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Journal Abstract Search

303 related items for PubMed ID: 10190481

  • 1. Acromelic frontonasal dysostosis.
    Slaney SF, Goodman FR, Eilers-Walsman BL, Hall BD, Williams DK, Young ID, Hayward RD, Jones BM, Christianson AL, Winter RM.
    Am J Med Genet; 1999 Mar 12; 83(2):109-16. PubMed ID: 10190481
    [Abstract] [Full Text] [Related]

  • 2. Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.
    Hing AV, Syed N, Cunningham ML.
    Am J Med Genet A; 2004 Aug 01; 128A(4):374-82. PubMed ID: 15264282
    [Abstract] [Full Text] [Related]

  • 3. Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling.
    Warkany J, Bofinger MK, Benton C.
    Teratology; 1973 Dec 01; 8(3):273-85. PubMed ID: 4767905
    [No Abstract] [Full Text] [Related]

  • 4. N--variable expressivity in craniocarpotarsal dysplasia.
    Wilson CD, Pearce WG.
    Birth Defects Orig Artic Ser; 1974 Dec 01; 10(5):243-8. PubMed ID: 4220007
    [No Abstract] [Full Text] [Related]

  • 5. Autosomal recessive form of whistling face syndrome in sibs.
    Dallapiccola B, Giannotti A, Lembo A, Saguì L.
    Am J Med Genet; 1989 Aug 01; 33(4):542-4. PubMed ID: 2596515
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  • 6. The VSR syndrome. Studies of malformation syndromes of man XXXII.
    Herrmann J, Opitz JM.
    Birth Defects Orig Artic Ser; 1974 Aug 01; 10(9):227-39. PubMed ID: 4425539
    [No Abstract] [Full Text] [Related]

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  • 9. Autosomal recessive omodysplasia: report of three additional cases.
    Masel JP, Kozlowski K, Kiss P.
    Pediatr Radiol; 1998 Aug 01; 28(8):608-11. PubMed ID: 9716634
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  • 10. Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
    Smith JD, Hing AV, Clarke CM, Johnson NM, Perez FA, Park SS, Horst JA, Mecham B, Maves L, Nickerson DA, University of Washington Center for Mendelian Genomics, Cunningham ML.
    Am J Hum Genet; 2014 Aug 07; 95(2):235-40. PubMed ID: 25105228
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  • 12. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.
    Richieri-Costa A, Colletto GM, Gollop TR, Masiero D.
    Am J Med Genet; 1985 Apr 07; 20(4):631-8. PubMed ID: 2986457
    [Abstract] [Full Text] [Related]

  • 13. Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
    Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L.
    Am J Med Genet A; 2017 Dec 07; 173(12):3136-3142. PubMed ID: 29136349
    [Abstract] [Full Text] [Related]

  • 14. Frontofacionasal dysplasia: evidence for autosomal recessive inheritance.
    Gollop TR, Kiota MM, Martins RM, Lucchesi EA, Alvarenga Filho E.
    Am J Med Genet; 1984 Oct 07; 19(2):301-5. PubMed ID: 6439039
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  • 16. Prenatal Diagnosis of Acromelic Frontonasal Dysostosis.
    Martínez-Payo C, García-Santiago FA, Heath KE, Gavin E, Mansilla-Aparicio E.
    Mol Syndromol; 2021 Mar 07; 12(1):41-45. PubMed ID: 33776626
    [Abstract] [Full Text] [Related]

  • 17. Ocular manifestations of frontonasal dysplasia.
    Roarty JD, Pron GE, Siegel-Bartelt J, Posnick JC, Buncic JR.
    Plast Reconstr Surg; 1994 Jan 07; 93(1):25-30. PubMed ID: 8278482
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  • 18. Frontonasal dysplasia: analysis of 21 cases and literature review.
    Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen MM.
    Int J Oral Maxillofac Surg; 1996 Apr 07; 25(2):91-7. PubMed ID: 8727576
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  • 19. [Clinical and radiological aspects of maxillo-nasal dysostosis: "naso-maxillo-vertebral syndrome". A study of 34 new cases (author's transl)].
    Delaire J, Tessier P, Tulasne JF, Resche F.
    Rev Stomatol Chir Maxillofac; 1979 Apr 07; 80(2):68-82. PubMed ID: 313602
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  • 20. Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome.
    Goddeeris P, Fryns JP, van den Berghe H.
    J Genet Hum; 1980 Mar 07; 28(1):57-60. PubMed ID: 7400786
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