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Wyszukujesz frazę ""Woolf, Adrian S."" wg kryterium: Autor


Wyświetlanie 1-100 z 100
Tytuł:
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
Autorzy:
Mingardo, EnricoAff1, Aff2, Aff3, IDs42003022040923_cor1
Beaman, Glenda
Grote, PhilipAff5, Aff6
Nordenskjöld, AgnetaAff7, Aff8
Newman, William
Woolf, Adrian S.Aff9, Aff10
Eckstein, MarkusAff11, Aff12, Aff13
Hilger, Alina C.Aff3, Aff14
Dworschak, Gabriel C.Aff1, Aff3
Rösch, Wolfgang
Ebert, Anne-Karolin
Stein, Raimund
Brusco, Alfredo
Di Grazia, Massimo
Tamer, Ali
Torres, Federico M.
Hernandez, Jose L.
Erben, PhilippAff13, Aff22
Maj, Carlo
Olmos, Jose M.
Riancho, Jose A.
Valero, Carmen
Hostettler, Isabel C.Aff25, Aff26, Aff27
Houlden, Henry
Werring, David J.
Schumacher, Johannes
Gehlen, Jan
Giel, Ann-Sophie
Buerfent, Benedikt C.
Arkani, SamaraAff31, Aff32
Åkesson, ElisabethAff33, Aff34
Rotstein, Emilia
Ludwig, Michael
Holmdahl, Gundela
Giorgio, ElisaAff38, Aff39
Berettini, Alfredo
Keene, David
Cervellione, Raimondo M.
Younsi, Nina
Ortlieb, Melissa
Oswald, Josef
Haid, BernhardAff17, Aff42
Promm, Martin
Neissner, Claudia
Hirsch, Karin
Stehr, Maximilian
Schäfer, Frank-MattiasAff44, Aff45
Schmiedeke, Eberhard
Boemers, Thomas M.
van Rooij, Iris A. L. M.
Feitz, Wouter F. J.
Marcelis, Carlo L. M.
Lacher, Martin
Nelson, Jana
Ure, Benno
Fortmann, Caroline
Gale, Daniel P.
Chan, Melanie M. Y.
Ludwig, Kerstin U.
Nöthen, Markus M.
Heilmann, StefanieAff3, Aff54
Zwink, Nadine
Jenetzky, EkkehartAff55, Aff56
Odermatt, BenjaminAff1, Aff2
Knapp, Michael
Reutter, HeikoAff3, Aff58, IDs42003022040923_cor66
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Źródło:
Communications Biology. 5(1)
Czasopismo naukowe
Tytuł:
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations
Autorzy:
Madhu, Rajesh
Beaman, Glenda M.
Chandler, Kate E.
O'Sullivan, James
Urquhart, Jill E.
Khan, Naz
Martindale, Elizabeth
Briggs, Tracy A.
Clayton-Smith, Jill
Higgs, Jenny
Batra, Gauri
Kerr, Bronwyn
Woolf, Adrian S.
Newman, William G.
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Źródło:
In European Journal of Medical Genetics September 2020 63(9)
Czasopismo naukowe
Tytuł:
Experimental long-term diabetes mellitus alters the transcriptome and biomechanical properties of the rat urinary bladder
Autorzy:
Hindi, Emad A.Aff1, Aff5
Williams, Craig J.
Zeef, Leo A. H.
Lopes, Filipa M.
Newman, Katie
Davey, Martha M. M.
Hodson, Nigel W.
Hilton, Emma N.
Huang, Jennifer L.
Price, Karen L.
Roberts, Neil A.
Long, David A.
Woolf, Adrian S.Aff1, Aff4
Gardiner, Natalie J.
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Źródło:
Scientific Reports. 11(1)
Czasopismo naukowe
Tytuł:
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease
Autorzy:
Lennon, Rachel
Stuart, Helen M.
Bierzynska, Agnieszka
Randles, Michael J.
Kerr, Bronwyn
Hillman, Katherine A.
Batra, Gauri
Campbell, Joanna
Storey, Helen
Flinter, Frances A.
