BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

284 related articles for article (PubMed ID: 12673642)

  • 1. A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.
    Karaman B; Wollnik B; Ermiş H; Yüksel-Apak M; Başaran S
    Prenat Diagn; 2003 Apr; 23(4):336-9. PubMed ID: 12673642
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.
    Rao E; Weiss B; Fukami M; Rump A; Niesler B; Mertz A; Muroya K; Binder G; Kirsch S; Winkelmann M; Nordsiek G; Heinrich U; Breuning MH; Ranke MB; Rosenthal A; Ogata T; Rappold GA
    Nat Genet; 1997 May; 16(1):54-63. PubMed ID: 9140395
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26).
    Reinehr T; Jauch A; Zoll B; Engel U; Bartels I; Andler W
    Am J Med Genet; 2001 Jul; 102(1):81-5. PubMed ID: 11471178
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The role of the SHOX gene in the pathophysiology of Turner syndrome.
    Oliveira CS; Alves C
    Endocrinol Nutr; 2011 Oct; 58(8):433-42. PubMed ID: 21925981
    [TBL] [Abstract][Full Text] [Related]  

  • 5. FISH analysis for apparently simple terminal deletions of the X chromosome: identification of hidden structural abnormalities.
    Ogata T; Matsuo N; Fukushima Y; Saito M; Nose O; Miharu N; Uehara S; Ishizuka B
    Am J Med Genet; 2001 Dec; 104(4):307-11. PubMed ID: 11754066
    [TBL] [Abstract][Full Text] [Related]  

  • 6. SHOX haploinsufficiency and its modifying factors.
    Ogata T
    J Pediatr Endocrinol Metab; 2002 Dec; 15 Suppl 5():1289-94. PubMed ID: 12510982
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
    Jorge AA; Souza SC; Nishi MY; Billerbeck AE; Libório DC; Kim CA; Arnhold IJ; Mendonca BB
    Clin Endocrinol (Oxf); 2007 Jan; 66(1):130-5. PubMed ID: 17201812
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.
    Shanske AL; Puri M; Marshall B; Saenger P
    Horm Res; 2007; 67(2):61-6. PubMed ID: 17028440
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome.
    Mutesa L; Vanbellinghen JF; Hellin AC; Segers K; Jamar M; Pierquin G; Bours V
    Genet Couns; 2009; 20(1):9-17. PubMed ID: 19400538
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
    Evers C; Heidemann PH; Dunstheimer D; Schulze E; Haag C; Janssen JW; Fischer C; Jauch A; Moog U
    Clin Genet; 2011 May; 79(5):489-94. PubMed ID: 20681991
    [TBL] [Abstract][Full Text] [Related]  

  • 11. An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female.
    Shago M; Sgro M; Barozzino T; Antinucci D; Chakraborty P; Chitayat D; Teshima I
    Am J Med Genet; 2002 Dec; 113(3):279-85. PubMed ID: 12439897
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A short history of the initial discovery of the SHOX gene.
    Bernasconi S; Garavelli L
    J Endocrinol Invest; 2010 Jun; 33(6 Suppl):3-6. PubMed ID: 21057177
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
    Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson A; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre AG; Westphal O; Nilsson NO; Elfving M; Ellis I; Anderlid BM; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski JP
    Hum Genet; 2001 Nov; 109(5):551-8. PubMed ID: 11735031
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.
    Panasiuk B; Usinskiené R; Kostyk E; Rybałko A; Stasiewicz-Jarocka B; Krzykwa B; Pieńkowska-Grela B; Kucinskas V; Michalova K; Midro AT
    Ann Genet; 2004; 47(1):11-28. PubMed ID: 15050871
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.
    Jorge AA; Funari MF; Nishi MY; Mendonca BB
    Pediatr Endocrinol Rev; 2010 Dec; 8(2):79-85. PubMed ID: 21150837
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.
    Ogata T; Kosho T; Wakui K; Fukushima Y; Yoshimoto M; Miharu N
    J Clin Endocrinol Metab; 2000 Aug; 85(8):2927-30. PubMed ID: 10946905
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
    Rappold GA; Fukami M; Niesler B; Schiller S; Zumkeller W; Bettendorf M; Heinrich U; Vlachopapadoupoulou E; Reinehr T; Onigata K; Ogata T
    J Clin Endocrinol Metab; 2002 Mar; 87(3):1402-6. PubMed ID: 11889216
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.
    Schneider KU; Marchini A; Sabherwal N; Röth R; Niesler B; Marttila T; Blaschke RJ; Lawson M; Dumic M; Rappold G
    Hum Mutat; 2005 Jul; 26(1):44-52. PubMed ID: 15931687
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
    Belin V; Cusin V; Viot G; Girlich D; Toutain A; Moncla A; Vekemans M; Le Merrer M; Munnich A; Cormier-Daire V
    Nat Genet; 1998 May; 19(1):67-9. PubMed ID: 9590292
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Short stature in a mother and daughter with terminal deletion of Xp22.3.
    Schwinger E; Kirschstein M; Greiwe M; Konermann T; Orth U; Gal A
    Am J Med Genet; 1996 May; 63(1):239-42. PubMed ID: 8723116
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.