Makitie, Outi: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study

Padidela, Raja, Nilsson, Ola, Makitie, Outi, Beck-Nielsen, Signe, Ariceta, Gema, Schnabel, Dirk, Brandi, Maria Luisa, Boot, Annemieke, Levtchenko, Elena, Smyth, Michael, Jandhyala, Ravi, Mughal, Zulf

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 794 KB

2020

2

Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation

Costantini, Alice, Tournis, Symeon, Kämpe, Anders, Ul Ain, Noor, Taylan, Fulya, Doulgeraki, Artemis, Mäkitie, Outi

Journal:

Calcified Tissue International

Year:

2018

Language:

english

File:

PDF, 2.54 MB

english, 2018

3

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

Holopainen, Elina, Vakkilainen, Svetlana, Mäkitie, Outi

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 730 KB

english, 2018

4

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

Sally L. Cotterill, Gail C. Jackson, Matthew P. Leighton, Raimund Wagener, Outi Mäkitie, William G. Cole, Michael D. Briggs

Journal:

Year:

2005

Language:

english

File:

PDF, 332 KB

english, 2005

5

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

Karoliina Wehkalampi, Petteri Hovi, Sonja Strang-Karlsson, Katri Räikkönen, Anu-Katriina Pesonen, Kati Heinonen, Outi Mäkitie, Anna-Liisa Järvenpää, Johan G. Eriksson, Sture Andersson, Eero Kajantie

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 419 KB

english, 2010

6

Biomarkers in WNT1 and PLS3 osteoporosis: Altered concentrations of DKK1 and FGF23

Mäkitie, Riikka E., Kämpe, Anders, Costantini, Alice, Alm, Jessica J., Magnusson, Per, Mäkitie, Outi

Journal:

Journal of Bone and Mineral Research

Year:

2020

Language:

english

File:

PDF, 2.10 MB

english, 2020

7

Congenital Constriction Band Syndrome With Limb Defects

Koskimies, Eeva, Syvänen, Johanna, Nietosvaara, Yrjänä, Mäkitie, Outi, Pakkasjärvi, Niklas

Journal:

Journal of Pediatric Orthopaedics

Year:

2015

Language:

english

File:

PDF, 131 KB

english, 2015

8

Association between joint hypermobility, scoliosis, and cranial base anomalies in paediatric Osteogenesis imperfecta patients: a retrospective cross-sectional study

Arponen, Heidi, Mäkitie, Outi, Waltimo-Sirén, Janna

Journal:

BMC Musculoskeletal Disorders

Year:

2014

Language:

english

File:

PDF, 527 KB

english, 2014

9

Effect of Higher vs Standard Dosage of Vitamin D 3 Supplementation on Bone Strength and Infection in Healthy Infants

Rosendahl, Jenni, Valkama, Saara, Holmlund-Suila, Elisa, Enlund-Cerullo, Maria, Hauta-alus, Helena, Helve, Otto, Hytinantti, Timo, Levälahti, Esko, Kajantie, Eero, Viljakainen, Heli, Mäkitie, Outi, An

Journal:

JAMA Pediatrics

Year:

2018

Language:

english

File:

PDF, 507 KB

english, 2018

10

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

Arponen, Heidi, Waltimo-Sirén, Janna, Valta, Helena, Mäkitie, Outi

Journal:

BMC Musculoskeletal Disorders

Year:

2018

Language:

english

File:

PDF, 391 KB

english, 2018

11

Zoledronic Acid Treatment in Children with Osteogenesis Imperfecta

Vuorimies, Ilkka, Toiviainen-Salo, Sanna, Hero, Matti, Mäkitie, Outi

Journal:

Hormone Research in Paediatrics

Year:

2011

Language:

english

File:

PDF, 268 KB

english, 2011

12

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

Beck-Nielsen, Signe Sparre, Mughal, Zulf, Haffner, Dieter, Nilsson, Ola, Levtchenko, Elena, Ariceta, Gema, de Lucas Collantes, Carmen, Schnabel, Dirk, Jandhyala, Ravi, Mäkitie, Outi

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 2.96 MB

english, 2019

13

Deficiency of humoral immunity in cartilage-hair hypoplasia

Outi Mäkitie, Ilkka Kaitila, Erkki Savilahti

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 88 KB

english, 2000

14

Compromised Peak Bone Mass in Patients with Inflammatory Bowel Disease–A Prospective Study

Laakso, Saila, Valta, Helena, Verkasalo, Matti, Toiviainen-Salo, Sanna, Mäkitie, Outi

Journal:

The Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 415 KB

english, 2014

15

Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening ofLRP5andLRP6Genes

Franceschi, Roberto, Vincenzi, Monica, Camilot, Marta, Antoniazzi, Franco, Freemont, Anthony J., Adams, Judith E., Laine, Christine, Makitie, Outi, Mughal, M. Zulf

Journal:

Calcified Tissue International

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

16

High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia

Kostjukovits, Svetlana, Klemetti, Paula, Föhr, Anna, Kajosaari, Merja, Valta, Helena, Taskinen, Mervi, Toiviainen-Salo, Sanna, Mäkitie, Outi

Journal:

Journal of Allergy and Clinical Immunology

Year:

2016

Language:

english

File:

PDF, 4.15 MB

english, 2016

17

25-hydroxyvitamin D correlates with inflammatory markers in cord blood of healthy newborns

Rosendahl, Jenni, Holmlund-Suila, Elisa, Helve, Otto, Viljakainen, Heli, Hauta-alus, Helena, Valkama, Saara, Enlund-Cerullo, Maria, Hytinantti, Timo, Tervahartiala, Taina, Sorsa, Timo, Mäkitie, Outi,

Journal:

Pediatric Research

Year:

2017

Language:

english

File:

PDF, 745 KB

english, 2017

18

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

Mervi Taskinen, Annamari Ranki, Eero Pukkala, Leila Jeskanen, Ilkka Kaitila, Outi Mäkitie

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 80 KB

english, 2008

19

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

Kristiina Avela, Outi Mäkitie

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 54 KB

english, 2011

20

Altered bone composition in children with vertebral fracture

Inari S Tamminen, Mervi K Mäyränpää, Mikael J Turunen, Hanna Isaksson, Outi Mäkitie, Jukka S Jurvelin, Heikki Kröger

Journal:

Journal of Bone and Mineral Research

Year:

2011

Language:

english

File:

PDF, 531 KB

english, 2011

21

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

Outi Mäkitie, Sang Whay Kooh, Etienne Sochett

Journal:

Clinical Endocrinology

Year:

2003

Language:

english

File:

PDF, 220 KB

english, 2003

22

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

Seppo Taskinen, Outi Mäkitie, Riitta Fagerholm

Journal:

Journal of Pediatric Urology

Year:

2008

Language:

english

File:

PDF, 154 KB

english, 2008

23

Dual-Energy X-ray Aborptiometry Assessment in Children and Adolescents with Diseases that May Affect the Skeleton: The 2007 ISCD Pediatric Official Positions

Bishop, Nick, Braillon, Pierre, Burnham, Jon, Cimaz, Rolando, Davies, Justin, Fewtrell, Mary, Hogler, Wolfgang, Kennedy, Kathy, Mäkitie, Outi, Mughal, Zulf

Journal:

Journal of Clinical Densitometry

Year:

2008

Language:

english

File:

PDF, 275 KB

english, 2008

24

The phenotype range of achondrogenesis 1A

Grigelioniene, Giedre, Geiberger, Stefan, Papadogiannakis, Nikos, Mäkitie, Outi, Nishimura, Gen, Nordgren, Ann, Conner, Peter

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 463 KB

english, 2013

25

Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene

Syvänen, Johanna, Helenius, Ilkka, Hero, Matti, Mäkitie, Outi, Ignatius, Jaakko

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 2.78 MB

english, 2013

26

FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents

Pekkinen, Minna, Laine, Christine M., Mäkitie, Riikka, Leinonen, Eira, Lamberg-Allardt, Christel, Viljakainen, Heli, Mäkitie, Outi

Journal:

Year:

2015

Language:

english

File:

PDF, 372 KB

english, 2015

27

Obese young adults exhibit lower total and lower free serum 25-hydroxycholecalciferol in a randomized vitamin D intervention

Holmlund-Suila, Elisa, Pekkinen, Minna, Ivaska, Kaisa K., Andersson, Sture, Mäkitie, Outi, Viljakainen, Heli

Journal:

Clinical Endocrinology

Year:

2016

Language:

english

File:

PDF, 269 KB

english, 2016

28

CRTAP variants in early-onset osteoporosis and recurrent fractures

Costantini, Alice, Vuorimies, Ilkka, Mäkitie, Riikka, Mäyränpää, Mervi K., Becker, Jutta, Pekkinen, Minna, Valta, Helena, Netzer, Christian, Kämpe, Anders, Taylan, Fulya, Jiao, Hong, Mäkitie, Outi

