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    Results: 1 to 20 of 37

    1.

    VACTERL/VATER Association.

    Solomon BD.

    Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Review.

    PMID:
    21846383
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings.

    Demirel G, Oguz SS, Celik IH, Yilmaz Y, Uras N, Erdeve O, Dilmen U.

    Genet Couns. 2010;21(4):405-9.

    PMID:
    21290970
    [PubMed - indexed for MEDLINE]
    3.

    Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia.

    Aboud MJ, Al-Shamsy MM.

    Pediatr Surg Int. 2011 Jun;27(6):567-71. doi: 10.1007/s00383-010-2831-y.

    PMID:
    21259013
    [PubMed - indexed for MEDLINE]
    4.

    New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

    Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG.

    Eur J Med Genet. 2011 Jan-Feb;54(1):42-9. doi: 10.1016/j.ejmg.2010.10.002. Epub 2010 Oct 15.

    PMID:
    20951845
    [PubMed - indexed for MEDLINE]
    5.

    Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.

    Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti Vanmarcke R, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR.

    Am J Med Genet A. 2010 Oct;152A(10):2493-504. doi: 10.1002/ajmg.a.33618.

    PMID:
    20799323
    [PubMed - indexed for MEDLINE]
    6.

    Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage.

    Chaouachi S, Ben Hamida E, Ennine I, Chaabouni M, Sfar R, Chaabouni H, Marrakchi Z.

    Tunis Med. 2010 Aug;88(8):614-6.

    PMID:
    20711972
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    Unusual facial cleft in Fryns syndrome: defect of stomodeum?

    Girisha KM, Bhat P, Adiga PK, Pai AH, Rai L.

    Genet Couns. 2010;21(2):233-6.

    PMID:
    20681225
    [PubMed - indexed for MEDLINE]
    8.

    Tissue distribution and functional analysis of Sushi domain-containing protein 4.

    Tu Z, Cohen M, Bu H, Lin F.

    Am J Pathol. 2010 May;176(5):2378-84. doi: 10.2353/ajpath.2010.091036. Epub 2010 Mar 26.

    PMID:
    20348246
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.

    Dentici ML, Brancati F, Mingarelli R, Dallapiccola B.

    Eur J Med Genet. 2009 Nov-Dec;52(6):421-5. doi: 10.1016/j.ejmg.2009.09.008. Epub 2009 Oct 1.

    PMID:
    19800039
    [PubMed - indexed for MEDLINE]
    10.

    Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?

    Parisi MA, Zayed H, Slavotinek AM, Rutledge JC.

    Am J Med Genet A. 2009 Jun;149A(6):1237-40. doi: 10.1002/ajmg.a.32684.

    PMID:
    19449404
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Associated malformations in patients with esophageal atresia.

    Stoll C, Alembik Y, Dott B, Roth MP.

    Eur J Med Genet. 2009 Sep-Oct;52(5):287-90. doi: 10.1016/j.ejmg.2009.04.004. Epub 2009 May 4.

    PMID:
    19410022
    [PubMed - indexed for MEDLINE]
    12.

    Recurrent cystic hygroma with hydrops.

    Baxi L, Brown S, Desai K, Thaker H.

    Fetal Diagn Ther. 2009;25(1):127-9. doi: 10.1159/000207553. Epub 2009 Mar 11.

    PMID:
    19276638
    [PubMed - indexed for MEDLINE]
    13.

    Associated malformations in cases with congenital diaphragmatic hernia.

    Stoll C, Alembik Y, Dott B, Roth MP.

    Genet Couns. 2008;19(3):331-9.

    PMID:
    18990989
    [PubMed - indexed for MEDLINE]
    14.

    Fryns syndrome: case report and review of the literature.

    Yucesoy G, Cakiroglu Y, Caliskan E.

    J Clin Ultrasound. 2008 Jun;36(5):315-7.

    PMID:
    17960800
    [PubMed - indexed for MEDLINE]
    15.

    The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

    Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.

    Genet Med. 2007 Sep;9(9):607-16. Review.

    PMID:
    17873649
    [PubMed - indexed for MEDLINE]
    16.

    Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.

    Klaassens M, Galjaard RJ, Scott DA, Brüggenwirth HT, van Opstal D, Fox MV, Higgins RR, Cohen-Overbeek TE, Schoonderwaldt EM, Lee B, Tibboel D, de Klein A.

    Am J Med Genet A. 2007 Sep 15;143A(18):2204-12. Review.

    PMID:
    17702015
    [PubMed - indexed for MEDLINE]
    17.

    Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others.

    Chen CP.

    Taiwan J Obstet Gynecol. 2007 Jun;46(2):111-20. Review.

    PMID:
    17638618
    [PubMed - indexed for MEDLINE]
    18.

    Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1.

    Chen CP, Wang TH, Chen YJ, Chang TY, Liu YP, Tzen CY, Chern SR, Wang W.

    Prenat Diagn. 2007 Oct;27(10):967-9. No abstract available.

    PMID:
    17602449
    [PubMed - indexed for MEDLINE]
    19.

    Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics.

    Kantarci S, Donahoe PK.

    Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):217-26. Review.

    PMID:
    17436295
    [PubMed - indexed for MEDLINE]
    20.

    Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins.

    Pratap A, Agrawal A, Raja S, Khaniya S, Tiwari A, Kumar A.

    Singapore Med J. 2007 Apr;48(4):e106-8.

    PMID:
    17384863
    [PubMed - indexed for MEDLINE]
    Free Article

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