P. Ostergaard

发表

Fetal hydrops – a review and a clinical approach to identifying the cause

S. Mansour, J. Simpson, T. Homfray, 2020 .

The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases

B. Keavney, Richard M. Monaghan, D. Page, 2020, Cardiovascular research.

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

S. Butz, Xiaoyi Jiang, S. Mansour, 2017, JCI insight.

Validation of a rapid and sensitive SARS-CoV-2 screening system developed for pandemic-scale infection surveillance

S. Kõks, J. Marimón, P. Ostergaard, 2021, medRxiv.

Genetic association analysis of 269 rare diseases reveals novel aetiologies

I. Yamanaka, S. Riazuddin, S. Mansour, 2022, medRxiv.

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

S. Mansour, G. Brice, F. Connell, 2013, Clinical genetics.

Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome.

S. Mansour, P. Mortimer, S. Heenan, 2019, Lymphatic research and biology.

Rapid identification of mutations in GJC2 in four limb primary lymphoedema using whole exome sequencing combined with linkage analysis

Alexandros, M. Simpson, R. Trembath, 2020 .

Mutations in EPHB4 cause human venous valve aplasia

Alberto Smith, B. Modarai, S. Mansour, 2021, JCI insight.

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Amna Z. Shah, H. Cordell, M. Simpson, 2020, PLoS Genetics.

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

S. Mansour, V. Mcconnell, P. Mortimer, 2018, International journal of molecular sciences.

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

S. McCall, G. Brice, P. Mortimer, 2007, Clinical genetics.

Human venous valve disease caused by mutations in FOXC2 and GJC2

Alberto Smith, B. Modarai, S. Mansour, 2017, The Journal of experimental medicine.

Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors

M. Gonzalez-Garay, K. Herbst, Y. Klimentidis, 2022, European Journal of Human Genetics.

Genetic Disorders of the Lymphatic System

S. Mansour, P. Ostergaard, S. Martin-Almedina, 2020 .

FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

S. Mansour, G. Brice, P. Mortimer, 2013, Human mutation.

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

B. Tüysüz, H. Yetik, P. Ostergaard, 2018, Molecular Syndromology.

Development and Physiological Functions of the Lymphatic System - Insights from Genetic Studies of Lymphedema.

P. Mortimer, P. Ostergaard, S. Martin-Almedina, 2021, Physiological reviews.

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

G. Mufti, T. Vulliamy, R. Keenan, 2010, American journal of medical genetics. Part A.

Lipedema: An inherited condition

A. Child, G. Brice, P. Mortimer, 2010, American journal of medical genetics. Part A.

A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema

R. Maroofian, A. Crosby, P. Ostergaard, 2017 .

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome

S. Mansour, G. Brice, R. Nagaraja, 2015, European Journal of Human Genetics.

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

Sahar Mansour, Glen Brice, S. Mansour, 2015, European Journal of Human Genetics.

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

S. Mansour, T. Homfray, G. Brice, 2010, Human Genetics.

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

Shin Lin, M. Snyder, M. Simpson, 2015, Nature Communications.

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

M. Simpson, S. Jeffery, P. Ostergaard, 2011, Clinical genetics.

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

Sahar Mansour, Richard Trembath, Glen Brice, 2011, Journal of Medical Genetics.

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

Liqun He, Andrea Taddei, Maike Frye, 2018, Nature Communications.

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

S. Mansour, P. Ostergaard, S. Martin-Almedina, 2018, The Journal of physiology.

Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly.

S. Mansour, Nikolas Pontikos, G. Arno, 2019, American journal of ophthalmology.

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Stephanie E. Vallee, S. Bale, M. Kilby, 2021, Genetics in Medicine.

Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

S. Mansour, P. Mortimer, S. Jeffery, 2020, Journal of Medical Genetics.

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

Sahar Mansour, Richard C Trembath, Russell Keenan, 2011, Nature Genetics.

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

M. Simpson, M. Vikkula, R. Trembath, 2012, American journal of human genetics.

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

S. Mansour, G. Brice, P. Mortimer, 2009, Human Genetics.

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

S. Mansour, G. Brice, P. Mortimer, 2009, Human Genetics.

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

D. Wieczorek, S. Mansour, A. Moore, 2013, European Journal of Human Genetics.

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

A. Hoischen, Shin Lin, M. Snyder, 2016, The Journal of clinical investigation.

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

M. Simpson, S. Mansour, G. Brice, 2013, Circulation research.

Pit-1 mutation and lipoedema in a family.

S. Mansour, G. Brice, P. Mortimer, 2009, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

B. Gelb, I. Yamanaka, S. Riazuddin, 2023, Nature Medicine.

Systematic Review of Magnetic Resonance Lymphangiography From a Technical Perspective

M. Borri, F. Howe, P. Mortimer, 2021, Journal of magnetic resonance imaging : JMRI.

Three children with Milroy disease and de novo mutations in VEGFR3

S. Mansour, G. Brice, P. Mortimer, 2007, Clinical genetics.

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family

S. Jeffery, F. Hazan, F. Ozkinay, 2012, American journal of medical genetics. Part A.

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

Véronique Geoffroy, Corinne Stoetzel, Uwe Strähle, 2015, American journal of human genetics.

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

S. Mansour, G. Brice, V. Murday, 2012, Clinical genetics.

A Mutation in VEGFC, a Ligand for VEGFR3, is Associated with Autosomal Dominant Milroy-like Primary Lymphedema

M. Simpson, S. Mansour, G. Brice, 2013 .

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

S. Mansour, G. Brice, S. Jeffery, 2013, Clinical genetics.

Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts

S. Mansour, P. Mortimer, S. Jeffery, 2021, Journal of Medical Genetics.

Investigation of clinical characteristics and genome associations in the ‘UK Lipoedema’ cohort

D. Savage, A. Pittman, G. Brice, 2021, medRxiv.

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

G. Holder, S. Mansour, A. Moore, 2016, Acta ophthalmologica.

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

S. Mansour, G. Brice, F. Connell, 2013, Circulation research.

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

S. Mansour, G. Brice, P. Mortimer, 2015, European Journal of Human Genetics.

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

G. Mufti, T. Vulliamy, R. Keenan, 2010, American journal of medical genetics. Part A.

FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

S. Mansour, G. Brice, P. Mortimer, 2013, Human mutation.