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 70 KB

english, 2016

29

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

Valkama, Saara, Holmlund-Suila, Elisa, Enlund-Cerullo, Maria, Rosendahl, Jenni, Hauta-alus, Helena, Helve, Otto, Hytinantti, Timo, Viljakainen, Heli, Andersson, Sture, Mäkitie, Outi

Journal:

Hormone Research in Paediatrics

Year:

2017

Language:

english

File:

PDF, 477 KB

english, 2017

30

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

Vakkilainen, Svetlana, Mäkitie, Riikka, Klemetti, Paula, Valta, Helena, Taskinen, Mervi, Husebye, Eystein Sverre, Mäkitie, Outi

Journal:

Frontiers in Immunology

Year:

2018

Language:

english

File:

PDF, 406 KB

english, 2018

31

A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family

Yasin, Samina, Mustafa, Saima, Ayesha, Arzoo, Latif, Muhammad, Hassan, Mubashir, Faisal, Muhammad, Makitie, Outi, Iqbal, Furhan, Naz, Sadaf

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 4.31 MB

2020

32

Shwachman–Diamond syndrome is associated with structural brain alterations on MRI

Sanna Toiviainen-Salo, Outi Mäkitie, Minna Mannerkoski, Janne Hämäläinen, Leena Valanne, Taina Autti

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 147 KB

english, 2008

33

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

Mervi K Mäyränpää, Outi Mäkitie, Pentti E Kallio

Journal:

Journal of Bone and Mineral Research

Year:

2010

Language:

english

File:

PDF, 138 KB

english, 2010

34

Impaired Bone Health in Inflammatory Bowel Disease: A Case–Control Study in 80 Pediatric Patients

Laakso, Saila, Valta, Helena, Verkasalo, Matti, Toiviainen-Salo, Sanna, Viljakainen, Heli, Mäkitie, Outi

Journal:

Calcified Tissue International

Year:

2012

Language:

english

File:

PDF, 271 KB

english, 2012

35

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

Kirsi Jahnukainen, Risto Heikkinen, Markus Henriksson, Trevor G. Cooper, Leena-Riitta Puukko-Viertomies, Outi Mäkitie

Journal:

Fertility and Sterility

Year:

2011

Language:

english

File:

PDF, 241 KB

english, 2011

36

Hirschsprung disease associated with severe cartilage-hair hypoplasia

Outi Mäkitie, Ilkka Kaitila, Risto Rintala

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 50 KB

english, 2001

37

Bodycomposition, bone mineral density and serum adipokines in juvenile idiopathic arthritis with previous glucocorticoid therapy

Markula-Patjas, Kati P, Valta, Helena, Andersson, Sture, Viljakainen, Heli, Mäkitie, Outi

Journal:

Pediatric Rheumatology

Year:

2014

Language:

english

File:

PDF, 224 KB

english, 2014

38

Decreased Bone Mineral Density in Adults Born with Very Low Birth Weight: A Cohort Study

Hovi, Petteri, Andersson, Sture, Järvenpää, Anna-Liisa, Eriksson, Johan G., Strang-Karlsson, Sonja, Kajantie, Eero, Mäkitie, Outi, Huizinga, Tom W. J.

Journal:

Year:

2009

Language:

english

File:

PDF, 282 KB

english, 2009

39

Growth in Cartilage-Hair Hypoplasia

Mäkitie, Outi, Perheentupa, Jaakko, Kaitila, Ilkka

Journal:

Pediatric Research

Year:

1992

Language:

english

File:

PDF, 488 KB

english, 1992

40

Osteocyte protein expression is altered in low-turnover osteoporosis caused by mutations in WNT1 and PLS3

Wesseling-Perry, Katherine, Mäkitie, Riikka E., Välimäki, Ville-Valtteri, Laine, Tero, Laine, Christine M., Välimäki, Matti J., Pereira, Renata C., Mäkitie, Outi

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2017

Language:

english

File:

PDF, 19.94 MB

english, 2017

41

Maternal vitamin D status, gestational diabetes and infant birth size

Hauta-alus, Helena H., Viljakainen, Heli T., Holmlund-Suila, Elisa M., Enlund-Cerullo, Maria, Rosendahl, Jenni, Valkama, Saara M., Helve, Otto M., Hytinantti, Timo K., Mäkitie, Outi M., Andersson, Stu

Journal:

BMC Pregnancy and Childbirth

Year:

2017

Language:

english

File:

PDF, 531 KB

english, 2017

42

Metabolic milieu associates with impaired skeletal characteristics in obesity

Viljakainen, Heli T., Koistinen, Heikki A., