*/pathology , Imprinting Disorders*, Infant, Newborn ; Female ; Pregnancy ; Humans ; DNA Methylation/genetics ; Phenotype ; Uniparental Disomy/genetics

المؤلفون: Ventresca S; Pediatric Section, University Hospital Arcispedale Sant'Anna, University of Ferrara, Ferrara, Italy.; Endocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy., Lepri FR; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Criscuolo S; Endocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy.; Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy., Bottaro G; Endocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, Rome, Italy., Loche S; Research Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cappa M; Research Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Mar 26; Vol. 15, pp. 1364234. Date of Electronic Publication: 2024 Mar 26 (Print Publication: 2024).

نوع المنشور: Case Reports

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: Silver-Russell Syndrome*/drug therapy , Silver-Russell Syndrome*/genetics , Silver-Russell Syndrome*/diagnosis , Human Growth Hormone*/therapeutic use , Human Growth Hormone*/genetics, Child ; Female ; Humans ; Growth Hormone/genetics ; Paternal Inheritance ; Phenotype ; Fetal Growth Retardation/genetics ; Insulin-Like Growth Factor II/genetics

المؤلفون: Maharaj AV; Centre for Endocrinology, William Harvey Research Institute, QMUL, London, United Kingdom., Cottrell E; Centre for Endocrinology, William Harvey Research Institute, QMUL, London, United Kingdom., Thanasupawat T; Department of Human Anatomy and Cell Science, University of Manitoba, Winnipeg, Manitoba, Canada., Joustra SD; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, Netherlands., Triggs-Raine B; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Fujimoto M; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, USA., Kant SG; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, Netherlands., van der Kaay D; Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, Netherlands., Clement-de Boers A; Department of Paediatrics, Juliana Children's Hospital/Haga Teaching Hospital, The Hague, Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Aguirre GA; CITES - Escuela Nacional de Medicina, TEC de Monterrey, Monterrey, Nuevo León, Mexico., Martín Del Estal I; CITES - Escuela Nacional de Medicina, TEC de Monterrey, Monterrey, Nuevo León, Mexico., Castilla de Cortázar Larrea MI; CITES - Escuela Nacional de Medicina, TEC de Monterrey, Monterrey, Nuevo León, Mexico., Massoud A; Department of Paediatrics and Child Health, HCA Healthcare UK, London, United Kingdom., van Duyvenvoorde HA; Laboratory for Diagnostic Genome analysis (LDGA), Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands., De Bruin C; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, Netherlands., Hwa V; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, USA., Klonisch T; Department of Human Anatomy and Cell Science, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Pathology, and.; Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, Manitoba, Canada., Hombach-Klonisch S; Department of Human Anatomy and Cell Science, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Pathology, and., Storr HL; Centre for Endocrinology, William Harvey Research Institute, QMUL, London, United Kingdom.

المصدر: JCI insight [JCI Insight] 2024 Feb 20; Vol. 9 (6). Date of Electronic Publication: 2024 Feb 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: HMGA2 Protein*/genetics , Silver-Russell Syndrome*/genetics , Silver-Russell Syndrome*/diagnosis, Animals ; Humans ; Mice ; Base Sequence ; Growth Disorders/genetics ; Phenotype

المؤلفون: Paglia M; Department of Maternal and Paediatric dentistry, Italian Stomatological Institute, Milan, Italy., Braiotta F; Department of Maternal and Paediatric dentistry, Italian Stomatological Institute, Milan, Italy., Quinzi V; Assistant Professor, Department of life, Health and Environmental Sciences University of L ́Aquila, Italy.

المصدر: European journal of paediatric dentistry [Eur J Paediatr Dent] 2024 Mar 01; Vol. 25 (1), pp. 69-71. Date of Electronic Publication: 2024 Feb 01.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Ariesdue Country of Publication: Italy NLM ID: 101121881 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2035-648X (Electronic) Linking ISSN: 1591996X NLM ISO Abbreviation: Eur J Paediatr Dent Subsets: MEDLINE

مواضيع طبية MeSH: Silver-Russell Syndrome*, Female ; Humans ; Child ; Pain

المؤلفون: Toni L; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia., Plachy L; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia., Dusatkova P; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia., Amaratunga SA; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia., Elblova L; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia., Sumnik Z; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia., Kolouskova S; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia., Snajderova M; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia., Obermannova B; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia., Pruhova S; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia., Lebl J; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia.

المصدر: Hormone research in paediatrics [Horm Res Paediatr] 2024; Vol. 97 (1), pp. 40-52. Date of Electronic Publication: 2023 Apr 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE

مواضيع طبية MeSH: Silver-Russell Syndrome*/genetics , Dwarfism* , Human Growth Hormone*/genetics, Child ; Infant, Newborn ; Humans ; Insulin-Like Growth Factor I ; Growth Disorders/genetics ; Growth Disorders/diagnosis ; Gestational Age ; Infant, Small for Gestational Age ; Body Height/genetics ; Short Stature Homeobox Protein

المؤلفون: Schlaich E; Institute for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Hubens WHG; Institute for Stem Cell Biology, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Helmholtz Institute for Biomedical Engineering, RWTH Aachen University, Aachen, Germany., Eggermann T; Institute for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2264. Date of Electronic Publication: 2023 Jul 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics , Silver-Russell Syndrome*/diagnosis , Silver-Russell Syndrome*/genetics , Imprinting Disorders*, Humans ; DNA Methylation ; Genomic Imprinting ; Multiplex Polymerase Chain Reaction

المؤلفون: Shpiner DS; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA., Peabody TK; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA., Luca CC; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA., Jagid J; Department of Neurological Surgery, University of Miami Miller School of Medicine, Miami, FL, USA., Moore H; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA.

المصدر: Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2023 Oct 30; Vol. 13, pp. 40. Date of Electronic Publication: 2023 Oct 30 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Ubiquity Press Country of Publication: England NLM ID: 101569493 Publication Model: eCollection Cited Medium: Internet ISSN: 2160-8288 (Electronic) Linking ISSN: 21608288 NLM ISO Abbreviation: Tremor Other Hyperkinet Mov (N Y) Subsets: MEDLINE

مواضيع طبية MeSH: Silver-Russell Syndrome*/genetics , Dystonia*/complications , Dystonia*/genetics , Dystonia*/therapy , Myoclonus*/complications , Myoclonus*/genetics , Myoclonus*/therapy , Deep Brain Stimulation*/methods, Female ; Humans ; Young Adult ; Adult ; Uniparental Disomy

SCR Disease Name: Myoclonic dystonia