Serveur d'exploration sur le lymphœdème - Analysis (UK)

Index « Auteurs » - entrée « S. Jeffery »
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List of bibliographic references

Number of relevant bibliographic references: 15.
Ident.Authors (with country if any)Title
000440 (2013) Fc Connell [Royaume-Uni] ; K. Gordon [Royaume-Uni] ; G. Brice [Royaume-Uni] ; V. Keeley [Royaume-Uni] ; S. Jeffery [Royaume-Uni] ; Ps Mortimer [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; P. Ostergaard [Royaume-Uni]The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings
000477 (2013) G. Brice [Royaume-Uni] ; P. Ostergaard ; S. Jeffery ; K. Gordon [Royaume-Uni] ; Ps Mortimer [Royaume-Uni] ; S. MansourA novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family
000582 (2012) Fc Connell [Royaume-Uni] ; K. Kalidas ; P. Ostergaard ; G. Brice [Royaume-Uni] ; V. Murday [Royaume-Uni] ; Ps Mortimer ; I. Jeffrey [Royaume-Uni] ; S. Jeffery ; Sahar Mansour [Royaume-Uni]CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non‐immune hydrops fetalis
000675 (2011) P. Ostergaard [Royaume-Uni] ; Ma Simpson [Royaume-Uni] ; S. Jeffery [Royaume-Uni]Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit
000786 (2010) F. Connell ; G. Brice [Royaume-Uni] ; S. Jeffery ; V. Keeley [Royaume-Uni] ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; S. Mansour [Royaume-Uni]A new classification system for primary lymphatic dysplasias based on phenotype
000A00 (2007) C. Carver ; G. Brice ; S. Mansour ; P. Ostergaard ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; S. JefferyThree children with Milroy disease and de novo mutations in VEGFR3
000A01 (2007) A C Shaw [Royaume-Uni] ; K. Kalidas [Royaume-Uni] ; A H Crosby [Royaume-Uni] ; S. Jeffery [Royaume-Uni] ; M A Patton [Royaume-Uni]The natural history of Noonan syndrome: a long-term follow-up study
000A30 (2007) S. Kumar [Arabie saoudite] ; C. Carver ; S. Mccall ; G. Brice ; P. Ostergaard ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; S. Jeffery [Royaume-Uni]A family with lymphoedema‐distichiasis where identical twins have a discordant phenotype
000B59 (2005) G. Brice [Royaume-Uni] ; A H Child [Royaume-Uni] ; A. Evans [Royaume-Uni] ; R. Bell [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; K. Burnand [Royaume-Uni] ; M. Sarfarazi [États-Unis] ; S. Jeffery [Royaume-Uni] ; Peter Mortimer (dermatologue)‎ [Royaume-Uni]Milroy disease and the VEGFR-3 mutation phenotype
000C91 (2003) A L Evans [Royaume-Uni] ; R. Bell ; G. Brice [Royaume-Uni] ; P. Comeglio [Royaume-Uni] ; C. Lipede ; S. Jeffery ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; M. Sarfarazi [États-Unis] ; A H Child [Royaume-Uni]Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema
000D52 (2002) S. Jeffery [Royaume-Uni]How double eyelashes give you swollen legs
000D65 (2002) G. Brice [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; R. Bell [Royaume-Uni] ; J R O. Collin [Royaume-Uni] ; A H Child [Royaume-Uni] ; A F Brady [Royaume-Uni] ; M. Sarfarazi [États-Unis] ; K G Burnand [Royaume-Uni] ; S. Jeffery [Royaume-Uni] ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; V A Murday [Royaume-Uni]Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24
000E70 (2001) R. Bell [Royaume-Uni] ; G. Brice [Royaume-Uni] ; A. H. Child [Royaume-Uni] ; V. A. Murday [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; C. J. Sandy [Royaume-Uni] ; J. R. O. Collin [Royaume-Uni] ; A. F. Brady [Royaume-Uni] ; D. F. Callen [Australie] ; K. Burnand [Royaume-Uni] ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; S. Jeffery [Royaume-Uni]Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
000F09 (2000) R. Bell ; G. Brice ; A H Child ; V A Murday ; S. Mansour ; C J Sandy ; J R O. Collin ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; D F Callen ; K. Burnand ; S. JefferyReduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb
001031 (1999) J. Mangion [Royaume-Uni] ; N. Rahman [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; G. Brice [Royaume-Uni] ; J. Rosbotham [Royaume-Uni] ; A. H. Child [Royaume-Uni] ; V. A. Murday [Royaume-Uni] ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; R. Barfoot [Royaume-Uni] ; A. Sigurdsson [Royaume-Uni] ; S. Edkins [Royaume-Uni] ; M. Sarfarazi ; K. Burnand [Royaume-Uni] ; A. L. Evans [Royaume-Uni] ; T. O. Nunan [Royaume-Uni] ; M. R. Stratton [Royaume-Uni] ; S. Jeffery [Royaume-Uni]A Gene for Lymphedema-Distichiasis Maps to 16q24.3

