Temat: "Beckwith-Wiedemann Syndrome" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: A supervised learning method for classifying methylation disorders.
Autorzy:: 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. .; Pokaż więcej
Źródło:: BMC bioinformatics [BMC Bioinformatics] 2024 Feb 12; Vol. 25 (1), pp. 66. Date of Electronic Publication: 2024 Feb 12.
Typ publikacji:: Journal Article
MeSH Terms:: Beckwith-Wiedemann Syndrome*/diagnosis
Beckwith-Wiedemann Syndrome*/genetics
Silver-Russell Syndrome*/diagnosis
Silver-Russell Syndrome*/genetics
Humans ; Genomic Imprinting ; DNA Methylation ; Supervised Machine Learning

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Skocz do pozycji: 2.

Tytuł:: Comprehensive review of the timing of surgical management of macroglossia in Beckwith-Wiedemann syndrome.
Autorzy:: Kizek P
Glinska KK
Riznic M
Borza B
Schwartzova V
Kotulicova Z; Pokaż więcej
Źródło:: Bratislavske lekarske listy [Bratisl Lek Listy] 2024; Vol. 125 (1), pp. 33-37.
Typ publikacji:: Systematic Review; Journal Article
MeSH Terms:: Macroglossia*/etiology
Macroglossia*/surgery
Beckwith-Wiedemann Syndrome*/complications
Beckwith-Wiedemann Syndrome*/surgery
Humans ; Quality of Life ; Glossectomy/adverse effects
SCR Disease Name:: Congenital macroglossia

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Skocz do pozycji: 3.

Tytuł:: First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.
Autorzy:: 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.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2264. Date of Electronic Publication: 2023 Jul 31.
Typ publikacji:: Journal Article
MeSH Terms:: 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

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Skocz do pozycji: 4.

Tytuł:: Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.
Autorzy:: Elefante P; Department of Medicine, Surgery, and Health Sciences, University of Trieste, Via dell'Istria 65/1, Trieste, 34137, Italy. .
Spedicati B; Department of Medicine, Surgery, and Health Sciences, University of Trieste, Via dell'Istria 65/1, Trieste, 34137, Italy.
Faletra F; Medical Genetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Pignata L; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.
Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.
Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB) 'Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), Naples, Italy.
Barbi E; Department of Medicine, Surgery, and Health Sciences, University of Trieste, Via dell'Istria 65/1, Trieste, 34137, Italy.; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Memo L; Clinical Genetics, Department of Pediatrics, Ospedale San Bortolo, Vicenza, Italy.
Travan L; Neonatal Intensive Care Unit, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Pokaż więcej
Źródło:: Italian journal of pediatrics [Ital J Pediatr] 2023 Sep 25; Vol. 49 (1), pp. 127. Date of Electronic Publication: 2023 Sep 25.
Typ publikacji:: Review; Case Reports; Journal Article
MeSH Terms:: Beckwith-Wiedemann Syndrome*/diagnosis
Beckwith-Wiedemann Syndrome*/genetics
Beckwith-Wiedemann Syndrome*/therapy
Female ; Child ; Pregnancy ; Humans ; Genotype ; Phenotype ; Siblings ; Twins

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Skocz do pozycji: 5.

Tytuł:: Beckwith-Wiedemann Syndrome in Newborn of Mother with HELLP Syndrome/Preeclampsia: An Analysis of Literature and Case Report with Fetal Growth Restriction and Absence of CDKN1C Typical Pathogenic Genetic Variation.
Autorzy:: Staniczek J; Chair and Department of Gynecology, Obstetrics and Gynecologic Oncology, Medical University of Silesia, 40-211 Katowice, Poland.
Manasar-Dyrbuś M; Chair and Department of Gynecology, Obstetrics and Gynecologic Oncology, Medical University of Silesia, 40-211 Katowice, Poland.
Drosdzol-Cop A; Chair and Department of Gynecology, Obstetrics and Gynecologic Oncology, Medical University of Silesia, 40-211 Katowice, Poland.
Stojko R; Chair and Department of Gynecology, Obstetrics and Gynecologic Oncology, Medical University of Silesia, 40-211 Katowice, Poland.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 29; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 29.
Typ publikacji:: Case Reports
MeSH Terms:: HELLP Syndrome*/diagnosis
HELLP Syndrome*/genetics
Pre-Eclampsia*/genetics
Beckwith-Wiedemann Syndrome*/diagnosis
Beckwith-Wiedemann Syndrome*/genetics
Female ; Pregnancy ; Infant ; Infant, Newborn ; Humans ; Fetal Growth Retardation/genetics ; Mothers ; Genetic Variation ; Cyclin-Dependent Kinase Inhibitor p57/genetics

