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Literature DB >> 23921539

Clinical utility gene card for: hypophosphatasia - update 2013.

Etienne Mornet¹, Christine Hofmann², Agnès Bloch-Zupan³, Hermann Girschick⁴, Martine Le Merrer⁵.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2013 PMID： 23921539 PMCID： PMC3953904 DOI： 10.1038/ejhg.2013.177

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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42 in total

Review 1. Physiological role of alkaline phosphatase explored in hypophosphatasia.

Authors: Michael P Whyte
Journal: Ann N Y Acad Sci Date: 2010-03 Impact factor: 5.691

2. Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia.

Authors: Michael P Whyte; Deborah Wenkert; William H McAlister; M Zulf Mughal; Anthony J Freemont; Richard Whitehouse; Eileen M Baildam; Stephen P Coburn; Lawrence M Ryan; Steven Mumm
Journal: J Bone Miner Res Date: 2009-08 Impact factor: 6.741

3. A molecular-based estimation of the prevalence of hypophosphatasia in the European population.

Authors: Etienne Mornet; Alice Yvard; Agnes Taillandier; Delphine Fauvert; Brigitte Simon-Bouy
Journal: Ann Hum Genet Date: 2011-03-24 Impact factor: 1.670

4. Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia.

Authors: Camilla Schalin-Jäntti; Etienne Mornet; Antti Lamminen; Matti J Välimäki
Journal: J Clin Endocrinol Metab Date: 2010-08-25 Impact factor: 5.958

5. Hypophosphatasia may lead to bone fragility: don't miss it.

Authors: Pierre Moulin; Frédéric Vaysse; Eric Bieth; Etienne Mornet; Isabelle Gennero; Sara Dalicieux-Laurencin; Christiane Baunin; Marie Thérèse Tauber; Jérôme Sales De Gauzy; Jean Pierre Salles
Journal: Eur J Pediatr Date: 2008-09-26 Impact factor: 3.183

6. Lack of sustained response to teriparatide in a patient with adult hypophosphatasia.

Authors: Claudia Gagnon; Natalie A Sims; Steven Mumm; Sybil A McAuley; Caroline Jung; Ingrid J Poulton; Kong Wah Ng; Peter R Ebeling
Journal: J Clin Endocrinol Metab Date: 2010-01-20 Impact factor: 5.958

7. Neurosurgical aspects of childhood hypophosphatasia.

Authors: H Collmann; E Mornet; S Gattenlöhner; C Beck; H Girschick
Journal: Childs Nerv Syst Date: 2008-09-04 Impact factor: 1.475

Review 8. Prosthodontic rehabilitation of hypophosphatasia using dental implants: a review of the literature and two case reports.

Authors: C D Lynch; H M Ziada; L A Buckley; V R O'Sullivan; T Aherne; S Aherne
Journal: J Oral Rehabil Date: 2009-05-05 Impact factor: 3.837

9. Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

Authors: David A Stevenson; John C Carey; Stephen P Coburn; Karen L Ericson; Janice L B Byrne; Steven Mumm; Michael P Whyte
Journal: J Clin Endocrinol Metab Date: 2008-06-17 Impact factor: 5.958

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

Authors: Delphine Fauvert; Isabelle Brun-Heath; Anne-Sophie Lia-Baldini; Linda Bellazi; Agnès Taillandier; Jean-Louis Serre; Philippe de Mazancourt; Etienne Mornet
Journal: BMC Med Genet Date: 2009-06-06 Impact factor: 2.103

22 in total

1. Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.

Authors: Christine Hofmann; Hermann Girschick; Etienne Mornet; Doris Schneider; Franz Jakob; Birgit Mentrup
Journal: Eur J Hum Genet Date: 2014-02-26 Impact factor: 4.246

2. Low-energy trauma-induced intercondylar femoral fracture.

Authors: Mathias Aeby; Tobias Wyss; Birgit Mentrup; Erdmute Kunstmann; Franz Jakob; Daniel Aeberli
Journal: Clin Cases Miner Bone Metab Date: 2016-10-05

3. Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

Authors: Agnès Taillandier; Christelle Domingues; Clémence De Cazanove; Valérie Porquet-Bordes; Sophie Monnot; Tina Kiffer-Moreira; Agnès Rothenbuhler; Pascal Guggenbuhl; Catherine Cormier; Geneviève Baujat; Françoise Debiais; Yline Capri; Martine Cohen-Solal; Philippe Parent; Jean Chiesa; Anne Dieux; Florence Petit; Joelle Roume; Monica Isnard; Valérie Cormier-Daire; Agnès Linglart; José Luis Millán; Jean-Pierre Salles; Christine Muti; Brigitte Simon-Bouy; Etienne Mornet
Journal: Mol Genet Metab Date: 2015-09-30 Impact factor: 4.797

Review 4. Hypophosphatasia.

Authors: Agnès Linglart; Martin Biosse-Duplan
Journal: Curr Osteoporos Rep Date: 2016-06 Impact factor: 5.096

5. Anabolic actions of parathyroid hormone in a hypophosphatasia mouse model.

Authors: Laurie K McCauley; Nan E Hatch; Amy J Koh; Hwa Kyung Nam; Megan N Michalski; Justin Do
Journal: Osteoporos Int Date: 2022-07-23 Impact factor: 5.071

Review 6. Hypophosphatasia: an overview of the disease and its treatment.

Authors: M L Bianchi
Journal: Osteoporos Int Date: 2015-08-06 Impact factor: 4.507

7. Prevention of Lethal Murine Hypophosphatasia by Neonatal Ex Vivo Gene Therapy Using Lentivirally Transduced Bone Marrow Cells.

Authors: Osamu Iijima; Koichi Miyake; Atsushi Watanabe; Noriko Miyake; Tsutomu Igarashi; Chizu Kanokoda; Aki Nakamura-Takahashi; Hideaki Kinoshita; Taku Noguchi; Shinichi Abe; Sonoko Narisawa; José Luis Millán; Takashi Okada; Takashi Shimada
Journal: Hum Gene Ther Date: 2015-11-19 Impact factor: 5.695