BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 17140870)

  • 1. Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.
    Priolo M; Ciccone R; Bova I; Campolo G; Laganà C; Zuffardi O
    Eur J Med Genet; 2007; 50(2):139-43. PubMed ID: 17140870
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Malpuech syndrome: a possible relationship with the Wolf-Hirschhorn/Pitt-Roger-Danks phenotype.
    Selicorni A; Faravelli F
    Am J Med Genet; 2000 Nov; 95(3):291. PubMed ID: 11102941
    [No Abstract]   [Full Text] [Related]  

  • 3. Short stature, mental retardation, eye anomalies, and cleft lip/palate.
    Richieri-Costa A; Guion-Almeida ML
    Am J Med Genet; 1992 Feb; 42(4):449-52. PubMed ID: 1609826
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.
    Malpuech G; Demeocq F; Palcoux JB; Vanlieferinghen P
    Am J Med Genet; 1983 Dec; 16(4):475-80. PubMed ID: 6660246
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Genetic morphologic fatal syndromes. Roberts syndrome].
    Henkel KE; Pfeiffer RA; Stöss H
    Pathologe; 1993 Sep; 14(5):273-5. PubMed ID: 8415439
    [No Abstract]   [Full Text] [Related]  

  • 6. Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter.
    Chao A; Lee YS; Chao AS; Wang TH; Chang SD
    Birth Defects Res A Clin Mol Teratol; 2006 Oct; 76(10):739-43. PubMed ID: 17022067
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Van der Woude syndrome with mental retardation: case report.
    Ugwu BT; Momoh JT
    East Afr Med J; 2001 Feb; 78(2):111-2. PubMed ID: 11682943
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Syndrome identification case report 92: Hirschsprung megacolon, cleft lip and palate, mental retardation, and minor congenital malformations.
    Brunoni D; Joffe R; Farah LM; Cunha AJ
    J Clin Dysmorphol; 1983; 1(1):20-2. PubMed ID: 6580385
    [No Abstract]   [Full Text] [Related]  

  • 9. Cleft lip and palate, corneal opacities and profound psychomotor retardation. A newly recognized genetic syndrome?
    Anyane-Yeboa K; Mackay C; Taterka P; Merkrebs A; Allendorf D
    Cleft Palate J; 1983 Jul; 20(3):246-50. PubMed ID: 6577987
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Confirmation of Kapur-Toriello syndrome in an Italian patient.
    Zelante L; Candela MA; Savoia A; Gasparini P
    Clin Dysmorphol; 1999 Apr; 8(2):151-3. PubMed ID: 10319207
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.
    Rooryck C; Burgelin I; Stef M; Taine L; Thambo JB; Lacombe D; Arveiler B
    Eur J Med Genet; 2008; 51(1):74-80. PubMed ID: 18024240
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.
    Stankiewicz P; Beaudet AL
    Curr Opin Genet Dev; 2007 Jun; 17(3):182-92. PubMed ID: 17467974
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.
    Camera G; Centa A; Pozzolo S; Camera A
    Clin Dysmorphol; 1993 Oct; 2(4):317-21. PubMed ID: 8305962
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features.
    Leal T; Andrieux J; Duban-Bedu B; Bouquillon S; Brevière GM; Delobel B
    Eur J Med Genet; 2009; 52(1):62-6. PubMed ID: 19022414
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity.
    Nakata NM; Guion-Almeida ML; Richieri-Costa A
    Am J Med Genet; 1993 Sep; 47(3):330-2. PubMed ID: 8135276
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?
    Riegel M; Schinzel A
    Am J Med Genet; 2002 Jul; 111(1):76-80. PubMed ID: 12124740
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome.
    Bottani A; Schinzel A
    Clin Dysmorphol; 1993 Jul; 2(3):225-31. PubMed ID: 8287184
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
    Vajsar J; Baskin B; Swoboda K; Biggar DW; Schachter H; Ray PN
    Neuromuscul Disord; 2008 Aug; 18(8):675-7. PubMed ID: 18640039
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Popliteal pterygium syndrome. A exceptional case].
    Brun MF; Delcampe P; Retout A; Bachy B; Peron JM
    Rev Stomatol Chir Maxillofac; 1994; 95(5):343-7. PubMed ID: 7984954
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.
    Kitsiou-Tzeli S; Sismani C; Koumbaris G; Ioannides M; Kanavakis E; Kolialexi A; Mavrou A; Touliatou V; Patsalis PC
    Eur J Med Genet; 2008; 51(1):61-7. PubMed ID: 17998173
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.