183 related articles for article (PubMed ID: 9916840)
1. Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature.
Shanske A; Ellison J; Vuguin P; Dowling P; Wasserman E; Heinrich J; Saenger P
Am J Med Genet; 1999 Jan; 82(1):34-9. PubMed ID: 9916840
[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. Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.
Ogata T; Wakui K; Kosho T; Muroya K; Yamanouchi Y; Takano T; Fukushima Y; Rappold G; Suzuki Y
Am J Med Genet; 2000 Jun; 92(4):256-9. PubMed ID: 10842291
[TBL] [Abstract][Full Text] [Related]
4. Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome.
Blum WF; Cao D; Hesse V; Fricke-Otto S; Ross JL; Jones C; Quigley CA; Binder G
Horm Res; 2009; 71(3):167-72. PubMed ID: 19188742
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.
Borie C; Léger J; Dupuy O; Hassan M; Ledu N; Lebbar A; Czernichow P; Eydoux P
Am J Med Genet A; 2004 Mar; 125A(2):186-90. PubMed ID: 14981722
[TBL] [Abstract][Full Text] [Related]
7. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.
Binder G; Schwarze CP; Ranke MB
J Clin Endocrinol Metab; 2000 Jan; 85(1):245-9. PubMed ID: 10634394
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency.
Maggio MC; Corsello G
Ital J Pediatr; 2019 Aug; 45(1):100. PubMed ID: 31412912
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. PHOG, a candidate gene for involvement in the short stature of Turner syndrome.
Ellison JW; Wardak Z; Young MF; Gehron Robey P; Laig-Webster M; Chiong W
Hum Mol Genet; 1997 Aug; 6(8):1341-7. PubMed ID: 9259282
[TBL] [Abstract][Full Text] [Related]
13. Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX.
Ogata T; Onigata K; Hotsubo T; Matsuo N; Rappold G
Endocr J; 2001 Jun; 48(3):317-22. PubMed ID: 11523902
[TBL] [Abstract][Full Text] [Related]
14. Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome.
Tzancheva M; Kaneva R; Kumanov P; Williams G; Tyler-Smith C
J Med Genet; 1999 Jul; 36(7):549-53. PubMed ID: 10424817
[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. Long-term growth hormone therapy in an adolescent boy with 45,X/46,XidicY(p11).
Guevarra FM; Nimkarn S; New MI; Lin-Su K
J Pediatr; 2009 Nov; 155(5):752-5.e1-3. PubMed ID: 19840619
[TBL] [Abstract][Full Text] [Related]
17. Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.
Iughetti L; Madeo S; Predieri B
J Endocrinol Invest; 2010 Jun; 33(6 Suppl):34-8. PubMed ID: 21057184
[TBL] [Abstract][Full Text] [Related]
18. [From gene to disease; from SHOX to Lèri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature].
Kant SG; Drop SL
Ned Tijdschr Geneeskd; 2001 Jul; 145(30):1456-9. PubMed ID: 11503314
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]