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Tytuł:
Cellular correlates of selfish spermatogonial selection.
Autorzy:
Maher GJ; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Rajpert-De Meyts E; Department of Growth and Reproduction, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark.
Goriely A; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Wilkie AO; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
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Źródło:
Andrology [Andrology] 2016 May; Vol. 4 (3), pp. 550-3. Date of Electronic Publication: 2016 Apr 26.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Germ-Line Mutation*
Aging/*physiology
Spermatogonia/*physiology
Testis/*physiology
Adult ; Aged ; Aged, 80 and over ; Humans ; Male ; Middle Aged
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Association of mutations in FLNA with craniosynostosis.
Autorzy:
Fennell N; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.
Foulds N; Wessex Clinical Genetics Services, UHS NHS Foundation Trust, Princess Anne Hospital, Southampton, UK.; Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Johnson DS; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Wyatt M; Department of Paediatric Otolaryngology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, Dunedin, New Zealand.
Johnson D; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.
Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.
Wilkie AO; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1684-8. Date of Electronic Publication: 2015 Apr 15.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Craniosynostoses/*genetics
Filamins/*genetics
Child ; Child, Preschool ; Craniosynostoses/diagnosis ; Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Autorzy:
Taylor JC; NIHR Comprehensive Biomedical Research Centre, Oxford, UK.; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Martin HC; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Lise S; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Broxholme J; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Cazier JB; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Rimmer A; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Kanapin A; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Lunter G; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Fiddy S; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Allan C; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Aricescu AR; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Attar M; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Babbs C; MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Becq J; Illumina Cambridge Limited, Saffron Walden, UK.
Beeson D; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Bento C; Hematology Department, Centro Hospitalar e Universitário de Coimbra, Portugal.
Bignell P; Molecular Haematology Department, Oxford University Hospitals NHS Trust, Oxford, UK.
Blair E; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
Buckle VJ; MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Bull K; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Centre for Cellular and Molecular Physiology, University of Oxford, Oxford, UK.
Cais O; Neurobiology Division, MRC Laboratory of Molecular Biology, Cambridge, UK.
Cario H; Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm, Germany.
Chapel H; Primary Immunodeficiency Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Copley RR; NIHR Comprehensive Biomedical Research Centre, Oxford, UK.; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Cornall R; Centre for Cellular and Molecular Physiology, University of Oxford, Oxford, UK.
Craft J; NIHR Comprehensive Biomedical Research Centre, Oxford, UK.; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Dahan K; Centre de Génétique Humaine, Institut de Génétique et de Pathologie, Gosselies, Belgium.; Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Davenport EE; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Dendrou C; MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Devuyst O; Institute of Physiology, Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
Fenwick AL; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Flint J; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Fugger L; MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Gilbert RD; University Hospital Southampton NHS Foundation Trust, University of Southampton, Southampton, UK.
Goriely A; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Green A; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Greger IH; Neurobiology Division, MRC Laboratory of Molecular Biology, Cambridge, UK.
Grocock R; Illumina Cambridge Limited, Saffron Walden, UK.
Gruszczyk AV; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Hastings R; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Hatton E; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Higgs D; MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Hill A; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; The Jenner Institute, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Holmes C; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Department of Statistics, University of Oxford, Oxford, UK.
Howard M; NIHR Comprehensive Biomedical Research Centre, Oxford, UK.; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Hughes L; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Humburg P; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Johnson D; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, Oxford, UK.
Karpe F; Oxford Laboratory for Integrative Physiology, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
Kingsbury Z; Illumina Cambridge Limited, Saffron Walden, UK.
Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
Knight JC; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Krohn J; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Lamble S; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Langman C; Kidney Diseases, Feinberg School of Medicine, Northwestern University and the Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Lonie L; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Luck J; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
McCarthy D; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
McGowan SJ; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
McMullin MF; Centre for Cancer Research and Cell Biology, Queen's University, Belfast, UK.
Miller KA; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Murray L; Illumina Cambridge Limited, Saffron Walden, UK.
Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Nesbit MA; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
Nutt D; Centre for Neuropsychopharmacology, Division of Brain Sciences, Imperial College, London, UK.
