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Global Consensus Recommendations on Prevention and Management of Nutritional Rickets. Munns CF et al. J Clin Endocrinol Metab. (2016)

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Mantovani G et al. Nat Rev Endocrinol. (2018)

FGF23 and its role in X-linked hypophosphatemia-related morbidity. Beck-Nielsen SS et al. Orphanet J Rare Dis. (2019)

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The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2.

Vakkilainen S, Skoog T, Einarsdottir E, Middleton A, Pekkinen M, Öhman T, Katayama S, Krjutškov K, Kovanen PE, Varjosalo M, Lindqvist A, Kere J, Mäkitie O.

Sci Rep. 2019 Sep 24;9(1):13758. doi: 10.1038/s41598-019-50334-6.


Gonadal Failure Is Common in Long-Term Survivors of Childhood High-Risk Neuroblastoma Treated With High-Dose Chemotherapy and Autologous Stem Cell Rescue.

Utriainen P, Suominen A, Mäkitie O, Jahnukainen K.

Front Endocrinol (Lausanne). 2019 Aug 8;10:555. doi: 10.3389/fendo.2019.00555. eCollection 2019.


'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.

Vakkilainen S, Costantini A, Taskinen M, Wartiovaara-Kautto U, Mäkitie O.

J Med Genet. 2019 Aug 14. pii: jmedgenet-2019-106131. doi: 10.1136/jmedgenet-2019-106131. [Epub ahead of print]


A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.

Vakkilainen S, Taskinen M, Klemetti P, Pukkala E, Mäkitie O.

Front Immunol. 2019 Jul 16;10:1581. doi: 10.3389/fimmu.2019.01581. eCollection 2019.


Genetic Variation of the Vitamin D Binding Protein Affects Vitamin D Status and Response to Supplementation in Infants.

Enlund-Cerullo M, Koljonen L, Holmlund-Suila E, Hauta-Alus H, Rosendahl J, Valkama S, Helve O, Hytinantti T, Viljakainen H, Andersson S, Mäkitie O, Pekkinen M.

J Clin Endocrinol Metab. 2019 Nov 1;104(11):5483-5498. doi: 10.1210/jc.2019-00630.


Defective WNT signaling may protect from articular cartilage deterioration - a quantitative MRI study on subjects with a heterozygous WNT1 mutation.

Lehtovirta S, Mäkitie RE, Casula V, Haapea M, Niinimäki J, Niinimäki T, Peuna A, Lammentausta E, Mäkitie O, Nieminen MT.

Osteoarthritis Cartilage. 2019 Nov;27(11):1636-1646. doi: 10.1016/j.joca.2019.07.001. Epub 2019 Jul 9.


Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.

Kausar M, Siddiqi S, Yaqoob M, Mansoor S, Makitie O, Mir A, Khor CC, Foo JN, Anees M.

J Biomed Sci. 2019 Apr 28;26(1):31. doi: 10.1186/s12929-019-0525-x.


The autoimmune targets in IPEX are dominated by gut epithelial proteins.

Eriksson D, Bacchetta R, Gunnarsson HI, Chan A, Barzaghi F, Ehl S, Hallgren Å, van Gool F, Sardh F, Lundqvist C, Laakso SM, Rönnblom A, Ekwall O, Mäkitie O, Bensing S, Husebye ES, Anderson M, Kämpe O, Landegren N.

J Allergy Clin Immunol. 2019 Jul;144(1):327-330.e8. doi: 10.1016/j.jaci.2019.02.031. Epub 2019 Apr 23. No abstract available.


A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects.

Einarsdottir E, Pekkinen M, Krjutškov K, Katayama S, Kere J, Mäkitie O, Viljakainen H.

Endocr Connect. 2019 May 1;8(5):559-570. doi: 10.1530/EC-18-0537.


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

Rosendahl J, Pelkonen AS, Helve O, Hauta-Alus H, Holmlund-Suila E, Valkama S, Enlund-Cerullo M, Viljakainen H, Hytinantti T, Mäkitie O, Andersson S, Mäkelä MJ.

J Pediatr. 2019 Jun;209:139-145.e1. doi: 10.1016/j.jpeds.2019.02.021. Epub 2019 Mar 20.


A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.

Kausar M, Chew EGY, Ullah H, Anees M, Khor CC, Foo JN, Makitie O, Siddiqi S.

