These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 9415468)

  • 1. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).
    Hasegawa T; Hasegawa Y; Aso T; Koto S; Nagai T; Tsuchiya Y; Kim KC; Ohashi H; Wakui K; Fukushima Y
    Am J Med Genet; 1997 Dec; 73(4):416-8. PubMed ID: 9415468
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.
    Fujimoto S; Yokochi K; Morikawa H; Nakano M; Shibata H; Togari H; Wada Y
    Am J Med Genet; 1999 Oct; 86(5):427-9. PubMed ID: 10508983
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.
    Lichtner P; König R; Hasegawa T; Van Esch H; Meitinger T; Schuffenhauer S
    J Med Genet; 2000 Jan; 37(1):33-7. PubMed ID: 10633131
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
    Belge H; Dahan K; Cambier JF; Benoit V; Morelle J; Bloch J; Vanhille P; Pirson Y; Demoulin N
    Nephrol Dial Transplant; 2017 May; 32(5):830-837. PubMed ID: 27387476
    [TBL] [Abstract][Full Text] [Related]  

  • 5. GATA3 haplo-insufficiency causes human HDR syndrome.
    Van Esch H; Groenen P; Nesbit MA; Schuffenhauer S; Lichtner P; Vanderlinden G; Harding B; Beetz R; Bilous RW; Holdaway I; Shaw NJ; Fryns JP; Van de Ven W; Thakker RV; Devriendt K
    Nature; 2000 Jul; 406(6794):419-22. PubMed ID: 10935639
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.
    Okawa T; Yoshida M; Usui T; Kudou T; Iwasaki Y; Fukuoka K; Takahashi N; Uehara Y; Oiso Y
    BMC Endocr Disord; 2015 Oct; 15():66. PubMed ID: 26514990
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.
    Cheon CK; Kim GH; Yoo HW
    Yonsei Med J; 2015 Jan; 56(1):300-3. PubMed ID: 25510779
    [TBL] [Abstract][Full Text] [Related]  

  • 8. HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.
    Bernardini L; Sinibaldi L; Capalbo A; Bottillo I; Mancuso B; Torres B; Novelli A; Digilio MC; Dallapiccola B
    Clin Genet; 2009 Jul; 76(1):117-9. PubMed ID: 19659764
    [No Abstract]   [Full Text] [Related]  

  • 9. Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction.
    Mejia JD; Cervantes L; Puerta H; Bauer M; Diaz A
    J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):961-5. PubMed ID: 24859509
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia.
    Watanabe T; Mochizuki H; Kohda N; Minamitani K; Minagawa M; Yasuda T; Niimi H
    Eur J Endocrinol; 1998 Dec; 139(6):631-4. PubMed ID: 9916869
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Transcription factor GATA3 and the human HDR syndrome.
    Van Esch H; Devriendt K
    Cell Mol Life Sci; 2001 Aug; 58(9):1296-300. PubMed ID: 11577985
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.
    Bilous RW; Murty G; Parkinson DB; Thakker RV; Coulthard MG; Burn J; Mathias D; Kendall-Taylor P
    N Engl J Med; 1992 Oct; 327(15):1069-74. PubMed ID: 1522843
    [No Abstract]   [Full Text] [Related]  

  • 13. The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.
    Döneray H; Usui T; Kaya A; Dönmez AS
    J Clin Res Pediatr Endocrinol; 2015 Jun; 7(2):140-3. PubMed ID: 26316437
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
    Ali A; Christie PT; Grigorieva IV; Harding B; Van Esch H; Ahmed SF; Bitner-Glindzicz M; Blind E; Bloch C; Christin P; Clayton P; Gecz J; Gilbert-Dussardier B; Guillen-Navarro E; Hackett A; Halac I; Hendy GN; Lalloo F; Mache CJ; Mughal Z; Ong AC; Rinat C; Shaw N; Smithson SF; Tolmie J; Weill J; Nesbit MA; Thakker RV
    Hum Mol Genet; 2007 Feb; 16(3):265-75. PubMed ID: 17210674
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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.
    Kamezaki M; Kusaba T; Adachi T; Yamashita N; Nakata M; Ota N; Shiotsu Y; Ishida M; Usui T; Tamagaki K
    Intern Med; 2017; 56(11):1393-1397. PubMed ID: 28566604
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response.
    Kita M; Kuwata Y; Usui T
    Auris Nasus Larynx; 2019 Oct; 46(5):808-812. PubMed ID: 30396722
    [TBL] [Abstract][Full Text] [Related]  

  • 17. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
    Muroya K; Hasegawa T; Ito Y; Nagai T; Isotani H; Iwata Y; Yamamoto K; Fujimoto S; Seishu S; Fukushima Y; Hasegawa Y; Ogata T
    J Med Genet; 2001 Jun; 38(6):374-80. PubMed ID: 11389161
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
    Hernández AM; Villamar M; Roselló L; Moreno-Pelayo MA; Moreno F; Del Castillo I
    Am J Med Genet A; 2007 Apr; 143A(7):757-62. PubMed ID: 17309062
    [No Abstract]   [Full Text] [Related]  

  • 19. 10p12.1 deletion: HDR phenotype without DGS2 features.
    Benetti E; Murer L; Bordugo A; Andreetta B; Artifoni L
    Exp Mol Pathol; 2009 Feb; 86(1):74-6. PubMed ID: 19022243
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome associated with nephrocalcinosis and distal renal tubular acidosis.
    Kato Y; Wada N; Numata A; Kakizaki H
    Int J Urol; 2007 May; 14(5):440-2. PubMed ID: 17511729
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.