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Literature citations Results

Citation
Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.

Bell R., Murday V.A., Patton M.A., Jeffery S.

Genet. Test. 5:335-338(2001) · Mapped (6)

T594M mutation of the beta-subunit of the epithelial sodium channel in Ghanaian populations from Kumasi and London and a possible association with hypertension.

Dong Y.B., Plange-Rhule J., Owusu I., Micah F., Eastwood J.B., Carter N.D., Saggar-Malik A.K., Cappuccio F.P., Jeffery S.

Genet. Test. 6:63-65(2002) · Mapped (4)

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Afzal A.R., Rajab A., Fenske C.D., Oldridge M., Elanko N., Ternes-Pereira E., Tueysuez B., Murday V.A., Patton M.A., Wilkie A.O.M. et al.

Nat. Genet. 25:419-422(2000) · UniProtKB (1) · Mapped (5)

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

Ostergaard P., Simpson M.A., Brice G., Mansour S., Connell F.C., Onoufriadis A., Child A.H., Hwang J., Kalidas K., Mortimer P.S. et al.

J. Med. Genet. 48:251-255(2011) · Mapped (2)

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M., Kalidas K., Shaw A., Song X., Musat D.L., van der Burgt I., Brunner H.G., Bertola D.R., Crosby A.H., Ion A. et al.

Am. J. Hum. Genet. 70:1555-1563(2002) · UniProtKB (1) · Mapped (5)

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.

Rezaie T., Ghoroghchian R., Bell R., Brice G., Hasan A., Burnand K., Vernon S., Mansour S., Mortimer P., Jeffery S. et al.

Eur. J. Hum. Genet. 16:300-304(2008) · Mapped (7)

Polymorphism of renin-angiotensin system genes in dialysis patients--association with cerebrovascular disease.

Losito A., Kalidas K., Santoni S., Ceccarelli L., Jeffery S.

Nephrol. Dial. Transplant. 17:2184-2188(2002) · Mapped (6)

Pit-1 mutation and lipoedema in a family.

Bano G., Mansour S., Brice G., Ostergaard P., Mortimer P.S., Jeffery S., Nussey S.

Exp. Clin. Endocrinol. Diabetes 118:377-380(2010) · Mapped (2)

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

Afzal A.R., Jeffery S.

Hum. Mutat. 22:1-11(2003) · Mapped (4)

Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

Ali B.R., Jeffery S., Patel N., Tinworth L.E., Meguid N., Patton M.A., Afzal A.R.

Hum. Genet. 122:389-395(2007) · Mapped (4)

Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

Afzal A.R., Florencio R.N., Taylor R., Patton M.A., Saggar-Malik A., Jeffery S.

Genet. Test. 4:365-370(2000) · UniProtKB (1)

Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.

Afzal A.R., Hand M., Ternes-Pereira E., Saggar-Malik A., Taylor R., Jeffery S.

Hum. Genet. 105:648-653(1999) · UniProtKB (1)

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

Fotiou E., Martin-Almedina S., Simpson M.A., Lin S., Gordon K., Brice G., Atton G., Jeffery I., Rees D.C., Mignot C. et al.

Nat. Commun. 6:8085-8085(2015) · UniProtKB (1) · Mapped (2)

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Tartaglia M., Mehler E.L., Goldberg R., Zampino G., Brunner H.G., Kremer H., van der Burgt I., Crosby A.H., Ion A., Jeffery S. et al.

Nat. Genet. 29:465-468(2001) · UniProtKB (1)

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

Ostergaard P., Simpson M.A., Mendola A., Vasudevan P., Connell F.C., van Impel A., Moore A.T., Loeys B.L., Ghalamkarpour A., Onoufriadis A. et al.

Am. J. Hum. Genet. 90:356-362(2012) · UniProtKB (1) · Mapped (2)

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

Ostergaard P., Simpson M.A., Connell F.C., Steward C.G., Brice G., Woollard W.J., Dafou D., Kilo T., Smithson S., Lunt P. et al.

Nat. Genet. 43:929-931(2011) · UniProtKB (1) · Mapped (1)

Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency.

Mellor R.H., Tate N., Stanton A.W., Hubert C., Makinen T., Smith A., Burnand K.G., Jeffery S., Levick J.R., Mortimer P.S.

J. Vasc. Res. 48:397-407(2011) · Mapped (7)

Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb.

Lymphoedema Research Consortium
Mellor R.H., Brice G., Stanton A.W., French J., Smith A., Jeffery S., Levick J.R., Burnand K.G., Mortimer P.S.

Circulation 115:1912-1920(2007) · Mapped (7)

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.

Gordon K., Schulte D., Brice G., Simpson M.A., Roukens M.G., van Impel A., Connell F., Kalidas K., Jeffery S., Mortimer P.S. et al.

Circ. Res. 112:956-960(2013) · UniProtKB (1) · Mapped (1)

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

Jones G.E., Ostergaard P., Moore A.T., Connell F.C., Williams D., Quarrell O., Brady A.F., Spier I., Hazan F., Moldovan O. et al.

Eur. J. Hum. Genet. 22:881-887(2014) · Mapped (3)

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

Connell F., Kalidas K., Ostergaard P., Brice G., Homfray T., Roberts L., Bunyan D.J., Mitton S., Mansour S., Mortimer P. et al.

Hum. Genet. 127:231-241(2010) · UniProtKB (1)

Lack of association of ACE/angiotensinogen genotype with renal function in autosomal dominant polycystic kidney disease.

Saggar-Malik A.K., Afzal A.R., Swissman J.S., Bland M., Sagnella G.A., Eastwood J.B., MacGregor G.A., Jeffery S.

Genet. Test. 4:299-303(2000) · Mapped (14)

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

McKoy G., Protonotarios N., Crosby A., Tsatsopoulou A., Anastasakis A., Coonar A., Norman M., Baboonian C., Jeffery S., McKenna W.J.

Lancet 355:2119-2124(2000) · UniProtKB (1)

Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy.

Mahon N.G., Coonar A.S., Jeffery S., Coccolo F., Akiyu J., Zal B., Houlston R., Levin G.E., Baboonian C., McKenna W.J.

Heart 84:541-547(2000) · Mapped (1)

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Kalidas K., Shaw A.C., Crosby A.H., Newbury-Ecob R., Greenhalgh L., Temple I.K., Law C., Patel A., Patton M.A., Jeffery S.

J. Hum. Genet. 50:21-25(2005) · UniProtKB (1)

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