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Skocz do pozycji: 6.

Tytuł:: Beckwith-Wiedemann syndrome.
Autorzy:: Mishra D; Department of Anaesthesia, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Sawangi, India.
Chakole V; Department of Anaesthesia, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Sawangi, India.; Pokaż więcej
Źródło:: The Pan African medical journal [Pan Afr Med J] 2023 May 05; Vol. 45, pp. 17. Date of Electronic Publication: 2023 May 05 (Print Publication: 2023).
Typ publikacji:: Journal Article
MeSH Terms:: Beckwith-Wiedemann Syndrome*/diagnosis
Humans

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Skocz do pozycji: 7.

Tytuł:: Identification of differentially methylated regions in rare diseases from a single-patient perspective.
Autorzy:: Grolaux R; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium.
Hardy A; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium.
Olsen C; Clinical Sciences, Research Group Reproduction and Genetics, Brussels Interuniversity Genomics High Throughput Core (BRIGHTcore), Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.; Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.; Interuniversity Institute of Bioinformatics in Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.
Van Dooren S; Clinical Sciences, Research Group Reproduction and Genetics, Brussels Interuniversity Genomics High Throughput Core (BRIGHTcore), Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.; Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.; Interuniversity Institute of Bioinformatics in Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.
Smits G; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium.; Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Defrance M; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium. .; Pokaż więcej
Źródło:: Clinical epigenetics [Clin Epigenetics] 2022 Dec 16; Vol. 14 (1), pp. 174. Date of Electronic Publication: 2022 Dec 16.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genomic Imprinting*
Beckwith-Wiedemann Syndrome*/genetics
Humans ; DNA Methylation ; Rare Diseases/diagnosis ; Rare Diseases/genetics

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Skocz do pozycji: 8.

Tytuł:: First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Autorzy:: Mackay D; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.
Bliek J; Department of Human Genetics, Laboratory for Genome Diagnostics, Amsterdam UMC, Amsterdam, Netherlands.
Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Tenorio-Castano J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium.
Pereda A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, C/Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain.
Brioude F; INSERM, UMR 938, Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Sorbonne Université, 75012, Paris, France.
Netchine I; INSERM, UMR 938, Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Sorbonne Université, 75012, Paris, France.
Papingi D; Institute of Human Genetics, University of Hamburg, Hamburg, Germany.
de Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Lever M; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.
Sillibourne J; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.
Lombardi P; Department of Human Genetics, Laboratory for Genome Diagnostics, Amsterdam UMC, Amsterdam, Netherlands.
Gaston V; Centre de Référence du Syndrome de Prader-Willi et Autres Obésités Avec Troubles du Comportement Alimentaire, Unité d'Endocrinologie, Obésité, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants CHU Toulouse, Toulouse, France.
Tauber M; Centre de Référence du Syndrome de Prader-Willi et Autres Obésités Avec Troubles du Comportement Alimentaire, Unité d'Endocrinologie, Obésité, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants CHU Toulouse, Toulouse, France.
Diene G; Laboratoire de Génétique Médicale, Institut Fédératif de Biologie CHU Toulouse, Toulouse, France.
Bieth E; Laboratoire de Génétique Médicale, Institut Fédératif de Biologie CHU Toulouse, Toulouse, France.
Fernandez L; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium.
Nevado J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium.
Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Riccio A; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, Naples, Italy.
Maher ER; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.
Beygo J; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Tannorella P; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Russo S; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
de Nanclares GP; ERN-Ithaca, European Reference Networks, Brussels, Belgium.
Temple IK; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.; Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, UK.
Ogata T; Department of Pediatrics, Hamamatsu Medical Center and Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium.
Eggermann T; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany. .; Pokaż więcej
Źródło:: Clinical epigenetics [Clin Epigenetics] 2022 Nov 07; Vol. 14 (1), pp. 143. Date of Electronic Publication: 2022 Nov 07.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Silver-Russell Syndrome*/diagnosis
Silver-Russell Syndrome*/genetics
Beckwith-Wiedemann Syndrome*/diagnosis
Beckwith-Wiedemann Syndrome*/genetics
Humans ; Genomic Imprinting ; DNA Methylation ; Growth Disorders/genetics ; Diagnostic Techniques and Procedures

