Lista de obras - Christina Fagerberg - Dominio Público Uruguay

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.

artículo científico publicado en 2016

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.

artículo científico publicado en 2012

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

artículo científico publicado en 2020

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

artículo científico publicado en 2019

A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2.

artículo científico publicado en 2016

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

artículo científico publicado en 2015

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

artículo científico publicado en 2017

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration

artículo científico publicado en 2020

Chromosomal Aberrations in Monozygotic and Dizygotic Twins Versus Singletons in Denmark During 1968-2009.

artículo científico publicado en 2017

Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema

artículo científico publicado en 2017

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

artículo científico publicado en 2019

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

artículo científico publicado en 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

artículo científico publicado en 2019

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

artículo científico publicado en 2014

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

artículo científico publicado en 2019

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

artículo científico publicado en 2013

Heart defects and other features of the 22q11 distal deletion syndrome

artículo científico publicado en 2012

Histiocytic disorders of the gastrointestinal tract.

artículo científico

Homozygosity for Arg1142Gln causes congenital myopathy with variable disease expression

scientific article published on 19 September 2018

How well do patient and general practitioner agree about the content of consultations?

artículo científico publicado en 1999

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

artículo científico publicado en 2017

Is MED13L-related intellectual disability a recognizable syndrome?

artículo científico publicado en 2018

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

artículo científico publicado en 2018

Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.

artículo científico publicado en 2010

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

artículo científico publicado en 2014

Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema

artículo científico publicado en 2013

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

artículo científico publicado en 2012

Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect

scientific article published on 17 February 2020

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

artículo científico publicado en 2009

Phylloid hypermelanosis in a child with psychomotor delay, cicatricial alopecia, hearing loss and polythelia.

artículo científico publicado en 2012

Prostaglandin E2 -EP3 receptor subtype gene deletion in mother and son impairs platelet aggregation

artículo científico publicado en 2018

Review of a new subtype of hereditary angio-oedema with normal complement C1-inhibitor ⬇️

artículo científico publicado en 2018

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

artículo científico publicado en 2018

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3mutation ⬇️

artículo científico publicado el 5 de junio de 2011

Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype

artículo científico publicado en 2008

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

artículo científico publicado en 2013

Thermodynamic stability and denaturation kinetics of a benign natural transthyretin mutant identified in a Danish kindred.

artículo científico publicado en 2011

Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult

artículo científico publicado en 2012

[Array-comparative genomic hybridization is a new and promising method for prenatal chromosomal diagnosis] ⬇️

artículo científico publicado en 2014

[Endometrioid adenocarcinoma with a co-existing non-gestational choriocarcinoma in uterus] ⬇️

artículo científico publicado en 2019

Lista de obras de Christina Fagerberg

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2.

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration

Chromosomal Aberrations in Monozygotic and Dizygotic Twins Versus Singletons in Denmark During 1968-2009.

Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Heart defects and other features of the 22q11 distal deletion syndrome

Histiocytic disorders of the gastrointestinal tract.

Homozygosity for Arg1142Gln causes congenital myopathy with variable disease expression

How well do patient and general practitioner agree about the content of consultations?

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

Is MED13L-related intellectual disability a recognizable syndrome?

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect

PEDIA: prioritization of exome data by image analysis

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

Phylloid hypermelanosis in a child with psychomotor delay, cicatricial alopecia, hearing loss and polythelia.

Prostaglandin E2 -EP3 receptor subtype gene deletion in mother and son impairs platelet aggregation

Review of a new subtype of hereditary angio-oedema with normal complement C1-inhibitor ⬇️

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3mutation ⬇️

Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Thermodynamic stability and denaturation kinetics of a benign natural transthyretin mutant identified in a Danish kindred.

Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult

[Array-comparative genomic hybridization is a new and promising method for prenatal chromosomal diagnosis] ⬇️

[Endometrioid adenocarcinoma with a co-existing non-gestational choriocarcinoma in uterus] ⬇️

[Neuralgic amyotrophy is an overlooked diagnosis by sudden onset of shoulder pain] ⬇️