Cecilia Zander: search on Z-Library

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1

Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

Thuresson, Ann-Charlotte, Soussi Zander, Cecilia, Zhao, Jin J., Halvardson, Jonatan, Maqbool, Khurram, Månsson, Else, Stenninger, Eric, Holmlund, Ulrika, Öhrner, Ylva, Feuk, Lars

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 602 KB

english, 2018

2

Changes in mortality and causes of death in the Swedish Down syndrome population

Englund, Annika, Jonsson, Björn, Zander, Cecilia Soussi, Gustafsson, Jan, Annerén, Göran

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 501 KB

english, 2013

3

Mutations in HECW2 are associated with intellectual disability and epilepsy

Halvardson, Jonatan, Zhao, Jin J, Zaghlool, Ammar, Wentzel, Christian, Georgii-Hemming, Patrik, Månsson, Else, Ederth Sävmarker, Helena, Brandberg, Göran, Soussi Zander, Cecilia, Thuresson, Ann-Charlo

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

4

Proximal Deletion 12q with a New Insight to Growth Retardation

Sobol, Maria, Thuresson, Ann-Charlotte, Palmberg, Nathalie, Soussi Zander, Cecilia

Journal:

Molecular Syndromology

Year:

2020

File:

PDF, 1.42 MB

2020

5

Expanded trinucleotide CAG repeats in families with bipolar affective disorder

Julien Mendlewicz, Kerstin Lindbald, Daniel Souery, Brigitte Mahieu, Per Olof Nylander, An De Bruyn, Cecilia Zander, Christer Engström, Rolf Adolfsson, Christine Van Broeckhoven, Martin Schalling, Oli

Journal:

Biological Psychiatry

Year:

1997

Language:

english

File:

PDF, 784 KB

english, 1997

6

Beckwith-Wiedemann Syndrome Revisited

Soussi-Zander, Cecilia

Journal:

Year:

2015

Language:

english

File:

PDF, 68 KB

english, 2015

7

Whole-gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

Thuresson, Ann-Charlotte, Van Buggenhout, Griet, Sheth, Frenny, Kamate, Mahesh, Andrieux, Joris, Clayton Smith, Jill, Soussi Zander, Cecilia

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 852 KB

english, 2016

8

Multivariate Analysis of Factors Influencing Repeat Expansion Detection

Zander, Cecilia, Thelaus, Jonas, Lindblad, Kerstin, Karlsson, Mikael, Sjöberg, Kjell, Schalling, Martin

Journal:

Genome Research

Year:

1998

Language:

english

File:

PDF, 403 KB

english, 1998

9

Autism Spectrum Disorders in the Stockholm Youth Cohort: Design, Prevalence and Validity

Idring, Selma, Rai, Dheeraj, Dal, Henrik, Dalman, Christina, Sturm, Harald, Zander, Eric, Lee, Brian K., Serlachius, Eva, Magnusson, Cecilia, Hu, Valerie W.

Journal:

Year:

2012

Language:

english

File:

PDF, 195 KB

english, 2012

10

Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity

Morwena Latouche, Pascal Fragner, Elodie Martin, Khalid H. El Hachimi, Cecilia Zander, Annie Sittler, Merle Ruberg, Alexis Brice, Giovanni Stevanin

Journal:

Molecular and Cellular Neuroscience

Year:

2006

Language:

english

File:

PDF, 377 KB

english, 2006

11

Detection of expanded CAG repeats in Bipolar Affective Disorder using the repeat expansion detection (RED) method

Kerstin Lindblad, Per-Olof Nylander, An De bruyn, Daniel Sourey, Cecilia Zander, Christer Engström, Gösta Holmgren, Tom Hudson, Jayanti Chotai, Julien Mendlewicz, Christine Van Broeckhoven, Martin Sch

Journal:

Neurobiology of Disease

Year:

1995

Language:

english

File:

PDF, 350 KB

english, 1995

12

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

Zhao, Jin J., Halvardson, Jonatan, Zander, Cecilia S., Zaghlool, Ammar, Georgii-Hemming, Patrik, Månsson, Else, Brandberg, Göran, Sävmarker, Helena E., Frykholm, Carina, Kuchinskaya, Ekaterina, Thures

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2017

Language:

english

File:

PDF, 525 KB

english, 2017

13

Mutation Detection in Machado-Joseph Disease Using Repeat Expansion Detection

Lindblad, Kerstin, Lunkes, Astrid, Maciel, Patricia, Stevanin, Giovanni, Zander, Cecilia, Klockgether, Thomas, Ratzlaff, Tim, Brice, Alexis, Rouleau, Guy A., Hudson, Tom, Auburger, Georg, Schalling, M

Journal:

Molecular Medicine

Year:

1996

Language:

english

File:

PDF, 1.73 MB

english, 1996

14

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family

Hiroto Fujigasaki, Ishwar C. Verma, Agnès Camuzat, Russell L. Margolis, Cecilia Zander, Anne-Sophie Lebre, Laure Jamot, Renu Saxena, Ish Anand, Susan E. Holmes, Christopher A. Ross, Alexandra Dürr, Al

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 6.37 MB

english, 2001

15

Oculopharyngeal muscular dystrophy (OPMD)-report and genetic studies of an Australian kindred

Bin Tean Teh, Alice-Ann Sullivan, Filip Farnebo, Cecilia Zander, Fang Yuan Li, Noela Strachan, Martin Schalling, Catharina Larsson, Paul Sandstrom

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 330 KB

english, 1997

16

CAG repeat sequences in bipolar affective disorder: No evidence for association in a french population

Zander, Cecilia, Sch�rhoff, Franck, Laurent, Claudine, Chavand, Olivier, Bellivier, Frank, Samolyk, Dani�le, Leboyer, Marion, Allilaire, Jean-Fran�ois, Cann, Howard, N�ri, Christian, Mallet, Jacques

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 60 KB

english, 1998

17

Anticipation in schizophrenia: No evidence of expanded CAG/CTG repeat sequences in French families and sporadic cases

Laurent, Claudine, Zander, Cecilia, Thibaut, Florence, Bonnet-Brilhault, Fr�d�rique, Chavand, Olivier, Jay, Maurice, Samolyk, Dani�le, Petit, Michel, Martinez, Maria, Campion, Dominique, N�ri, Christi

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 188 KB

english, 1998

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