المؤلفون: Nesic K; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Krais JJ; Nuclear Dynamics Program, Fox Chase Cancer Center, Philadelphia, PA, USA.; Department of Medicine Division of Oncology, Washington University School of Medicine, St Louis, MO, USA., Wang Y; Nuclear Dynamics Program, Fox Chase Cancer Center, Philadelphia, PA, USA., Vandenberg CJ; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Patel P; Nuclear Dynamics Program, Fox Chase Cancer Center, Philadelphia, PA, USA., Cai KQ; Nuclear Dynamics Program, Fox Chase Cancer Center, Philadelphia, PA, USA., Kwan T; Clovis Oncology Inc., San Francisco, CA, USA., Lieschke E; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Ho GY; School of Clinical Sciences, Monash University, Clayton, VIC, Australia., Barker HE; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Bedo J; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Casadei S; University of Washington, Seattle, WA, USA., Farrell A; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Radke M; University of Washington, Seattle, WA, USA., Shield-Artin K; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Penington JS; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Geissler F; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Kyran E; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Betsch R; Nuclear Dynamics Program, Fox Chase Cancer Center, Philadelphia, PA, USA., Xu L; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; The University of Queensland, Brisbane, QLD, Australia., Zhang F; Department of Surgery, University of Melbourne, Austin Health, Heidelberg, VIC, Australia., Dobrovic A; Department of Surgery, University of Melbourne, Austin Health, Heidelberg, VIC, Australia., Olesen I; The Andrew Love Cancer Centre, Barwon Health, Geelong, VIC, Australia., Kristeleit R; Department of Oncology, Guys and St Thomas' NHS Foundation Trust, London, UK.; National Institute for Health Research, University College London Hospitals Clinical Research Facility, London, UK., Oza A; Princess Margaret Cancer Center, Toronto, ON, Canada., McNeish I; Division of Cancer, Department of Surgery & Cancer, Imperial College London, London, UK., Ratnayake G; Royal Women's Hospital, Parkville, VIC, Australia., Traficante N; Sir Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Department of Oncology, Sir Peter MacCallum, University of Melbourne, Parkville, VIC, Australia., DeFazio A; The Daffodil Centre, The University of Sydney, a joint venture with Cancer Council New South Wales, Sydney, NSW, Australia.; The Westmead Institute for Medical Research, Sydney, NSW, Australia.; Department of Gynecological Oncology, Westmead Hospital, Western Sydney Local Health District, New South Wales, Australia., Bowtell DDL; Sir Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Department of Oncology, Sir Peter MacCallum, University of Melbourne, Parkville, VIC, Australia., Harding TC; Clovis Oncology Inc., San Francisco, CA, USA., Lin K; Clovis Oncology Inc., San Francisco, CA, USA., Swisher EM; University of Washington, Seattle, WA, USA., Kondrashova O; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; The University of Queensland, Brisbane, QLD, Australia., Scott CL; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia. scottc@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia. scottc@wehi.edu.au.; Royal Women's Hospital, Parkville, VIC, Australia. scottc@wehi.edu.au.; Sir Peter MacCallum Cancer Centre, Melbourne, VIC, Australia. scottc@wehi.edu.au.; Department of Oncology, Sir Peter MacCallum, University of Melbourne, Parkville, VIC, Australia. scottc@wehi.edu.au.; Department of Obstetrics, Gynecology and Newborn Health, University of Melbourne, Parkville, VIC, Australia. scottc@wehi.edu.au., Johnson N; Nuclear Dynamics Program, Fox Chase Cancer Center, Philadelphia, PA, USA. Neil.Johnson@fccc.edu., Wakefield MJ; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia. matthew.wakefield@unimelb.edu.au.; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia. matthew.wakefield@unimelb.edu.au.; Department of Obstetrics, Gynecology and Newborn Health, University of Melbourne, Parkville, VIC, Australia. matthew.wakefield@unimelb.edu.au.

مؤلفون مشاركون: Australian Ovarian Cancer Study

المصدر: Molecular cancer [Mol Cancer] 2024 Aug 05; Vol. 23 (1), pp. 158. Date of Electronic Publication: 2024 Aug 05.

نوع المنشور: Letter; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101147698 Publication Model: Electronic Cited Medium: Internet ISSN: 1476-4598 (Electronic) Linking ISSN: 14764598 NLM ISO Abbreviation: Mol Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Poly(ADP-ribose) Polymerase Inhibitors*/pharmacology , Poly(ADP-ribose) Polymerase Inhibitors*/therapeutic use , Exons* , Drug Resistance, Neoplasm*/genetics , BRCA1 Protein*/genetics , Ovarian Neoplasms*/genetics , Ovarian Neoplasms*/drug therapy , Ovarian Neoplasms*/pathology , RNA Splice Sites*, Humans ; Female ; Animals ; Mice ; Mutation ; Breast Neoplasms/genetics ; Breast Neoplasms/drug therapy ; Breast Neoplasms/pathology ; Xenograft Model Antitumor Assays ; Cell Line, Tumor

المؤلفون: Zhang C; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China., Qiao F; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China., Cheng Q; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China., Luo C; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China., Zhang Q; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China., Hu P; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China. njfybjyhuping@163.com., Xu Z; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, 210004, China. zhengfeng_xu_nj@163.com.