Front Genet. 2019 Mar 5;10:144. doi: 10.3389/fgene.2019.00144. eCollection 2019.


New Insights Into Monogenic Causes of Osteoporosis.

Mäkitie RE, Costantini A, Kämpe A, Alm JJ, Mäkitie O.

Front Endocrinol (Lausanne). 2019 Feb 25;10:70. doi: 10.3389/fendo.2019.00070. eCollection 2019. Review.


FGF23 and its role in X-linked hypophosphatemia-related morbidity.

Beck-Nielsen SS, Mughal Z, Haffner D, Nilsson O, Levtchenko E, Ariceta G, de Lucas Collantes C, Schnabel D, Jandhyala R, Mäkitie O.

Orphanet J Rare Dis. 2019 Feb 26;14(1):58. doi: 10.1186/s13023-019-1014-8. Review.


Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.

Pekkinen M, Terhal PA, Botto LD, Henning P, Mäkitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Mäkitie O.

JCI Insight. 2019 Apr 4;4(7). pii: 126180. doi: 10.1172/jci.insight.126180. eCollection 2019 Apr 4.


Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ.

Am J Hum Genet. 2019 Mar 7;104(3):439-453. doi: 10.1016/j.ajhg.2019.01.009. Epub 2019 Feb 14.


Mesenchymal Cell-Derived Juxtacrine Wnt1 Signaling Regulates Osteoblast Activity and Osteoclast Differentiation.

Wang F, Tarkkonen K, Nieminen-Pihala V, Nagano K, Majidi RA, Puolakkainen T, Rummukainen P, Lehto J, Roivainen A, Zhang FP, Mäkitie O, Baron R, Kiviranta R.

J Bone Miner Res. 2019 Jun;34(6):1129-1142. doi: 10.1002/jbmr.3680. Epub 2019 Mar 7.


Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, Mäkitie O, Campeau PM.

Bone. 2019 Apr;121:163-171. doi: 10.1016/j.bone.2018.12.020. Epub 2018 Dec 30.


Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study.

Arponen H, Bachour A, Bäck L, Valta H, Mäkitie A, Waltimo-Sirén J, Mäkitie O.

Orphanet J Rare Dis. 2018 Dec 29;13(1):231. doi: 10.1186/s13023-018-0971-7.


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

Holopainen E, Vakkilainen S, Mäkitie O.

Am J Med Genet A. 2019 Feb;179(2):190-195. doi: 10.1002/ajmg.a.60684. Epub 2018 Dec 18.


Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.

Kausar M, Siddiqi S, Yaqoob M, Mansoor S, Makitie O, Mir A, Khor CC, Foo JN, Anees M.

J Biomed Sci. 2018 Nov 17;25(1):82. doi: 10.1186/s12929-018-0481-x. Erratum in: J Biomed Sci. 2019 Apr 28;26(1):31.


Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.

Holopainen E, Vakkilainen S, Mäkitie O.

Orphanet J Rare Dis. 2018 Nov 16;13(1):207. doi: 10.1186/s13023-018-0945-9.


Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.

Kausar M, Mäkitie RE, Toiviainen-Salo S, Ignatius J, Anees M, Mäkitie O.

Eur J Med Genet. 2019 Nov;62(11):103573. doi: 10.1016/j.ejmg.2018.11.007. Epub 2018 Nov 10.


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

Nazaryan-Petersen L, Eisfeldt J, Pettersson M, Lundin J, Nilsson D, Wincent J, Lieden A, Lovmar L, Ottosson J, Gacic J, Mäkitie O, Nordgren A, Vezzi F, Wirta V, Käller M, Hjortshøj TD, Jespersgaard C, Houssari R, Pignata L, Bak M, Tommerup N, Lundberg ES, Tümer Z, Lindstrand A.

PLoS Genet. 2018 Nov 12;14(11):e1007780. doi: 10.1371/journal.pgen.1007780. eCollection 2018 Nov.


A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.

Vakkilainen S, Mäkitie R, Klemetti P, Valta H, Taskinen M, Husebye ES, Mäkitie O.

Front Immunol. 2018 Oct 25;9:2468. doi: 10.3389/fimmu.2018.02468. eCollection 2018.


Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux.

Ain NU, Iqbal M, Valta H, Emerling CA, Ahmed S, Makitie O, Naz S.