Ormondroyd E; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Oturai AB; Danish Multiple Sclerosis Center, Department of Neurology, Copenhagen University Hospital, Copenhagen, Denmark.
Pagnamenta A; NIHR Comprehensive Biomedical Research Centre, Oxford, UK.; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Patel SY; Primary Immunodeficiency Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Percy M; Department of Haematology, Belfast City Hospital, Belfast, UK.
Petousi N; Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Piazza P; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Piret SE; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
Polanco-Echeverry G; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Popitsch N; NIHR Comprehensive Biomedical Research Centre, Oxford, UK.; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Powrie F; Translational Gastroenterology Unit, University of Oxford, Oxford, UK.
Pugh C; Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Quek L; MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Robbins PA; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Robson K; MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Russo A; Department of Pediatrics, University Hospital, Mainz, Germany.
Sahgal N; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
van Schouwenburg PA; Primary Immunodeficiency Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Schuh A; NIHR Comprehensive Biomedical Research Centre, Oxford, UK.; Department of Oncology, University of Oxford, Oxford, UK.
Silverman E; Division of Rheumatology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Simmons A; MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Translational Gastroenterology Unit, University of Oxford, Oxford, UK.
Sørensen PS; Danish Multiple Sclerosis Center, Department of Neurology, Copenhagen University Hospital, Copenhagen, Denmark.
Sweeney E; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
Taylor J; NIHR Comprehensive Biomedical Research Centre, Oxford, UK.; Oxford NHS Regional Molecular Genetics Laboratory, Oxford University Hospitals NHS Trust, Oxford, UK.
Thakker RV; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
Tomlinson I; NIHR Comprehensive Biomedical Research Centre, Oxford, UK.; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Trebes A; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Twigg SR; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Uhlig HH; Translational Gastroenterology Unit, University of Oxford, Oxford, UK.
Vyas P; MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Vyse T; Division of Genetics, King's College London, Guy's Hospital, London, UK.
Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, Oxford, UK.
Watkins H; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Whyte MP; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, Missouri, USA.
Witty L; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Wright B; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Yau C; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Buck D; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Humphray S; Illumina Cambridge Limited, Saffron Walden, UK.
Ratcliffe PJ; Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Bell JI; Office of the Regius Professor of Medicine, University of Oxford, Oxford, UK.
Wilkie AO; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Bentley D; Illumina Cambridge Limited, Saffron Walden, UK.
Donnelly P; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Department of Statistics, University of Oxford, Oxford, UK.
McVean G; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
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Źródło:
Nature genetics [Nat Genet] 2015 Jul; Vol. 47 (7), pp. 717-726. Date of Electronic Publication: 2015 May 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
High-Throughput Nucleotide Sequencing*
Molecular Diagnostic Techniques*
Genetic Diseases, Inborn/*diagnosis
Base Sequence ; DNA Mutational Analysis ; Genetic Diseases, Inborn/genetics ; Genome, Human ; Humans ; Molecular Sequence Annotation ; Polymorphism, Single Nucleotide ; Sensitivity and Specificity
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
Autorzy:
Fenwick AL
Goos JA
Rankin J
Lord H
Lester T
Hoogeboom AJ
van den Ouweland AM
Wall SA
Mathijssen IM
Wilkie AO; Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS, UK. andrew.wilkie@imm.ox.ac.uk.
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Źródło:
BMC medical genetics [BMC Med Genet] 2014 Aug 31; Vol. 15, pp. 95. Date of Electronic Publication: 2014 Aug 31.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amino Acid Substitution*
Craniofacial Dysostosis/*genetics
Craniofacial Dysostosis/*pathology
Craniosynostoses/*genetics
Receptor, Fibroblast Growth Factor, Type 2/*genetics
Craniosynostoses/pathology ; Exons ; Female ; Heterozygote ; Humans ; Male ; Mutation, Missense ; Pedigree ; RNA Splicing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
Autorzy:
van den Elzen ME; Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Twigg SR; Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Goos JA; Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Hoogeboom AJ; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
van den Ouweland AM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Wilkie AO; Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Mathijssen IM; Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Aug; Vol. 22 (8), pp. 995-1001. Date of Electronic Publication: 2013 Nov 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Phenotype*
Craniofacial Abnormalities/*diagnosis
Craniofacial Abnormalities/*genetics
Ephrin-B1/*genetics
Adolescent ; Adult ; Amino Acid Substitution ; Body Weights and Measures ; Child ; Child, Preschool ; Cross-Sectional Studies ; Facies ; Female ; Genetic Association Studies ; Humans ; Infant ; Male ; Skull/abnormalities ; Young Adult
SCR Disease Name:
Craniofrontonasal dysplasia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Cellular evidence for selfish spermatogonial selection in aged human testes.
Autorzy:
Maher GJ; Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Goriely A
Wilkie AO
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Źródło:
Andrology [Andrology] 2014 May; Vol. 2 (3), pp. 304-14. Date of Electronic Publication: 2013 Dec 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
MAP Kinase Signaling System/*genetics
Seminiferous Tubules/*immunology
Spermatogonia/*cytology
Spermatozoa/*cytology
Achondroplasia/genetics ; Acrocephalosyndactylia/genetics ; Aging ; Antigens, Neoplasm/metabolism ; Costello Syndrome/genetics ; Humans ; Male ; Mutation ; Neoplasm Proteins/metabolism ; Paternal Age ; Proto-Oncogene Proteins c-akt/genetics ; Receptor, Fibroblast Growth Factor, Type 3/genetics ; Testis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Autorzy:
Sharma VP; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Fenwick AL
Brockop MS
McGowan SJ
Goos JA
Hoogeboom AJ
Brady AF
Jeelani NO
Lynch SA
Mulliken JB
Murray DJ
Phipps JM
Sweeney E
Tomkins SE
Wilson LC
Bennett S
Cornall RJ
Broxholme J
Kanapin A
Johnson D
Wall SA
van der Spek PJ
Mathijssen IM
Maxson RE
Twigg SR
Wilkie AO
Pokaż więcej
Corporate Authors:
500 Whole-Genome Sequences (WGS500) Consortium
Źródło:
Nature genetics [Nat Genet] 2013 Mar; Vol. 45 (3), pp. 304-7. Date of Electronic Publication: 2013 Jan 27.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Craniosynostoses*/complications
Craniosynostoses*/genetics
Craniosynostoses*/pathology
Basic Helix-Loop-Helix Transcription Factors/*genetics
Nuclear Proteins/*genetics
Twist-Related Protein 1/*genetics
Acrocephalosyndactylia/complications ; Acrocephalosyndactylia/genetics ; Acrocephalosyndactylia/pathology ; Animals ; Cranial Sutures/growth & development ; Cranial Sutures/pathology ; Dimerization ; Exome ; Gene Expression Regulation, Developmental ; Heterozygote ; Humans ; Mice ; Mice, Transgenic ; Molecular Sequence Data ; Mutation ; Sequence Analysis, DNA ; Transcriptional Activation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
Autorzy:
Twigg SR; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Vorgia E
McGowan SJ
Peraki I
Fenwick AL
Sharma VP
Allegra M
Zaragkoulias A
Sadighi Akha E
Knight SJ
Lord H
Lester T
Izatt L
Lampe AK
Mohammed SN
Stewart FJ
Verloes A
Wilson LC
Healy C
Sharpe PT
Hammond P
Hughes J
Taylor S
Johnson D
Wall SA
Mavrothalassitis G
Wilkie AO
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Źródło:
Nature genetics [Nat Genet] 2013 Mar; Vol. 45 (3), pp. 308-13. Date of Electronic Publication: 2013 Jan 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Craniosynostoses*/genetics
Craniosynostoses*/physiopathology
MAP Kinase Signaling System*
Osteogenesis/*genetics
Repressor Proteins/*genetics
Animals ; Core Binding Factor alpha Subunits/metabolism ; Cranial Sutures/growth & development ; Cranial Sutures/metabolism ; Cranial Sutures/pathology ; Embryonic Development/genetics ; Fibroblasts/cytology ; Fibroblasts/metabolism ; Humans ; Mice ; Molecular Sequence Data ; Mutation ; Signal Transduction ; Transcription Factor AP-1/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Autorzy:
Shanks ME; Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Downes SM
Copley RR
Lise S
Broxholme J
Hudspith KA
Kwasniewska A
Davies WI
Hankins MW
Packham ER
Clouston P
Seller A
Wilkie AO
Taylor JC
Ragoussis J
Németh AH
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Mar; Vol. 21 (3), pp. 274-80. Date of Electronic Publication: 2012 Sep 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Retinal Degeneration/*diagnosis
Retinal Degeneration/*genetics
Sequence Analysis, DNA/*methods
Age of Onset ; Humans ; Retinal Degeneration/epidemiology ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/genetics ; Rhodopsin/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
Autorzy:
Justice CM; Genometrics Section, Inherited Disease Research Branch, Division of Intramural Research, National Human Genome Research Institute, US National Institutes of Health (NIH), Baltimore, MD, USA.
