BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 3608216)

  • 1. Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies in a mother and son.
    Kawashima H; Tsuji N
    Clin Genet; 1987 May; 31(5):303-7. PubMed ID: 3608216
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity.
    Silengo MC; Bell GL; Biagioli M; Guala A; Bianco R; Strandoni P; De Sario PN; Franceschini P
    Clin Genet; 1986 Dec; 30(6):481-4. PubMed ID: 3815881
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A patient with 9q subtelomeric deletion syndrome with additional findings.
    Tug E; Cavdarli B; Karaoguz MY; Percin FE
    Genet Couns; 2012; 23(4):465-71. PubMed ID: 23431745
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Coffin-Lowry syndrome and schizophrenia: a family report.
    Collacott RA; Warrington JS; Young ID
    J Ment Defic Res; 1987 Jun; 31 ( Pt 2)():199-207. PubMed ID: 3625766
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies.
    Huson SM; Crowley S; Hall CM; Supramaniam G; Winter RM
    Clin Dysmorphol; 1993 Jan; 2(1):20-7. PubMed ID: 8298734
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20.
    Vivarelli R; Zuffardi O; Maraschio P; Anichini C; Scarinci R
    Hum Genet; 1988 Aug; 79(4):385-8. PubMed ID: 3410463
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization.
    Fukazawa R; Nakahori Y; Kogo T; Kawakami T; Akamatsu H; Tanae A; Hibi I; Nagafuchi S; Nakagome Y; Hirayama T
    Acta Paediatr; 1992; 81(6-7):570-2. PubMed ID: 1392379
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?
    Winship IM; Viljoen DL; Leary PM; De Moor MM
    J Med Genet; 1991 Sep; 28(9):619-21. PubMed ID: 1956062
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?
    Guion-Almeida ML; Vendramini-Pittoli S; Passos-Bueno MR; Zechi-Ceide RM
    Am J Med Genet A; 2009 Dec; 149A(12):2762-4. PubMed ID: 19921636
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency.
    Weaver DD; Williams CP
    Birth Defects Orig Artic Ser; 1977; 13(3B):69-84. PubMed ID: 890101
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A syndrome with multiple malformations, mental retardation, and ACTH deficiency.
    Kajantie E; Otonkoski T; Kivirikko S; Somer M
    Am J Med Genet A; 2004 Apr; 126A(3):313-8. PubMed ID: 15054849
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.
    Mowat DR; Croaker GD; Cass DT; Kerr BA; Chaitow J; Adès LC; Chia NL; Wilson MJ
    J Med Genet; 1998 Aug; 35(8):617-23. PubMed ID: 9719364
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Goldberg-Shprintzen syndrome: report of a new family and review of the literature.
    Fryer AE
    Clin Dysmorphol; 1998 Apr; 7(2):97-101. PubMed ID: 9571278
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Genetic heterogeneity in Seckel syndrome].
    Labrune P
    Arch Pediatr; 2004 Apr; 11(4):368-9. PubMed ID: 15139328
    [No Abstract]   [Full Text] [Related]  

  • 17. Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?
    van Maldergem L; Wetzburger C; Verloes A; Fourneau C; Gillerot Y
    Clin Genet; 1992 Jan; 41(1):22-4. PubMed ID: 1633641
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. The phenotype of ring chromosome 3.
    Wilson GN; Pooley J; Parker J
    J Med Genet; 1982 Dec; 19(6):471-3. PubMed ID: 7154048
    [TBL] [Abstract][Full Text] [Related]  

  • 20. DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.
    Patton MA; Krywawych S; Winter RM; Brenton DP; Baraitser M
    Am J Med Genet; 1987 Jan; 26(1):207-15. PubMed ID: 3812564
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.