Eur J Med Genet. 2019 Sep;62(9):103554. doi: 10.1016/j.ejmg.2018.10.006. Epub 2018 Oct 22.


Vitamin D Status in Children With Hemato-Oncological Diseases in Northern Finland.

Lumme J, Möttönen M, Pokka T, Mäkitie O, Harila-Saari A, Niinimäki R.

Clin Pediatr (Phila). 2019 Feb;58(2):241-244. doi: 10.1177/0009922818806310. Epub 2018 Oct 8. No abstract available.


High Pregnancy, Cord Blood, and Infant Vitamin D Concentrations May Predict Slower Infant Growth.

Hauta-Alus HH, Kajantie E, Holmlund-Suila EM, Rosendahl J, Valkama SM, Enlund-Cerullo M, Helve OM, Hytinantti TK, Viljakainen H, Andersson S, Mäkitie O.

J Clin Endocrinol Metab. 2019 Feb 1;104(2):397-407. doi: 10.1210/jc.2018-00602.


Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1.

Bruserud Ø, Costea DE, Laakso S, Garty BZ, Mathisen E, Mäkitie A, Mäkitie O, Husebye ES.

Front Endocrinol (Lausanne). 2018 Aug 17;9:463. doi: 10.3389/fendo.2018.00463. eCollection 2018.


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

Merker A, Neumeyer L, Hertel NT, Grigelioniene G, Mäkitie O, Mohnike K, Hagenäs L.

Am J Med Genet A. 2018 Aug;176(8):1723-1734. doi: 10.1002/ajmg.a.38853. Epub 2018 Aug 2.


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

Loid P, Mäkitie R, Costantini A, Viljakainen H, Pekkinen M, Mäkitie O.

Am J Med Genet A. 2018 Sep;176(9):1972-1975. doi: 10.1002/ajmg.a.40370. Epub 2018 Jul 28.


Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility.

Costantini A, Skarp S, Kämpe A, Mäkitie RE, Pettersson M, Männikkö M, Jiao H, Taylan F, Lindstrand A, Mäkitie O.

Front Endocrinol (Lausanne). 2018 Jul 10;9:380. doi: 10.3389/fendo.2018.00380. eCollection 2018.


Testicular Function and Bone in Young Men with Severe Childhood-Onset Obesity.

Laakso S, Viljakainen H, Lipsanen-Nyman M, Turpeinen U, Ivaska KK, Anand-Ivell R, Ivell R, Mäkitie O.

Horm Res Paediatr. 2018;89(6):442-449. doi: 10.1159/000489818. Epub 2018 Jun 29.


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

Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A.

Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Review.


Comparing osteonecrosis clinical phenotype, timing, and risk factors in children and young adults treated for acute lymphoblastic leukemia.

Mogensen SS, Harila-Saari A, Mäkitie O, Myrberg IH, Niinimäki R, Vestli A, Hafsteinsdottir S, Griškevicius L, Saks K, Hallböök H, Retpen J, Helt LR, Toft N, Schmiegelow K, Frandsen TL; Nordic Society of Paediatric Haematology and Oncology (NOPHO) group.

Pediatr Blood Cancer. 2018 Oct;65(10):e27300. doi: 10.1002/pbc.27300. Epub 2018 Jun 26.


A novel frameshift deletion in PLS3 causing severe primary osteoporosis.

Costantini A, Krallis PΝ, Kämpe A, Karavitakis EM, Taylan F, Mäkitie O, Doulgeraki A.

J Hum Genet. 2018 Aug;63(8):923-926. doi: 10.1038/s10038-018-0472-5. Epub 2018 Jun 8.


Effect of Higher vs Standard Dosage of Vitamin D3 Supplementation on Bone Strength and Infection in Healthy Infants: A Randomized Clinical Trial.

Rosendahl J, Valkama S, Holmlund-Suila E, Enlund-Cerullo M, Hauta-Alus H, Helve O, Hytinantti T, Levälahti E, Kajantie E, Viljakainen H, Mäkitie O, Andersson S.

JAMA Pediatr. 2018 Jul 1;172(7):646-654. doi: 10.1001/jamapediatrics.2018.0602.


Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders.

Mäkitie O, Vakkilainen S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 Mar 15 [updated 2018 May 24].


Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7.

Costantini A, Wallgren-Pettersson C, Mäkitie O.