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Skocz do pozycji: 9.

Tytuł:: Localized Placental Mesenchymal Dysplasia in Monochorionic Diamniotic Twin Placenta with Beckwith-Wiedemann Syndrome.
Autorzy:: Eren Karanis MI; Konya Education and Research Hospital, Pathology, University of Health Science, Konya, Turkey.
Zamani AG; Medical Genetics, Necmettin Erbakan University Meram Medical Faculty Hospital, Konya, Turkey.; Pokaż więcej
Źródło:: Fetal and pediatric pathology [Fetal Pediatr Pathol] 2022 Aug; Vol. 41 (4), pp. 657-664. Date of Electronic Publication: 2020 Dec 27.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Beckwith-Wiedemann Syndrome*/pathology
Hypoglycemia*/pathology
Placenta Diseases*/pathology
Chromosome Aberrations ; Female ; Humans ; Hyperplasia/pathology ; Placenta/pathology ; Pregnancy

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Skocz do pozycji: 10.

Tytuł:: Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Autorzy:: Pignata L; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.
Cecere F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Verma A; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Hay Mele B; Department of Biology, Università Degli Studi Di Napoli 'Federico II', Naples, Italy.
Monticelli M; Department of Biology, Università Degli Studi Di Napoli 'Federico II', Naples, Italy.
Acurzio B; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Giaccari C; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Sparago A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.
Hernandez Mora JR; Cancer Epigenetic and Biology Program (PEBC), Imprinting and Cancer Group, Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Avinguda Granvia, L'Hospitalet de Llobregat, Barcelona, Spain.
Monteagudo-Sánchez A; Cancer Epigenetic and Biology Program (PEBC), Imprinting and Cancer Group, Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Avinguda Granvia, L'Hospitalet de Llobregat, Barcelona, Spain.
Esteller M; Josep Carreras Leukeamia Research Institute, Can Ruti, Cami de les Escoles, Badalona, Barcelona, Spain.; Centro de Investigacion Biomedica en Red Cancer (CIBERONC), Madrid, Spain.; Institucio Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Catalonia, Spain.; Physiological Sciences Department, School of Medicine and Health Sciences, University of Barcelona (UB), Barcelona, Catalonia, Spain.
Pereda A; Molecular (Epi)Genetics Laboratory, Rare Diseases Research Group, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, C/Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain.
Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.
Palumbo O; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo Della Sofferenza', 71013, San Giovanni Rotondo, FG, Italy.
Carella M; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo Della Sofferenza', 71013, San Giovanni Rotondo, FG, Italy.
Prontera P; Medical Genetics Unit, University and Hospital of Perugia, Perugia, Italy.
Piscopo C; Medical and Laboratory Genetics Unit, 'Antonio Cardarelli' Hospital, 80131, Naples, Italy.
Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', 73039, Tricase, Lecce, Italy.
Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.
Cubellis MV; Department of Biology, Università Degli Studi Di Napoli 'Federico II', Naples, Italy.
de Nanclares GP; Molecular (Epi)Genetics Laboratory, Rare Diseases Research Group, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, C/Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain.
Monk D; Cancer Epigenetic and Biology Program (PEBC), Imprinting and Cancer Group, Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Avinguda Granvia, L'Hospitalet de Llobregat, Barcelona, Spain.; School of Biological Sciences, University of East Anglia, Norwich, NR4 7TG, UK.
Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy. .; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy. .
Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy. .; Pokaż więcej
Źródło:: Clinical epigenetics [Clin Epigenetics] 2022 May 28; Vol. 14 (1), pp. 71. Date of Electronic Publication: 2022 May 28.
Typ publikacji:: Journal Article
MeSH Terms:: Beckwith-Wiedemann Syndrome*/diagnosis
Beckwith-Wiedemann Syndrome*/genetics
Pseudohypoparathyroidism*/genetics
DNA Methylation ; Genomic Imprinting ; Humans ; Proteins/genetics ; Pseudohypoparathyroidism

