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Journal Abstract Search

587 related items for PubMed ID: 19243411

  • 1. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.
    Yamamoto K, Yoshihashi H, Furuya N, Adachi M, Ito S, Tanaka Y, Masuno M, Chiyo H, Kurosawa K.
    Congenit Anom (Kyoto); 2009 Mar; 49(1):8-14. PubMed ID: 19243411
    [Abstract] [Full Text] [Related]

  • 2. Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.
    Musani V, Cretnik M, Situm M, Basta-Juzbasic A, Levanat S.
    Dermatology; 2009 Mar; 219(2):111-8. PubMed ID: 19439922
    [Abstract] [Full Text] [Related]

  • 3. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
    Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brøndum-Nielsen K, Tümer Z.
    Am J Med Genet A; 2005 Jan 30; 132A(3):324-8. PubMed ID: 15690381
    [Abstract] [Full Text] [Related]

  • 4. NBCCS secondary to an interstitial chromosome 9q deletion.
    Haniffa MA, Leech SN, Lynch SA, Simpson NB.
    Clin Exp Dermatol; 2004 Sep 30; 29(5):542-4. PubMed ID: 15347344
    [Abstract] [Full Text] [Related]

  • 5. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
    Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L.
    Am J Med Genet A; 2012 Feb 30; 158A(2):391-9. PubMed ID: 22190277
    [Abstract] [Full Text] [Related]

  • 6. Physical mapping of the 5 Mb D9S196-D9S180 interval harboring the basal cell nevus syndrome gene and localization of six genes in this region.
    Xie J, Quinn A, Zhang X, Bare J, Rothman A, Collins C, Cutone S, Rutter M, McCormick MK, Epstein E.
    Genes Chromosomes Cancer; 1997 Apr 30; 18(4):305-9. PubMed ID: 9087571
    [Abstract] [Full Text] [Related]

  • 7. Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
    Chen CP, Lin SP, Wang TH, Chen YJ, Chen M, Wang W.
    Prenat Diagn; 2006 Aug 30; 26(8):725-9. PubMed ID: 16927391
    [Abstract] [Full Text] [Related]

  • 8. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
    Midro AT, Panasiuk B, Tümer Z, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Tarasów E, Famulski W, Zadrozna-Tołwińska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N.
    Am J Med Genet A; 2004 Jan 15; 124A(2):179-91. PubMed ID: 14699618
    [Abstract] [Full Text] [Related]

  • 9. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.
    Pediatrics; 2008 Feb 15; 121(2):404-10. PubMed ID: 18245432
    [Abstract] [Full Text] [Related]

  • 10. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
    Schoumans J, Staaf J, Jönsson G, Rantala J, Zimmer KS, Borg A, Nordenskjöld M, Anderlid BM.
    Eur J Med Genet; 2005 Feb 15; 48(3):290-300. PubMed ID: 16179224
    [Abstract] [Full Text] [Related]

  • 11. A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
    Nowakowska B, Kutkowska-Kaźmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW.
    Am J Med Genet A; 2007 Aug 15; 143A(16):1885-9. PubMed ID: 17632781
    [Abstract] [Full Text] [Related]

  • 12. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
    Shimkets R, Gailani MR, Siu VM, Yang-Feng T, Pressman CL, Levanat S, Goldstein A, Dean M, Bale AE.
    Am J Hum Genet; 1996 Aug 15; 59(2):417-22. PubMed ID: 8755929
    [Abstract] [Full Text] [Related]

  • 13. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.
    Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, Carter NP, Cormier-Daire V, Colleaux L.
    Eur J Hum Genet; 2006 Jun 15; 14(6):759-67. PubMed ID: 16570072
    [Abstract] [Full Text] [Related]

  • 14. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.
    Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R, Pagon B, Reddy KS.
    Am J Med Genet; 1999 Nov 05; 87(1):17-22. PubMed ID: 10528241
    [Abstract] [Full Text] [Related]

  • 15. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
    Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG.
    Eur J Hum Genet; 2005 May 05; 13(5):528-40. PubMed ID: 15852040
    [Abstract] [Full Text] [Related]

  • 16. Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.
    White DM, Pillers DA, Reiss JA, Brown MG, Magenis RE.
    Am J Med Genet; 1995 Jul 17; 57(4):588-97. PubMed ID: 7573135
    [Abstract] [Full Text] [Related]

  • 17. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
    Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M.
    Eur J Med Genet; 2009 Jul 17; 52(5):358-62. PubMed ID: 19576304
    [Abstract] [Full Text] [Related]

  • 18. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
    Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y.
    Brain Dev; 2005 Aug 17; 27(5):378-82. PubMed ID: 16023556
    [Abstract] [Full Text] [Related]

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