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Journal Abstract Search

260 related items for PubMed ID: 12210298

  • 1. Diagnostic dilemmas in the short rib-polydactyly syndrome group.
    Elçioglu NH, Hall CM.
    Am J Med Genet; 2002 Sep 01; 111(4):392-400. PubMed ID: 12210298
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  • 3. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
    Krakow D, Salazar D, Wilcox WR, Rimoin DL, Cohn DH.
    Eur J Hum Genet; 2000 Aug 01; 8(8):645-8. PubMed ID: 10951528
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  • 4. Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.
    Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP.
    Am J Med Genet; 1995 Nov 20; 59(3):359-64. PubMed ID: 8599362
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  • 6. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
    Cavalcanti DP, Huber C, Sang KH, Baujat G, Collins F, Delezoide AL, Dagoneau N, Le Merrer M, Martinovic J, Mello MF, Vekemans M, Munnich A, Cormier-Daire V.
    J Med Genet; 2011 Feb 20; 48(2):88-92. PubMed ID: 19648123
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  • 8. Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study.
    Moerman P, Fryns JP.
    Genet Couns; 1998 Feb 20; 9(1):39-43. PubMed ID: 9555586
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  • 9. De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes.
    Chen H, Mirkin D, Yang S.
    Am J Med Genet; 1994 Nov 01; 53(2):165-71. PubMed ID: 7856642
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  • 10. Overlap between Majewski and hydrolethalus syndromes: a report of two cases.
    Sharma AK, Phadke S, Chandra K, Upreti M, Khan EM, Naveed M, Agarwal SS.
    Am J Med Genet; 1992 Aug 01; 43(6):949-53. PubMed ID: 1415345
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  • 12. [From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].
    van Hagen JM, Baart JA, Gille JJ.
    Ned Tijdschr Geneeskd; 2005 Apr 23; 149(17):929-31. PubMed ID: 15884406
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  • 13. Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.
    Urioste M, Martínez-Frías ML, Bermejo E, Jiménez N, Romero D, Nieto C, Villa A.
    Am J Med Genet; 1994 Jan 01; 49(1):94-7. PubMed ID: 7909650
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  • 16. Short rib-polydactyly syndrome.
    Naki MM, Gür D, Zemheri E, Tekcan C, Kanadikirik F, Has R.
    Arch Gynecol Obstet; 2005 Jul 01; 272(2):173-5. PubMed ID: 15605271
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  • 17. Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.
    Badiner N, Taylor SP, Forlenza K, Lachman RS, University of Washington Center for Mendelian GenomicsUniversity of Washington Center for Mendelian Genomics, Seattle, WA, USA., Bamshad M, Nickerson D, Cohn DH, Krakow D.
    Clin Genet; 2017 Aug 01; 92(2):158-165. PubMed ID: 27925158
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  • 20. Discordance for Ellis-van Creveld syndrome in twins.
    Thapa R, Mukhopadhyay M, Bhattacharya A.
    Singapore Med J; 2008 Dec 01; 49(12):e369-71. PubMed ID: 19122938
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