Burstedt, Marie S. I.: search on Z-Library

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1

ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing

Jonsson, Frida, Westin, Ida Maria, Österman, Lennart, Sandgren, Ola, Burstedt, Marie, Holmberg, Monica, Golovleva, Irina

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2018

Language:

english

File:

PDF, 573 KB

english, 2018

2

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

Kvarnung, Malin, Taylan, Fulya, Nilsson, Daniel, Anderlid, Britt-Marie, Malmgren, Helena, Lagerstedt-Robinson, Kristina, Holmberg, Eva, Burstedt, Magnus, Nordenskjöld, Magnus, Nordgren, Ann, Syk Lundb

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 6.05 MB

english, 2018

3

Effects of prolonged dark adaptation in patients with retinitis pigmentosa of Bothnia type: an electrophysiological study

Marie S. I. Burstedt, Ola Sandgren, Irina Golovleva, Lillemor Wachtmeister

Journal:

Documenta Ophthalmologica

Year:

2008

Language:

english

File:

PDF, 547 KB

english, 2008

4

Tinted contact lenses in Bothnia dystrophy

Åsa C. Jonsson, Marie S. I. Burstedt, Irina Golovleva, Ola Sandgren

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2007

Language:

english

File:

PDF, 539 KB

english, 2007

5

Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

Köhn, Linda, Bowne, Sara J, S Sullivan, Lori, Daiger, Stephen P, Burstedt, Marie SI, Kadzhaev, Konstantin, Sandgren, Ola, Golovleva, Irina

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 477 KB

english, 2008

6

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

Köhn, Linda, Kadzhaev, Konstantin, Burstedt, Marie S I, Haraldsson, Susann, Hallberg, Bengt, Sandgren, Ola, Golovleva, Irina

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.35 MB

english, 2007

7

Genotype–phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations

Marie Burstedt, Frida Jonsson, Linda Köhn, Magnus Burstedt, Markus Kivitalo, Irina Golovleva

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2012

Language:

english

File:

PDF, 733 KB

english, 2012

8

Rod–Cone Dystrophy with Maculopathy in Genetic Glutathione Synthetase Deficiency: A Morphologic and Electrophysiologic Study

Marie S.I. Burstedt, Ellinor Ristoff, Agne Larsson, Lillemor Wachtmeister

Journal:

Year:

2009

Language:

english

File:

PDF, 562 KB

english, 2009

9

Retinal function in Bothnia dystrophy. An electrophysiological study

Marie S.I Burstedt, Ola Sandgren, Irina Golovleva, Lillemor Wachtmeister

Journal:

Vision Research

Year:

2003

Language:

english

File:

PDF, 230 KB

english, 2003

10

The response of the neuronal adaptive system to background illumination and readaptation to dark in the immature retina

Wang, Ling, el Azazi, Mildred, Eklund, Anders, Burstedt, Marie, Wachtmeister, Lillemor

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2015

Language:

english

File:

PDF, 403 KB

english, 2015

11

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family

Jonsson, Frida, Burstedt, Marie S, Sandgren, Ola, Norberg, Anna, Golovleva, Irina

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 788 KB

english, 2013

12

ASSOCIATIONS BETWEEN SPECIFIC MEASURES OF VISION AND VISION-RELATED QUALITY OF LIFE IN PATIENTS WITH BOTHNIA DYSTROPHY, A DEFINED TYPE OF RETINITIS PIGMENTOSA

BURSTEDT, MARIE S.I., MÖNESTAM, EVA, SANDGREN, OLA

Journal:

Year:

2005

Language:

english

File:

PDF, 321 KB

english, 2005

13

Central Retinal Findings in Bothnia Dystrophy Caused by RLBP1 Sequence Variation

Burstedt, Marie S. I.

Journal:

Archives of Ophthalmology

Year:

2010

Language:

english

File:

PDF, 849 KB

english, 2010

14

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Weisschuh, Nicole, Stingl, Katarina, Audo, Isabelle, Biskup, Saskia, Bocquet, Béatrice, Branham, Kari, Burstedt, Marie S, De Baere, Elfride, De Vries, Meindert J, Golovleva, Irina, Green, Andrew, Heck

Journal:

Year:

2018

Language:

english

File:

PDF, 677 KB

english, 2018

15

Front Cover

Kvarnung, Malin, Taylan, Fulya, Nilsson, Daniel, Anderlid, Britt-Marie, Malmgren, Helena, Lagerstedt-Robinson, Kristina, Holmberg, Eva, Burstedt, Magnus, Nordenskjöld, Magnus, Nordgren, Ann, Lundberg,

Journal:

Clinical Genetics

Year:

2018

File:

PDF, 2.91 MB

2018

16

Carrier of R14W in Carbonic Anhydrase IV Presents Bothnia Dystrophy Phenotype Caused by Two Allelic Mutations in RLBP1

Ko¨hn, Linda, Burstedt, Marie S. I., Jonsson, Frida, Kadzhaev, Konstantin, Haamer, Eneli, Sandgren, Ola, Golovleva, Irina

Journal:

Investigative Ophthalmology & Visual Science

Year:

2008

Language:

english

File:

PDF, 198 KB

english, 2008