about
Pathway signature and cellular differentiation in clear cell renal cell carcinoma.A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome.Auditory and vestibular phenotypes associated with GATA3 mutation.The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.HDR syndrome in a Japanese girl with biliary atresia: a case reportThe First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia SyndromeAhsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR).Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia SyndromeClinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene.Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region.Hypoparathyroidism mimicking ankylosing spondylitis and myopathy: a case report.Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome.Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.Cutaneous squamous cell carcinoma progression is associated with decreased GATA-3 immunohistochemical staining.Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report.
P2860
Q33587345-744712F9-2415-4A7B-A17F-1B1320170A78Q33755640-1230F11A-72D0-4E1B-9ECA-A02A17A9848AQ33940407-662AA66E-D340-473C-8EC7-9E7E0B1576FAQ34774210-6D791200-76D8-4447-98FC-59C8B953F55FQ35826632-4C70C94D-C548-4F6D-967D-5E17835C3D8EQ35901921-3E6D6D4D-E352-479C-A52B-D821CCACDF0BQ36038835-68E949DE-9794-4FD0-A4E6-244E7A35462FQ36722560-D9DECB13-8949-45D8-A599-BD1DC523A1C4Q37137802-C1A4F7CE-51EC-462D-8158-D854AC402F22Q37711664-D204B5F2-6F58-40FA-8057-1426AADD1C82Q38888919-451FAC85-07AE-4D29-A6E8-361B1C853F69Q40958907-2B29678C-2B2F-4E36-B5A4-AFA233150D5AQ41196711-5D1A0156-9147-409A-8DFA-F1EB666502D5Q41860203-888FED54-64D5-4A51-B98D-52162D765AA1Q50352063-31F4066D-3490-481F-A4BD-04B53E0A4660Q50358207-78EC100A-7E5B-4AFA-A183-B6C8A4F86875Q50434627-DD86DE63-42EC-4396-9260-F98F34442C5DQ53320739-A87109BF-B9B7-4294-BE07-0202F024EEBEQ53642057-D532736B-7AB4-4C38-A1CA-2C80EC476E14Q55313166-C6A7AA3B-9A04-4938-B25D-ABEB601E5A94
P2860
description
2009 nî lūn-bûn
@nan
2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@ast
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@en
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@en-gb
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@nl
type
label
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@ast
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@en
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@en-gb
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@nl
prefLabel
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@ast
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@en
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@en-gb
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@nl
P2093
P356
P1476
HDR syndrome: a novel "de novo" mutation in GATA3 gene
@en
P2093
Adriana Carando
Alberto Ponzone
Angelo Giovanni Del Monaco
Barbara De Vito
Emanuela Garelli
Patrizia Pappi
Roberto Lala
Silvio Ferraris
P356
10.1002/AJMG.A.32689
P407
P577
2009-02-15T00:00:00Z