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Wyszukujesz frazę ""Chandler KE"" wg kryterium: Autor


Wyświetlanie 1-9 z 9
Tytuł :
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Autorzy :
Yates TM; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Vasudevan PC; Department of Clinical Genetics, University Hospitals of Leicester, Leicester, UK.
Chandler KE; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland, UK.
Donnelly DE; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester, UK.
Stark Z; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Sadedin S; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Willoughby J; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
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Corporate Authors :
Broad Center for Mendelian Genomics; Broad Center for Mendelian Genomics, Cambridge, Massachusetts.
DDD study; DDD Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Nov; Vol. 173 (11), pp. 3003-3012. Date of Electronic Publication: 2017 Sep 25.
Typ publikacji :
Journal Article
MeSH Terms :
Developmental Disabilities/*genetics
Heterogeneous-Nuclear Ribonucleoprotein U/*genetics
Intellectual Disability/*genetics
Neurodevelopmental Disorders/*genetics
Seizures/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Developmental Disabilities/physiopathology ; Exome ; Female ; Genetic Predisposition to Disease ; Haploinsufficiency/genetics ; Heterozygote ; Humans ; Infant ; Intellectual Disability/physiopathology ; Male ; Mutation ; Neurodevelopmental Disorders/physiopathology ; Phenotype ; Seizures/physiopathology ; Young Adult
Czasopismo naukowe
Tytuł :
Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.
Autorzy :
Briggs TA; Manchester Centre for Genomic Medicine, St. Mary's Hospital, University of Manchester, Manchester, United Kingdom.
Lokulo-Sodipe K; Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
Chandler KE; Manchester Centre for Genomic Medicine, St. Mary's Hospital, University of Manchester, Manchester, United Kingdom.
Mackay DJ; Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Temple IK; Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2016 Jan; Vol. 170A (1), pp. 170-5. Date of Electronic Publication: 2015 Sep 23.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 14/*genetics
DNA Methylation/*genetics
Genomic Imprinting/*genetics
Intercellular Signaling Peptides and Proteins/*genetics
Membrane Proteins/*genetics
RNA, Long Noncoding/*genetics
Uniparental Disomy/*genetics
Abnormalities, Multiple/genetics ; Adolescent ; Calcium-Binding Proteins ; Developmental Disabilities/genetics ; Female ; Humans ; Phenotype ; Uniparental Disomy/pathology
Czasopismo naukowe
Tytuł :
CRTAP mutation in a patient with Cole-Carpenter syndrome.
Autorzy :
Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK.
Pollitt RC
Chandler KE
Mughal MZ
Parker MJ
Dalton A
Arundel P
Offiah AC
Bishop NJ
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Mar; Vol. 167A (3), pp. 587-91. Date of Electronic Publication: 2015 Jan 21.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Craniosynostoses/*diagnosis
Craniosynostoses/*genetics
Extracellular Matrix Proteins/*genetics
Eye Abnormalities/*diagnosis
Eye Abnormalities/*genetics
Hydrocephalus/*diagnosis
Hydrocephalus/*genetics
Osteogenesis Imperfecta/*diagnosis
Osteogenesis Imperfecta/*genetics
Bone and Bones/abnormalities ; Bone and Bones/diagnostic imaging ; Child ; Facies ; Female ; Genetic Association Studies ; Homozygote ; Humans ; Molecular Chaperones ; Phenotype ; Radiography ; Sequence Analysis, DNA
SCR Disease Name :
Cole Carpenter syndrome
Czasopismo naukowe
Tytuł :
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Autorzy :
Crow YJ; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
Chase DS
Lowenstein Schmidt J
Szynkiewicz M
Forte GM
Gornall HL
Oojageer A
Anderson B
Pizzino A
Helman G
Abdel-Hamid MS
Abdel-Salam GM
Ackroyd S
Aeby A
Agosta G
Albin C
Allon-Shalev S
Arellano M
Ariaudo G
Aswani V
Babul-Hirji R
Baildam EM
Bahi-Buisson N
Bailey KM
Barnerias C
Barth M
Battini R
Beresford MW
Bernard G
Bianchi M
Billette de Villemeur T
Blair EM
Bloom M
Burlina AB
Carpanelli ML
Carvalho DR
Castro-Gago M
Cavallini A
Cereda C
Chandler KE
Chitayat DA
Collins AE
Sierra Corcoles C
Cordeiro NJ
Crichiutti G
Dabydeen L
Dale RC
