These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 9383023)

  • 1. Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.
    Savarirayan R; Nance J; Morris L; Haan E; Couper R
    Clin Genet; 1997 Oct; 52(4):199-205. PubMed ID: 9383023
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Severe malformations in males from families with osteopathia striata with cranial sclerosis.
    Bueno AL; Ramos FJ; Bueno O; Olivares JL; Bello ML; Bueno M
    Clin Genet; 1998 Nov; 54(5):400-5. PubMed ID: 9842992
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.
    König R; Dukiet C; Dörries A; Zabel B; Fuchs S
    Am J Med Genet; 1996 May; 63(1):68-73. PubMed ID: 8723089
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Family studies in congenital heart disease VI. The association of severe obstructive left heart lesions, vertebral and renal anomalies; a second family.
    Kaufman RL; McAlister WH; Ho CK; Hartmann AF
    Birth Defects Orig Artic Ser; 1974; 10(7):93-104. PubMed ID: 4421976
    [No Abstract]   [Full Text] [Related]  

  • 5. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.
    Green AJ; Sandford RN; Davison BC
    J Med Genet; 1996 Jul; 33(7):594-6. PubMed ID: 8818947
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?
    Thauvin-Robinet C; Laurent N; Rousseau T; Couvreur S; Cusin V; Callier P; Mugneret F; Durand C; Huet F; Sagot P; Faivre L
    Eur J Med Genet; 2007; 50(1):85-91. PubMed ID: 17056308
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report.
    Jeong C; Kim M; Yim J; Park IJ; Lee J; Lee J
    Medicine (Baltimore); 2021 Oct; 100(40):e27346. PubMed ID: 34622833
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.
    Viot G; Lacombe D; David A; Mathieu M; de Broca A; Faivre L; Gigarel N; Munnich A; Lyonnet S; Le Merrer M; Cormier-Daire V
    Am J Med Genet; 2002 Jan; 107(1):1-4. PubMed ID: 11807859
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases.
    Elliott AM; Roeder ER; Witt DR; Rimoin DL; Lachman RS
    Am J Med Genet; 2000 Dec; 95(5):496-506. PubMed ID: 11146473
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The Greig cephalopolysyndactyly syndrome in a Canadian family.
    Chudley AE; Houston CS
    Am J Med Genet; 1982 Nov; 13(3):269-76. PubMed ID: 6295159
    [No Abstract]   [Full Text] [Related]  

  • 11. Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype.
    Salian S; Nampoothiri S; Shukla A; Girisha KM
    Congenit Anom (Kyoto); 2019 Jan; 59(1):26-27. PubMed ID: 29704261
    [No Abstract]   [Full Text] [Related]  

  • 12. Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.
    Winter RM; Crawfurd Md'A ; Meire HB; Mitchell N
    Clin Genet; 1980 Dec; 18(6):462-74. PubMed ID: 7004677
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Acrodysostosis: an autosomal inherited form of peripheral dysostosis].
    Becker S; Mausolf A; Laszig R
    HNO; 1989 Apr; 37(4):165-8. PubMed ID: 2722579
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Osteopathia striata with cranial sclerosis owing to WTX gene defect.
    Perdu B; de Freitas F; Frints SG; Schouten M; Schrander-Stumpel C; Barbosa M; Pinto-Basto J; Reis-Lima M; de Vernejoul MC; Becker K; Freckmann ML; Keymolen K; Haan E; Savarirayan R; Koenig R; Zabel B; Vanhoenacker FM; Van Hul W
    J Bone Miner Res; 2010 Jan; 25(1):82-90. PubMed ID: 20209645
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
    Boczek NJ; Kruisselbrink T; Cousin MA; Blackburn PR; Klee EW; Gavrilova RH; Lanpher BC
    Am J Med Genet A; 2017 May; 173(5):1328-1333. PubMed ID: 28322501
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [An anatomical study of familial cryptophthalmos].
    Emberger JM; Taib J; Caderas de Kerleau J; Pincemin D
    J Genet Hum; 1976 Nov; 24 Suppl():23-9. PubMed ID: 192847
    [No Abstract]   [Full Text] [Related]  

  • 17. Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.
    Whittock NV; Turnpenny PD; Tuerlings J; Ellard S
    Prenat Diagn; 2003 Jul; 23(7):575-9. PubMed ID: 12868087
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance.
    Chrzanowska K; Fryns JP
    Clin Genet; 1993 May; 43(5):270. PubMed ID: 8375109
    [No Abstract]   [Full Text] [Related]  

  • 19. Acrodysostosis in two generations: an autosomal dominant syndrome.
    Hernández RM; Miranda A; Kofman-Alfaro S
    Clin Genet; 1991 May; 39(5):376-82. PubMed ID: 1860254
    [TBL] [Abstract][Full Text] [Related]  

  • 20. CYCLOPIA AND OTHER DEFECTS IN A FETUS WITH UNIQUE CHROMOSOMAL REARRANGEMENT.
    Golovataya EI; Pribushenya OV; Trebka EG; Novikova IV; Lurie IW
    Genet Couns; 2015; 26(3):359-64. PubMed ID: 26625670
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.