about
The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature reviewEPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.The phylogeny of the Schistosomatidae based on three genes with emphasis on the interrelationships of Schistosoma Weinland, 1858.Catalogue of genera and species of the family Chondracanthidae Milne Edwards, 1840 (Copepoda: Poecilostomatoida) with notes on morphology.Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.VIPAR, a quantitative approach to 3D histopathology applied to lymphatic malformations.Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.Human venous valve disease caused by mutations in FOXC2 and GJC2.Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.Matrix stiffness controls lymphatic vessel formation through regulation of a GATA2-dependent transcriptional program.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)A Novel Splice-Site Mutation in Is Associated with Congenital Primary Lymphoedema of GordonA novelKIF11mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous familyCCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalisEmberger syndrome-Primary lymphedema with myelodysplasia: Report of seven new casesPit-1 Mutation and Lipoedema in a FamilyLipedema: An inherited conditionA family with lymphoedema-distichiasis where identical twins have a discordant phenotypeThree children with Milroy disease and de novo mutations in VEGFR3Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisLymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis SyndromeA Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMRClinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly
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P50
description
hulumtuese
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wetenschapper
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հետազոտող
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Pia Ostergaard
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Pia Ostergaard
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Pia Ostergaard
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Pia Ostergaard
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Pia Ostergaard
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Pia Ostergaard
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Pia Ostergaard
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Ostergaard P
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Østergaard P
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Pia Ostergaard
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Pia Ostergaard
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Pia Ostergaard
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Pia Ostergaard
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Pia Ostergaard
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P106
P1153
15837814100
P21
P31
P496
0000-0002-2190-1356
P569
2000-01-01T00:00:00Z