List of associated KwdEn.i

Nombre de
documents
Descripteur
14Humans
12Lymphedema (genetics)
11Female
10Male
9Lymphedema (diagnosis)
8Phenotype
7Mutation
6Lymphedema
5Child, Preschool
5Human
5Infant
5Pedigree
4Adult
4Distichiasis
4Eyelashes (abnormalities)
4Family study
4Lymphedema (pathology)
3Child
3Chromosomes, Human, Pair 16 (genetics)
3DNA (genetics)
3Family Health
3Lymphedema (congenital)
3Syndrome
3Vascular Endothelial Growth Factor Receptor-3 (genetics)
2Abnormalities, Multiple (genetics)
2Adolescent
2Age of Onset
2Chromosome E16
2Craniofacial Abnormalities (diagnosis)
2Craniofacial Abnormalities (genetics)
2DNA (chemistry)
2DNA Mutational Analysis
2DNA-Binding Proteins (genetics)
2Eyelid Diseases (genetics)
2Eyelid Diseases (pathology)
2Forkhead Transcription Factors
2Gene
2Genetic Linkage (genetics)
2Genetic determinism
2Genetics
2Haplotypes
2Identification
2Linkage
2Lymphedema (classification)
2Sequence Deletion
2Transcription Factors (genetics)
2VEGFR-3
1Abnormalities, Multiple (diagnostic imaging)
1Algorithms
1Amino Acid Substitution
1Calcium-Binding Proteins (genetics)
1Chromosome 16
1Classification
1Congenital
1Connexin 43 (genetics)
1Deletion
1Diagnosis, Differential
1Diseases in Twins (diagnosis)
1Diseases in Twins (genetics)
1Diseases in Twins (pathology)
1Dysplasia
1Edema (pathology)
1Exons
1Eye Abnormalities (diagnosis)
1Eye Abnormalities (genetics)
1Eyelashes (diagnostic imaging)
1FOXC2
1Facies
1Fetus
1Foot Deformities, Congenital (diagnosis)
1Foot Deformities, Congenital (genetics)
1Forkhead Transcription Factors (genetics)
1Genes
1Genetic Linkage
1Genetic Markers (genetics)
1Genetic Predisposition to Disease
1Genetic mapping
1Genital Diseases, Male (diagnosis)
1Genital Diseases, Male (genetics)
1Genome
1Genotype
1HCM, hypertrophic cardiomyopathy
1Heterozygote Detection
1High-Throughput Nucleotide Sequencing (methods)
1Hydrops Fetalis (diagnosis)
1Hydrops Fetalis (genetics)
1Infant, Newborn
1Insertion
1Locus
1Long arm
1Lymph node
1Lymphangiectasis
1Lymphangiectasis, Intestinal (diagnosis)
1Lymphangiectasis, Intestinal (genetics)
1Lymphatic
1Lymphatic Abnormalities (diagnosis)
1Lymphatic Abnormalities (genetics)
1Lymphatic system
1Lymphedema (complications)
1Lymphedema (diagnostic imaging)

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