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List of works by Outi Mäkitie

A History of Cow's Milk Allergy Is Associated with Lower Vitamin D Status in Schoolchildren

scientific article published on 14 July 2017

A new family with epiphyseal chondrodysplasia type Miura

scientific article published on 19 October 2020

A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

scientific article published on 28 July 2018

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

scientific article

Altered bone composition in children with vertebral fracture

article

Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system

scientific article published on 01 February 2000

Anti-tumor necrosis factor treatment in cherubism--clinical, radiological and histological findings in two children.

scientific article published on 12 October 2012

Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

scientific article published on 26 March 2014

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign

scientific article (publication date: 15 October 2003)

Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature

scientific article published on 30 November 2020

Biomarkers in WNT1 and PLS3 Osteoporosis: Altered Concentrations of DKK1 and FGF23

scientific article published on 22 January 2020

Bisphosphonate treatment in craniofacial fibrous dysplasia--a case report and review of the literature

scientific article published on 05 February 2008

Bisphosphonates in Pediatrics – More Questions than Answers

Body composition and bone mineral density in children with premature adrenarche and the association of LRP5 gene polymorphisms with bone mineral density

scientific article published on 29 September 2009

Bone biopsy and densitometry findings in a child with Camurati–Engelmann disease

scientific article published on 06 January 2007

Bone biopsy findings and correlation with clinical, radiological, and biochemical parameters in children with fractures

scientific article published in August 2011

Bone densitometry in the diagnosis of vertebral fractures in children: Accuracy of vertebral fracture assessment

scientific article published on 06 June 2007

Bone health and growth in glucocorticoid-treated patients with juvenile idiopathic arthritis

scientific article published on 15 February 2007

Bone health and risk factors of cardiovascular disease--a cross-sectional study in healthy young adults

scientific article

Bone health in autoimmune polyendocrinopathy?candidiasis?ectodermal dystrophy (APECED): findings in 25 adults

article

Bone health in children and adolescents after allogeneic stem cell transplantation: high prevalence of vertebral compression fractures

scientific article published in July 2007

Bone health in children and adolescents after renal transplantation

scientific article published in October 2009

Bone health in patients with cloacal exstrophy and persistent cloaca after bladder augmentation

scientific article published in April 2008

Bone marrow fat unsaturation in young adults is not affected by present or childhood obesity, but increases with age: A pilot study.

scientific article

Bone mineral density and sex hormone status in intellectually disabled women on progestin-induced amenorrhea

scientific article published on January 2009

Breast-fed infants and their later cardiovascular health: a prospective study from birth to age 32 years

article

Breastfeeding and determinants of adult body composition: a prospective study from birth to young adulthood

scientific article published on 25 May 2012

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.

scientific article

COL1A1 Mutation in an Indian Child with Caffey Disease

scientific article published on 20 January 2011

Caffey disease: new perspectives on old questions

scientific article published on 31 December 2013

Calvarial doughnut lesions and osteoporosis: A new three-generation family and review

scientific article published on 01 November 2009

Causes, mechanisms and management of paediatric osteoporosis ⬇️

scientific article published on April 16, 2013

Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia

scientific article published on 18 June 2012

Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype.

scientific article

Characteristics and associated anomalies in radial ray deficiencies in Finland-A population-based study

scientific article published on 15 January 2013

Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate

scientific article published in July 2004

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

scientific article

Combating Cancer Predisposition in Association With Idiopathic Immune Deficiency: A Recurrent Nodal and Cutaneous T-Cell Lymphoproliferative Disease in a Patient With Cartilage-Hair Hypoplasia ⬇️

scientific article published on September 20, 2012

Compromised peak bone mass in patients with inflammatory bowel disease--a prospective study

scientific article

Congenital constriction band syndrome with limb defects

scientific article published in January 2015

Decreased bone mineral density in adults born with very low birth weight: a cohort study

scientific article

Decreasing incidence and changing pattern of childhood fractures: A population-based study

scientific article published on 18 June 2010

Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia

scientific article published on 01 January 1995

Deficiency of humoral immunity in cartilage-hair hypoplasia

scientific article published on 01 October 2000

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

scientific article published on 7 November 2013

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

scientific article published on December 2011

Dual effect of adipose tissue on bone health during growth

scientific article published on 19 September 2010

Dual-energy X-ray aborptiometry assessment in children and adolescents with diseases that may affect the skeleton: the 2007 ISCD Pediatric Official Positions

scientific article published on January 2008

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

scientific article published on 6 December 2011

Early Protein Intake Is Associated with Body Composition and Resting Energy Expenditure in Young Adults Born with Very Low Birth Weight

scientific article published on 15 July 2015

Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets

scientific article published in August 2003

Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains

article

Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene

scientific article published on 15 March 2008

Exome sequencing reveals a phenotype modifying variant in ZNF528 in primary osteoporosis with a COL1A2 deletion

scientific article published on 28 July 2020

Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma

scientific article published on 01 September 2008

Fibroblast Growth Factor 23 Concentrations Reflect Sex Differences in Mineral Metabolism and Growth in Early Infancy

scientific article published on 5 March 2016

Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2013 Pediatric Official Positions

scientific article published on 14 March 2014

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

scientific article published on October 2003

Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children

scientific article published on 16 December 2019

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.

