المؤلفون: Lin, Isabella, Awamleh, Zain, Sinvhal, Mili, Wan, Andrew, Bondhus, Leroy, Wei, Angela, Russell, Bianca, Weksberg, Rosanna, Arboleda, Valerie

المصدر: BMC Medical Genetics. 17(1)

مصطلحات موضوعية: ASXL1, Acute myeloid leukemia, Bohring-Opitz syndrome, DNA methylation, Epigenetics, Multi-omics, RNA-sequencing, Transcriptomics, Humans, Repressor Proteins, Protein Isoforms, Wnt Signaling Pathway, DNA Methylation, Leukemia, Myeloid, Acute, Male, Female, Epigenesis, Genetic, Child, Adolescent

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1k85t00d
https://escholarship.org/content/qt1k85t00d/qt1k85t00d.pdf

المؤلفون: Isabella Lin, Zain Awamleh, Mili Sinvhal, Andrew Wan, Leroy Bondhus, Angela Wei, Bianca E. Russell, Rosanna Weksberg, Valerie A. Arboleda

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-20 (2024)

مصطلحات موضوعية: ASXL1, Acute myeloid leukemia, Bohring-Opitz syndrome, Transcriptomics, Epigenetics, Multi-omics, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/57ea2037be6443a296d96f03c4847823

المؤلفون: Lin, Isabella

مصطلحات موضوعية: Genetics, Acute myeloid leukemia, ASXL1, Bloom Syndrome, Bohring-Opitz syndrome, Metabolism, Multi-omics

URL الوصول: https://escholarship.org/uc/item/2wk1s48s

المؤلفون: Maya C. Ayoub, Jeffrey T. Anderson, Bianca E. Russell, Rujuta B. Wilson

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: Bohring-Opitz syndrome, ASXL1, Bainbridge-Ropers syndrome, ASXL3, chromatin modifying disorders, autism, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1244176/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/4f77f8783d88493bb50e12046ebd365c

المؤلفون: Joshi, Umang, Sabal, Saransh, Purohit, Lalit, Mirdha , Dinesh

المصدر: International Journal of Contemporary Pediatrics; Vol. 10 No. 10 (2023): October 2023; 1599-1601 ; 2349-3291 ; 2349-3283

مصطلحات موضوعية: Bohring opitz syndrome, ASXL1, BOS posture, Glabellar nevus sim

وصف الملف: application/pdf

Relation: https://www.ijpediatrics.com/index.php/ijcp/article/view/5697/3489; https://www.ijpediatrics.com/index.php/ijcp/article/view/5697

الاتاحة: https://www.ijpediatrics.com/index.php/ijcp/article/view/5697
https://doi.org/10.18203/2349-3291.ijcp20232893

المؤلفون: Weiqing Zhao, Xiao Hu, Ye Liu, Xike Wang, Yun Chen, Yangyang Wang, Hao Zhou

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: Bohring-Opitz syndrome, ASXL1 gene, intrauterine growth restriction, infant, rare diseases, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.678615/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/6144d3b1762f4b56ab88385ec19634a1

المؤلفون: Matheus, F., Rusha, E., Rehimi, R., Molitor, L., Pertek, A., Modic, M., Feederle, R., Flatley, A., Kremmer, E., Geerlof, A., Rishko, V., Rada-Iglesias, A., Drukker, M.

المصدر: Stem Cell Rep. 12, 861-868 (2019)

مصطلحات موضوعية: Asxl1, Bohring-opitz Syndrome, Neural Crest, Polycomb, Zic1

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/31006630; info:eu-repo/semantics/altIdentifier/wos/WOS:000467952400001; info:eu-repo/semantics/altIdentifier/isbn/2213-6711; info:eu-repo/semanti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55901; urn:isbn:2213-6711; urn:issn:2213-6711

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55901
https://doi.org/10.1016/j.stemcr.2019.03.006

المؤلفون: Efthymiou, S, Salpietro, V, Pironti, E, Bonsignore, M, Ferrazzoli, V, Di Rosa, G, Houlden, H

المصدر: Journal of Genetics , 98 (5) , Article 108. (2019)

مصطلحات موضوعية: Bohring-Opitz syndrome, ASXL1 gene, segmental overgrowth, nevus flammeus, macrocephaly capillary malformation

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10094644/3/Efthymiou_A%20de%20novo%20truncating%20mutation%20in%20ASXL1%20associated%20with%20segmental%20overgrowth_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10094644/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10094644/3/Efthymiou_A%20de%20novo%20truncating%20mutation%20in%20ASXL1%20associated%20with%20segmental%20overgrowth_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10094644/

