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Journal Abstract Search

250 related items for PubMed ID: 23684011

  • 1. 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]

  • 2. 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]

  • 3. 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 06; 29(4):992-8. PubMed ID: 23996431
    [Abstract] [Full Text] [Related]

  • 4. [Kenny-Caffey syndrome and its related syndromes].
    Isojima T, Kitanaka S.
    Nihon Rinsho; 2015 Nov 06; 73(11):1959-64. PubMed ID: 26619675
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  • 5.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Cheng S, Lo IFM, Luk HM.
    ; 1993 Nov 06. PubMed ID: 37023242
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  • 6. 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]

  • 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. FAM111A induces nuclear dysfunction in disease and viral restriction.
    Nie M, Oravcová M, Jami-Alahmadi Y, Wohlschlegel JA, Lazzerini-Denchi E, Boddy MN.
    EMBO Rep; 2021 Feb 03; 22(2):e50803. PubMed ID: 33369867
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 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 28; 69():104943. PubMed ID: 38679371
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  • 13. 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
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  • 14. 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 27; 12(4):e2433. PubMed ID: 38591167
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  • 19. Disruption of the c-terminal serine protease domain of Fam111a does not alter calcium homeostasis in mice.
    Tan RSG, Lee CHL, Pan W, Wohlgemuth S, Doschak MR, Alexander RT.
    Physiol Rep; 2024 May 27; 12(9):e15977. PubMed ID: 38697929
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