Koziell, Ania
Welsh, Gavin I.
Saleem, Moin A.
Webb, Nicholas J. A.
Woolf, Adrian S.
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Źródło:
Pediatric Nephrology: Journal of the InternationalPediatric Nephrology Association. September 2015 30(9):1459-1465
Czasopismo naukowe
Tytuł:
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
Autorzy:
Stegmann, Jil D.Aff1, Aff2, IDs41525024003989_cor1
Kalanithy, Jeshurun C.Aff1, Aff3
Dworschak, Gabriel C.Aff1, Aff3, Aff4
Ishorst, NinaAff1, Aff3
Mingardo, Enrico
Lopes, Filipa M.
Ho, Yee Mang
Grote, Phillip
Lindenberg, Tobias T.
Yilmaz, Öznur
Channab, Khadija
Seltzsam, Steve
Shril, Shirlee
Hildebrandt, Friedhelm
Boschann, Felix
Heinen, André
Jolly, AngadAff10, Aff11
Myers, Katherine
McBride, Kim
Bekheirnia, Mir RezaAff10, Aff13
Bekheirnia, NasimAff13, Aff14
Scala, MarcelloAff15, Aff16
Morleo, ManuelaAff17, Aff18
Nigro, VincenzoAff17, Aff18
Torella, AnnalauraAff17, Aff18
Pinelli, MicheleAff18, Aff19
Capra, Valeria
Accogli, AndreaAff21, Aff22
Maitz, Silvia
Spano, Alice
Olson, Rory J.
Klee, Eric W.Aff25, Aff26, Aff27
Lanpher, Brendan C.Aff25, Aff26
Jang, Se Song
Chae, Jong-HeeAff28, Aff29
Steinbauer, Philipp
Rieder, Dietmar
Janecke, Andreas R.Aff32, Aff33
Vodopiutz, Julia
Vogel, IdaAff35, Aff36
Blechingberg, Jenny
Cohen, Jennifer L.
Riley, Kacie
Klee, Victoria
Walsh, Laurence E.
Begemann, Matthias
Elbracht, Miriam
Eggermann, Thomas
Stoppe, Arzu
Stuurman, Kyra
van Slegtenhorst, Marjon
Barakat, Tahsin Stefan
Mulhern, Maureen S.Aff43, Aff44
Sands, Tristan T.Aff45, Aff46, Aff47
Cytrynbaum, CherylAff48, Aff49
Weksberg, RosannaAff49, Aff50
Isidori, Federica
Pippucci, Tommaso
Severi, Giulia
Montanari, Francesca
Kruer, Michael C.Aff52, Aff53
Bakhtiari, SomayehAff52, Aff53
Darvish, Hossein
Reutter, HeikoAff1, Aff55, Aff56
Hagelueken, Gregor
Geyer, Matthias
Woolf, Adrian S.Aff5, Aff58
Posey, Jennifer E.
Lupski, James R.Aff10, Aff14, Aff59, Aff60
Odermatt, BenjaminAff2, Aff3
Hilger, Alina C.Aff61, Aff62, IDs41525024003989_cor72
Pokaż więcej
Źródło:
npj Genomic Medicine. 9(1)
Czasopismo naukowe
Czasopismo naukowe
Tytuł:
Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations
Autorzy:
Marks, Stephen D.Aff1, Aff2
Gullett, Ambrose M.Aff1, Aff2
Brennan, Eileen
Tullus, KjellAff1, Aff2
Jaureguiberry, Graciana
Klootwijk, Enriko
Stanescu, Horia C.Aff2, Aff3
Kleta, RobertAff1, Aff2, Aff3
Woolf, Adrian S.Aff2, Aff4
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Źródło:
Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 26(10):1857-1861
Czasopismo naukowe
Tytuł:
Do glomerular hemodynamic adaptations influence the progression of human renal disease?
Autorzy:
Woolf, Adrian S.
Fine, Leon G.
