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Items: 10

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 78683662.

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

Etienne Mornet, Agnès Taillandier, Christelle Domingues, Annika Dufour, Emmanuelle Benaloun, Nicole Lavaud, Fabienne Wallon, Nathalie Rousseau, Carole Charle, Mihelaiti Guberto, Christine Muti, Brigitte Simon-Bouy

Eur J Hum Genet. 2021 Feb; 29(2): 289–299. Published online 2020 Sep 24. doi: 10.1038/s41431-020-00732-6

PMCID:: PMC7868366

Abstract Article PDF–971K

Select item 75785503.

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

Erin Huggins, Ricardo Ong, Cheryl Rockman-Greenberg, Lauren Bailey Flueckinger, Kathryn M. Dahir, Priya S. Kishnani

Mol Genet Metab Rep. 2020 Dec; 25: 100661. Published online 2020 Oct 21. doi: 10.1016/j.ymgmr.2020.100661

PMCID:: PMC7578550

Abstract Article PDF–1.5M

Select item 67454574.

A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy

Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşen Acar, Serdar Cömert

J Clin Res Pediatr Endocrinol. 2019 Sep; 11(3): 306–310. Published online 2019 Sep 3. doi: 10.4274/jcrpe.galenos.2018.2018.0217

PMCID:: PMC6745457

Abstract Article PDF–941K

Select item 59014735.

Brief Clinical Report: Hypophosphatasia—Diagnostic Considerations and Treatment Outcomes in an Infant

Sara Duffus, Bradly Thrasher, Ali S. Calikoglu

Case Rep Pediatr. 2018; 2018: 5719761. Published online 2018 Apr 1. doi: 10.1155/2018/5719761

PMCID:: PMC5901473

Abstract Article PDF–1.7M

Select item 54512516.

Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia

Lothar Seefried, Jasmin Baumann, Sarah Hemsley, Christine Hofmann, Erdmute Kunstmann, Beate Kiese, Yue Huang, Simon Chivers, Marie-Anne Valentin, Babul Borah, Ronenn Roubenoff, Uwe Junker, Franz Jakob

J Clin Invest. 2017 Jun 1; 127(6): 2148–2158. Published online 2017 Apr 24. doi: 10.1172/JCI83731

PMCID:: PMC5451251

Abstract Article PDF–710K

Select item 48675657.

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

Barbara Triggs‐Raine, Tamara Dyck, Kym M. Boycott, A. Micheil Innes, Carole Ober, Jillian S. Parboosingh, Alexis Botkin, Cheryl R. Greenberg, Elizabeth L. Spriggs

Mol Genet Genomic Med. 2016 May; 4(3): 312–321. Published online 2016 Jan 19. doi: 10.1002/mgg3.206

PMCID:: PMC4867565

Abstract Article PDF–414K

Select item 47319258.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 47018469.

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

Michael P. Whyte, Cheryl Rockman-Greenberg, Keiichi Ozono, Richard Riese, Scott Moseley, Agustin Melian, David D. Thompson, Nicholas Bishop, Christine Hofmann

J Clin Endocrinol Metab. 2016 Jan; 101(1): 334–342. Published online 2015 Nov 3. doi: 10.1210/jc.2015-3462

PMCID:: PMC4701846

Abstract Article

Select item 270237210.

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Delphine Fauvert, Isabelle Brun-Heath, Anne-Sophie Lia-Baldini, Linda Bellazi, Agnès Taillandier, Jean-Louis Serre, Philippe de Mazancourt, Etienne Mornet

BMC Med Genet. 2009; 10: 51. Published online 2009 Jun 6. doi: 10.1186/1471-2350-10-51