D'Arrigo S
De Goede CG
De Laet C
De Waele LM
Denzler I
Desguerre I
Devriendt K
Di Rocco M
Fahey MC
Fazzi E
Ferrie CD
Figueiredo A
Gener B
Goizet C
Gowrinathan NR
Gowrishankar K
Hanrahan D
Isidor B
Kara B
Khan N
King MD
Kirk EP
Kumar R
Lagae L
Landrieu P
Lauffer H
Laugel V
La Piana R
Lim MJ
Lin JP
Linnankivi T
Mackay MT
Marom DR
Marques Lourenço C
McKee SA
Moroni I
Morton JE
Moutard ML
Murray K
Nabbout R
Nampoothiri S
Nunez-Enamorado N
Oades PJ
Olivieri I
Ostergaard JR
Pérez-Dueñas B
Prendiville JS
Ramesh V
Rasmussen M
Régal L
Ricci F
Rio M
Rodriguez D
Roubertie A
Salvatici E
Segers KA
Sinha GP
Soler D
Spiegel R
Stödberg TI
Straussberg R
Swoboda KJ
Suri M
Tacke U
Tan TY
te Water Naude J
Wee Teik K
Thomas MM
Till M
Tonduti D
Valente EM
Van Coster RN
van der Knaap MS
Vassallo G
Vijzelaar R
Vogt J
Wallace GB
Wassmer E
Webb HJ
Whitehouse WP
Whitney RN
Zaki MS
Zuberi SM
Livingston JH
Rozenberg F
Lebon P
Vanderver A
Orcesi S
Rice GI
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Feb; Vol. 167A (2), pp. 296-312. Date of Electronic Publication: 2015 Jan 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Phenotype*
Adenosine Deaminase/*genetics
Autoimmune Diseases of the Nervous System/*diagnosis
Autoimmune Diseases of the Nervous System/*genetics
DEAD-box RNA Helicases/*genetics
Exodeoxyribonucleases/*genetics
Monomeric GTP-Binding Proteins/*genetics
Nervous System Malformations/*diagnosis
Nervous System Malformations/*genetics
Phosphoproteins/*genetics
Ribonuclease H/*genetics
Genetic Association Studies ; Genotype ; Humans ; Interferon-Induced Helicase, IFIH1 ; Interferons/blood ; Interferons/cerebrospinal fluid ; Pterins/cerebrospinal fluid ; SAM Domain and HD Domain-Containing Protein 1
SCR Disease Name :
Aicardi-Goutieres syndrome
Czasopismo naukowe
Tytuł :
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Autorzy :
Keppler-Noreuil KM; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Sapp JC
Lindhurst MJ
Parker VE
Blumhorst C
Darling T
Tosi LL
Huson SM
Whitehouse RW
Jakkula E
Grant I
Balasubramanian M
Chandler KE
Fraser JL
Gucev Z
Crow YJ
Brennan LM
Clark R
Sellars EA
Pena LD
Krishnamurty V
Shuen A
Braverman N
Cunningham ML
Sutton VR
Tasic V
Graham JM Jr
Geer J Jr
Henderson A
Semple RK
Biesecker LG
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2014 Jul; Vol. 164A (7), pp. 1713-33. Date of Electronic Publication: 2014 Apr 29.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*
Phenotype*
Phosphatidylinositol 3-Kinases/*genetics
Adipose Tissue/pathology ; Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Class I Phosphatidylinositol 3-Kinases ; Female ; Genotype ; Humans ; Hyperplasia/diagnosis ; Hyperplasia/genetics ; Infant ; Infant, Newborn ; Lipoma/diagnosis ; Lipoma/genetics ; Male ; Middle Aged ; Musculoskeletal Abnormalities/diagnosis ; Musculoskeletal Abnormalities/genetics ; Mutation ; Nevus/diagnosis ; Nevus/genetics ; Organ Specificity/genetics ; Vascular Malformations/diagnosis ; Vascular Malformations/genetics ; Young Adult
SCR Disease Name :
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Hemihyperplasia, Isolated
Czasopismo naukowe
Tytuł :
Cerebellar hypoplasia and Cohen syndrome: a confirmed association.
Autorzy :
Waite A; The School of Biomedicine, Faculty of Medical and Human Sciences, School of Medicine, University of Manchester, Manchester, UK.
Somer M
O'Driscoll M
Millen K
Manson FD
Chandler KE
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2010 Sep; Vol. 152A (9), pp. 2390-3.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cerebellum/*abnormalities
Brain/pathology ; Cerebellar Diseases ; Cerebellum/pathology ; Child ; DNA Mutational Analysis ; Developmental Disabilities/diagnosis ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Fingers/abnormalities ; Fingers/pathology ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Magnetic Resonance Imaging ; Male ; Microcephaly/diagnosis ; Microcephaly/genetics ; Microcephaly/pathology ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Muscle Hypotonia/pathology ; Myopia/diagnosis ; Myopia/genetics ; Myopia/pathology ; Obesity/diagnosis ; Obesity/genetics ; Obesity/pathology ; Retinal Degeneration
SCR Disease Name :
Cohen syndrome
Czasopismo naukowe
    Wyświetlanie 1-9 z 9

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