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PubMed Links for Books (Select 1482570)


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

Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S.

Eur J Hum Genet. 2014 Jul;22(7):881-7. doi: 10.1038/ejhg.2013.263. Epub 2013 Nov 27.


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

Connell FC, Gordon K, Brice G, Keeley V, Jeffery S, Mortimer PS, Mansour S, Ostergaard P.

Clin Genet. 2013 Oct;84(4):303-14. doi: 10.1111/cge.12173. Epub 2013 Jun 27. Review.


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 MA, Roukens MG, van Impel A, Connell F, Kalidas K, Jeffery S, Mortimer PS, Mansour S, Schulte-Merker S, Ostergaard P.

Circ Res. 2013 Mar 15;112(6):956-60. doi: 10.1161/CIRCRESAHA.113.300350. Epub 2013 Feb 14.


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

Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, Taylor R, Jeffery S, Mortimer PS, Mansour S, Ostergaard P.

Hum Mutat. 2013 Jan;34(1):23-31. doi: 10.1002/humu.22223. Epub 2012 Oct 16. Review.


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

Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S.

Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26.


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

Connell FC, Ostergaard P, Carver C, Brice G, Williams N, Mansour S, Mortimer PS, Jeffery S; Lymphoedema Consortium.

Hum Genet. 2009 Jan;124(6):625-31. doi: 10.1007/s00439-008-0586-5. Epub 2008 Nov 12. Erratum in: Hum Genet. 2009 Mar;125(2):237.


Yellow nail syndrome: analysis of 41 consecutive patients.

Maldonado F, Tazelaar HD, Wang CW, Ryu JH.

Chest. 2008 Aug;134(2):375-81. doi: 10.1378/chest.08-0137. Epub 2008 Apr 10.


Yellow nail syndrome: not a genetic disorder? Eleven new cases and a review of the literature.

Hoque SR, Mansour S, Mortimer PS.

Br J Dermatol. 2007 Jun;156(6):1230-4. Epub 2007 Apr 25. Review.


Three children with Milroy disease and de novo mutations in VEGFR3.

Carver C, Brice G, Mansour S, Ostergaard P, Mortimer P, Jeffery S; Lymphodema Consortium.

Clin Genet. 2007 Feb;71(2):187-9. No abstract available.


Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

Ghalamkarpour A, Morlot S, Raas-Rothschild A, Utkus A, Mulliken JB, Boon LM, Vikkula M.

Clin Genet. 2006 Oct;70(4):330-5.


Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema.

Daniel-Spiegel E, Ghalamkarpour A, Spiegel R, Weiner E, Vikkula M, Shalev E, Shalev SA.

Prenat Diagn. 2005 Nov;25(11):1015-8.


Milroy disease and the VEGFR-3 mutation phenotype.

Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P.

J Med Genet. 2005 Feb;42(2):98-102. Review.


Turner's syndrome.

Sybert VP, McCauley E.

N Engl J Med. 2004 Sep 16;351(12):1227-38. Review. No abstract available.


Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

Evans AL, Bell R, Brice G, Comeglio P, Lipede C, Jeffery S, Mortimer P, Sarfarazi M, Child AH.

J Med Genet. 2003 Sep;40(9):697-703. No abstract available.


Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M.

Am J Hum Genet. 2003 Jun;72(6):1470-8. Epub 2003 May 8.


Turner syndrome in childhood and adolescence.

Batch J.

Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):465-82. Review.


Prenatal diagnosis of Milroy's primary congenital lymphedema.

Makhoul IR, Sujov P, Ghanem N, Bronshtein M.

Prenat Diagn. 2002 Sep;22(9):823-6.


A model for gene therapy of human hereditary lymphedema.

Karkkainen MJ, Saaristo A, Jussila L, Karila KA, Lawrence EC, Pajusola K, Bueler H, Eichmann A, Kauppinen R, Kettunen MI, Yla-Herttuala S, Finegold DN, Ferrell RE, Alitalo K.

Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12677-82. Epub 2001 Oct 9.


Prenatal diagnosis of Nonne-Milroy lymphedema.

Franceschini P, Licata D, Rapello G, Guala A, Di Cara G, Franceschini D.

Ultrasound Obstet Gynecol. 2001 Aug;18(2):182-3. No abstract available.


VEGFR3 gene structure, regulatory region, and sequence polymorphisms.

Iljin K, Karkkainen MJ, Lawrence EC, Kimak MA, Uutela M, Taipale J, Pajusola K, Alhonen L, Halmekytö M, Finegold DN, Ferrell RE, Alitalo K.

FASEB J. 2001 Apr;15(6):1028-36.

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