scientific article

Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

scientific article published on 8 January 2016

Glucose regulation in young adults with very low birth weight

scientific article

Growth and metabolic control during puberty in girls with X-linked hypophosphataemic rickets

scientific article published on 19 March 2004

Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort

article

Growth in diastrophic dysplasia

scientific article published on 01 April 1997

Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females

scientific article published on 18 December 2018

Hajdu-Cheney syndrome with severe dural ectasia

Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

scientific article published on 4 January 2005

High Adiposity and Serum Leptin Accompanied by Altered Bone Turnover Markers in Severe Juvenile Idiopathic Arthritis

scientific article published on 15 October 2014

High prevalence of vitamin D insufficiency in patients with head and neck cancer at diagnosis

scientific article published on 27 January 2012

High-Dose Vitamin D Intervention in Infants—Effects on Vitamin D Status, Calcium Homeostasis, and Bone Strength

High-Dose Vitamin D Supplementation Does Not Prevent Allergic Sensitization of Infants

scientific article published on 20 March 2019

High-Dose Vitamin D Supplementation in Children with Cerebral Palsy or Neuromuscular Disorder

scientific article published on 01 August 2007

Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis

scientific article

Hypercalciuria and kidney function in children with haemophilia

scientific article published on 19 September 2012

Hypercalciuria in children with haemophilia suggests primary skeletal pathology

scientific article published on 10 March 2011

Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation

scientific article published on 6 November 2012

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

scientific article published on 14 May 2014

Impact of aromatase inhibitor therapy on bone turnover, cortical bone growth and vertebral morphology in pre- and peripubertal boys with idiopathic short stature

scientific article

Impaired Bone Health in Adolescents After Liver Transplantation

article

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

scientific article published in June 2012

Impaired bone health in inflammatory bowel disease: a case-control study in 80 pediatric patients

scientific article

Incidence and predictors of fractures in children after solid organ transplantation: a 5-year prospective, population-based study

scientific article

Increased Body Adiposity and Serum Leptin Concentrations in Very Long-Term Adult Male Survivors of Childhood Acute Lymphoblastic Leukemia

scientific article published on 16 June 2015

Increased Burden of Common Risk Alleles in Children With a Significant Fracture History

scientific article published on 08 January 2020

Increased Heterogeneity of Bone Matrix Mineralization in Pediatric Patients Prone to Fractures: A Biopsy Study

scientific article published on 01 January 2014

Increased incidence of cancer in patients with cartilage-hair hypoplasia

scientific article

Infant milk feeding influences adult bone health: a prospective study from birth to 32 years

scientific article

Insufficient energy and nutrient intake in children with motor disability.

scientific article published on 8 May 2009

Intestinal bladder augmentation at school age has no adverse effects on growth

scientific article published on 14 September 2007

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

scientific article

Long-term skeletal consequences of childhood acute lymphoblastic leukemia in adult males: a cohort study.

scientific article

Low bone mass in patients with motor disability: prevalence and risk factors in 59 Finnish children

scientific article published in March 2010

Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

scientific article

Low-density lipoprotein receptor-related protein 5 (LRP5) variation in fracture prone children

scientific article published on 04 January 2010

Magnetic Resonance Imaging Findings of the Pancreas in Patients with Shwachman-Diamond Syndrome and Mutations in the SBDS Gene

article

Maternal preeclampsia and bone mineral density of the adult offspring

scientific article published on 19 June 2013

Maternal vitamin D status affects bone growth in early childhood--a prospective cohort study.

scientific article

Metabolic Control and Growth during Exclusive Growth Hormone Treatment in X-Linked Hypophosphatemic Rickets

scientific article published on 21 January 2008

Molecular defects causing skeletal dysplasias

scientific article published on August 22, 2011

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

scientific article

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

scientific article

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

scientific article

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

scientific article (publication date: 26 January 2001)

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

scientific article

Myocardial function in patients with Shwachman-Diamond syndrome: Aspects to consider before stem cell transplantation

scientific article published on 01 October 2008

Neonatal, severe primary hyperparathyroidism: a 7-year clinical and radiological follow-up of one patient

scientific article published on 12 July 2002

Neuroimaging and neurological findings in patients with hypochondroplasia andFGFR3N540K mutation

New Genetic Forms of Childhood-Onset Primary Osteoporosis

scientific article

New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17

article

No Severe Hypercalcemia with Daily Vitamin D3 Supplementation of up to 30 µg during the First Year of Life

scientific article published on 23 June 2017

Novel RPL13 variants and variable clinical expressivity in a human ribosomopathy with spondyloepimetaphyseal dysplasia

scientific article published on 11 September 2020

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).

