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 *

323 related articles for article (PubMed ID: 23739620)

  • 1. Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
    Wikiera B; Jakubiak A; Zimowski J; Noczyńska A; Smigiel R
    Pediatr Endocrinol Diabetes Metab; 2012; 18(4):153-7. PubMed ID: 23739620
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
    Heide S; Afenjar A; Edery P; Sanlaville D; Keren B; Rouen A; Lavillaureix A; Hyon C; Doummar D; Siffroi JP; Chantot-Bastaraud S
    Eur J Med Genet; 2015; 58(6-7):341-5. PubMed ID: 25917374
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The diagnostic difficulties of complex glycerol kinase deficiency.
    Ramanjam V; Delport S; Wilmshurst JM
    J Child Neurol; 2010 Oct; 25(10):1269-71. PubMed ID: 20110216
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Congenital adrenal hypoplasia as the first manifestation of a contiguous deletion of genes in Xp21].
    García García E; Martínez Ortega AJ; Fernández García R; Madruga Garrido M
    Med Clin (Barc); 2013 Jun; 140(12):564-5. PubMed ID: 23177307
    [No Abstract]   [Full Text] [Related]  

  • 5. A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report.
    Rathnasiri A; Senarathne U; Arunath V; Hoole T; Kumarasiri I; Muthukumarana O; Jasinge E; Mettananda S
    BMC Endocr Disord; 2021 Oct; 21(1):214. PubMed ID: 34689766
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A neonate with contiguous deletion syndrome in XP21.
    Sevim U; Fatma D; Ihsan E; Gulay C; Nevin B
    J Pediatr Endocrinol Metab; 2011; 24(11-12):1095-8. PubMed ID: 22308874
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.
    Pizza A; Picillo E; Onore ME; Scutifero M; Passamano L; Nigro V; Politano L
    Acta Myol; 2023; 42(1):24-30. PubMed ID: 37091526
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy].
    Pantoja-Martínez J; Martínez-Castellano F; Tarazona-Casany I; Buesa-Ibáñez E; Ardid-Encinar M; Esparza-Sánchez MA; Bonet-Arzo J
    Rev Neurol; 2007 May 16-31; 44(10):606-9. PubMed ID: 17523119
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Complex glycerol kinase deficiency in three children].
    Li XZ; Liu L; Mei HF
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Oct; 9(5):441-4. PubMed ID: 17937854
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Anesthesia for a child suffering from a deletion in the Xp21 loci resulting in Duchenne disease, glycerol kinase deficiency, and congenital adrenal hypoplasia.
    Van Obbergh LJ; Corteel J; Papadopoulos J; Aunac S
    Paediatr Anaesth; 2011 Oct; 21(10):1085-7. PubMed ID: 21981102
    [No Abstract]   [Full Text] [Related]  

  • 11. Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.
    Korkut S; Baştuğ O; Raygada M; Hatipoğlu N; Kurtoğlu S; Kendirci M; Lyssikatos C; Stratakis CA
    J Clin Res Pediatr Endocrinol; 2016 Dec; 8(4):468-471. PubMed ID: 27087023
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
    Cole DE; Clarke LA; Riddell DC; Samson KA; Seltzer WK; Salisbury S
    Clin Chem; 1994 Nov; 40(11 Pt 1):2099-103. PubMed ID: 7955386
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Complex glycerol kinase deficiency - long-term follow-up of two patients.
    Wikiera B; Jakubiak A; Łaczmanska I; Noczyńska A; Śmigiel R
    Pediatr Endocrinol Diabetes Metab; 2021; 27(3):227-231. PubMed ID: 34743506
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Isolated and contiguous glycerol kinase gene disorders: a review.
    Sjarif DR; Ploos van Amstel JK; Duran M; Beemer FA; Poll-The BT
    J Inherit Metab Dis; 2000 Sep; 23(6):529-47. PubMed ID: 11032329
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita.
    Sehgal A; Stack J
    Indian J Pediatr; 2005 Jan; 72(1):67-9. PubMed ID: 15684452
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency.
    Montoya-Williams D; Mowitz M
    Pediatrics; 2017 Jul; 140(1):. PubMed ID: 28759390
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report.
    Sadeghmousavi S; Shahkarami S; Rayzan E; Ahmed S; Gharalari FH; Rohlfs M; Klein C; Rezaei N
    Endocr Metab Immune Disord Drug Targets; 2022; 22(8):881-887. PubMed ID: 35105298
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
    Barbaro M; Bens S; Haake A; Peter M; Brämswig J; Holterhus PM; Lopez-Siguero JP; Menken U; Mix M; Sippell WG; Wedell A; Riepe FG
    Horm Res Paediatr; 2012; 77(2):100-7. PubMed ID: 22456342
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning.
    Rossell B; Godart J; Petyt C; Veyckemans F
    A A Pract; 2020 Aug; 14(10):e01294. PubMed ID: 32845106
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
    Bartley JA; Patil S; Davenport S; Goldstein D; Pickens J
    J Pediatr; 1986 Feb; 108(2):189-92. PubMed ID: 3003318
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.