BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 1132883)

  • 1. Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome).
    Cantwell RJ
    Humangenetik; 1975; 26(3):261-5. PubMed ID: 1132883
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome.
    Qazi QH; Nangia BS
    J Pediatr; 1984 Mar; 104(3):391-4. PubMed ID: 6707793
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome.
    Nevin NC; Thomas PS; Calvert J; Reid MM
    Am J Med Genet; 1982 Nov; 13(3):325-32. PubMed ID: 7180877
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 5. The Coffin-Siris syndrome.
    Schinzel A
    Acta Paediatr Scand; 1979 May; 68(3):449-52. PubMed ID: 155976
    [TBL] [Abstract][Full Text] [Related]  

  • 6. DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases.
    Lin HJ; Kakkis ED; Eteson DJ; Lachman RS
    Am J Med Genet; 1993 Sep; 47(4):534-9. PubMed ID: 8256819
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome.
    Thornton CM; Magee AC; Thomas PS; Feakins R; Nevin NC; O'Hara MD
    Pediatr Pathol; 1994; 14(5):797-803. PubMed ID: 7808978
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature.
    Danarti R; Rahmayani S; Wirohadidjojo YW; Chen W
    Eur J Dermatol; 2020 Aug; 30(4):404-407. PubMed ID: 32969800
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.
    Cuevas-Sosa A; García-Segur F
    J Bone Joint Surg Br; 1971 Feb; 53(1):101-5. PubMed ID: 4325377
    [No Abstract]   [Full Text] [Related]  

  • 10. The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome.
    Temtamy SA; Miller JD; Hussels-Maumenee I
    J Pediatr; 1975 May; 86(5):724-31. PubMed ID: 1133653
    [TBL] [Abstract][Full Text] [Related]  

  • 11. New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities.
    Battaglia A; Ferrari AR; Orsitto E; Gibilisco G; Neri G
    Clin Dysmorphol; 1996 Jan; 5(1):41-7. PubMed ID: 8867658
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.
    Santos H; Mateus J; Leal MJ
    J Med Genet; 1988 Mar; 25(3):204-5. PubMed ID: 3351909
    [TBL] [Abstract][Full Text] [Related]  

  • 13. DOOR syndrome: report of three additional cases.
    Félix TM; de Menezes Karam S; Della Rosa VA; Moraes AM
    Clin Dysmorphol; 2002 Apr; 11(2):133-8. PubMed ID: 12002145
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Familial deafness with osteo-onycho-dysplasia].
    Walbaum R; Fontaine G; Lienhardt J; Piquet JJ
    J Genet Hum; 1970 May; 18(1):101-8. PubMed ID: 5516283
    [No Abstract]   [Full Text] [Related]  

  • 15. Pre- and postnatal growth retardation--severe mental retardation--acral limb deficiencies with poorly keratinized nails. Another example of a distinct syndrome of inherited intrauterine dwarfism?
    Cartwright J; Nelson M; Fryns JP
    Genet Couns; 1991; 2(3):147-50. PubMed ID: 1801850
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
    Gao X; Dai P; Yuan YY
    Hum Genet; 2022 Apr; 141(3-4):821-838. PubMed ID: 34232384
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome].
    Szabó L; Kocsis K; Hollódy K; Soroncz M; Erwa W; Andits M
    Orv Hetil; 2004 May; 145(22):1183-7. PubMed ID: 15279406
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [The Coffin-Siris syndrome. A new syndrome of mental retardation, hypo-aplasia of the nails and terminal phalanges of the 5th fingers and toes].
    Mastroiacovo P; Salvaggio E; Parenti D
    Minerva Pediatr; 1977 Mar; 29(11):773-8. PubMed ID: 875947
    [No Abstract]   [Full Text] [Related]  

  • 19. DOOR syndrome: additional case and literature review.
    Bos CJ; Ippel PF; Beemer FA
    Clin Dysmorphol; 1994 Jan; 3(1):15-20. PubMed ID: 8205321
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A new case of DOOR syndrome.
    Wiśniewska M; Siwińska Z; Felczak M; Wielkoszyński T; Krawczyński M; Latos-Bieleńska A
    J Appl Genet; 2008; 49(1):101-3. PubMed ID: 18263975
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.