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    Results: 1 to 20 of 33

    1.

    Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.

    Houweling AC, Gille JJ, Baart JA, van Hagen JM, Lachmeijer AM.

    Clin Dysmorphol. 2009 Oct;18(4):225-7. No abstract available. PMID: 19623037 [PubMed - indexed for MEDLINE]Related articles

    2.

    Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

    de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC.

    Genet Med. 2009 Apr;11(4):241-7.PMID: 19282774 [PubMed - indexed for MEDLINE]Related articles

    3.

    A familial case of popliteal pterygium syndrome.

    Bertelè G, Mercanti M, Gangini GN, Carletti V.

    Minerva Stomatol. 2008 Jun;57(6):309-22. Review. English, Italian. PMID: 18617879 [PubMed - indexed for MEDLINE]Related articles

    4.

    A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

    de Medeiros F, Hansen L, Mawlad E, Eiberg H, Asklund C, Tommerup N, Jakobsen LP.

    Am J Med Genet A. 2008 Jun 15;146A(12):1605-8.PMID: 18478600 [PubMed - indexed for MEDLINE]Related articles

    5.

    Popliteal Pterygium syndrome.

    Gupta M, Jora R.

    Indian Pediatr. 2006 May;43(5):450-1. No abstract available. PMID: 16735771 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Popliteal pterygium syndrome with unusual features.

    Sasidharan CK, Ravi KV.

    Indian J Pediatr. 2004 Mar;71(3):269-70. Review.PMID: 15080416 [PubMed - indexed for MEDLINE]Related articles

    7.

    Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.

    Ghassibé M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

    J Med Genet. 2004 Feb;41(2):e15. No abstract available. PMID: 14757865 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    A case of familial popliteal pterygium syndrome: early surgical intervention for successful treatment.

    Gardetto A, Piza-Katzer H.

    Pediatr Surg Int. 2003 Oct;19(8):612-4. Epub 2003 Sep 5.PMID: 12961094 [PubMed - indexed for MEDLINE]Related articles

    9.

    Popliteal pterygium syndrome with syngnathia.

    Patel V, Theroux MC, Reilly J.

    Paediatr Anaesth. 2003 Jan;13(1):80-2.PMID: 12535046 [PubMed - indexed for MEDLINE]Related articles

    10.

    Endoscopic release of intraoral synechiae in popliteal pterygium syndrome.

    Schonauer F, La Rusca I, Sordino D, Settimi A, Molea G.

    Ann Plast Surg. 2002 Nov;49(5):550-2.PMID: 12439026 [PubMed - indexed for MEDLINE]Related articles

    11.

    Mixed clefting type in Rapp-Hodgkin syndrome.

    Neilson DE, Brunger JW, Heeger S, Bamshad M, Robin NH.

    Am J Med Genet. 2002 Apr 1;108(4):281-4.PMID: 11920831 [PubMed - indexed for MEDLINE]Related articles

    12.

    Popliteal pterygium associated with neonatal Marfan syndrome: case report.

    Derbent M, Gurakan B, Saygil A, Baltaci V, Balci S.

    Clin Dysmorphol. 2001 Jul;10(3):209-13.PMID: 11446416 [PubMed - indexed for MEDLINE]Related articles

    13.

    On the nosology of van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.

    Fryns JP, Devriendt K.

    Genet Couns. 2000;11(1):59-60. No abstract available. PMID: 10756431 [PubMed - indexed for MEDLINE]Related articles

    14.

    Facio-genito-popliteal syndrome presenting with bilateral choanal atresia and maxillary hypoplasia.

    Vandeweyer E, Urbain FC, DeMey A.

    Br J Plast Surg. 2000 Jan;53(1):65-7.PMID: 10657453 [PubMed - indexed for MEDLINE]Related articles

    15.

    Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32.

    Lees MM, Winter RM, Malcolm S, Saal HM, Chitty L.

    J Med Genet. 1999 Dec;36(12):888-92.PMID: 10593995 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Affective psychosis and Prader-Willi syndrome.

    Beardsmore A, Dorman T, Cooper SA, Webb T.

    J Intellect Disabil Res. 1998 Dec;42 ( Pt 6):463-71.PMID: 10030442 [PubMed - indexed for MEDLINE]Related articles

    17.

    Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization.

    Massoud AA, Ammaari AN, Khan AS, ven Katraman B, Teebi AS.

    Am J Med Genet. 1998 Aug 27;79(1):16-21. Review.PMID: 9738862 [PubMed - indexed for MEDLINE]Related articles

    18.

    Variable expression of the popliteal pterygium syndrome in two 3-generation families.

    Soekarman D, Cobben JM, Vogels A, Spauwen PH, Fryns JP.

    Clin Genet. 1995 Apr;47(4):169-74.PMID: 7628117 [PubMed - indexed for MEDLINE]Related articles

    19.

    Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia.

    Kumar A, Stalker HJ, Williams CA.

    Am J Med Genet. 1993 Mar 15;45(6):739-42. Review.PMID: 8456853 [PubMed - indexed for MEDLINE]Related articles

    20.

    Urological manifestations of the popliteal pterygium syndrome.

    Cunningham LN, Keating MA, Snyder HM, Duckett JW.

    J Urol. 1989 Apr;141(4):910-2.PMID: 2926888 [PubMed - indexed for MEDLINE]Related articles

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