List of works - Pia Ostergaard

A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR

scientific article published on 20 July 2018

A Novel Splice-Site Mutation in Is Associated with Congenital Primary Lymphoedema of Gordon

scientific article published on 01 August 2018

A family with lymphoedema-distichiasis where identical twins have a discordant phenotype

scientific article published on 01 March 2007

A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.

scientific article published on 26 April 2013

A novelKIF11mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family

scientific article published on 31 May 2012

Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas

scientific article published on 12 November 2008

Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

scientific article published on 26 April 2019

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis

scientific article published on 01 February 2012

Catalogue of genera and species of the family Chondracanthidae Milne Edwards, 1840 (Copepoda: Poecilostomatoida) with notes on morphology.

scientific article

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly

scientific article published on 08 May 2019

Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema

scientific article published in 2021

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

scientific article

Emberger syndrome-Primary lymphedema with myelodysplasia: Report of seven new cases

scientific article published on 20 August 2010

FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

scientific article published on 16 October 2012

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

scientific article published on 13 January 2018

Human venous valve disease caused by mutations in FOXC2 and GJC2.

scientific article

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

scientific article

Lipedema: An inherited condition

scientific article published on 01 April 2010

Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome

scientific article published on 13 November 2019

Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.

scientific article published on 13 June 2011

Matrix stiffness controls lymphatic vessel formation through regulation of a GATA2-dependent transcriptional program.

scientific article published on 17 April 2018

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

scientific article

Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.

scientific article published on 14 February 2013

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

article by Pia Ostergaard et al published 4 September 2011 in Nature Genetics

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

scientific article published on 26 January 2012

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

scientific article

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

scientific article

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.

scientific article published on 21 May 2015

Pit-1 Mutation and Lipoedema in a Family

scientific article published on 16 July 2009

The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

scientific article published on 27 June 2013

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome

scientific article published on 05 August 2015

The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review

scientific article

The phylogeny of the Schistosomatidae based on three genes with emphasis on the interrelationships of Schistosoma Weinland, 1858.

scientific article

Three children with Milroy disease and de novo mutations in VEGFR3

VIPAR, a quantitative approach to 3D histopathology applied to lymphatic malformations

scientific article

List of works by Pia Ostergaard

A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR

A Novel Splice-Site Mutation in Is Associated with Congenital Primary Lymphoedema of Gordon

A family with lymphoedema-distichiasis where identical twins have a discordant phenotype

A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.

A novelKIF11mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family

Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas

Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis

Catalogue of genera and species of the family Chondracanthidae Milne Edwards, 1840 (Copepoda: Poecilostomatoida) with notes on morphology.

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly

Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

Emberger syndrome-Primary lymphedema with myelodysplasia: Report of seven new cases

FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

Human venous valve disease caused by mutations in FOXC2 and GJC2.

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

Lipedema: An inherited condition

Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome

Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.

Matrix stiffness controls lymphatic vessel formation through regulation of a GATA2-dependent transcriptional program.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.

Pit-1 Mutation and Lipoedema in a Family

The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome

The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review

The phylogeny of the Schistosomatidae based on three genes with emphasis on the interrelationships of Schistosoma Weinland, 1858.

Three children with Milroy disease and de novo mutations in VEGFR3

VIPAR, a quantitative approach to 3D histopathology applied to lymphatic malformations