These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 24635597)

  • 1. 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]  

  • 2. 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]  

  • 3. Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report.
    Cavole TR; Perrone E; de Faria Soares MF; Dias da Silva MR; Maeda SS; Lazaretti-Castro M; Alvarez Perez AB
    Am J Med Genet A; 2020 Dec; 182(12):3029-3034. PubMed ID: 33010201
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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]  

  • 5. Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.
    Müller R; Steffensen T; Krstić N; Cain MA
    Am J Med Genet A; 2021 Jun; 185(6):1903-1907. PubMed ID: 33750016
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Case report: Late middle-aged features of
    Ohmachi Y; Urai S; Bando H; Yokoi J; Yamamoto M; Kanie K; Motomura Y; Tsujimoto Y; Sasaki Y; Oi Y; Yamamoto N; Suzuki M; Shichi H; Iguchi G; Uehara N; Fukuoka H; Ogawa W
    Front Endocrinol (Lausanne); 2022; 13():1073173. PubMed ID: 36686468
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. FAM111A is dispensable for electrolyte homeostasis in mice.
    Ilenwabor BP; Schigt H; Kompatscher A; Bos C; Zuidscherwoude M; van der Eerden BCJ; Hoenderop JGJ; de Baaij JHF
    Sci Rep; 2022 Jun; 12(1):10211. PubMed ID: 35715480
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease).
    de Jong G; Muller LM
    Am J Med Genet; 1995 Nov; 59(2):134-8. PubMed ID: 8588573
    [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. The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).
    Cho TJ; Moon HJ; Cho DY; Park MS; Lee DY; Yoo WJ; Chung CY; Choi IH
    J Hum Genet; 2008; 53(10):947. PubMed ID: 18704262
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy.
    Lee WK; Vargas A; Barnes J; Root AW
    Am J Med Genet; 1983 Apr; 14(4):773-82. PubMed ID: 6342392
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [The genetic factor in infantile cortical hyperostosis (Toni-Caffey-Silverman syndrome)].
    Boer GE; Battistella P
    Minerva Pediatr; 1966 Aug; 18(24):1291-9. PubMed ID: 4865843
    [No Abstract]   [Full Text] [Related]  

  • 20. Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
    Rosato S; Unger S; Campos-Xavier B; Caraffi SG; Beltrami L; Pollazzon M; Ivanovski I; Castori M; Bonasoni MP; Comitini G; Nikkels PGJ; Lindstrom K; Umandap C; Superti-Furga A; Garavelli L
    Genes (Basel); 2022 Jan; 13(2):. PubMed ID: 35205306
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.