المؤلفون: Kuechler, Alma, Czeschik,, Johanna, Graf, Elisabeth, Grasshoff, Ute, Hueffmeier,, Ulrike, Busa, Tiffany, Beck-Woedl, Stefanie, Faivre, Laurence, Riviere, Jean-Baptiste, Bader, Ingrid, Koch, Johannes, Reis, André, Hehr, Ute, Rittinger, Olaf, Sperl, Wolfgang, Haack, Tobias b., Wieland, Thomas, Engels, Hartmut, Prokisch, Holger, Strom, Tim M, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

المساهمون: Institut für Humangenetik Essen, Universität Duisburg-Essen = University of Duisburg-Essen Essen -Universitätsklinikum Essen Universität Duisburg-Essen (Uniklinik Essen), Institute of Human Genetics, Helmholtz Zentrum München = German Research Center for Environmental Health (HMGU), Institut für Medizinische Genetik und Angewandte Genomik, Universitäts Klinikum Tübingen, Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Laboratoire de cytogénétique (CHU de Dijon), Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), Zentrum für Humangenetik, University Hospital Regensburg, Rheinische Friedrich-Wilhelms-Universität Bonn, Interdisciplinary Center for Clinical Research (laboratory rotation) of the Clinical Center Erlangen of the Friedrich-Alexander-Universitat Erlangen-Nurnberg German Ministry of Research and Education as part of the National Genome Research Network 01GS08164 01GS08167 01GS08163 German Network for Mitochondrial Disorders (mitoNET) 01GM1113 E-Rare project GENOMIT 01GM1207 uniorverbund in der Systemmedizin 'mitOmics' FKZ 01ZX1405C PARI Marfanoid habitus and intellectual deficiency (Regional Council of Burgundy, France) PARI Marfanoid habitus and intellectual deficiency (Dijon University Hospital, France)

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: bohring-opitz syndrome, novo frameshift mutation, intellectual disability, gene, disorders, phenotype, family, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/27901041; PUBMED: 27901041; PUBMEDCENTRAL: PMC5255962

الاتاحة: https://u-bourgogne.hal.science/hal-01550212
https://u-bourgogne.hal.science/hal-01550212v1/document
https://u-bourgogne.hal.science/hal-01550212v1/file/ejhg2016165a.pdf
https://doi.org/10.1038/ejhg.2016.165

المؤلفون: Anand Kumawat, Ramesh Choudhary, Romesh Gauttam, Vishnu Pansari

المصدر: IP Journal of Paediatrics and Nursing Science. 4:84-86

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, business.industry, nutritional and metabolic diseases, medicine.disease, Diaphragm (structural system), embryonic structures, Rare case, medicine, Rare syndrome, lipids (amino acids, peptides, and proteins), business, Medical science, Bohring–Opitz syndrome, C syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8e0f19626ef108e9df691f2cf82836a5
https://doi.org/10.18231/j.ijpns.2021.017

المؤلفون: Robert W. Wong, Effie Z. Rahman, Madeline Hanes, C. Armitage Harper

المصدر: Ophthalmic Surgery, Lasers and Imaging Retina. 52:400-402

مصطلحات موضوعية: Down syndrome, medicine.medical_specialty, genetic structures, medicine.medical_treatment, Vitrectomy, Cataract, Craniosynostoses, chemistry.chemical_compound, Cataracts, Intellectual Disability, Ophthalmology, medicine, Humans, Silicone Oils, Child, Retina, business.industry, Retinal Detachment, Retinal detachment, Retinal, medicine.disease, eye diseases, Bilateral Cataracts, Treatment Outcome, medicine.anatomical_structure, chemistry, Female, Bohring–Opitz syndrome, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f13b2bfd66bc24ab85bafc3cbac90602
https://doi.org/10.3928/23258160-20210628-08

المؤلفون: Brian O'Brien, Damian Barry, Kevin MacSweeney, Gordian Barry

المصدر: European Journal of Anaesthesiology. 38:788-790

مصطلحات موضوعية: Anesthesiology and Pain Medicine, business.industry, Medicine, business, Orphan diseases, Bohring–Opitz syndrome, medicine.disease, Bioinformatics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c05bfc7b879c4525d2edb03f5c0ffb22
https://doi.org/10.1097/eja.0000000000001317

المؤلفون: Zhang, Peng, Xing, Caihong, Rhodes, Steven D., He, Yongzheng, Deng, Kai, Li, Zhaomin, He, Fuhong, Zhu, Caiying, Nguyen, Lihn, Zhou, Yuan, Chen, Shi, Mohammad, Khalid S., Guise, Theresa A., Abdel-Wahab, Omar, Xu, Mingjiang, Wang, Qian-Fei, Yang, Feng-Chun

المساهمون: Department of Pediatrics, IU School of Medicine

المصدر: PMC

مصطلحات موضوعية: ASXL1 mutation, Bohring-Opitz syndrome, bone marrow stromal cell, self-renewal and differentiation, skeletal development