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Skocz do pozycji: 11.

Tytuł:: IGF2 : Development, Genetic and Epigenetic Abnormalities.
Autorzy:: Sélénou C; Centre de Recherche Saint-Antoine, INSERM, Sorbonne Université, F-75012 Paris, France.
Brioude F; Centre de Recherche Saint-Antoine, INSERM, Sorbonne Université, F-75012 Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne University, F-75012 Paris, France.
Giabicani E; Centre de Recherche Saint-Antoine, INSERM, Sorbonne Université, F-75012 Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne University, F-75012 Paris, France.
Sobrier ML; Centre de Recherche Saint-Antoine, INSERM, Sorbonne Université, F-75012 Paris, France.
Netchine I; Centre de Recherche Saint-Antoine, INSERM, Sorbonne Université, F-75012 Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne University, F-75012 Paris, France.; Pokaż więcej
Źródło:: Cells [Cells] 2022 Jun 10; Vol. 11 (12). Date of Electronic Publication: 2022 Jun 10.
Typ publikacji:: Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:: Beckwith-Wiedemann Syndrome*/genetics
Silver-Russell Syndrome*/genetics
Animals ; Epigenomics ; Genomic Imprinting ; Humans ; Insulin-Like Growth Factor II/genetics ; Insulin-Like Growth Factor II/metabolism ; Mice

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Skocz do pozycji: 12.

Tytuł:: Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia.
Autorzy:: Aoki S; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan.; Department of Obstetrics and Gynecology, Faculty of Life Sciences, Kumamoto University, Kumamoto, 860-8556, Japan.
Higashimoto K; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan. .
Hidaka H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan.
Ohtsuka Y; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, 849-8501, Japan.
Aoki S; Department of Pathology and Microbiology, Faculty of Medicine, Saga University, Saga, 849-8501, Japan.
Mishima H; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, 852-8523, Japan.
Yoshiura KI; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, 852-8523, Japan.
Nakabayashi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
Yatsuki H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan.
Hara S; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan.
Ohba T; Department of Obstetrics and Gynecology, Faculty of Life Sciences, Kumamoto University, Kumamoto, 860-8556, Japan.
Katabuchi H; Department of Obstetrics and Gynecology, Faculty of Life Sciences, Kumamoto University, Kumamoto, 860-8556, Japan.
Soejima H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan. .; Pokaż więcej
Źródło:: Clinical epigenetics [Clin Epigenetics] 2022 May 17; Vol. 14 (1), pp. 64. Date of Electronic Publication: 2022 May 17.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Beckwith-Wiedemann Syndrome*/genetics
Hydatidiform Mole*/genetics
Uterine Neoplasms*/genetics
DNA Methylation ; Female ; Genomic Imprinting ; Humans ; Placenta ; Pregnancy

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Skocz do pozycji: 13.