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Źródło:
Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. January 1991 5(1):88-93
Czasopismo naukowe
Tytuł:
Autosomal dominant renal cysts and diabetes (RCAD): A novel syndrome of diabetes and cystic kidney disease resulting from hepatocyte nuclear factor - 1 beta gene mutations
Autorzy:
Owen, Katharine
Bingham, Coralie
Ellard, Sian
Allen, Lisa I.S
Bulman, Michael P
Jones, Robert W.A
Woolf, Adrian S
Nicholls, Anthony J
Hattersley, Andrew T
Pokaż więcej
Źródło:
Diabetes Research and Clinical Practice; September 2000, Vol. 50 Issue: 1, Number 1 Supplement 1 p176-176, 1p
Periodyk
Czasopismo naukowe
Tytuł:
Mutations in the Hepatocyte Nuclear Factor-1Beta Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease.
Autorzy:
Bingham, Coralie
Bulman, Michael P.
Ellard, Sian
Allen, Lisa I. S.
Nicholls, Anthony J.
Hattersley, Andrew T.
Lipkin, Graham W.
van't Hoff, William G.
Woolf, Adrian S.
Rizzoni, Gianfranco
Novelli, Giuseppe
Pokaż więcej
Temat:
HEPATOCYTE growth factor
KIDNEY diseases
MEDICAL genetics
GENETICS
Źródło:
American Journal of Human Genetics. Jan2001, Vol. 68 Issue 1, p219-224. 6p. 1 Diagram.
Czasopismo naukowe
Tytuł:
Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1.
Autorzy:
Feather, Sally A.
Malcolm, Sue
Woolf, Adrian S.
Wright, Victoria
Blaydon, Diana
Reid, Christoher J.D.
Flinter, Frances A.
Proesmans, Willem
Devriendt, Koen
Carter, Joan
Warwicker, Paul
Goodship, Timothy H.J.
Goodship, Judith A.
Pokaż więcej
Źródło:
American Journal of Human Genetics. Apr2000, Vol. 66 Issue 4. 1 Diagram, 2 Charts.
Czasopismo naukowe
Tytuł:
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
Autorzy:
McGregor L; Molecular Medicine, Institute of Child Health, London WC1N 1EH, UK.
Makela V
Darling SM
Vrontou S
Chalepakis G
Roberts C
Smart N
Rutland P
Prescott N
Hopkins J
Bentley E
Shaw A
Roberts E
Mueller R
Jadeja S
Philip N
Nelson J
Francannet C
Perez-Aytes A
Megarbane A
Kerr B
Wainwright B
Woolf AS
Winter RM
Scambler PJ
Pokaż więcej
Źródło:
Nature genetics [Nat Genet] 2003 Jun; Vol. 34 (2), pp. 203-8.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Blister/*genetics
Denys-Drash Syndrome/*genetics
Extracellular Matrix Proteins/*genetics
Animals ; Base Sequence ; Blister/pathology ; Chromosomes, Human, Pair 4/genetics ; DNA/genetics ; DNA Mutational Analysis ; Denys-Drash Syndrome/pathology ; Disease Models, Animal ; Female ; Humans ; Male ; Mice ; Mice, Inbred Strains ; Mice, Mutant Strains ; Molecular Sequence Data ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł:
Recent insights into kidney diseases associated with glomerular cysts.
Autorzy:
Woolf AS; Nephro-Urology Unit, Room 219, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. a.woolf@ich.ucl.ac.uk
Feather SA
Bingham C
Pokaż więcej
Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2002 Apr; Vol. 17 (4), pp. 229-35.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Kidney Glomerulus*
Cysts/*complications
Kidney Diseases/*etiology
Kidney Diseases/*genetics
Abnormalities, Multiple/genetics ; Cysts/etiology ; DNA-Binding Proteins/genetics ; Diabetes Complications ; Diabetes Mellitus/genetics ; Face/abnormalities ; Fetal Diseases ; Fingers/abnormalities ; Hepatocyte Nuclear Factor 1-beta ; Humans ; Kidney Diseases/complications ; Mouth Abnormalities/genetics ; Mutation/physiology ; Syndrome ; Transcription Factors/genetics ; Urologic Diseases/complications ; Urologic Diseases/embryology
Czasopismo naukowe
    Wyświetlanie 1-100 z 100

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