BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 5322798)

  • 1. Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son.
    Kenny FM; Linarelli L
    Am J Dis Child; 1966 Feb; 111(2):201-7. PubMed ID: 5322798
    [No Abstract]   [Full Text] [Related]  

  • 2. Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs--mother and son; coupled with transitory hypocalcemic tetany.
    Caffey J
    Am J Roentgenol Radium Ther Nucl Med; 1967 May; 100(1):1-11. PubMed ID: 6023894
    [No Abstract]   [Full Text] [Related]  

  • 3. Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His.
    Nikkel SM; Ahmed A; Smith A; Marcadier J; Bulman DE; Boycott KM
    Clin Genet; 2014 Oct; 86(4):394-5. PubMed ID: 24635597
    [No Abstract]   [Full Text] [Related]  

  • 4. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.
    Franceschini P; Testa A; Bogetti G; Girardo E; Guala A; Lopez-Bell G; Buzio G; Ferrario E; Piccato E
    Am J Med Genet; 1992 Jan; 42(1):112-6. PubMed ID: 1308349
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Kenny-Caffey syndrome and its related syndromes].
    Isojima T; Kitanaka S
    Nihon Rinsho; 2015 Nov; 73(11):1959-64. PubMed ID: 26619675
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).
    Chen X; Zou C
    Mol Genet Genomic Med; 2024 Apr; 12(4):e2433. PubMed ID: 38591167
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Cortical hyperostosis and narrowing of the medullary canal of bones with increased blood phosphorus and alkaline phosphatase].
    Le Loet X; Ducastelle C; Hemet J; Biga N; Deshayes P
    Sem Hop; 1976 Nov; 52(38):2149-54. PubMed ID: 186889
    [No Abstract]   [Full Text] [Related]  

  • 8. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.
    Isojima T; Doi K; Mitsui J; Oda Y; Tokuhiro E; Yasoda A; Yorifuji T; Horikawa R; Yoshimura J; Ishiura H; Morishita S; Tsuji S; Kitanaka S
    J Bone Miner Res; 2014 Apr; 29(4):992-8. PubMed ID: 23996431
    [TBL] [Abstract][Full Text] [Related]  

  • 9. FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
    Unger S; Górna MW; Le Béchec A; Do Vale-Pereira S; Bedeschi MF; Geiberger S; Grigelioniene G; Horemuzova E; Lalatta F; Lausch E; Magnani C; Nampoothiri S; Nishimura G; Petrella D; Rojas-Ringeling F; Utsunomiya A; Zabel B; Pradervand S; Harshman K; Campos-Xavier B; Bonafé L; Superti-Furga G; Stevenson B; Superti-Furga A
    Am J Hum Genet; 2013 Jun; 92(6):990-5. PubMed ID: 23684011
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.
    Tonelli L; Sanchini M; Margutti A; Buldrini B; Superti-Furga A; Ferlini A; Selvatici R; Bigoni S
    Eur J Med Genet; 2024 Jun; 69():104943. PubMed ID: 38679371
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Oral manifestations of patients with Kenny-Caffey Syndrome.
    Moussaid Y; Griffiths D; Richard B; Dieux A; Lemerrer M; Léger J; Lacombe D; Bailleul-Forestier I
    Eur J Med Genet; 2012; 55(8-9):441-5. PubMed ID: 22522175
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Unusual cause of hypocalcemic seizures in a neonate.
    Dewan P; Gidaganti S; Faridi MM; Batra P; Sudhanshu S
    Indian J Pediatr; 2014 Aug; 81(8):831-2. PubMed ID: 24297340
    [No Abstract]   [Full Text] [Related]  

  • 13. [Arabian variant of Kenny syndrome: a familial case in Tunisia].
    Fitouri Z; Fayech C; Ferchichi M; Ben Becher S
    Ann Endocrinol (Paris); 2005 Sep; 66(4):361-4. PubMed ID: 16392187
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [DOMINANT HEREDITARY SYNDROME, COMBINING CRANIO-FACIAL DYSOSTOSIS PECULIAR TYPE, GROWTH INSUFFICIENCY OF CHONDRODYSTROPHIC APPEARANCE, AND MASSIVE THICKENING OF OF THE CORTICES OF LONG BONES].
    STANESCO V; MAXIMILIAN C; POENARU S; FLOREA I; STANESCO R; IONESCO V; IOANITIU D
    Rev Fr Endocrinol Clin; 1963; 4():219-31. PubMed ID: 14049206
    [No Abstract]   [Full Text] [Related]  

  • 15. Lethal infantile cortical hyperostosis.
    Pomerance HH; Wallis-Crespo C; Barness EG
    Fetal Pediatr Pathol; 2005; 24(2):89-94. PubMed ID: 16243753
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Kenny-Caffey syndrome type 2.
    Yerawar C; Kabde A; Deokar P
    QJM; 2021 Jul; 114(4):267-269. PubMed ID: 32428224
    [No Abstract]   [Full Text] [Related]  

  • 17. Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.
    Cheng SSW; Chan PKJ; Luk HM; Mok MT; Lo IFM
    Am J Med Genet A; 2021 Feb; 185(2):636-646. PubMed ID: 33263187
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Albright's herediatary osteodystrophy (without hypocalcemia). (Brachymetacarpal dwarfism without tetany, or pseudo-pseudohypoparathyroidism). Report of a case and review of the literature.
    PAPAIOANNOU AC; MATSAS BE
    Pediatrics; 1963 Apr; 31():599-607. PubMed ID: 13941283
    [No Abstract]   [Full Text] [Related]  

  • 19. [Infantile cortical hyperostosis. Apropos of 2 cases one with lesions of the metaphyses].
    Alison M; Sterlin M; Poncet J; Michel C; Vinceneux G
    Pediatrie; 1968; 23(3):355-6. PubMed ID: 4920166
    [No Abstract]   [Full Text] [Related]  

  • 20. A possible lethal variant of metatropic dwarfism.
    Shanske AL; Baden M; Fernando M; Valderrama E
    Birth Defects Orig Artic Ser; 1982; 18(3B):135-44. PubMed ID: 7139094
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.