scientific article

Osteoporosis in chronically ill children

scientific article published on 01 January 2005

Osteoporosis-Pseudoglioma Syndrome: Three Novel Mutations in the LRP5 Gene and Response to Bisphosphonate Treatment

article

Osteoporosis: from molecular mechanisms to progress in treatment

scientific article

Parathyroid gland dysfunction in 22q11.2 deletion syndrome

scientific article published on 19 October 2006

Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis

scientific article published in March 2008

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

scientific article published on 23 February 2014

Peripheral quantitative computed tomography (pQCT) reveals alterations in the three-dimensional bone structure in children with haemophilia

scientific article

Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta

Prevalence of Vertebral Compression Fractures and Associated Factors in Children and Adolescents with Severe Juvenile Idiopathic Arthritis ⬇️

scientific article published on 01 December 2011

Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics

article

Prolonged high-dose phosphate treatment: a risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets

scientific article

Radiographic vertebral morphology: a diagnostic tool in pediatric osteoporosis

scientific article

Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis

scientific article published on 9 July 2012

Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in theSLC26A2gene

article

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

scientific article published on 05 August 2020

Reduced body size and shape-related symptoms in young adults born preterm with very low birth weight: Helsinki study of very low birth weight adults

scientific article published on 18 April 2010

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

scientific article published on 12 November 2018

Response to “Lateral Meningocele Syndrome and Hajdu-Cheney Syndrome: Different Disorders With Overlapping Phenotypes” by Gripp

article

Resting energy expenditure in young adults born preterm--the Helsinki study of very low birth weight adults

scientific article

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

scientific article

Risk of Metabolic Bone Disease is Increased Both during and after Weaning off Parenteral Nutrition in Pediatric Intestinal Failure

scientific article published on 26 April 2013

Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.

scientific article

Scoliosis After Solid Organ Transplantation in Children and Adolescents

scientific article published on 01 February 2006

Screening of turner syndrome with novel auxological criteria facilitates early diagnosis

scientific article published on 4 September 2012

Semen quality and fertility in adult long-term survivors of childhood acute lymphoblastic leukemia

scientific article published on 24 August 2011

Serum 25-Hydroxyvitamin D in Early Childhood Is Nonlinearly Associated with Allergy

scientific article

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis

scientific article

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.

scientific article published in June 2008

Skeletal dysplasia presenting as a neuromuscular disorder - report of three children

scientific article published on 22 January 2007

Skeletal health after intestinal bladder augmentation: findings in 54 patients

article

Suppressed bone turnover in obesity: a link to energy metabolism? A case-control study

scientific article published on 27 February 2014

Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia

scientific article published on 01 October 1998

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

scientific article published on 12 January 2007

The Effect of Oral Glucose Tolerance Test on Serum Osteocalcin and Bone Turnover Markers in Young Adults

scientific article published on 08 December 2011

The Thoracic and Lumbar Spine in Severe Juvenile Idiopathic Arthritis: Magnetic Resonance Imaging Analysis in 50 Children

scientific article published on 11 August 2011

The changing spectrum of childhood fractures

scientific article

The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood

scientific article published on 14 August 2009

The natural history of severe anemia in cartilage-hair hypoplasia

article

The phenotype range of achondrogenesis 1A

scientific article published on 16 August 2013

Timing of dental development in osteogenesis imperfecta patients with and without bisphosphonate treatment

scientific article published on 7 October 2016

Total and carboxylated osteocalcin associate with insulin levels in young adults born with normal or very low birth weight

scientific article

Towards evidence-based vitamin D supplementation in infants: vitamin D intervention in infants (VIDI) - study design and methods of a randomised controlled double-blinded intervention study.

scientific article

Uniparental disomy in cartilage-hair hypoplasia

scientific article (publication date: 1997)

Unique, gender-dependent serum microRNA profile in PLS3 gene-related osteoporosis

scientific article published on 26 May 2020

Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of thePHEXgene

scientific article published on 13 August 2014

Vertebral morphology in aromatase inhibitor-treated males with idiopathic short stature or constitutional delay of puberty

scientific article published in July 2010

Vitamin D binding protein genotype is associated with serum 25-hydroxyvitamin D and PTH concentrations, as well as bone health in children and adolescents in Finland

scientific article published on 30 January 2014

Vitamin D deficiency in children with a chronic illness-seasonal and age-related variations in serum 25-hydroxy Vitamin D concentrations

scientific article

Vitamin D in Head and Neck Cancer: a Systematic Review

scientific article published on 20 November 2020

Vitamin D is a major determinant of bone mineral density at school age.

scientific article

Vitamin D status and optimal supplementation in institutionalized adults with intellectual disability

scientific article published on 01 December 2009

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

scientific article published on May 2013

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

scientific article

Zoledronic Acid Treatment in Children with Osteogenesis Imperfecta

[Acquired osteoporosis in childhood]

scientific article published on 01 January 2005

[Cartilage-hair hypoplasia--much more than growth problem]

scientific article published on 01 January 2011

[New diagnostic criteria for pediatric osteoporosis--spinal compression fractures are an underdiagnosed problem]

scientific article published on 01 January 2011

[Osteoporosis--a new challenge for pediatricians]

scientific article published on 01 January 2003

[The role of immune deficiency in cartilage-hair hypoplasia]

scientific article published on 01 January 2000

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