المصدر: Biochemical genetics [Biochem Genet] 2024 Aug; Vol. 62 (4), pp. 2495-2503. Date of Electronic Publication: 2023 Nov 14.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4927 (Electronic) Linking ISSN: 00062928 NLM ISO Abbreviation: Biochem Genet Subsets: MEDLINE

مواضيع طبية MeSH: Fibrillin-2*/genetics , Arachnodactyly*/genetics , Contracture*/genetics , RNA Splice Sites* , Pedigree*, Humans ; Male ; Female ; Asian People/genetics ; Mutation ; Exome Sequencing ; China ; Adult ; East Asian People

SCR Disease Name: Congenital contractural arachnodactyly

المؤلفون: Oh RY; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada; Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada., AlMail A; Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada., Cheerie D; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Guirguis G; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Hou H; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada., Yuki KE; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada., Haque B; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Thiruvahindrapuram B; The Centre for Applied Genomics, SickKids Research Institute, Toronto, ON, Canada., Marshall CR; Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Paediatrics, University of Toronto, Toronto, ON, Canada., Shlien A; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Kyriakopoulou LG; Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Walker S; The Centre for Applied Genomics, SickKids Research Institute, Toronto, ON, Canada., Dowling JJ; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Department of Paediatrics, University of Toronto, Toronto, ON, Canada; Division of Neurology, Hospital for Sick Children, Toronto, ON, Canada., Wilson MD; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Costain G; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Department of Paediatrics, University of Toronto, Toronto, ON, Canada. Electronic address: gregory.costain@sickkids.ca.

المصدر: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100299. Date of Electronic Publication: 2024 Apr 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

مواضيع طبية MeSH: RNA Splice Sites*/genetics , RNA Splicing*/genetics , Computer Simulation*, Humans ; Computational Biology/methods ; Exons/genetics ; Genetic Variation/genetics

المؤلفون: Sha M; Department of Software Engineering, College of Computer Engineering and Sciences, Prince Sattam bin Abdulaziz University, Al Kharj 11942, Kingdom of Saudi Arabia. Electronic address: ms.mohamed@psau.edu.sa., Parveen Rahamathulla M; Department of Basic Medical Sciences, College of Medicine, Prince Sattam bin Abdulaziz University, Al Kharj 11942, Kingdom of Saudi Arabia. Electronic address: m.parveen@psau.edu.sa.

المصدر: Gene [Gene] 2024 Jul 15; Vol. 915, pp. 148429. Date of Electronic Publication: 2024 Apr 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Exons*/genetics , Introns*/genetics , RNA Splice Sites*, Humans ; Computational Biology/methods ; RNA Splicing ; Autism Spectrum Disorder/genetics ; Algorithms ; Deep Learning

المؤلفون: Ali M; Department of Computer Science, Bacha Khan University, Charsadda, KP, Pakistan., Shah D; Department of Computer Science, Bacha Khan University, Charsadda, KP, Pakistan., Qazi S; Department of Computer Science, Bacha Khan University, Charsadda, KP, Pakistan., Khan IA; Department of Computer Science, Bacha Khan University, Charsadda, KP, Pakistan., Abrar M; Faculty of Computer Science, Arab Open University, Muscat, Oman, Sultanate of Oman., Zahir S; Institute of Computer Sciences and Information Technology, The University of Agriculture Peshawar, Peshawar, KP, Pakistan.

المصدر: Science progress [Sci Prog] 2024 Jul-Sep; Vol. 107 (3), pp. 368504241266588.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: SAGE Publications Country of Publication: England NLM ID: 0411361 Publication Model: Print Cited Medium: Internet ISSN: 2047-7163 (Electronic) Linking ISSN: 00368504 NLM ISO Abbreviation: Sci Prog Subsets: MEDLINE

مواضيع طبية MeSH: Deep Learning* , RNA Splice Sites*/genetics , Neural Networks, Computer*, Humans ; RNA Splicing ; Introns/genetics ; RNA, Messenger/genetics ; Algorithms ; Gene Expression ; Computational Biology/methods ; Exons/genetics

المؤلفون: Schwartzmann S; Charité-Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany., Zhao M; Charité-Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany., Sczakiel HL; Charité-Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany.; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, Berlin, Germany., Hildebrand G; Charité-Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany., Ehmke N; Charité-Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany., Horn D; Charité-Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany., Mensah MA; Charité-Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany.; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Digital Clinician Scientist Program, Berlin, Germany., Boschann F; Charité-Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany.; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité, Clinician Scientist Program, Berlin, Germany.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63599. Date of Electronic Publication: 2024 Mar 22.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Guanine Nucleotide Exchange Factors*/genetics , Phenotype* , RNA Splice Sites*/genetics , Pedigree*, Humans ; Male ; Female ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Microcephaly/genetics ; Microcephaly/pathology ; Child ; Child, Preschool ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Exons/genetics ; RNA Splicing/genetics ; Facies ; Protein Serine-Threonine Kinases

المؤلفون: Nishino M; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Tanaka M; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Imagawa K; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan., Yaita K; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Enokizono T; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Ohto T; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan., Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Yamada M; Center for Medical Genetics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Takada H; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63575. Date of Electronic Publication: 2024 Feb 26.

