Mervi K. Mayranpaa - Publications

A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure.

Journal: Hormone research in paediatrics

Published: March 04, 2024

A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure.

Journal: Hormone research in paediatrics

Published: March 04, 2024

Otologic injuries are frequent in pediatric patients with temporal bone fractures.

Journal: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery

Published: June 03, 2022

Genetic variation in WNT16 and its association with bone mineral density, fractures and osteoporosis in children with bone fragility.

Journal: Bone reports

Published: November 19, 2021

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Published: December 27, 2016

Bisphosphonate Treatment and the Characteristics of Femoral Fractures in Children With Osteogenesis Imperfecta.

Journal: The Journal of clinical endocrinology and metabolism

Published: November 20, 2016

CRTAP variants in early-onset osteoporosis and recurrent fractures.

Journal: American journal of medical genetics. Part A

Published: June 17, 2016

A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: March 11, 2014

The changing spectrum of childhood fractures

Journal: Duodecim; laaketieteellinen aikakauskirja

Published: November 14, 2013

Pediatric solid organ transplantation and osteoporosis: a descriptive study on bone histomorphometric findings.

Journal: Pediatric nephrology (Berlin, Germany)

Published: September 23, 2013

Increased heterogeneity of bone matrix mineralization in pediatric patients prone to fractures: a biopsy study.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: June 25, 2013

Impaired bone health and asymptomatic vertebral compressions in fracture-prone children: a case-control study.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: February 28, 2012