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Journal Abstract Search

147 related items for PubMed ID: 31910817

  • 21. 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
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  • 22. Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
    Han J, Yang YD, He Y, Liu WJ, Zhen L, Pan M, Yang X, Zhang VW, Liao C, Li DZ.
    Prenat Diagn; 2020 Apr 15; 40(5):577-584. PubMed ID: 31994750
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  • 23. Prenatal diagnosis of Baraitser - Winter syndrome using exome sequencing: Clinical report and review of literature.
    Papamichail M, Manolakos E, Papoulidis I, Siomou E, Eleftheriades A, Marinakis I, Tzanakis K, Sartsidis A, Vlahos NF, Eleftheriades M.
    Eur J Med Genet; 2021 Nov 15; 64(11):104318. PubMed ID: 34450357
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  • 24. 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 Nov 15; 27(2):149-57. PubMed ID: 29485259
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  • 29. Perinatal approach to skeletal dysplasia.
    MacDonald MR, Welsh MP.
    Nebr Med J; 1995 Nov 15; 80(11):334-5. PubMed ID: 8524439
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  • 30. FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.
    Hatzaki A, Sifakis S, Apostolopoulou D, Bouzarelou D, Konstantinidou A, Kappou D, Sideris A, Tzortzis E, Athanassiadis A, Florentin L, Theodoropoulos P, Makatsoris C, Karadimas C, Velissariou V.
    Am J Med Genet A; 2011 Oct 15; 155A(10):2426-35. PubMed ID: 21910223
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  • 34. Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.
    Zrhidri A, Jaouad IC, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.
    Gene; 2017 Sep 10; 628():190-193. PubMed ID: 28694206
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  • 35. Whole exome sequencing for prenatal diagnosis in cases with fetal anomalies: Criteria to improve diagnostic yield.
    Yadava SM, Ashkinadze E.
    J Genet Couns; 2019 Apr 10; 28(2):251-255. PubMed ID: 30629328
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  • 36. 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
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  • 40. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L.
    BMC Med Genet; 2019 Jan 14; 20(1):16. PubMed ID: 30642272
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