نوع المنشور: Case Reports; Journal Article; 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: WW Domain-Containing Oxidoreductase*/genetics , Spasms, Infantile*/genetics , Spasms, Infantile*/drug therapy , Spasms, Infantile*/pathology , Uniparental Disomy*/genetics , Uniparental Disomy*/pathology , RNA Splice Sites*/genetics , Mutation*/genetics, Humans ; Female ; Infant ; Phenotype ; Exome Sequencing ; Electroencephalography ; Tumor Suppressor Proteins

SCR Disease Name: Infantile Epileptic-Dyskinetic Encephalopathy

المؤلفون: Kramárek M; Centre for Cardiovascular Surgery and Transplantation, 656 91 Brno, Czech Republic.; Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.; National Centre for Biomolecular Research, Faculty of Science, Masaryk University, 62500 Brno, Czech Republic., Souček P; Centre for Cardiovascular Surgery and Transplantation, 656 91 Brno, Czech Republic.; Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic., Réblová K; Centre of Molecular Biology and Genetics, University Hospital and Masaryk University, Brno, Czech Republic., Grodecká LK; Centre for Cardiovascular Surgery and Transplantation, 656 91 Brno, Czech Republic., Freiberger T; Centre for Cardiovascular Surgery and Transplantation, 656 91 Brno, Czech Republic.; Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.

المصدر: Nucleic acids research [Nucleic Acids Res] 2024 Jun 10; Vol. 52 (10), pp. 5959-5974.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: RNA, Small Nuclear*/metabolism , RNA, Small Nuclear*/genetics , STAT3 Transcription Factor*/metabolism , STAT3 Transcription Factor*/genetics , RNA Splice Sites* , Exons*, Humans ; Binding Sites/genetics ; RNA Splicing ; Protein Binding ; Base Sequence ; HeLa Cells

المؤلفون: D'Incal CP; Cognitive Genetics (CONGET), Centre for Medical Genetics (CMG), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium Department of Medical Genetics, Antwerp, Belgium.; Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Annear DJ; Cognitive Genetics (CONGET), Centre for Medical Genetics (CMG), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium Department of Medical Genetics, Antwerp, Belgium., Elinck E; Cognitive Genetics (CONGET), Centre for Medical Genetics (CMG), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium Department of Medical Genetics, Antwerp, Belgium., van der Smagt JJ; Division of Laboratories, Pharmacy and Biomedical Genetics, Section Clinical Genetics, University Medical Center Utrecht, the Netherlands and Rijksuniversiteit Utrecht, Utrecht, the Netherlands., Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Artificial Intelligence, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Mateiu L; Cognitive Genetics (CONGET), Centre for Medical Genetics (CMG), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium Department of Medical Genetics, Antwerp, Belgium., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Vanden Berghe W; Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. wim.vandenberghe@uantwerpen.be., Kooy RF; Cognitive Genetics (CONGET), Centre for Medical Genetics (CMG), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium Department of Medical Genetics, Antwerp, Belgium. frank.kooy@uantwerpen.be.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jun; Vol. 32 (6), pp. 630-638. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Nerve Tissue Proteins*/genetics , Nerve Tissue Proteins*/metabolism , RNA Splice Sites*, Humans ; Female ; Child, Preschool ; HEK293 Cells ; Loss of Function Mutation ; DNA Methylation ; Homeodomain Proteins/genetics ; Homeodomain Proteins/metabolism ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Autistic Disorder/genetics ; Autistic Disorder/pathology ; Autism Spectrum Disorder ; Heart Diseases ; Facies ; Neurodevelopmental Disorders

المؤلفون: Fraga G; Pediatric Nephrology Department, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau (IR Sant Pau), RICORS-SAMID, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., Herreros MA; Nephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., Pybus M; Molecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), 08193 Barcelona, Catalonia, Spain., Aza-Carmona M; Molecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), 08193 Barcelona, Catalonia, Spain., Pilco-Teran M; Nephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., Furlano M; Nephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., García-Borau MJ; Neonatology Unit, Pediatrics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., Torra R; Nephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain., Ars E; Molecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), 08193 Barcelona, Catalonia, Spain.

المصدر: Genes [Genes (Basel)] 2024 May 24; Vol. 15 (6). Date of Electronic Publication: 2024 May 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: PHEX Phosphate Regulating Neutral Endopeptidase*/genetics , Familial Hypophosphatemic Rickets*/genetics , Pedigree* , RNA Splice Sites*/genetics, Humans ; Adult ; Female ; Male ; RNA Splicing/genetics ; Phenotype ; Genetic Diseases, X-Linked/genetics ; Mutation