BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 7802014)

  • 41. A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature.
    Arbisser AI; Scott CI; Howell RR; Ong PS; Cox HL
    Birth Defects Orig Artic Ser; 1976; 12(5):219-28. PubMed ID: 953226
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy.
    Larbrisseau A; Carpenter S
    Neuropediatrics; 1982 May; 13(2):95-8. PubMed ID: 6182503
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.
    Sarasin A; Blanchet-Bardon C; Renault G; Lehmann A; Arlett C; Dumez Y
    Br J Dermatol; 1992 Nov; 127(5):485-91. PubMed ID: 1281671
    [TBL] [Abstract][Full Text] [Related]  

  • 44. [Importance and heterogenity of xeroderma pigmentosum syndrome].
    Jung EG
    Hautarzt; 1973 May; 24(5):175-9. PubMed ID: 4584914
    [No Abstract]   [Full Text] [Related]  

  • 45. Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum.
    Nuzzo F; Zei G; Stefanini M; Colognola R; Santachiara AS; Lagomarsini P; Marinoni S; Salvaneschi L
    J Med Genet; 1990 Jan; 27(1):21-5. PubMed ID: 2308151
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Chromosome and blood marker studies in families of patients affected by xeroderma pigmentosum and trichothiodystrophy.
    Nuzzo F; Stefanini M; Rocchi M; Casati A; Colognola R; Lagomarsini P; Marinoni S; Scozzari R
    Mutat Res; 1988 Jul; 208(3-4):159-61. PubMed ID: 3398868
    [TBL] [Abstract][Full Text] [Related]  

  • 47. [Case report on xeroderma pigmentosum].
    Meffert H
    Padiatr Grenzgeb; 1974; 13(2-3):177-82. PubMed ID: 4408760
    [No Abstract]   [Full Text] [Related]  

  • 48. Trichothiodystrophy, IBIDS syndrome or Tay syndrome?
    Kousseff BG; Esterly NB
    Birth Defects Orig Artic Ser; 1988; 24(2):169-81. PubMed ID: 3179425
    [No Abstract]   [Full Text] [Related]  

  • 49. PIBI(D)S syndrome: a new entity with defect of the deoxyribonucleic acid excision repair system.
    Crovato F; Rebora A
    J Am Acad Dermatol; 1985 Oct; 13(4):683-6. PubMed ID: 4078066
    [No Abstract]   [Full Text] [Related]  

  • 50. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
    Faghri S; Tamura D; Kraemer KH; Digiovanna JJ
    J Med Genet; 2008 Oct; 45(10):609-21. PubMed ID: 18603627
    [TBL] [Abstract][Full Text] [Related]  

  • 51. The conundrum of xeroderma pigmentosum--a rare disease with frequent complexities.
    Friedberg EC; Henning KA
    Mutat Res; 1993 Sep; 289(1):47-53. PubMed ID: 7689162
    [No Abstract]   [Full Text] [Related]  

  • 52. Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis.
    McCuaig C; Marcoux D; Rasmussen JE; Werner MM; Gentner NE
    J Am Acad Dermatol; 1993 May; 28(5 Pt 2):820-6. PubMed ID: 8491872
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Trichothiodystrophy without associated neuroectodermal defects.
    Peter C; Tomczok J; Hoting E; Behrendt H
    Br J Dermatol; 1998 Jul; 139(1):137-40. PubMed ID: 9764166
    [TBL] [Abstract][Full Text] [Related]  

  • 54. PIBIDS syndrome in two Brazilian siblings.
    Abagge KT; Haupenthal F; Felber GY; Raskin S
    BMJ Case Rep; 2018 Dec; 11(1):. PubMed ID: 30580289
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy.
    Savarirayan R; Gardner RJ; Sinclair RD; McDowell M; Cleaver JE
    J Med Genet; 2000 Apr; 37(4):312-4. PubMed ID: 10819642
    [No Abstract]   [Full Text] [Related]  

  • 56. A patient with Tay's syndrome.
    Motley RJ; Finlay AY
    Pediatr Dermatol; 1989 Sep; 6(3):202-5. PubMed ID: 2798258
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Xerodermic idiocy or De Sanctis Cacchione syndrome. A description of an 8-year-old patient with xeroderma pigmentosum, mental retardation, and dwarfism.
    Friedman A; Naveh Y; Haim S
    Clin Pediatr (Phila); 1973 Jan; 12(1):56-8. PubMed ID: 4683062
    [No Abstract]   [Full Text] [Related]  

  • 58. MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.
    Peserico A; Battistella PA; Bertoli P
    Neuroradiology; 1992; 34(4):316-7. PubMed ID: 1528442
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Immunological studies in children with xeroderma pigmentosum.
    Berkel AI; Kiran O
    Turk J Pediatr; 1974 Apr; 16(2):43-52. PubMed ID: 4469851
    [No Abstract]   [Full Text] [Related]  

  • 60. Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.
    King MD; Gummer CL; Stephenson JB
    J Med Genet; 1984 Aug; 21(4):286-9. PubMed ID: 6492094
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.