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Journal Abstract Search

135 related items for PubMed ID: 38679371

  • 1. 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
    [Abstract] [Full Text] [Related]

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

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 06; 92(6):990-5. PubMed ID: 23684011
    [Abstract] [Full Text] [Related]

  • 7. 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 06; 185(2):636-646. PubMed ID: 33263187
    [Abstract] [Full Text] [Related]

  • 8. 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 06; 185(6):1903-1907. PubMed ID: 33750016
    [Abstract] [Full Text] [Related]

  • 9. Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.
    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 Jun 06; 13():1073173. PubMed ID: 36686468
    [Abstract] [Full Text] [Related]

  • 10.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Cheng S, Lo IFM, Luk HM.
    ; 1993 Jun 06. PubMed ID: 37023242
    [Abstract] [Full Text] [Related]

  • 11. 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 06; 182(12):3029-3034. PubMed ID: 33010201
    [Abstract] [Full Text] [Related]

  • 12. Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2.
    Eren E, Tezcan Ünlü H, Ceylaner S, Tarım Ö.
    J Clin Res Pediatr Endocrinol; 2023 Feb 27; 15(1):97-102. PubMed ID: 34382758
    [Abstract] [Full Text] [Related]

  • 13. 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 28; 13(2):. PubMed ID: 35205306
    [Abstract] [Full Text] [Related]

  • 14. 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 Jan 28; 55(8-9):441-5. PubMed ID: 22522175
    [Abstract] [Full Text] [Related]

  • 15. Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
    Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF.
    J Clin Endocrinol Metab; 2023 Aug 18; 108(9):e754-e768. PubMed ID: 36916904
    [Abstract] [Full Text] [Related]

  • 16. Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.
    Abraham MB, Li D, Tang D, O'Connell SM, McKenzie F, Lim EM, Hakonarson H, Levine MA, Choong CS.
    Int J Pediatr Endocrinol; 2017 Aug 18; 2017():1. PubMed ID: 28138333
    [Abstract] [Full Text] [Related]

  • 17. Unusual cause of short stature.
    Larsen JL, Kivlin J, Odell WD.
    Am J Med; 1985 Jun 18; 78(6 Pt 1):1025-32. PubMed ID: 3893111
    [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 18; 14(4):773-82. PubMed ID: 6342392
    [Abstract] [Full Text] [Related]

  • 19. Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report.
    Yuan N, Lu L, Xing XP, Wang O, Jiang Y, Wu J, He MH, Wang XJ, Cao LW.
    World J Clin Cases; 2023 Apr 06; 11(10):2290-2300. PubMed ID: 37122511
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 42(1):112-6. PubMed ID: 1308349
    [Abstract] [Full Text] [Related]

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