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Links from PubMed

Items: 10

1.

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 27;406(6794):419-22.

PMID:
10935639
2.

Transcription factor GATA3 and the human HDR syndrome.

Van Esch H, Devriendt K.

Cell Mol Life Sci. 2001 Aug;58(9):1296-300. Review.

PMID:
11577985
3.

An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

Lichtner P, K├Ânig R, Hasegawa T, Van Esch H, Meitinger T, Schuffenhauer S.

J Med Genet. 2000 Jan;37(1):33-7. Review.

4.

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 31;73(4):416-8. Review.

PMID:
9415468
5.

GATA3 and kidney development: why case reports are still important.

Van Esch H, Bilous RW.

Nephrol Dial Transplant. 2001 Nov;16(11):2130-2. Review. No abstract available.

PMID:
11682654
6.

Role of the vascular endothelial growth factor isoforms in retinal angiogenesis and DiGeorge syndrome.

Stalmans I.

Verh K Acad Geneeskd Belg. 2005;67(4):229-76. Review.

PMID:
16334858
7.

Familial idiopathic hypoparathyroidism, sensorineural deafness and renal dysplasia.

Ishida S, Isotani H, Kameoka K, Kishi T.

Intern Med. 2001 Feb;40(2):110-3. Review.

8.

[HDR syndrome (GATA3 haploinsufficiency syndrome)].

Mochizuki T, Fujita K, Yamada H, Ogata T.

Nihon Rinsho. 2006 Jun 28;Suppl 2:74-6. Review. Japanese. No abstract available.

PMID:
16817354
9.

[Progress in diagnosis and therapy: Hypocalcemia due to idiopathic hypoparathyroidism].

Tanaka H.

Nihon Naika Gakkai Zasshi. 2007 Apr 10;96(4):707-12. Review. Japanese. No abstract available.

PMID:
17506308
10.

Human genetic mapping and inherited deafness syndromes.

Leppert MF, Lewis RA.

Ann N Y Acad Sci. 1991;630:38-48. Review. No abstract available.

PMID:
1952622

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