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51. Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta. Marshall CJ; Arundel P; Mushtaq T; Offiah AC; Pollitt RC; Bishop NJ; Balasubramanian M Am J Med Genet A; 2016 Dec; 170(12):3303-3307. PubMed ID: 27549894 [TBL] [Abstract][Full Text] [Related]
52. Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Simon-Bouy B; Taillandier A; Fauvert D; Brun-Heath I; Serre JL; Armengod CG; Bialer MG; Mathieu M; Cousin J; Chitayat D; Liebelt J; Feldman B; Gérard-Blanluet M; Körtge-Jung S; King C; Laivuori H; Le Merrer M; Mehta S; Jern C; Sharif S; Prieur F; Gillessen-Kaesbach G; Zankl A; Mornet E Prenat Diagn; 2008 Nov; 28(11):993-8. PubMed ID: 18925618 [TBL] [Abstract][Full Text] [Related]
53. Clinical, radiological, morphological and biochemical data on fetal congenital lethal hypophosphatasia. Burck U; Kaitila II; Goebel HH; Hoikka V; Palotie L; Vanneuville FJ; Pahnke V Prog Clin Biol Res; 1982; 104():149-54. PubMed ID: 7163257 [No Abstract] [Full Text] [Related]
54. Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. Taillandier A; Domingues C; De Cazanove C; Porquet-Bordes V; Monnot S; Kiffer-Moreira T; Rothenbuhler A; Guggenbuhl P; Cormier C; Baujat G; Debiais F; Capri Y; Cohen-Solal M; Parent P; Chiesa J; Dieux A; Petit F; Roume J; Isnard M; Cormier-Daire V; Linglart A; Millán JL; Salles JP; Muti C; Simon-Bouy B; Mornet E Mol Genet Metab; 2015 Nov; 116(3):215-20. PubMed ID: 26432670 [TBL] [Abstract][Full Text] [Related]
55. Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia. Peach CA; Zhang Y; Wordsworth BP Rheumatology (Oxford); 2007 Jun; 46(6):1037-40. PubMed ID: 17409132 [No Abstract] [Full Text] [Related]
56. [Molecular cloning of liver/bone/kidney-type alkaline phosphatase complementary and genomic DNA: analyses of its deficiency, infantile hypophosphatasia]. Kishi F Nihon Rinsho; 1993 Feb; 51(2):488-94. PubMed ID: 8096553 [TBL] [Abstract][Full Text] [Related]
57. Fetal biometry of skeletal dysplasias: a multicentric study. Goncalves L; Jeanty P J Ultrasound Med; 1994 Oct; 13(10):767-75. PubMed ID: 7880297 [TBL] [Abstract][Full Text] [Related]
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59. Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Pauli RM; Modaff P; Sipes SL; Whyte MP Am J Med Genet; 1999 Oct; 86(5):434-8. PubMed ID: 10508985 [TBL] [Abstract][Full Text] [Related]
60. Alkaline phosphatase induction in fibroblast cultures: prenatal diagnosis and carrier detection in hypophosphatasia. Hösli P; Rudd N Monogr Hum Genet; 1978; 10():70-4. PubMed ID: 723908 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]