Yagnik G
Kim Y
Peter I
Jabs EW
Erazo M
Ye X
Ainehsazan E
Shi L
Cunningham ML
Kimonis V
Roscioli T
Wall SA
Wilkie AO
Stoler J
Richtsmeier JT
Heuzé Y
Sanchez-Lara PA
Buckley MF
Druschel CM
Mills JL
Caggana M
Romitti PA
Kay DM
Senders C
Taub PJ
Klein OD
Boggan J
Zwienenberg-Lee M
Naydenov C
Kim J
Wilson AF
Boyadjiev SA
Pokaż więcej
Źródło:
Nature genetics [Nat Genet] 2012 Dec; Vol. 44 (12), pp. 1360-4. Date of Electronic Publication: 2012 Nov 18.
Typ publikacji:
Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Genetic Loci*
Genetic Predisposition to Disease*
Genome-Wide Association Study*
Bone Morphogenetic Protein 2/*genetics
Craniosynostoses/*genetics
Neoplasm Proteins/*genetics
Cohort Studies ; Cytoskeletal Proteins ; Humans ; Infant, Newborn ; Male ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Sex Factors ; White People/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
Autorzy:
Bendon CL; Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Fenwick AL
Hurst JA
Nürnberg G
Nürnberg P
Wall SA
Wilkie AO
Johnson D
Pokaż więcej
Źródło:
BMC medical genetics [BMC Med Genet] 2012 Nov 09; Vol. 13, pp. 104. Date of Electronic Publication: 2012 Nov 09.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Intracranial Pressure*
Mutation*
Adaptor Proteins, Signal Transducing/*genetics
Craniofacial Abnormalities/*etiology
Craniosynostoses/*etiology
Heart Defects, Congenital/*etiology
Osteochondrodysplasias/*congenital
Craniofacial Abnormalities/diagnosis ; Craniofacial Abnormalities/genetics ; Craniosynostoses/diagnosis ; Craniosynostoses/genetics ; Developmental Disabilities/diagnosis ; Developmental Disabilities/etiology ; Developmental Disabilities/genetics ; Female ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Humans ; Male ; Osteochondrodysplasias/diagnosis ; Osteochondrodysplasias/etiology ; Osteochondrodysplasias/genetics ; Pedigree
SCR Disease Name:
Ter Haar syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men.
Autorzy:
Lim J; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.
Maher GJ
Turner GD
Dudka-Ruszkowska W
Taylor S
Rajpert-De Meyts E
Goriely A
Wilkie AO
Pokaż więcej
Źródło:
PloS one [PLoS One] 2012; Vol. 7 (8), pp. e42382. Date of Electronic Publication: 2012 Aug 06.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Spermatogonia/*cytology
Spermatogonia/*metabolism
Testis/*cytology
Testis/*metabolism
Aged ; Antigens/immunology ; Antigens, Neoplasm/metabolism ; Clone Cells ; Humans ; Image Processing, Computer-Assisted ; Immunohistochemistry ; Male ; Models, Biological ; Mutation/genetics ; Neoplasm Proteins/metabolism ; Seminiferous Tubules/cytology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.
