310 related articles for article (PubMed ID: 29659871)
1. Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders.
Dahir KM; Tilden DR; Warner JL; Bastarache L; Smith DK; Gifford A; Ramirez AH; Simmons JS; Black MM; Newman JH; Denny JC
J Clin Endocrinol Metab; 2018 Jun; 103(6):2234-2243. PubMed ID: 29659871
[TBL] [Abstract][Full Text] [Related]
2. Mutational and biochemical findings in adults with persistent hypophosphatasemia.
McKiernan FE; Dong J; Berg RL; Scotty E; Mundt P; Larson L; Rai I
Osteoporos Int; 2017 Aug; 28(8):2343-2348. PubMed ID: 28401263
[TBL] [Abstract][Full Text] [Related]
3. Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.
García-Fontana C; Villa-Suárez JM; Andújar-Vera F; González-Salvatierra S; Martínez-Navajas G; Real PJ; Gómez Vida JM; de Haro T; García-Fontana B; Muñoz-Torres M
Sci Rep; 2019 Jul; 9(1):9569. PubMed ID: 31267001
[TBL] [Abstract][Full Text] [Related]
4. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Tenorio J; Álvarez I; Riancho-Zarrabeitia L; Martos-Moreno GÁ; Mandrile G; de la Flor Crespo M; Sukchev M; Sherif M; Kramer I; Darnaude-Ortiz MT; Arias P; Gordo G; Dapía I; Martinez-Villanueva J; Gómez R; Iturzaeta JM; Otaify G; García-Unzueta M; Rubinacci A; Riancho JA; Aglan M; Temtamy S; Hamid MA; Argente J; Ruiz-Pérez VL; Heath KE; Lapunzina P
Am J Med Genet A; 2017 Mar; 173(3):601-610. PubMed ID: 28127875
[TBL] [Abstract][Full Text] [Related]
5. Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS; Savostyanov KV; Nagornova TS; Chernov AN; Fedyakov MA; Raspopova AN; Krasnoukhov KN; Danilov LG; Moiseeva NV; Kalinin RS; Tsai VV; Eismont YA; Voinova VY; Vitebskaya AV; Gurkina EY; Kuzenkova LM; Sosnina IB; Pushkov AA; Zhanin IS; Zakharova EY
Int J Mol Sci; 2022 Oct; 23(21):. PubMed ID: 36361766
[TBL] [Abstract][Full Text] [Related]
6. ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia.
Marini F; Masi L; Giusti F; Cianferotti L; Cioppi F; Marcucci G; Ciuffi S; Biver E; Toro G; Iolascon G; Iantomasi T; Brandi ML
J Clin Endocrinol Metab; 2022 Apr; 107(5):e2087-e2094. PubMed ID: 34935951
[TBL] [Abstract][Full Text] [Related]
7. Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
Jandl NM; Schmidt T; Rolvien T; Stürznickel J; Chrysostomou K; von Vopelius E; Volk AE; Schinke T; Kubisch C; Amling M; Barvencik F
Calcif Tissue Int; 2021 Mar; 108(3):288-301. PubMed ID: 33191482
[TBL] [Abstract][Full Text] [Related]
8. Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?
Masi L; Marini F; Franceschelli F; Leoncini G; Cianferotti L; Cioppi F; Giusti F; Marcucci G; Gronchi G; Brandi ML
Osteoporos Int; 2021 Dec; 32(12):2461-2472. PubMed ID: 34097127
[TBL] [Abstract][Full Text] [Related]
9. Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.
Matsuda N; Takasawa K; Ohata Y; Takishima S; Kubota T; Ishihara Y; Fujiwara M; Ogawa E; Morio T; Kashimada K; Ozono K
Endocr J; 2020 Dec; 67(12):1227-1232. PubMed ID: 32779619
[TBL] [Abstract][Full Text] [Related]
10. Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A; Domingues C; Dufour A; Debiais F; Guggenbuhl P; Roux C; Cormier C; Cortet B; Porquet-Bordes V; Coury F; Geneviève D; Chiesa J; Colin T; Fletcher E; Guichet A; Javier RM; Laroche M; Laurent M; Lausch E; LeHeup B; Lukas C; Schwabe G; van der Burgt I; Muti C; Simon-Bouy B; Mornet E
J Bone Miner Metab; 2018 Nov; 36(6):723-733. PubMed ID: 29236161
[TBL] [Abstract][Full Text] [Related]
11. Four novel mutations in the
Xu L; Pang Q; Jiang Y; Wang O; Li M; Xing X; Xia W
Biosci Rep; 2018 Aug; 38(4):. PubMed ID: 29724887
[TBL] [Abstract][Full Text] [Related]
12. Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
Watanabe A; Karasugi T; Sawai H; Naing BT; Ikegawa S; Orimo H; Shimada T
J Hum Genet; 2011 Feb; 56(2):166-8. PubMed ID: 21179104
[TBL] [Abstract][Full Text] [Related]
13. A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.
Martins L; Dos Santos EL; de Almeida AB; Machado RA; Lyrio AM; Foster BL; Kantovitz KR; Coletta RD; Nociti FH
Osteoporos Int; 2020 Nov; 31(11):2251-2257. PubMed ID: 32572521
[TBL] [Abstract][Full Text] [Related]
14. Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Mornet E; Taillandier A; Domingues C; Dufour A; Benaloun E; Lavaud N; Wallon F; Rousseau N; Charle C; Guberto M; Muti C; Simon-Bouy B
Eur J Hum Genet; 2021 Feb; 29(2):289-299. PubMed ID: 32973344
[TBL] [Abstract][Full Text] [Related]
15. Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B; Taillandier A; Domingues C; Guberto M; Colin E; Porquet-Bordes V; Rothenbuhler A; Salles JP; Wenkert D; Zankl A; Muti C; Bacrot S; Simon-Bouy B; Mornet E
Mol Genet Metab; 2021 Mar; 132(3):198-203. PubMed ID: 33549410
[TBL] [Abstract][Full Text] [Related]
16. Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia.
Foster BL; Sheen CR; Hatch NE; Liu J; Cory E; Narisawa S; Kiffer-Moreira T; Sah RL; Whyte MP; Somerman MJ; Millán JL
J Dent Res; 2015 May; 94(5):706-14. PubMed ID: 25716980
[TBL] [Abstract][Full Text] [Related]
17. Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
Mao X; Liu S; Lin Y; Chen Z; Shao Y; Yu Q; Liu H; Lu Z; Sheng H; Lu X; Huang Y; Liu L; Zeng C
BMC Pediatr; 2019 Nov; 19(1):456. PubMed ID: 31760938
[TBL] [Abstract][Full Text] [Related]
18. Characterization of Genetic Variants of Uncertain Significance for the
Sanabria-de la Torre R; Martínez-Heredia L; González-Salvatierra S; Andújar-Vera F; Iglesias-Baena I; Villa-Suárez JM; Contreras-Bolívar V; Corbacho-Soto M; Martínez-Navajas G; Real PJ; García-Fontana C; Muñoz-Torres M; García-Fontana B
Front Endocrinol (Lausanne); 2022; 13():863940. PubMed ID: 35498405
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (
Tilden DR; Sheehan JH; Newman JH; Meiler J; Capra JA; Ramirez A; Simmons J; Dahir K
J Endocr Soc; 2020 Aug; 4(8):bvaa084. PubMed ID: 32803091
[TBL] [Abstract][Full Text] [Related]
20. Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.
Kishnani PS; Del Angel G; Zhou S; Rush ET
Mol Genet Metab; 2021 May; 133(1):113-121. PubMed ID: 33814268
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
