BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

209 related articles for article (PubMed ID: 30529377)

  • 1. Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.
    Depeyre A; Schlund M; Nicot R; Ferri J
    J Oral Maxillofac Surg; 2019 Apr; 77(4):762-768. PubMed ID: 30529377
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
    Benito-Sanz S; Thomas NS; Huber C; Gorbenko del Blanco D; Aza-Carmona M; Crolla JA; Maloney V; Rappold G; Argente J; Campos-Barros A; Cormier-Daire V; Heath KE
    Am J Hum Genet; 2005 Oct; 77(4):533-44. PubMed ID: 16175500
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous
    Vodopiutz J; Steurer LM; Haufler F; Laccone F; Garczarczyk-Asim D; Hilkenmeier M; Steinbauer P; Janecke AR
    Genes (Basel); 2023 Apr; 14(4):. PubMed ID: 37107635
    [TBL] [Abstract][Full Text] [Related]  

  • 4. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.
    Hirschfeldova K; Solc R; Baxova A; Zapletalova J; Kebrdlova V; Gaillyova R; Prasilova S; Soukalova J; Mihalova R; Lnenicka P; Florianova M; Stekrova J
    Gene; 2012 Jan; 491(2):123-7. PubMed ID: 22020182
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Detection of
    Gürsoy S; Hazan F; Aykut A; Nalbantoğlu Ö; Korkmaz HA; Demir K; Özkan B; Çoğulu Ö
    J Clin Res Pediatr Endocrinol; 2020 Nov; 12(4):358-365. PubMed ID: 32295321
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.
    Reish O; Huber C; Altarescu G; Chapman-Shimshoni D; Levy-Lahad E; Renbaum P; Mashevich M; Munnich A; Cormier-Daire V
    Am J Med Genet A; 2010 Sep; 152A(9):2230-5. PubMed ID: 20683993
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.
    Bunyan DJ; Baffico M; Capone L; Vannelli S; Iughetti L; Schmitt S; Taylor EJ; Herridge AA; Shears D; Forabosco A; Coviello DA
    Am J Med Genet A; 2016 Apr; 170A(4):949-57. PubMed ID: 26698168
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Metabolic syndrome coexists with adult Léri-Weill dyschondrosteosis: A case report.
    Wang D; Pan X; Wang X
    J Diabetes Investig; 2021 Mar; 12(3):446-449. PubMed ID: 32633455
    [TBL] [Abstract][Full Text] [Related]  

  • 9. DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.
    Ogushi K; Hattori A; Suzuki E; Shima H; Izawa M; Yagasaki H; Horikawa R; Uetake K; Umezawa A; Ishii T; Muroya K; Namba N; Tanaka T; Hirano Y; Yamamoto H; Soneda S; Matsubara K; Kagami M; Miyado M; Fukami M
    Cytogenet Genome Res; 2019; 158(2):56-62. PubMed ID: 31158835
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.
    Monzani A; Babu D; Mellone S; Genoni G; Fanelli A; Prodam F; Bellone S; Giordano M
    BMC Med Genomics; 2019 Jan; 12(1):5. PubMed ID: 30626445
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
    Benito-Sanz S; Barroso E; Heine-Suñer D; Hisado-Oliva A; Romanelli V; Rosell J; Aragones A; Caimari M; Argente J; Ross JL; Zinn AR; Gracia R; Lapunzina P; Campos-Barros A; Heath KE
    J Clin Endocrinol Metab; 2011 Feb; 96(2):E404-12. PubMed ID: 21147883
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypes Associated with SHOX Deficiency.
    Ross JL; Scott C; Marttila P; Kowal K; Nass A; Papenhausen P; Abboudi J; Osterman L; Kushner H; Carter P; Ezaki M; Elder F; Wei F; Chen H; Zinn AR
    J Clin Endocrinol Metab; 2001 Dec; 86(12):5674-80. PubMed ID: 11739418
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene.
    Choi WB; Seo SH; Yoo WH; Kim SY; Kwak MJ
    Ann Pediatr Endocrinol Metab; 2015 Sep; 20(3):162-5. PubMed ID: 26512353
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.
    Benito-Sanz S; Royo JL; Barroso E; Paumard-Hernández B; Barreda-Bonis AC; Liu P; Gracía R; Lupski JR; Campos-Barros Á; Gómez-Skarmeta JL; Heath KE
    J Med Genet; 2012 Jul; 49(7):442-50. PubMed ID: 22791839
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The SHOX region and its mutations.
    Capone L; Iughetti L; Sabatini S; Bacciaglia A; Forabosco A
    J Endocrinol Invest; 2010 Jun; 33(6 Suppl):11-4. PubMed ID: 21057179
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome.
    Binder G; Fritsch H; Schweizer R; Ranke MB
    Horm Res; 2001; 55(2):71-6. PubMed ID: 11509862
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
    Cormier-Daire V; Belin V; Cusin V; Viot G; Girlich D; Toutain A; Moncla A; Vekemans M; Le Merrer M; Munnich A
    Acta Paediatr Suppl; 1999 Dec; 88(433):55-9. PubMed ID: 10626546
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis.
    Ogushi K; Muroya K; Shima H; Jinno T; Miyado M; Fukami M
    Am J Med Genet A; 2019 Sep; 179(9):1778-1782. PubMed ID: 31228230
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.
    Ross JL; Kowal K; Quigley CA; Blum WF; Cutler GB; Crowe B; Hovanes K; Elder FF; Zinn AR
    J Pediatr; 2005 Oct; 147(4):499-507. PubMed ID: 16227037
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.