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Journal Abstract Search

179 related items for PubMed ID: 1505578

  • 1. Robinow syndrome in two siblings from consanguineous parents.
    Schorderet DF, Dahoun S, Defrance I, Nusslé D, Morris MA.
    Eur J Pediatr; 1992 Aug; 151(8):586-9. PubMed ID: 1505578
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  • 2. Dwarfism, rhizomelic limb shortness, and abnormal face: new short stature syndrome sharing some manifestations with Robinow syndrome.
    Turnpenny PD, Thwaites RJ.
    Am J Med Genet; 1992 Mar 01; 42(5):724-7. PubMed ID: 1632447
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  • 4. Craniofacial phenotypes associated with Robinow syndrome.
    Conlon CJ, Abu-Ghname A, Raghuram AC, Davis MJ, Guillen DE, Sutton VR, Carvalho CMB, Maricevich RS.
    Am J Med Genet A; 2021 Dec 01; 185(12):3606-3612. PubMed ID: 33237614
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  • 5. An osteosclerotic form of Robinow syndrome.
    Bunn KJ, Lai A, Al-Ani A, Farella M, Craw S, Robertson SP.
    Am J Med Genet A; 2014 Oct 01; 164A(10):2638-42. PubMed ID: 25045061
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  • 10. Isochromosome-formation in chromosome 9.
    Miller K, Arslan-Kirchner M.
    Ann Genet; 1994 Oct 01; 37(2):78-81. PubMed ID: 7985983
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  • 11. [Cryptorchidism with didymo-epididymal dissociation and Robinow's syndrome: 2 case reports].
    Fabbro MA, D'Agostino S, Costa L, Musi L, Cappellari F.
    Pediatr Med Chir; 1997 Oct 01; 19(2):121-4. PubMed ID: 9312747
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  • 12. Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome.
    Urioste M, Visedo G, Sanchís A, Sentís C, Villa A, Ludeña P, Hortigüela JL, Martínez-Frías ML, Fernández-Piqueras J.
    Am J Med Genet; 1994 Jan 01; 49(1):77-82. PubMed ID: 8172255
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  • 13. A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency.
    Hurst JA, Baraitser M, Winter RM.
    Am J Med Genet; 1987 Dec 01; 28(4):965-70. PubMed ID: 3688035
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  • 14. First-trimester diagnosis of Robinow syndrome.
    Percin EF, Guvenal T, Cetin A, Percin S, Goze F, Arici S.
    Fetal Diagn Ther; 2001 Dec 01; 16(5):308-11. PubMed ID: 11509854
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  • 15. "Newer" facial clefting syndromes.
    Gorlin RJ, Cervenka J, Cohen MM.
    Birth Defects Orig Artic Ser; 1977 Dec 01; 13(3B):1-9. PubMed ID: 329913
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  • 16. Del (X)(p21.2) in a mother and two daughters with variable ovarian function.
    Zinn AR, Ouyang B, Ross JL, Varma S, Bourgeois M, Tonk V.
    Clin Genet; 1997 Oct 01; 52(4):235-9. PubMed ID: 9383030
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  • 17. A new syndrome. Short limbs, abnormal facial appearance, and congenital heart defect.
    Barrow M, Fitzsimmons JS.
    Am J Med Genet; 1984 Jul 01; 18(3):431-3. PubMed ID: 6476004
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  • 18. Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.
    Saal HM, Greenstein RM, Weinbaum PJ, Poole AE.
    Am J Med Genet; 1988 Jul 01; 30(3):709-18. PubMed ID: 3189394
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  • 19. [Tendency for chromosome breaks in Russel's syndrome].
    Ganner E, Schwingshackl A.
    Klin Wochenschr; 1970 May 15; 48(10):629-32. PubMed ID: 5517331
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  • 20. A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
    Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B.
    J Pediatr Endocrinol Metab; 2016 Sep 01; 29(9):1111-4. PubMed ID: 27544718
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