Autorzy:
Fenwick AL; Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
Bowdin SC
Klatt RE
Wilkie AO
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Źródło:
BMC medical genetics [BMC Med Genet] 2011 Sep 23; Vol. 12, pp. 122. Date of Electronic Publication: 2011 Sep 23.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Acrocephalosyndactylia/*genetics
Receptor, Fibroblast Growth Factor, Type 2/*genetics
Alternative Splicing ; Child ; Exons ; Heterozygote ; Humans ; Male ; Mutation, Missense ; Protein Isoforms/genetics ; Recombination, Genetic ; Sequence Analysis, DNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Autorzy:
Hurst JA; Department of Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, Oxford, UK.
Jenkins D
Vasudevan PC
Kirchhoff M
Skovby F
Rieubland C
Gallati S
Rittinger O
Kroisel PM
Johnson D
Biesecker LG
Wilkie AO
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Jul; Vol. 19 (7), pp. 757-62. Date of Electronic Publication: 2011 Feb 16.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Acrocephalosyndactylia/*complications
Acrocephalosyndactylia/*genetics
Craniosynostoses/*complications
Craniosynostoses/*genetics
Kruppel-Like Transcription Factors/*genetics
Mutation/*genetics
Nerve Tissue Proteins/*genetics
Adolescent ; Child ; Child, Preschool ; Female ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Phenotype ; Zinc Finger Protein Gli3
SCR Disease Name:
Greig cephalopolysyndactyly syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Craniosynostosis.
Autorzy:
Johnson D; Oxford Craniofacial Unit, Oxford Radcliffe Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.
Wilkie AO
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Apr; Vol. 19 (4), pp. 369-76. Date of Electronic Publication: 2011 Jan 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Craniosynostoses/*diagnosis
Craniosynostoses/*genetics
Child ; Chromosome Aberrations ; Cranial Sutures ; Craniosynostoses/pathology ; Ephrin-B1/genetics ; Female ; Genetic Counseling ; Humans ; Male ; Mutation/genetics ; Nuclear Proteins/genetics ; Prenatal Diagnosis ; Receptor, Fibroblast Growth Factor, Type 1/genetics ; Receptor, Fibroblast Growth Factor, Type 2/genetics ; Receptor, Fibroblast Growth Factor, Type 3/genetics ; Risk Assessment ; Tomography Scanners, X-Ray Computed ; Twist-Related Protein 1/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Missing heritability: paternal age effect mutations and selfish spermatogonia.
Autorzy:
Goriely A
Wilkie AO
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Źródło:
Nature reviews. Genetics [Nat Rev Genet] 2010 Aug; Vol. 11 (8), pp. 589.
Typ publikacji:
Comment; Letter
MeSH Terms:
Germ-Line Mutation*
Paternal Age*
Spermatogonia/*metabolism
Female ; Genetic Predisposition to Disease ; Humans ; Inheritance Patterns ; Male
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
Autorzy:
Goriely A
Hansen RM
Taylor IB
Olesen IA
Jacobsen GK
McGowan SJ
Pfeifer SP
McVean GA
Rajpert-De Meyts E
Wilkie AO
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Źródło:
Nature genetics [Nat Genet] 2009 Nov; Vol. 41 (11), pp. 1247-52. Date of Electronic Publication: 2009 Oct 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, ras*
Mutation*
Receptor, Fibroblast Growth Factor, Type 3/*genetics
Testicular Diseases/*genetics
Testicular Neoplasms/*genetics
Adult ; Age Distribution ; Aged ; Aged, 80 and over ; Base Sequence ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Receptor, Fibroblast Growth Factor, Type 3/metabolism ; Spermatozoa/metabolism ; Testicular Diseases/congenital ; Testicular Diseases/metabolism ; Testicular Neoplasms/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
Autorzy:
Vasudevan PC; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, South Yorkshire, UK. />Twigg SR
Mulliken JB
Cook JA
Quarrell OW
Wilkie AO
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2006 Jul; Vol. 14 (7), pp. 884-7. Date of Electronic Publication: 2006 Apr 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Craniofacial Abnormalities/*genetics
Ephrin-B1/*genetics
Hernia, Diaphragmatic/*genetics
Abnormalities, Multiple/genetics ; Child, Preschool ; Female ; Genetic Diseases, X-Linked/genetics ; Hernias, Diaphragmatic, Congenital ; Humans ; Infant, Newborn ; Male ; Phenotype ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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