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 *

127 related articles for article (PubMed ID: 9482650)

  • 1. Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome.
    Tonoki H; Saitoh S; Kobayashi K
    Am J Med Genet; 1998 Feb; 75(4):416-8. PubMed ID: 9482650
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.
    Rauen KA; Cotter PD; Bitts SM; Cox VA; Golabi M
    Am J Med Genet; 2000 Jul; 93(3):219-22. PubMed ID: 10925386
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotype-genotype correlation in two patients with 12q proximal deletion.
    Miyake N; Tonoki H; Gallego M; Harada N; Shimokawa O; Yoshiura K; Ohta T; Kishino T; Niikawa N; Matsumoto N
    J Hum Genet; 2004; 49(5):282-4. PubMed ID: 15362574
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multiple "marker" chromosomes: a novel cytogenetic finding in a patient with mental retardation and congenital anomalies.
    Tozzi C; Calvieri F; Alesi L; Neri G
    Am J Med Genet; 1988 Feb; 29(2):355-9. PubMed ID: 3354606
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mental retardation and Y/8 translocation [karyotype: 46,XY, t(Y;8)(q12;q24)] in father and son.
    Fryns JP; Kleczkowska A; Dereymaeker AM; Van den Berghe H
    Helv Paediatr Acta; 1988 Aug; 43(1-2):87-90. PubMed ID: 3170249
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly.
    Zhang SZ; Tang YC; Dai FP; Niebuhr E
    Clin Genet; 1990 Feb; 37(2):153-7. PubMed ID: 2311266
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Genetic analysis of a patient featuring developmental delay and mental retardation].
    Bai N; Liu Y; Mei S; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):208-11. PubMed ID: 27060317
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.
    Courtens W; Grossman D; Van Roy N; Messiaen L; Vamos E; Toppet V; Haumont D; Streydio C; Jauch A; Vermeesch JR; Speleman F
    Hum Genet; 1998 Oct; 103(4):497-505. PubMed ID: 9856497
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mapping a gene for Noonan syndrome to the long arm of chromosome 12.
    Jamieson CR; van der Burgt I; Brady AF; van Reen M; Elsawi MM; Hol F; Jeffery S; Patton MA; Mariman E
    Nat Genet; 1994 Dec; 8(4):357-60. PubMed ID: 7894486
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pure trisomy 2p syndrome in two siblings with an unbalanced translocation and minimal terminal 12q monosomy characterized by high-density microarray.
    Martínez-Juárez A; Uribe-Figueroa L; Quintana-Palma M; Razo-Aguilera G; Sevilla-Montoya R
    Cytogenet Genome Res; 2014; 142(4):249-54. PubMed ID: 24751616
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?
    Rauen KA; Albertson DG; Pinkel D; Cotter PD
    Am J Med Genet; 2002 Jun; 110(1):51-6. PubMed ID: 12116271
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion.
    Lukusa T; Devriendt K; Holvoet M; Fryns JP
    Clin Genet; 1998 Sep; 54(3):224-30. PubMed ID: 9788726
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cardio-facio-cutaneous syndrome phenotype and del(12q).
    Rauen KA; Cotter PD
    Am J Med Genet A; 2003 Feb; 116A(4):411-2. PubMed ID: 12522803
    [No Abstract]   [Full Text] [Related]  

  • 14. The Noonan syndrome. The Nancy experience revisited.
    Chery M; Philippe C; Worms AM; Gilgenkrantz S
    Genet Couns; 1993; 4(2):113-8. PubMed ID: 8357561
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Chromosome 13 long arm interstitial deletion associated with features of Noonan phenotype.
    Onufer CN; Stephan MJ; Thuline HC; Char F
    Ann Genet; 1987; 30(4):236-9. PubMed ID: 3501267
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.
    Koiffmann CP; Gonzalez CH; Vianna-Morgante AM; Kim CA; Odone-Filho V; Wajntal A
    Am J Med Genet; 1995 Jul; 58(1):46-9. PubMed ID: 7573155
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4).
    Fujimoto A; Reddy KS; Spinks R
    Am J Med Genet; 1998 Jan; 75(1):78-81. PubMed ID: 9450862
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.
    Schinzel A; Brecevic L; Dutly F; Baumer A; Binkert F; Largo RH
    J Med Genet; 1997 Dec; 34(12):1012-4. PubMed ID: 9429145
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1).
    Chinen Y; Kaname T; Yanagi K; Saito N; Naritomi K; Ohta T
    Am J Med Genet A; 2006 Aug; 140(15):1655-7. PubMed ID: 16835930
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prolapse of all cardiac valves in Noonan syndrome.
    Otikunta AN; Subbareddy YV; Polamuri P; Thakkar A
    BMJ Case Rep; 2015 Feb; 2015():. PubMed ID: 25716036
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.