Tytuł:: Identification of a novel ANK1 mutation in hereditary spherocytosis co-existing with BWS.
Autorzy:: Zhang Q; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Zhang C; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Wang Y; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Hao S; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Shi J; Department of Neonatal Intensive Care Unit, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Feng X; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Zheng L; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Wang X; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Xue C; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Zhou B; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Liu F; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Zhao F; Department of Neonatal Intensive Care Unit, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.
Li X; The Laboratory of Computational Medicine and Systems Biology, School of Medicine, South China University of Technology, Guangzhou, China.; Guangdong Lung Cancer Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, School of Medicine, South China University of Technology, Guangzhou, China.
Deng L; The Laboratory of Computational Medicine and Systems Biology, School of Medicine, South China University of Technology, Guangzhou, China.
Hou J; The Laboratory of Computational Medicine and Systems Biology, School of Medicine, South China University of Technology, Guangzhou, China.
Meng Z; Department of Obstetrics, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Apr; Vol. 10 (4), pp. e1903. Date of Electronic Publication: 2022 Feb 25.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Beckwith-Wiedemann Syndrome*/genetics
Spherocytosis, Hereditary*/diagnosis
Spherocytosis, Hereditary*/genetics
Ankyrins/genetics ; DNA Methylation ; Humans ; Infant, Newborn ; Mutation ; Exome Sequencing

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Skocz do pozycji: 14.

Tytuł:: Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.
Autorzy:: Tannorella P; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Calzari L; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Bioinformatics and Statistical Genomics Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy.
Daolio C; Pediatric Unit, ASST Mantova, Borgo Mantovano, Italy.
Mainini E; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Vimercati A; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Gentilini D; Bioinformatics and Statistical Genomics Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Soli F; Medical Genetic Unit, S. Chiara Hospital APSS, Trento, Italy.
Pedrolli A; Division of Pediatric, S. Chiara Hospital APSS, Trento, Italy.
Bonati MT; Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Larizza L; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Russo S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy. .; Pokaż więcej
Źródło:: Clinical epigenetics [Clin Epigenetics] 2022 Mar 22; Vol. 14 (1), pp. 43. Date of Electronic Publication: 2022 Mar 22.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Abortion, Spontaneous*/genetics
Beckwith-Wiedemann Syndrome*/genetics
Infertility*/genetics
DNA Methylation ; Female ; Genomic Imprinting ; Germ Cells ; Humans ; Pregnancy

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Skocz do pozycji: 15.

Tytuł:: Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Autorzy:: Eggermann T; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany. .
Yapici E; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
Bliek J; Department of Human Genetics, Laboratory for Genome Diagnostics, Amsterdam UMC, Amsterdam, Netherlands.
Pereda A; Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Alava, Spain.
Begemann M; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
Russo S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Tannorella P; Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Calzari L; Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
de Nanclares GP; Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Alava, Spain.
Lombardi P; Department of Human Genetics, Laboratory for Genome Diagnostics, Amsterdam UMC, Amsterdam, Netherlands.
Temple IK; Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, UK.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Mackay D; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Riccio A; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, Naples, Italy.
Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Ohkura, Setagayaku, Tokyo, Japan.
Ogata T; Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Lapunzina P; CIBERER-ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Madrid, Spain.
Monk D; School of Biological Sciences, University of East Anglia, Norwich, UK.
Maher ER; Department of Medical Genetics, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.; Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.
Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Pokaż więcej
Źródło:: Clinical epigenetics [Clin Epigenetics] 2022 Mar 16; Vol. 14 (1), pp. 41. Date of Electronic Publication: 2022 Mar 16.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Beckwith-Wiedemann Syndrome*/genetics
Silver-Russell Syndrome*/diagnosis
Silver-Russell Syndrome*/genetics
Adaptor Proteins, Signal Transducing/genetics ; CCAAT-Enhancer-Binding Proteins/genetics ; DNA Methylation ; Female ; Genomic Imprinting ; Humans ; Maternal Inheritance ; Pregnancy ; Ubiquitin-Protein Ligases/genetics

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Skocz do pozycji: 16.

