BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 20396904)

  • 1. A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
    Ashkenazi-Hoffnung L; Lebenthal Y; Wyatt AW; Ragge NK; Dateki S; Fukami M; Ogata T; Phillip M; Gat-Yablonski G
    Hum Genet; 2010 Jun; 127(6):721-9. PubMed ID: 20396904
    [TBL] [Abstract][Full Text] [Related]  

  • 2. OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.
    Dateki S; Fukami M; Sato N; Muroya K; Adachi M; Ogata T
    J Clin Endocrinol Metab; 2008 Oct; 93(10):3697-702. PubMed ID: 18628516
    [TBL] [Abstract][Full Text] [Related]  

  • 3. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.
    Tajima T; Ohtake A; Hoshino M; Amemiya S; Sasaki N; Ishizu K; Fujieda K
    J Clin Endocrinol Metab; 2009 Jan; 94(1):314-9. PubMed ID: 18854396
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.
    Gorbenko Del Blanco D; Romero CJ; Diaczok D; de Graaff LC; Radovick S; Hokken-Koelega AC
    Eur J Endocrinol; 2012 Sep; 167(3):441-52. PubMed ID: 22715480
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
    Diaczok D; Romero C; Zunich J; Marshall I; Radovick S
    J Clin Endocrinol Metab; 2008 Nov; 93(11):4351-9. PubMed ID: 18728160
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.
    Dateki S; Kosaka K; Hasegawa K; Tanaka H; Azuma N; Yokoya S; Muroya K; Adachi M; Tajima T; Motomura K; Kinoshita E; Moriuchi H; Sato N; Fukami M; Ogata T
    J Clin Endocrinol Metab; 2010 Feb; 95(2):756-64. PubMed ID: 19965921
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report.
    Lamine F; Kanoun F; Chihaoui M; Saveanu A; Menif E; Barlier A; Enjalbert A; Brue T; Slimane H
    Pituitary; 2012 Dec; 15 Suppl 1():S81-6. PubMed ID: 22797803
    [TBL] [Abstract][Full Text] [Related]  

  • 8. RAX and anophthalmia in humans: evidence of brain anomalies.
    Abouzeid H; Youssef MA; Bayoumi N; ElShakankiri N; Marzouk I; Hauser P; Schorderet DF
    Mol Vis; 2012; 18():1449-56. PubMed ID: 22736936
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
    Gonzalez-Rodriguez J; Pelcastre EL; Tovilla-Canales JL; Garcia-Ortiz JE; Amato-Almanza M; Villanueva-Mendoza C; Espinosa-Mattar Z; Zenteno JC
    Br J Ophthalmol; 2010 Aug; 94(8):1100-4. PubMed ID: 20494911
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement.
    Rohayem J; Drechsel H; Tittel B; Hahn G; Pfaeffle R; Huebner A
    Horm Res Paediatr; 2016; 86(2):106-116. PubMed ID: 27487097
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.
    Takagi M; Ishii T; Inokuchi M; Amano N; Narumi S; Asakura Y; Muroya K; Hasegawa Y; Adachi M; Hasegawa T
    PLoS One; 2012; 7(9):e46008. PubMed ID: 23029363
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Heterozygous mutations of OTX2 cause severe ocular malformations.
    Ragge NK; Brown AG; Poloschek CM; Lorenz B; Henderson RA; Clarke MP; Russell-Eggitt I; Fielder A; Gerrelli D; Martinez-Barbera JP; Ruddle P; Hurst J; Collin JR; Salt A; Cooper ST; Thompson PJ; Sisodiya SM; Williamson KA; Fitzpatrick DR; van Heyningen V; Hanson IM
    Am J Hum Genet; 2005 Jun; 76(6):1008-22. PubMed ID: 15846561
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery.
    Shimada A; Takagi M; Nagashima Y; Miyai K; Hasegawa Y
    Horm Res Paediatr; 2016; 86(1):62-9. PubMed ID: 27299576
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.
    Desmaison A; Vigouroux A; Rieubland C; Peres C; Calvas P; Chassaing N
    Mol Vis; 2010 Dec; 16():2847-9. PubMed ID: 21203406
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis.
    Yang Y; Guo QH; Wang BA; Dou JT; Lv ZH; Ba JM; Lu JM; Pan CY; Mu YM
    Clin Endocrinol (Oxf); 2013 Jul; 79(1):86-92. PubMed ID: 23199197
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.
    Griffero M; Benedetti AFF; PĂ©rez M; Carvalho L; Jorge A; Latronico AC; Mendonca B; Arnhold I; Mericq V
    J Pediatr Endocrinol Metab; 2022 Jun; 35(6):831-835. PubMed ID: 35320640
    [TBL] [Abstract][Full Text] [Related]  

  • 17. PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.
    de Graaff LC; Argente J; Veenma DC; Drent ML; Uitterlinden AG; Hokken-Koelega AC
    Horm Res Paediatr; 2010; 73(5):363-71. PubMed ID: 20389107
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
    Mauri L; Franzoni A; Scarcello M; Sala S; Garavelli L; Modugno A; Grammatico P; Patrosso MC; Piozzi E; Del Longo A; Gesu GP; Manfredini E; Primignani P; Damante G; Penco S
    Eur J Med Genet; 2015 Feb; 58(2):66-70. PubMed ID: 25542770
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency.
    Lonero A; Delvecchio M; Primignani P; Caputo R; Bargiacchi S; Penco S; Mauri L; Andreucci E; Faienza MF; Cavallo L
    J Pediatr Endocrinol Metab; 2016 May; 29(5):603-5. PubMed ID: 26974134
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
    Reynaud R; Albarel F; Saveanu A; Kaffel N; Castinetti F; Lecomte P; Brauner R; Simonin G; Gaudart J; Carmona E; Enjalbert A; Barlier A; Brue T
    Eur J Endocrinol; 2011 Apr; 164(4):457-65. PubMed ID: 21270112
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.