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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Disease Progression and ABCA4[original query]
Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease.
Investigative ophthalmology & visual science 2005 Dec 46 (12): 4402-8.
Hargitai Janos, Zernant Jana, Somfai Gabor M, Vamos Rita, Farkas Agnes, Salacz Gyorgy, Allikmets Ran
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Ophthalmology 2013 Nov 120 (11): 2332-7.
Riveiro-Alvarez Rosa, Lopez-Martinez Miguel-Angel, Zernant Jana, Aguirre-Lamban Jana, Cantalapiedra Diego, Avila-Fernandez Almudena, Gimenez Ascension, Lopez-Molina Maria-Isabel, Garcia-Sandoval Blanca, Blanco-Kelly Fiona, Corton Marta, Tatu Sorina, Fernandez-San Jose Patricia, Trujillo-Tiebas Maria-Jose, Ramos Carmen, Allikmets Rando, Ayuso Carm
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
Experimental eye research 2015 Nov .
?cie?y?ska Aneta, Ozi?b?o Dominika, Ambroziak Anna M, Korwin Magdalena, Szulborski Kamil, Krawczy?ski Maciej, Stawi?ski Piotr, Szaflik Jerzy, Szaflik Jacek P, P?oski Rafa?, O?dak Moni
Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
Genes 2021 6 12 (6): .
Buhler Virginie M M, Berger Lieselotte, Schaller André, Zinkernagel Martin S, Wolf Sebastian, Escher Pasc
Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease.
International journal of molecular sciences 2022 12 23 (24): .
Sajovic Jana, Megli? Andrej, Hawlina Marko, Fakin A
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.
JCI insight 2022 1 7 (2): .
Pfau Maximilian, Cukras Catherine A, Huryn Laryssa A, Zein Wadih M, Ullah Ehsan, Boyle Marisa P, Turriff Amy, Chen Michelle A, Hinduja Aarti S, Siebel Hermann Ea, Hufnagel Robert B, Jeffrey Brett G, Brooks Brian
Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population.
International journal of molecular sciences 2023 11 24 (22): .
Vitaly V Kadyshev, Ekaterina A Alekseeva, Vladimir V Strelnikov, Anna A Stepanova, Alexander V Polyakov, Andrey V Marakhonov, Sergey I Kutsev, Rena A Zinchen
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