Tytuł:: Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Autorzy:: Sassi H; Department of Congenital and Hereditary Diseases, Mongi Slim Hospital Marsa, Tunis, Tunisia.; Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.
Elaribi Y; Department of Congenital and Hereditary Diseases, Mongi Slim Hospital Marsa, Tunis, Tunisia.; Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.
Jilani H; Department of Congenital and Hereditary Diseases, Mongi Slim Hospital Marsa, Tunis, Tunisia.; Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.
Rejeb I; Department of Congenital and Hereditary Diseases, Mongi Slim Hospital Marsa, Tunis, Tunisia.
Hizem S; Department of Congenital and Hereditary Diseases, Mongi Slim Hospital Marsa, Tunis, Tunisia.; Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.
Sebai M; Department of Congenital and Hereditary Diseases, Mongi Slim Hospital Marsa, Tunis, Tunisia.; Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.
Kasdallah N; Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.; Paediatric Department, Military Hospital of Tunis, Tunis, Tunisia.
Bouthour H; Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.; Department of Paediatric Surgery, Tunis, Tunisia.
Hannachi S; Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.; Laboratory of Pathology Anatomy and Cytology, Tunis, Tunisia.
Beygo J; Institute for Human Genetics, Essen University Hospital, Essen, Germany.
Saad A; Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.; Faculty of Medicine of Sousse, University of Sousse, Sousse, Tunisia.
Buiting K; Institute for Human Genetics, Essen University Hospital, Essen, Germany.
H'mida Ben-Brahim D; Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.; Faculty of Medicine of Sousse, University of Sousse, Sousse, Tunisia.
BenJemaa L; Department of Congenital and Hereditary Diseases, Mongi Slim Hospital Marsa, Tunis, Tunisia.; Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1796. Date of Electronic Publication: 2021 Sep 12.
Typ publikacji:: Case Reports; Journal Article; Review
MeSH Terms:: Genetic Association Studies*
Genetic Predisposition to Disease*
Phenotype*
Beckwith-Wiedemann Syndrome/*diagnosis
Beckwith-Wiedemann Syndrome/*genetics
Beckwith-Wiedemann Syndrome/surgery ; Biopsy ; Epigenesis, Genetic ; Female ; Genomic Imprinting ; Humans ; Immunohistochemistry ; Infant ; Male ; Retrospective Studies ; Symptom Assessment ; Tomography, X-Ray Computed ; Treatment Outcome ; Tunisia

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Skocz do pozycji: 17.

Tytuł:: A Beckwith-Wiedemann-Associated CDKN1C Mutation Allows the Identification of a Novel Nuclear Localization Signal in Human p57 .
Autorzy:: Stampone E; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Bencivenga D; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Barone C; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Di Finizio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Della Ragione F; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Borriello A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Jul 11; Vol. 22 (14). Date of Electronic Publication: 2021 Jul 11.
Typ publikacji:: Journal Article
MeSH Terms:: Mutation*
Nuclear Localization Signals*
Beckwith-Wiedemann Syndrome/*genetics
Cell Nucleus/*metabolism
Cyclin-Dependent Kinase Inhibitor p57/*genetics
Cyclin-Dependent Kinase Inhibitor p57/*metabolism
Beckwith-Wiedemann Syndrome/pathology ; Cell Cycle ; Cell Nucleus/genetics ; Cell Proliferation ; HEK293 Cells ; Hep G2 Cells ; Humans

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Skocz do pozycji: 18.