وصف الملف: application/pdf

Relation: Stem Cell Reports; Zhang, P., Xing, C., Rhodes, S. D., He, Y., Deng, K., Li, Z., … Yang, F.-C. (2016). Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice. Stem Cell Reports, 6(6), 914–925. http://doi.org/10.1016/j.stemcr.2016.04.013; https://hdl.handle.net/1805/12250

الاتاحة: https://hdl.handle.net/1805/12250

المؤلفون: Roser Urreizti, Daniel Grinberg, Susanna Balcells

المصدر: Expert Opinion on Orphan Drugs. 7:91-94

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Genetic heterogeneity, business.industry, Health Policy, nutritional and metabolic diseases, medicine.disease, medicine, Pharmacology (medical), Bohring–Opitz syndrome, business, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), C syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4d392177b9709650b66c5221db2c0fb1
https://doi.org/10.1080/21678707.2019.1589448

المؤلفون: Vishnu Anand Cuddapah, Elaine H. Zackai, Holly Dubbs, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Daniel J. Licht, Steven L Kugler, Eric D. Marsh, Laura Adang, Xilma R. Ortiz-Gonzalez, Shana E. McCormack, Marni J. Falk

المصدر: Am J Med Genet A

مصطلحات موضوعية: Adult, Male, Microcephaly, Adolescent, Developmental Disabilities, Disease, Bioinformatics, Article, Craniosynostoses, Young Adult, Many core, Intellectual Disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Clinical syndrome, Genetics (clinical), business.industry, Infant, medicine.disease, Phenotype, Hypotonia, Repressor Proteins, Child, Preschool, Mutation, Cohort, Muscle Hypotonia, Female, medicine.symptom, business, Bohring–Opitz syndrome, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cfa068089892d16e10d30ccbaeae3ed
https://doi.org/10.1002/ajmg.a.62156

المؤلفون: Dongyou Liu

المصدر: Handbook of Tumor Syndromes ISBN: 9781351187435
Handbook of Tumor Syndromes

مصطلحات موضوعية: medicine, Bohring–Opitz syndrome, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::61aa65043d411fc199a6cb70d0f5c9b4
https://doi.org/10.1201/9781351187435-27

المؤلفون: Hidehito Inagaki, Satoshi Ibara, Hiroki Kurahashi, Toshiro Ikeda, Takema Kato, Masaya Kibe

المصدر: American Journal of Medical Genetics Part A. 176:1245-1248

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, DNA Copy Number Variations, Exophthalmos, Sedation, Persistent Fetal Circulation Syndrome, Craniosynostoses, 03 medical and health sciences, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Hypertelorism, Alleles, Genetics (clinical), Exome sequencing, Ultrasonography, business.industry, Infant, Newborn, medicine.disease, Radiography, Repressor Proteins, Phenotype, 030104 developmental biology, Amino Acid Substitution, Respiratory failure, Heart failure, Mutation, Cardiology, Female, medicine.symptom, Bohring–Opitz syndrome, business, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf634a30963d0487b46981855713f484
https://doi.org/10.1002/ajmg.a.38681

المؤلفون: Leon E, Diaz J, Castilla-Vallmanya L, Grinberg-Vaisman DR, Balcells S, Urreizti R

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: ASXL1, mild, functional studies, Bohring-Opitz syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::958c8adc84fa1172793b1f6b6a1e97ee
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16820

المؤلفون: Rupesh Shinde, Dipeeka Sawkar, Varsha Phadke, Rahul Shukla, Sujata Kanhere

المصدر: Indian Journal of Case Reports. 4:200-202

مصطلحات موضوعية: Microcephaly, medicine.medical_specialty, business.industry, Genetic disorder, Telecanthus, medicine.disease, Dermatology, Pes planus, Craniosynostosis, medicine, Hypertelorism, medicine.symptom, Sparse hair, business, Bohring–Opitz syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2ddafd98a1de1a26cbb77c4c28aca899
https://doi.org/10.32677/ijcr.2018.v04.i03.010

المؤلفون: Roser Urreizti, Laura Castilla-Vallmanya, Daniel Grinberg, Jullianne Diaz, Eyby Leon, Susanna Balcells

المصدر: American journal of medical genetics. Part AREFERENCES. 182(1)

مصطلحات موضوعية: Microcephaly, Nonsense mutation, Trigonocephaly, Infant mortality, Bioinformatics, Craniosynostoses, Intellectual Disability, Genetics, medicine, Malalties hereditàries, Humans, Genetic Predisposition to Disease, Craniofacial, Child, Genetics (clinical), business.industry, Mutació (Biologia), Mutation (Biology), medicine.disease, Phenotype, Failure to Thrive, Repressor Proteins, Codon, Nonsense, Child, Preschool, Failure to thrive, Mutation, Nevus flammeus, Female, medicine.symptom, Bohring–Opitz syndrome, business, Mortalitat infantil, Genetic diseases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69f9193b22f4f576d5d7a36ffb45c807
https://pubmed.ncbi.nlm.nih.gov/31692235