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Search Results - NORGETT, Elizabeth E
Search Results - NORGETT, Elizabeth E
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Urinary Exosomes Contain MicroRNAs Capable of Paracrine Modulation of Tubular Transporters in Kidney
by
Gracia, Tannia
,
Wang, Xiaonan
,
Su, Ya
,
Norgett, Elizabeth E
,
Williams, Timothy L
,
Moreno, Pablo
,
Micklem, Gos
,
Karet Frankl, Fiona E
Published in
Scientific reports
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Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype
by
Norgett, Elizabeth E
,
Golder, Zoe J
,
Lorente-Cánovas, Beatriz
,
Ingham, Neil
,
Steel, Karen P
,
Frankl, Fiona E. Karet
Published in
Proceedings of the National Academy of Sciences - PNAS
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Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear
by
Lorente-Cánovas, Beatriz
,
Ingham, Neil
,
Norgett, Elizabeth E
,
Golder, Zoe J
,
Karet Frankl, Fiona E
,
Steel, Karen P
Published in
Disease models & mechanisms
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ABCA12 Is the Major Harlequin Ichthyosis Gene
by
Thomas, Anna C.
,
Cullup, Tom
,
Norgett, Elizabeth E.
,
Hill, Tara
,
Barton, Stephanie
,
Dale, Beverly A.
,
Sprecher, Eli
,
Sheridan, Eamonn
,
Taylor, Aileen E.
,
Wilroy, Robert S.
,
DeLozier, Celia
,
Burrows, Nigel
,
Goodyear, Helen
,
Fleckman, Philip
,
Stephens, Karen G.
,
Mehta, Lakshmi
,
Watson, Rosemarie M.
,
Graham, Robert
,
Wolf, Roni
,
Slavotinek, Anne
,
Martin, Madelena
,
Bourn, David
,
Mein, Charles A.
,
O'Toole, Edel A.
,
Kelsell, David P.
Published in
Journal of investigative dermatology
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V1 and V0 Domains of the Human H+-ATPase Are Linked by an Interaction between the G and a Subunits
by
Norgett, Elizabeth E.
,
Borthwick, Katherine J.
,
Al-Lamki, Rafia S.
,
Su, Ya
,
Smith, Annabel N.
,
Karet, Fiona E.
Published in
The Journal of biological chemistry
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Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
by
NORGETT, Elizabeth E
,
HATSELL, Sarah J
,
CARVAJAL-HUERTA, Luis
,
CABEZAS, Juan-Carlos Ruiz
,
COMMON, John
,
PURKIS, Patricia E
,
WHITTOCK, Neil
,
LEIGH, Irene M
,
STEVENS, Howard P
,
KELSELL, David P
Published in
Human molecular genetics
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A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report
by
Norgett, Elizabeth E
,
Yii, Anthony
,
Blake-Palmer, Katherine G
,
Sharifian, Mostafa
,
Allen, Louise E
,
Najafi, Abdolhamid
,
Kariminejad, Ariana
,
Karet Frankl, Fiona E
Published in
BMC medical genetics
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Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin
by
Norgett, Elizabeth E.
,
Lucke, Tom W.
,
Bowers, Bill
,
Munro, Colin S.
,
Leigh, Irene M.
,
Kelsell, David P.
Published in
Journal of investigative dermatology
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Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis
by
David Kelsell, P.
,
Elizabeth Norgett, E.
,
Unsworth, Harriet
,
Teh, Muy-Teck
,
Cullup, Thomas
,
Mein, Charles A.
,
Patricia Dopping-Hepenstal, J.
,
Beverly Dale, A.
,
Tadini, Gianluca
,
Fleckman, Philip
,
Karen Stephens, G.
,
Virginia Sybert, P.
,
Susan Mallory, B.
,
Bernard North, V.
,
David Witt, R.
,
Sprecher, Eli
,
E. M. Taylor, Aileen
,
Ilchyshyn, Andrew
,
Cameron Kennedy, T.
,
Goodyear, Helen
,
Moss, Celia
,
Paige, David
,
John Harper, I.
,
Bryan Young, D.
,
Irene Leigh, M.
,
Robin Eady, A.J.
,
Edel O’Toole, A.
Published in
American journal of human genetics
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SPINK5: both rare and common skin disease
by
Norgett, Elizabeth E
,
Kelsell, David P
Published in
Trends in molecular medicine
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Importance of early audiologic assessment in distal renal tubular acidosis
by
Swayamprakasam, Anand P
,
Stover, Elizabeth
,
Norgett, Elizabeth
,
Blake-Palmer, Katherine G
,
Cunningham, Michael J
,
Karet, Fiona E
Published in
International medical case reports journal
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Importance of early audiologic assessment in distal renal tubular acidosis
by
Swayamprakasam, Anand P
,
Stover, Elizabeth
,
Norgett, Elizabeth
,
Blake-Palmer, Katherine G
,
Cunningham, Michael J
,
Karet, Fiona E
Published in
International medical case reports journal
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