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Journal Abstract Search
297 related items for PubMed ID: 12424591
1. Severe cleidocranial dysplasia can mimic hypophosphatasia. Unger S, Mornet E, Mundlos S, Blaser S, Cole DE. Eur J Pediatr; 2002 Nov; 161(11):623-6. PubMed ID: 12424591 [Abstract] [Full Text] [Related]
2. Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Morava E, Kárteszi J, Weisenbach J, Caliebe A, Mundlos S, Méhes K. Eur J Pediatr; 2002 Nov; 161(11):619-22. PubMed ID: 12424590 [Abstract] [Full Text] [Related]
3. Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. El-Gharbawy AH, Peeden JN, Lachman RS, Graham JM, Moore SR, Rimoin DL. Am J Med Genet A; 2010 Jan; 152A(1):169-74. PubMed ID: 20014132 [Abstract] [Full Text] [Related]
4. Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Stoll C, Fischbach M, Terzic J, Alembik Y, Vuillemin MO, Mornet E. Genet Couns; 2002 Jan; 13(3):289-95. PubMed ID: 12416636 [Abstract] [Full Text] [Related]
9. RUNX2 mutations in cleidocranial dysplasia. Lee KE, Seymen F, Ko J, Yildirim M, Tuna EB, Gencay K, Kim JW. Genet Mol Res; 2013 Oct 15; 12(4):4567-74. PubMed ID: 24222232 [Abstract] [Full Text] [Related]
10. Hypophosphatasia and cleidocranial dysplasia-a case report and review of the literature: the role of the neurosurgeon. Blionas A, Friehs GM, Zerris VA. Childs Nerv Syst; 2022 Feb 15; 38(2):461-464. PubMed ID: 34131769 [Abstract] [Full Text] [Related]
13. Cleidocranial Dysplasia: Presentation of Clinical and Radiological Features of a Rare Syndromic Entity. Modgil R, Arora KS, Sharma A, Mohapatra S, Pareek S. Mymensingh Med J; 2018 Apr 15; 27(2):424-428. PubMed ID: 29769514 [Abstract] [Full Text] [Related]
14. Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia. Kreiborg S, Jensen BL, Larsen P, Schleidt DT, Darvann T. J Craniofac Genet Dev Biol; 1999 Apr 15; 19(2):75-9. PubMed ID: 10416150 [Abstract] [Full Text] [Related]
15. Cleidocranial dysplasia: clinico-radiological illustration of a rare case. Mohan RP, Suma GN, Vashishth S, Goel S. J Oral Sci; 2010 Mar 15; 52(1):161-6. PubMed ID: 20339249 [Abstract] [Full Text] [Related]
16. [Childhood hypophosphatasia: a case report due to a novel mutation]. Draguet C, Gillerot Y, Mornet E. Arch Pediatr; 2004 May 15; 11(5):440-3. PubMed ID: 15135428 [Abstract] [Full Text] [Related]
17. [Clinical and image features, and identification of pathogenic gene mutation of two cleidocranial dysplasia families]. Wang GX, Ma LX, Xu WF, Song FL, Sun RP. Zhonghua Er Ke Za Zhi; 2010 Nov 15; 48(11):834-8. PubMed ID: 21215027 [Abstract] [Full Text] [Related]
19. [Clinical and molecular study in a family with cleidocranial dysplasia]. Callea M, Fattori F, Bertini ES, Yavuz I, Bellacchio E, Avendaño A, Araque D, Lacruz-Rengel MA, Da Silva G, Cammarata-Scalisi F. Arch Argent Pediatr; 2017 Dec 01; 115(6):e440-e444. PubMed ID: 29087131 [Abstract] [Full Text] [Related]
20. Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report. Fukushima K, Kawai-Kowase K, Yonemoto Y, Fujiwara M, Sato H, Sato M, Kubota T, Ozono K, Tamura J. J Med Case Rep; 2019 Apr 24; 13(1):101. PubMed ID: 31014398 [Abstract] [Full Text] [Related] Page: [Next] [New Search]