BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

253 related articles for article (PubMed ID: 10842298)

  • 1. Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
    Horn D; Krebsová A; Kunze J; Reis A
    Am J Med Genet; 2000 Jun; 92(4):285-92. PubMed ID: 10842298
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.
    Tahvanainen E; Norio R; Karila E; Ranta S; Weissenbach J; Sistonen P; de la Chapelle A
    Nat Genet; 1994 Jun; 7(2):201-4. PubMed ID: 7920642
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.
    Børglum AD; Balslev T; Haagerup A; Birkebaek N; Binderup H; Kruse TA; Hertz JM
    Eur J Hum Genet; 2001 Oct; 9(10):753-7. PubMed ID: 11781686
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Narrowing the map of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature at Xq12-q21.31.
    Shrimpton AE; Braddock BR; Hoo JJ
    Am J Med Genet; 2000 May; 92(2):155-6. PubMed ID: 10797443
    [No Abstract]   [Full Text] [Related]  

  • 5. Clinical and genetic heterogeneity of Seckel syndrome.
    Faivre L; Le Merrer M; Lyonnet S; Plauchu H; Dagoneau N; Campos-Xavier AB; Attia-Sobol J; Verloes A; Munnich A; Cormier-Daire V
    Am J Med Genet; 2002 Nov; 112(4):379-83. PubMed ID: 12376940
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.
    Cilliers DD; Parveen R; Clayton P; Cairns SA; Clarke S; Shalet SM; Black GC; Newman WG; Clayton-Smith J
    Eur J Med Genet; 2007; 50(3):216-23. PubMed ID: 17369115
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31.
    Shrimpton AE; Daly KM; Hoo JJ
    Am J Med Genet; 1999 May; 84(3):293-9. PubMed ID: 10331611
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22.
    Summanen P; Kivitie-Kallio S; Norio R; Raitta C; Kivelä T
    Invest Ophthalmol Vis Sci; 2002 May; 43(5):1686-93. PubMed ID: 11980891
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
    Lagier-Tourenne C; Tranebaerg L; Chaigne D; Gribaa M; Dollfus H; Silvestri G; Bétard C; Warter JM; Koenig M
    Eur J Hum Genet; 2003 Oct; 11(10):770-8. PubMed ID: 14512967
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly.
    Kivitie-Kallio S; Autti T; Salonen O; Norio R
    Neuropediatrics; 1998 Dec; 29(6):298-301. PubMed ID: 10029348
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).
    Rump P; Dijkhuizen T; Sikkema-Raddatz B; Lemmink HH; Vos YJ; Verheij JB; van Ravenswaaij CM
    Clin Genet; 2008 Nov; 74(5):455-62. PubMed ID: 18651844
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Refined mapping of the Cohen syndrome gene by linkage disequilibrium.
    Kolehmainen J; Norio R; Kivitie-Kallio S; Tahvanainen E; de la Chapelle A; Lehesjoki AE
    Eur J Hum Genet; 1997; 5(4):206-13. PubMed ID: 9359041
    [TBL] [Abstract][Full Text] [Related]  

  • 13. X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
    Van Esch H; Zanni G; Holvoet M; Borghgraef M; Chelly J; Fryns JP; Devriendt K
    Eur J Med Genet; 2005; 48(2):145-52. PubMed ID: 16053905
    [TBL] [Abstract][Full Text] [Related]  

  • 14. X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family.
    Raynaud M; Ronce N; Ayrault AD; Francannet C; Malpuech G; Moraine C
    Am J Med Genet; 1998 Mar; 76(3):255-61. PubMed ID: 9508246
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
    Hampshire DJ; Ayub M; Springell K; Roberts E; Jafri H; Rashid Y; Bond J; Riley JH; Woods CG
    Eur J Hum Genet; 2006 May; 14(5):543-8. PubMed ID: 16493448
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome.
    Stevenson RE; May M; Arena JF; Millar EA; Scott CI; Schroer RJ; Simensen RJ; Lubs HA; Schwartz CE
    Am J Med Genet; 1994 Sep; 52(3):339-45. PubMed ID: 7810566
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients.
    Mendez HM; Paskulin GA; Vallandro C
    Am J Med Genet; 1985 Oct; 22(2):223-8. PubMed ID: 4050854
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.
    Blair IP; Gibson RR; Bennett CL; Chance PF
    Am J Med Genet; 2002 Jan; 107(3):190-6. PubMed ID: 11807898
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
    Seifert W; Holder-Espinasse M; Kühnisch J; Kahrizi K; Tzschach A; Garshasbi M; Najmabadi H; Walter Kuss A; Kress W; Laureys G; Loeys B; Brilstra E; Mancini GM; Dollfus H; Dahan K; Apse K; Hennies HC; Horn D
    Hum Mutat; 2009 Feb; 30(2):E404-20. PubMed ID: 19006247
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.
    Forrester S; Kovach MJ; Reynolds NM; Urban R; Kimonis V
    Am J Med Genet; 2001 Jan; 98(1):92-100. PubMed ID: 11426460
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.