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 *

388 related articles for article (PubMed ID: 2349049)

  • 1. [Complete chromosome 22 trisomy syndrome in 2 children with microcephaly and mental retardation].
    Novikov PV; Zaletaeva TA; Khuberian NB; Khlybova GP
    Pediatriia; 1990; (2):89-92. PubMed ID: 2349049
    [No Abstract]   [Full Text] [Related]  

  • 2. Distal aphalangia, microcephaly and mental retardation.
    Wickramasinghe VP; Lamabadusuriya SP; Athapattu N
    Ceylon Med J; 2005 Mar; 50(1):33-4. PubMed ID: 15881564
    [No Abstract]   [Full Text] [Related]  

  • 3. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.
    Ariss M; Natan K; Friedman N; Traboulsi EI
    Ophthalmic Genet; 2012 Sep; 33(3):159-60. PubMed ID: 22486326
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
    Meinecke P
    Genet Couns; 1993; 4(2):147-51. PubMed ID: 8395190
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?
    van Buggenhout G; Decock P; Fryns JP
    Genet Couns; 1996; 7(1):53-9. PubMed ID: 8652089
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
    Valetto A; Orsini A; Bertini V; Toschi B; Bonuccelli A; Simi F; Sammartino I; Taddeucci G; Simi P; Saggese G
    Eur J Med Genet; 2012 May; 55(5):362-6. PubMed ID: 22548977
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.
    Koç A; Kan D; Karaer K; Ergün MA; Karaoğuz MY; Gücüyener K; Hinreiner S; Liehr T; Perçin EF
    Eur J Pediatr; 2008 Jun; 167(6):655-9. PubMed ID: 17668239
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Free proximal trisomy 21 without the Down syndrome.
    Park JP; Wurster-Hill DH; Andrews PA; Cooley WC; Graham JM
    Clin Genet; 1987 Nov; 32(5):342-8. PubMed ID: 2446809
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15pplus;9qminus) in three generations.
    Podruch PE; Weisskopf B
    J Pediatr; 1974 Jul; 85(1):92-5. PubMed ID: 4855265
    [No Abstract]   [Full Text] [Related]  

  • 10. Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome.
    Green B; Nikkhah D; Cobb AR; Dunaway DJ
    J Plast Reconstr Aesthet Surg; 2013 Aug; 66(8):e234-5. PubMed ID: 23664577
    [No Abstract]   [Full Text] [Related]  

  • 11. Trisomy 13 (Patau syndrome) with an 11-year survival.
    Zoll B; Wolf J; Lensing-Hebben D; Pruggmayer M; Thorpe B
    Clin Genet; 1993 Jan; 43(1):46-50. PubMed ID: 8462196
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.
    Cerruti Mainardi P; Pastore G; Zweier C; Rauch A
    J Med Genet; 2004 Feb; 41(2):e16. PubMed ID: 14757866
    [No Abstract]   [Full Text] [Related]  

  • 13. A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures.
    van Haeringen A; Hurst JA; Savidge R; Baraitser M
    J Med Genet; 1990 Feb; 27(2):127-9. PubMed ID: 2319580
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report.
    Wong SL; Chou HH; Chao CN; Leung JH; Chen YH; Hsu CD
    BMC Res Notes; 2015 Jun; 8():250. PubMed ID: 26088875
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.
    Zerem A; Vinkler C; Michelson M; Leshinsky-Silver E; Lerman-Sagie T; Lev D
    Am J Med Genet A; 2011 Dec; 155A(12):2991-6. PubMed ID: 22052843
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Smith-Lemli-Opitz syndrome].
    Metzke H; Lässig W; Köhler H
    Padiatr Padol; 1972; 7(3):259-66. PubMed ID: 5056401
    [No Abstract]   [Full Text] [Related]  

  • 17. A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26).
    Akbas E; Polat S; Karakas-Celik S; Altintas ZM; Yildirim M; Yilgor E
    Genet Couns; 2011; 22(4):417-23. PubMed ID: 22303803
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Partial trisomy of short arm of chromosome 8 (46,XY, inv dup (8) (p21-->pter) in a Bedouin child with multiple congenital anomalies and mental retardation.
    Redha AA; Murthy DS; Kandil H; Farag TI; Usha R; al-Awadi SA; Jeryan LA; al-Nagdy K; el-Ghanem M
    Indian J Pediatr; 1994; 61(3):301-6. PubMed ID: 7960007
    [No Abstract]   [Full Text] [Related]  

  • 19. [The abnormality-retardation syndrome].
    Neuhäuser G
    Monatsschr Kinderheilkd (1902); 1978 May; 126(5):259-63. PubMed ID: 651909
    [No Abstract]   [Full Text] [Related]  

  • 20. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
    Preiksaitiene E; Männik K; Dirse V; Utkus A; Ciuladaite Z; Kasnauskiene J; Kurg A; Kučinskas V
    Eur J Med Genet; 2012 Nov; 55(11):656-9. PubMed ID: 22842074
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.