BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

137 related articles for article (PubMed ID: 12643234)

  • 1. Ophthalmo-acromelic syndrome in a Turkish infant: case report.
    Caksen H; Odabas D; Oner AF; Abuhandan M; Calebi V
    East Afr Med J; 2002 Jun; 79(6):339-40. PubMed ID: 12643234
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Ophthalmo-acromelic syndrome.
    Le Merrer M; Nessmann C; Briard ML; Maroteaux P
    Ann Genet; 1988; 31(4):226-9. PubMed ID: 3146242
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ophthalmo-acromelic syndrome: report and review.
    Tekin M; Tutar E; Arsan S; Atay G; Bodurtha J
    Am J Med Genet; 2000 Jan; 90(2):150-4. PubMed ID: 10607955
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg.
    Richieri-Costa A; Gollop TR; Otto PG
    Am J Med Genet; 1983 Apr; 14(4):607-15. PubMed ID: 6846395
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.
    Hamanoue H; Megarbane A; Tohma T; Nishimura A; Mizuguchi T; Saitsu H; Sakai H; Miura S; Toda T; Miyake N; Niikawa N; Yoshiura K; Hirahara F; Matsumoto N
    Am J Med Genet A; 2009 Mar; 149A(3):336-42. PubMed ID: 19208380
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Waardenburg's recessive anophthalmia syndrome.
    Traboulsi EI; Nasr AM; Fahd SD; Jabbour NM; Der Kaloustian VM
    Ophthalmic Paediatr Genet; 1984 Apr; 4(1):13-8. PubMed ID: 6549566
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.
    Garavelli L; Pedori S; Dal Zotto R; Franchi F; Marinelli M; Croci GF; Bellato S; Ammenti A; Virdis R; Banchini G; Superti-Furga A
    Genet Couns; 2006; 17(4):449-55. PubMed ID: 17375532
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ophthalmo-acromelic syndrome in an infant.
    Ürel-Demir G; Taşkıran EZ; Akgün-Doğan Ö; Şimşek-Kiper PÖ; Utine GE
    Eur J Med Genet; 2019 Jul; 62(7):103664. PubMed ID: 31067494
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg.
    Kara F; Yesildaglar N; Tuncer RA; Semerci N; Onat N; Yilmazer YC; Sipahi T; Erkaya S
    Prenat Diagn; 2002 May; 22(5):395-7. PubMed ID: 12001194
    [TBL] [Abstract][Full Text] [Related]  

  • 10. "Ring leg deformity" in Bartsocas-Pappas syndrome.
    Kalender AM; Dogan A; Sebik A; Gokalp MA
    Eur J Med Genet; 2009; 52(4):269-70. PubMed ID: 19233322
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
    Marcadier JL; Mears AJ; Woods EA; Fisher J; Airheart C; Qin W; Beaulieu CL; Dyment DA; Innes AM; Curry CJ;
    Am J Med Genet A; 2016 Jan; 170A(1):11-8. PubMed ID: 26373900
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Parental consanguinity and the Majewski syndrome.
    Black IL; Fitzsimmons J; Fitzsimmons E; Thomas AJ
    J Med Genet; 1982 Apr; 19(2):141-3. PubMed ID: 7077625
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The Meckel syndrome in Finland: epidemiologic and genetic aspects.
    Salonen R; Norio R
    Am J Med Genet; 1984 Aug; 18(4):691-8. PubMed ID: 6486168
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports.
    Akşit S; Aydinlioglu H; Dizdarer G; Caglayan S; Bektaşlar D; Cin A
    Clin Genet; 1997 Oct; 52(4):226-30. PubMed ID: 9383028
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.
    Sayli BS; Akarsu AN; Altan S
    Am J Med Genet; 1995 Jul; 58(1):18-20. PubMed ID: 7573150
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
    Clayton-Smith J; Donnai D
    J Med Genet; 1989 May; 26(5):339-42. PubMed ID: 2732996
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Melnick-Needles syndrome: indication for an autosomal recessive form.
    ter Haar B; Hamel B; Hendriks J; de Jager J
    Am J Med Genet; 1982 Dec; 13(4):469-77. PubMed ID: 7158646
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Bilateral anophthalmus--a rare autosomal recessive disease picture].
    Konopizky BE; Endres M
    Fortschr Ophthalmol; 1984; 81(4):383-4. PubMed ID: 6479810
    [No Abstract]   [Full Text] [Related]  

  • 19. Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents.
    Aughton DJ
    Am J Med Genet; 1990 Oct; 37(2):178-81. PubMed ID: 2248283
    [No Abstract]   [Full Text] [Related]  

  • 20. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
    Rainger J; van Beusekom E; Ramsay JK; McKie L; Al-Gazali L; Pallotta R; Saponari A; Branney P; Fisher M; Morrison H; Bicknell L; Gautier P; Perry P; Sokhi K; Sexton D; Bardakjian TM; Schneider AS; Elcioglu N; Ozkinay F; Koenig R; Mégarbané A; Semerci CN; Khan A; Zafar S; Hennekam R; Sousa SB; Ramos L; Garavelli L; Furga AS; Wischmeijer A; Jackson IJ; Gillessen-Kaesbach G; Brunner HG; Wieczorek D; van Bokhoven H; Fitzpatrick DR
    PLoS Genet; 2011 Jul; 7(7):e1002114. PubMed ID: 21750680
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.