Cecilia Soussi Zander

Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

Thuresson, Ann-Charlotte; Brazina, Jan; Akram, Talia; Albrecht, Julia et al.

Ingår i Molecular Genetics & Genomic Medicine, 2024

• DOI för Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay
• Ladda ner fulltext (pdf) av Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Celse, Tristan; Tingaud-Sequeira, Angèle; Dieterich, Klaus; Siegfried, Geraldine et al.

Ingår i Journal of Medical Genetics, s. 620-626, 2023

• DOI för OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Proximal Deletion 12q with a New Insight to Growth Retardation

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

Ingår i Molecular Syndromology, s. 115-124, 2020

• DOI för Proximal Deletion 12q with a New Insight to Growth Retardation
• Ladda ner fulltext (pdf) av Proximal Deletion 12q with a New Insight to Growth Retardation

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

Thuresson, Ann-Charlotte; Zander, Cecilia; Zhao, Jin James; Halvardson, Jonatan et al.

Ingår i Clinical Genetics, s. 436-439, 2019

• DOI för Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
• Ladda ner fulltext (pdf) av Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

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

Zhao, Jin James; Halvardson, Jonatan; Zander, Cecilia; Zaghlool, Ammar et al.

Ingår i American Journal of Medical Genetics Part B, s. 10-20, 2018

• DOI för Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
• Ladda ner fulltext (pdf) av Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

Thuresson, Ann-Charlotte; Brazina, Jan; Akram, Talia; Albrecht, Julia et al.

Ingår i Molecular Genetics & Genomic Medicine, 2024

• DOI för Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay
• Ladda ner fulltext (pdf) av Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Celse, Tristan; Tingaud-Sequeira, Angèle; Dieterich, Klaus; Siegfried, Geraldine et al.

Ingår i Journal of Medical Genetics, s. 620-626, 2023

• DOI för OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Proximal Deletion 12q with a New Insight to Growth Retardation

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

Ingår i Molecular Syndromology, s. 115-124, 2020

• DOI för Proximal Deletion 12q with a New Insight to Growth Retardation
• Ladda ner fulltext (pdf) av Proximal Deletion 12q with a New Insight to Growth Retardation

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

Thuresson, Ann-Charlotte; Zander, Cecilia; Zhao, Jin James; Halvardson, Jonatan et al.

Ingår i Clinical Genetics, s. 436-439, 2019

• DOI för Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
• Ladda ner fulltext (pdf) av Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

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

Zhao, Jin James; Halvardson, Jonatan; Zander, Cecilia; Zaghlool, Ammar et al.

Ingår i American Journal of Medical Genetics Part B, s. 10-20, 2018

• DOI för Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
• Ladda ner fulltext (pdf) av Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

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 et al.

Ingår i Clinical Genetics, s. 106-110, 2017

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

Mutations in HECW2 are associated with intellectual disability and epilepsy

Halvardson, Jonatan; Zhao, Jin J.; Zaghlool, Ammar; Wentzel, Christian et al.

Ingår i Journal of Medical Genetics, s. 697-704, 2016

• DOI för Mutations in HECW2 are associated with intellectual disability and epilepsy
• Ladda ner fulltext (pdf) av Mutations in HECW2 are associated with intellectual disability and epilepsy

Beckwith-Wiedemann Syndrome Revisited.

Zander, Cecilia Soussi

Ingår i Human Mutation, 2015

• DOI för Beckwith-Wiedemann Syndrome Revisited.

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

Englund, Annika; Jonsson, Björn; Zander, Cecilia Soussi; Gustafsson, Jan et al.

Ingår i American Journal of Medical Genetics. Part A, s. 642-649, 2013

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

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

Thierry, Gaelle; Beneteau, Claire; Pichon, Olivier; Flori, Elisabeth et al.

Ingår i American Journal of Medical Genetics. Part A, s. 1633-1640, 2012

• DOI för Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

A cloning strategy for identification of genes containing trinucleotide repeat expansions

Yuan, Q.-P.; Lindblad-Toh, Kerstin; Zander, Cecilia; Burgess, C. et al.

Ingår i International Journal of Molecular Medicine, s. 427-431, 2001

• DOI för A cloning strategy for identification of genes containing trinucleotide repeat expansions

Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3

Zander, C; Takahashi, J; El Hachimi, K H; Fujigasaki, H et al.

Ingår i Human Molecular Genetics, s. 2569-2579, 2001

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

Fujigasaki, H; Verma, I C; Camuzat, A; Margolis, R L et al.

Ingår i Ann Neurol, s. 117-21, 2001

Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.

Lebre, A S; Jamot, L; Takahashi, J; Spassky, N et al.

Ingår i Hum Mol Genet, s. 1201-13, 2001

Distribution of ataxin-7 in normal human brain and retina.

Cancel, G; Duyckaerts, C; Holmberg, M; Zander, C et al.

Ingår i Brain, s. 2519-30, 2000