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GUCY2D gene
Known as:
GUANYLATE CYCLASE 2D, MEMBRANE
, RETGC-1
, GUANYLATE CYCLASE 2D, RETINAL
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National Institutes of Health
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Related topics
Related topics
2 relations
Gucy2d protein, mouse
Leber Congenital Amaurosis
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Geriatri Kliniğimizde Yapılan Kemik İliği Biyopsi Sonuçlarının Çok Yönlü Değerlendirilmesi: Tanı, Prezentasyon ve Mortalite
Hande Selvi Öztorun
,
T. Turgut
,
+4 authors
S. Aras
2018
Corpus ID: 80820750
OZET: Yaslanma ile birlikte hematolojik hastaliklarin sikligi artmaktadir. Kemik iligi biyopsisi, kemik iligini etkileyen pek cok…
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2018
2018
Leber Congenital Amaurosis in Asia
S. Dharmaraj
,
Anshuman Verma
,
Periasamy Sundaresan
,
C. Kannabiran
Essentials in Ophthalmology
2018
Corpus ID: 81475091
Leber congenital amaurosis (LCA) is a heterogeneous infantile retinal dystrophy presenting with severe visual loss, nystagmus…
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2017
2017
A BSTRACT PURPOSE : To determine outcome measures for a clinical trial of Leber congenital amaurosis ( LCA ) associated with mutations in the GUCY 2 D gene
S. Jacobson
,
A. Cideciyan
,
+8 authors
S. Boye
2017
Corpus ID: 207786902
PURPOSE: To determine outcome measures for a clinical trial of Leber congenital amaurosis (LCA) associated with mutations in the…
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Review
2011
Review
2011
intracellular free calcium in HEK293 cells Melanocortin receptor-mediated mobilization of
H. Willard
,
W. Wilkison
,
+12 authors
J. Lytton
2011
Corpus ID: 44446832
[PDF] [Full Text] [Abstract] , July 1, 2005; 146 (7): 3123-3132. Endocrinology Jodi F. Evans, Chwan-L Shen, Simcha Pollack…
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2009
2009
Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy.
Kai Ma
,
Xiu-fen Yang
,
+7 authors
N. Liu
Chinese Medical Journal
2009
Corpus ID: 5737327
BACKGROUND A Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified. The purpose of…
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2007
2007
Genetische und klinische Heterogenität bei LCA-Patienten
M. Preising
,
K. Paunescu
,
C. Friedburg
,
B. Lorenz
Der Ophthalmologe
2007
Corpus ID: 46054872
ZusammenfassungHintergrundDie Diagnose kongenitale Lebersche Amaurose (LCA) umfasst Patienten mit frühkindlicher…
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2006
2006
with juvenile retinitis pigmentosa genes in patients RPGRIP1 , and GUCY2D, RPE65 AIPL1, CRB1, Identification of mutations in the
A. Bergen
,
J. Booij
,
R. Florijn
,
W. Loves
,
F. Meire
,
M. J. Schooneveld
2006
Corpus ID: 88264841
2005
2005
Cloning and expression of a second photoreceptor-specfi c membrane retina guanylyl cyclase ( RetGC ) , RetGC-2 ( cGMP / calcium / phototransduction )
D. Lowe
,
Alexander M. DIZHOORt
,
+5 authors
J. Hurley
2005
Corpus ID: 42330723
One of the membrane guanylyl cyclases (GCs), RetGC, is expressed predominantly in photoreceptors. No extracellular ligand has…
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2004
2004
A novel complex mutation in GUCY2D in a Japanese family with cone-rod dystrophy
伊藤 正
2004
Corpus ID: 82224916
2000
2000
Negative b-wave electroretinogram suggests a novel mechanism of photoreceptor cell death in human GUCY2D-mutant cone-rod retinal dystrophy.
K. Gregory-Evans
,
C. Gregory‐Evans
,
G. Holder
,
D. Hunt
,
A. Bird
,
A. Moore
2000
Corpus ID: 64104744
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