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Journal Abstract Search

229 related items for PubMed ID: 15054842

  • 1. 9q34.3 deletion syndrome in three unrelated children.
    Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N.
    Am J Med Genet A; 2004 Apr 30; 126A(3):278-83. PubMed ID: 15054842
    [Abstract] [Full Text] [Related]

  • 2. A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome.
    Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N.
    J Hum Genet; 2004 Apr 30; 49(8):440-444. PubMed ID: 15258833
    [Abstract] [Full Text] [Related]

  • 3. Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report.
    Tos T, Alp MY, Eker HK, Cebi AH, Ikbal M.
    Genet Couns; 2014 Apr 30; 25(1):35-9. PubMed ID: 24783653
    [Abstract] [Full Text] [Related]

  • 4. Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).
    Mizuno S, Fukushi D, Kimura R, Yamada K, Yamada Y, Kumagai T, Wakamatsu N.
    Am J Med Genet A; 2011 Sep 30; 155A(9):2274-80. PubMed ID: 21834029
    [Abstract] [Full Text] [Related]

  • 5. A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).
    Balci S, Aypar E, Beksaç MS, Bartsch O.
    Genet Couns; 2009 Sep 30; 20(2):125-32. PubMed ID: 19650409
    [Abstract] [Full Text] [Related]

  • 6. Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.
    Schimmenti LA, Higgins RR, Mendelsohn NJ, Casey TM, Steinberger J, Mammel MC, Wiesner GL.
    Am J Med Genet; 1995 May 22; 57(1):52-6. PubMed ID: 7645598
    [Abstract] [Full Text] [Related]

  • 7. Familial partial trisomy of the long arm of chromosome 10 (q24-26).
    Moreno-Fuenmayor H, Zackai EH, Mellman WJ, Aronson M.
    Pediatrics; 1975 Nov 22; 56(5):756-61. PubMed ID: 1196732
    [Abstract] [Full Text] [Related]

  • 8. Trisomy 9 syndrome.
    Qazi QH, Masakawa A, Madahar C, Ehrlich R.
    Clin Genet; 1977 Oct 22; 12(4):221-6. PubMed ID: 912938
    [Abstract] [Full Text] [Related]

  • 9. Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.
    Yeşilyurt A, Dilli D, Oguz S, Dilmen U, Altug N, Candemir Z.
    Genet Couns; 2011 Oct 22; 22(1):35-40. PubMed ID: 21614986
    [Abstract] [Full Text] [Related]

  • 10. Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).
    D'Alessandro E, Ligas C, Lo Re ML, Marcanio MP, Gentile T, Del Porto G.
    J Med Genet; 1994 May 22; 31(5):413-5. PubMed ID: 8064823
    [Abstract] [Full Text] [Related]

  • 11. Partial trisomy 10q: a recognizable syndrome.
    Klep-de Pater JM, Bijlsma JB, de France HF, Leschot NJ, Duijndam-van den Berge M, van Hemel JO.
    Hum Genet; 1979 Jan 19; 46(1):29-40. PubMed ID: 429004
    [Abstract] [Full Text] [Related]

  • 12. Trisomy 1q42-qter associated with monosomy 6q27-qter: a case report.
    Tartaglia E, Mastrantonio P, Costa D, Giugliano B, Porcellini A, Costagliola C.
    Eur J Ophthalmol; 2011 Jan 19; 21(3):315-9. PubMed ID: 20954143
    [Abstract] [Full Text] [Related]

  • 13. Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patients.
    Dallapiccola B, Bricarelli FD, Quartino AR, Mazzilli MC, Chisci R, Gandini E.
    Acta Genet Med Gemellol (Roma); 1978 Jan 19; 27():57-66. PubMed ID: 751383
    [Abstract] [Full Text] [Related]

  • 14. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.
    Nadal M, Milà M, Pritchard M, Mur A, Pujals J, Blouin JL, Antonarakis SE, Ballesta F, Estivill X.
    Hum Genet; 1996 Oct 19; 98(4):460-6. PubMed ID: 8792823
    [Abstract] [Full Text] [Related]

  • 15. Characterization of a Complex Chromosomal Rearrangement Involving a de novo Duplication of 9p and 9q and a Deletion of 9q.
    Martín-De Saro MD, Valdés-Miranda JM, Plaza-Benhumea L, Pérez-Cabrera A, Gonzalez-Huerta LM, Guevara-Yañez R, Cuevas-Covarrubias SA.
    Cytogenet Genome Res; 2015 Oct 19; 147(2-3):124-9. PubMed ID: 26900692
    [Abstract] [Full Text] [Related]

  • 16. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
    la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tümer Z.
    Am J Med Genet A; 2013 Jun 19; 161A(6):1447-52. PubMed ID: 23633410
    [Abstract] [Full Text] [Related]

  • 17. Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants.
    Kozma C, Slavotinek AM, Meck JM.
    Am J Med Genet A; 2004 Jan 15; 124A(2):118-28. PubMed ID: 14699608
    [Abstract] [Full Text] [Related]

  • 18. Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).
    Binkert F, Stranzinger J, Schinzel A.
    Hum Hered; 1990 Jan 15; 40(2):81-4. PubMed ID: 2335369
    [Abstract] [Full Text] [Related]

  • 19. Cryptic translocation t(5;18) in familial mental retardation.
    Vogels A, Devriendt K, Vermeesch JR, Van Dael R, Marynen P, Dewaele P, Hageman J, Holvoet M, Fryns JP.
    Ann Genet; 2000 Jan 15; 43(3-4):117-23. PubMed ID: 11164192
    [Abstract] [Full Text] [Related]

  • 20. Monosomy 10qter.
    Turleau C, de Grouchy J, Ponsot G, Bouygues D.
    Hum Genet; 1979 Apr 05; 47(3):233-7. PubMed ID: 457112
    [Abstract] [Full Text] [Related]

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