نتائج البحث - "Fenwick, AL"

المؤلفون: Vogiatzi A; Medical School, University of Crete, 71003 Heraklion, Crete, Greece.; IMBB, FORTH, 71003 Heraklion, Crete, Greece., Keklikoglou K; Institute of Marine Biology, Biotechnology and Aquaculture (IMBBC), Hellenic Centre for Marine Research (HCMR), P.O. Box 2214, 71003 Heraklion, Crete, Greece.; Biology Department, University of Crete, 71003 Heraklion, Crete, Greece., Makris K; Medical School, University of Crete, 71003 Heraklion, Crete, Greece., Argyrou DS; Medical School, University of Crete, 71003 Heraklion, Crete, Greece., Zacharopoulos A; IESL, FORTH, 71003 Heraklion, Crete, Greece., Sotiropoulou V; IESL, FORTH, 71003 Heraklion, Crete, Greece., Parthenios N; ICE-HT, FORTH, 26504 Patras, Peloponissos, Greece., Gkikas A; Medical School, University of Crete, 71003 Heraklion, Crete, Greece., Kokkori M; Medical School, University of Crete, 71003 Heraklion, Crete, Greece., Richardson MSW; Department of Chemistry, University of Oxford, Chemistry Research Laboratory, Mansfield Road, Oxford OX1 3TA, UK., Fenwick AL; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK., Archontidi S; Medical School, University of Crete, 71003 Heraklion, Crete, Greece., Arvanitidis C; Institute of Marine Biology, Biotechnology and Aquaculture (IMBBC), Hellenic Centre for Marine Research (HCMR), P.O. Box 2214, 71003 Heraklion, Crete, Greece.; LifeWatch ERIC, Sector II-II, Plaza de España, 41071 Seville, Spain., Robertson J; Department of Chemistry, University of Oxford, Chemistry Research Laboratory, Mansfield Road, Oxford OX1 3TA, UK., Parthenios J; ICE-HT, FORTH, 26504 Patras, Peloponissos, Greece., Zacharakis G; IESL, FORTH, 71003 Heraklion, Crete, Greece., Twigg SRF; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK., Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK., Mavrothalassitis G; Medical School, University of Crete, 71003 Heraklion, Crete, Greece.; IMBB, FORTH, 71003 Heraklion, Crete, Greece.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Apr 27; Vol. 24 (9). Date of Electronic Publication: 2023 Apr 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Craniosynostoses*/drug therapy , Craniosynostoses*/genetics , Transcription Factors*, Animals ; Mice ; MAP Kinase Signaling System ; Phosphorylation ; Repressor Proteins ; Skull

Find this article in full text from ProQuest

Full Text Finder

8

دورية أكاديمية

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

المؤلفون: Glass GE; Department of Surgery, Sidra Medicine, Doha, Qatar.; Division of Clinical Surgery, Weill Cornell Medical College, Doha, Qatar., O'Hara J; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom., Canham N; North West Thames Regional Genetics Service, Kennedy Galton Centre, Northwick Park and St. Mark's Hospitals, Harrow, United Kingdom., Cilliers D; Clinical Genetics Service, Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Nuffield Orthopedic Centre, Oxford, United Kingdom., Dunaway D; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom., Fenwick AL; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom., Jeelani NO; Department of Surgery, Sidra Medicine, Doha, Qatar.; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom., Johnson D; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom., Lester T; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, United Kingdom., Lord H; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, United Kingdom., Morton JEV; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom.; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals, NHS Foundation Trust, Birmingham, United Kingdom., Nishikawa H; Department of Craniofacial Surgery, Birmingham Children's Hospital, Birmingham, United Kingdom., Noons P; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom.; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals, NHS Foundation Trust, Birmingham, United Kingdom., Schwiebert K; Department of Clinical & Academic Ophthalmology, Great Ormond Street Hospital, London, United Kingdom., Shipster C; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom., Taylor-Beadling A; Molecular Genetics Laboratory, North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, United Kingdom., Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Glenfield Hospital, Leicester, United Kingdom., Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom., Wilkie AOM; Clinical Genetics Service, Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Nuffield Orthopedic Centre, Oxford, United Kingdom.; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom., Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital, London, United Kingdom.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Apr; Vol. 179 (4), pp. 615-627. Date of Electronic Publication: 2019 Feb 13.

نوع المنشور: 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: Mutation*, Craniosynostoses/*genetics , Craniosynostoses/*pathology , Repressor Proteins/*genetics, Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Phenotype ; Syndrome ; Young Adult

View record at Wiley

9

دورية أكاديمية

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

المؤلفون: Zhou Y; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Koelling N; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Fenwick AL; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., McGowan SJ; Analysis, Visualisation and Informatics Group, MRC WIMM Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, University of Oxford, Oxford, UK., Smithson SF; Department of Clinical Genetics, St Michaels Hospital & School of Clinical Sciences, University of Bristol, Bristol, UK., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, University of Oxford, Oxford, UK., Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

المصدر: Human mutation [Hum Mutat] 2018 Oct; Vol. 39 (10), pp. 1360-1365. Date of Electronic Publication: 2018 Aug 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat

مواضيع طبية MeSH: 5' Untranslated Regions* , Genetic Variation* , Protein Biosynthesis*, Acrocephalosyndactylia/*genetics , Nuclear Proteins/*genetics , Twist-Related Protein 1/*genetics, Acrocephalosyndactylia/diagnosis ; Alleles ; Base Sequence ; DNA Mutational Analysis ; Databases, Genetic ; Female ; Genetic Association Studies ; Genotype ; Haploinsufficiency ; Humans ; Male ; Mutation ; Nucleotide Motifs ; Pedigree ; Phenotype

View record at Wiley

Full Text Finder

10

دورية أكاديمية

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

المؤلفون: Kim S; Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Scanlon VA; Department of Biology, The Catholic University of America, Washington, DC 20064, USA., Chandra A; Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Hansen TJ; Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Alsubait A; Department of Biology, The Catholic University of America, Washington, DC 20064, USA., Fenwick AL; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., McGowan SJ; Computational Biology Research Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Lord H; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford OX3 7LE, UK., Lester T; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford OX3 7LE, UK., Sweeney E; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool L8 7SS, UK., Weber A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool L8 7SS, UK., Cox H; Clinical Genetics Unit, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham B15 2TG, UK., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Golden A; Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Corsi AK; Department of Biology, The Catholic University of America, Washington, DC 20064, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2017 Jun 01; Vol. 26 (11), pp. 2118-2132.

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

SCR Disease Name: Ablepharon macrostomia syndrome

Full Text Finder

تنقيح النتائج