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Journal Abstract Search

174 related items for PubMed ID: 33750016

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

  • 2. 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]

  • 3. 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]

  • 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 28; 29(4):992-8. PubMed ID: 23996431
    [Abstract] [Full Text] [Related]

  • 5. 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 28; 182(12):3029-3034. PubMed ID: 33010201
    [Abstract] [Full Text] [Related]

  • 6. [Kenny-Caffey syndrome and its related syndromes].
    Isojima T, Kitanaka S.
    Nihon Rinsho; 2015 Nov 28; 73(11):1959-64. PubMed ID: 26619675
    [Abstract] [Full Text] [Related]

  • 7.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Cheng S, Lo IFM, Luk HM.
    ; 1993 Nov 28. PubMed ID: 37023242
    [Abstract] [Full Text] [Related]

  • 8. 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 28; 86(4):394-5. PubMed ID: 24635597
    [No 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 28; 12(4):e2433. PubMed ID: 38591167
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 03; 185(2):636-646. PubMed ID: 33263187
    [Abstract] [Full Text] [Related]

  • 12. Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review.
    Puvabanditsin S, February M, Stefano VD, Vinod S, Minerowicz C, Hussein K, Mayne J, Mehta R.
    Genet Couns; 2016 Feb 03; 27(2):149-57. PubMed ID: 29485259
    [Abstract] [Full Text] [Related]

  • 13. 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 Feb 03; 13():1073173. PubMed ID: 36686468
    [Abstract] [Full Text] [Related]

  • 14. 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 03; 69():104943. PubMed ID: 38679371
    [Abstract] [Full Text] [Related]

  • 15. Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.
    Pemberton L, Barker R, Cockell A, Ramachandran V, Haworth A, Homfray T.
    BMC Med Genet; 2020 Jan 07; 21(1):7. PubMed ID: 31910817
    [Abstract] [Full Text] [Related]

  • 16. Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis.
    Turner AE, Abu-Ghname A, Davis MJ, Shih L, Volk AS, Streff H, Buchanan EP.
    J Craniofac Surg; 2020 Jan 07; 31(5):e471-e475. PubMed ID: 32310878
    [Abstract] [Full Text] [Related]

  • 17. 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 07; 55(8-9):441-5. PubMed ID: 22522175
    [Abstract] [Full Text] [Related]

  • 18. Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.
    Elliott AM, Wilcox WR, Spear GS, Field FM, Steffensen TS, Friedman BD, Rimoin DL, Lachman RS.
    Am J Med Genet A; 2006 Jul 15; 140(14):1553-63. PubMed ID: 16770805
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 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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