Eur J Med Genet. 2018 Oct;61(10):612-615. doi: 10.1016/j.ejmg.2018.04.004. Epub 2018 Apr 14.


Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort.

Utriainen P, Valta H, Björnsdottir S, Mäkitie O, Horemuzova E.

Front Endocrinol (Lausanne). 2018 Mar 15;9:96. doi: 10.3389/fendo.2018.00096. eCollection 2018.


Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.

Costantini A, Tournis S, Kämpe A, Ul Ain N, Taylan F, Doulgeraki A, Mäkitie O.

Calcif Tissue Int. 2018 Sep;103(3):353-358. doi: 10.1007/s00223-018-0414-4. Epub 2018 Mar 23.


Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling.

Mäkitie RE, Hackl M, Niinimäki R, Kakko S, Grillari J, Mäkitie O.

J Clin Endocrinol Metab. 2018 May 1;103(5):1985-1996. doi: 10.1210/jc.2017-02585.


Low free 25-hydroxyvitamin D and high vitamin D binding protein and parathyroid hormone in obese Caucasians. A complex association with bone?

Saarnio E, Pekkinen M, Itkonen ST, Kemi V, Karp H, Ivaska KK, Risteli J, Koivula MK, Kärkkäinen M, Mäkitie O, Sievänen H, Lamberg-Allardt C.

PLoS One. 2018 Feb 28;13(2):e0192596. doi: 10.1371/journal.pone.0192596. eCollection 2018.


Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases.

Holopainen E, Vakkilainen S, Mäkitie O.

J Pediatr Adolesc Gynecol. 2018 Aug;31(4):422-425. doi: 10.1016/j.jpag.2018.02.128. Epub 2018 Feb 17.


Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - a cross-sectional questionnaire study.

Arponen H, Waltimo-Sirén J, Valta H, Mäkitie O.

BMC Musculoskelet Disord. 2018 Jan 8;19(1):3. doi: 10.1186/s12891-017-1922-5.


Maternal vitamin D status, gestational diabetes and infant birth size.

Hauta-Alus HH, Viljakainen HT, Holmlund-Suila EM, Enlund-Cerullo M, Rosendahl J, Valkama SM, Helve OM, Hytinantti TK, Mäkitie OM, Andersson S.

BMC Pregnancy Childbirth. 2017 Dec 15;17(1):420. doi: 10.1186/s12884-017-1600-5.


Food and Nutrient Intake and Nutrient Sources in 1-Year-Old Infants in Finland: A Cross-Sectional Analysis.

Hauta-Alus HH, Korkalo L, Holmlund-Suila EM, Rosendahl J, Valkama SM, Enlund-Cerullo M, Helve OM, Hytinantti TK, Mäkitie OM, Andersson S, Viljakainen HT.

Nutrients. 2017 Dec 1;9(12). pii: E1309. doi: 10.3390/nu9121309.


Defective WNT signaling associates with bone marrow fibrosis-a cross-sectional cohort study in a family with WNT1 osteoporosis.

Mäkitie RE, Niinimäki R, Kakko S, Honkanen T, Kovanen PE, Mäkitie O.

Osteoporos Int. 2018 Feb;29(2):479-487. doi: 10.1007/s00198-017-4309-4. Epub 2017 Nov 16.


Prothrombotic state in young females with severe early-onset obesity.

Loid P, Långström S, Viljakainen H, Mäkipernaa A, Heikinheimo M, Mäkitie O.

Pediatr Res. 2018 Jan;83(1-1):2-4. doi: 10.1038/pr.2017.248. Epub 2017 Oct 25. No abstract available.


Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.

Pekkinen M, Grigelioniene G, Akin L, Shah K, Karaer K, Kurtoğlu S, Ekbote A, Aycan Z, Sağsak E, Danda S, Åström E, Mäkitie O.

Am J Med Genet A. 2017 Dec;173(12):3132-3135. doi: 10.1002/ajmg.a.38491. Epub 2017 Oct 21. No abstract available.


Sex and Iron Modify Fibroblast Growth Factor 23 Concentration in 1-Year-Old Children.

Holmlund-Suila E, Enlund-Cerullo M, Valkama S, Hauta-Alus H, Rosendahl J, Helve O, Hytinantti T, Viljakainen H, Andersson S, Mäkitie O.

J Clin Endocrinol Metab. 2017 Dec 1;102(12):4526-4533. doi: 10.1210/jc.2017-01211.


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