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 *

88 related articles for article (PubMed ID: 9254856)

  • 1. FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.
    Rao E; Weiss B; Fukami M; Mertz A; Meder J; Ogata T; Heinrich U; Garcia-Heras J; Schiebel K; Rappold GA
    Hum Genet; 1997 Aug; 100(2):236-9. PubMed ID: 9254856
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.
    Palka G; Stuppia L; Guanciali Franchi P; Chiarelli F; Fischetto R; Borrelli P; Giannotti A; Fioretti G; Rinaldi MM; Mingarelli R; Rappold GA; Calabrese G
    Clin Genet; 2000 Jun; 57(6):449-53. PubMed ID: 10905666
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.
    Castro A; Rodríguez F; Flórez M; López P; Curotto B; Martínez D; Maturana A; Lardone MC; Palma C; Mericq V; Ebensperger M; Cassorla F
    Hum Reprod; 2017 Feb; 32(2):465-475. PubMed ID: 28057878
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome.
    Adamson KA; Cross I; Batch JA; Rappold GA; Glass IA; Ball SG
    Clin Endocrinol (Oxf); 2002 May; 56(5):671-5. PubMed ID: 12035792
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular and cytogenetic analysis of familial Xp deletions.
    Wandstrat AE; Conroy JM; Zurcher VL; Pasztor LM; Clark BA; Zackowski JL; Schwartz S
    Am J Med Genet; 2000 Sep; 94(2):163-9. PubMed ID: 10982973
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The Turner syndrome-associated neurocognitive phenotype maps to distal Xp.
    Ross JL; Roeltgen D; Kushner H; Wei F; Zinn AR
    Am J Hum Genet; 2000 Sep; 67(3):672-81. PubMed ID: 10931762
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Trisomy of the short stature homeobox-containing gene (SHOX) due to duplication/deletion of the X chomosome: clinical implications on the stature.
    Del Rey G; Jasper H; Bengolea SV; Boywitt A; De Bellis R; Heinrich JJ
    Horm Res Paediatr; 2010; 74(4):297-304. PubMed ID: 20689243
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere.
    Gianfrancesco F; Esposito T; Montanini L; Ciccodicola A; Mumm S; Mazzarella R; Rao E; Giglio S; Rappold G; Forabosco A
    Hum Mol Genet; 1998 Mar; 7(3):407-14. PubMed ID: 9466997
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.
    McDonell N; Ramser J; Francis F; Vinet MC; Rider S; Sudbrak R; Riesselman L; Yaspo ML; Reinhardt R; Monaco AP; Ross F; Kahn A; Kearney L; Buckle V; Chelly J
    Genomics; 2000 Mar; 64(3):221-9. PubMed ID: 10756090
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Characterization of a YAC contig spanning the pseudoautosomal region.
    Ried K; Mertz A; Nagaraja R; Trusgnich M; Riley JH; Anand R; Lehrach H; Page D; Ellison JW; Rappold G
    Genomics; 1995 Oct; 29(3):787-92. PubMed ID: 8575778
    [TBL] [Abstract][Full Text] [Related]  

  • 13. FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY.
    Kirsch S; Weiss B; De Rosa M; Ogata T; Lombardi G; Rappold GA
    J Med Genet; 2000 Aug; 37(8):593-9. PubMed ID: 10922386
    [TBL] [Abstract][Full Text] [Related]  

  • 14. An integrated YAC-overlap and 'cosmid-pocket' map of the human chromosome 21.
    Nizetić D; Gellen L; Hamvas RM; Mott R; Grigoriev A; Vatcheva R; Zehetner G; Yaspo ML; Dutriaux A; Lopes C
    Hum Mol Genet; 1994 May; 3(5):759-70. PubMed ID: 8081363
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.
    Sloan-Béna F; Philippe C; LeHeup B; Wuilque F; Levy ER; Chéry M; Jonveaux P; Monaco AP
    J Med Genet; 1998 Feb; 35(2):146-50. PubMed ID: 9507395
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Physical and transcript map of a 2-Mb region in Xp22.1 containing candidate genes for X-linked mental retardation and short stature.
    Zhang S; Krahe R
    Genomics; 2002 Mar; 79(3):274-7. PubMed ID: 11863356
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.
    Henke A; Wapenaar M; van Ommen GJ; Maraschio P; Camerino G; Rappold G
    Am J Hum Genet; 1991 Oct; 49(4):811-9. PubMed ID: 1897527
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular characterization of a ring X chromosome in a male with short stature.
    Ellison JW; Tekin M; Sikes KS; Yankowitz J; Shapiro L; Rappold GA; Neely KE
    Hum Genet; 2002 Apr; 110(4):322-6. PubMed ID: 11941480
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.