Tytuł:: Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Autorzy:: Cubellis MV; Department of Biology, Università degli Studi di Napoli 'Federico II', Napoli, Italy.
Pignata L; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.
Verma A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB) 'Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), Naples, Italy.
Sparago A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.
Del Prete R; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.
Monticelli M; Department of Biology, Università degli Studi di Napoli 'Federico II', Napoli, Italy.
Calzari L; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy.
Antona V; Department of Sciences for Health Promotion and Mother and Child Care 'G. D'Alessandro', University of Palermo, Palermo, Italy.
Melis D; Medical, Surgical, and Dental Department, Università degli Studi di Salerno, Salerno, Italy.
Tenconi R; Department of Pediatrics, Clinical Genetics, Università di Padova, Padova, Italy.
Russo S; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy.
Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy. .
Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy. .; Institute of Genetics and Biophysics (IGB) 'Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), Naples, Italy. .; Pokaż więcej
Źródło:: Clinical epigenetics [Clin Epigenetics] 2020 Sep 14; Vol. 12 (1), pp. 139. Date of Electronic Publication: 2020 Sep 14.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Beckwith-Wiedemann Syndrome/*genetics
DNA Methylation/*genetics
Maternal Inheritance/*genetics
Protein-Arginine Deiminase Type 6/*genetics
Adolescent ; Adult ; Beckwith-Wiedemann Syndrome/diagnosis ; Child, Preschool ; Female ; Genomic Imprinting/genetics ; Heterozygote ; Humans ; Hydatidiform Mole/epidemiology ; Hydatidiform Mole/genetics ; Infant ; Infertility, Female/epidemiology ; Infertility, Female/genetics ; Male ; Mutation ; Oocytes/metabolism ; Pedigree ; Phenotype ; Pregnancy ; Siblings ; Exome Sequencing/methods

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Skocz do pozycji: 19.

Tytuł:: (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Autorzy:: Fontana L; Medical Genetics, Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milano, Italy.; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Cagnoli GA; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Costanza J; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Persico N; Obstetrics and Gynecology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.; Department of ClinicalSciences and Community Health, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Gangi S; NICU, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Porro M; Pediatric Physical Medicine & Rehabilitation Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Ajmone PF; Child and AdolescentNeuropsychiatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Colapietro P; Medical Genetics, Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milano, Italy.; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Santaniello C; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Crippa M; Medical Cytogenetics& Human Molecular Genetics, Istituto Auxologico Italiano-IRCCS, Milano, Italy.
Sirchia SM; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano, Italy.
Miozzo M; Medical Genetics, Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milano, Italy.; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Tabano S; Medical Genetics, Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milano, Italy.; Laboratory of Medical Genetics, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Sep; Vol. 8 (9), pp. e1386. Date of Electronic Publication: 2020 Jul 06.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Epigenesis, Genetic*
Beckwith-Wiedemann Syndrome/*genetics
Twins, Monozygotic/*genetics
Adult ; Beckwith-Wiedemann Syndrome/pathology ; Child, Preschool ; Chromosomes, Human, Pair 11/genetics ; DNA Methylation ; Female ; Humans ; KCNQ1 Potassium Channel/genetics ; KCNQ1 Potassium Channel/metabolism ; Placenta/metabolism ; Pregnancy ; Prenatal Diagnosis/methods ; Prenatal Diagnosis/standards ; Exome Sequencing/methods ; Exome Sequencing/standards ; X Chromosome Inactivation

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Skocz do pozycji: 20.

Tytuł:: Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management.
Autorzy:: Wesseler K; Institute of Human Genetics, University Hospital, Technical University Aachen (RWTH), 52074 Aachen, Germany.
Kraft F; Institute of Human Genetics, University Hospital, Technical University Aachen (RWTH), 52074 Aachen, Germany.
Eggermann T; Institute of Human Genetics, University Hospital, Technical University Aachen (RWTH), 52074 Aachen, Germany. .; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2019 Aug 28; Vol. 20 (17). Date of Electronic Publication: 2019 Aug 28.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Genomic Imprinting*
Beckwith-Wiedemann Syndrome/*genetics
Genetic Services/*standards
Silver-Russell Syndrome/*genetics
Beckwith-Wiedemann Syndrome/diagnosis ; Beckwith-Wiedemann Syndrome/therapy ; Chromosomes, Human, Pair 11/genetics ; Disease Management ; Humans ; Silver-Russell Syndrome/diagnosis ; Silver-Russell Syndrome/therapy

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Beckwith-Wiedemann syndrome.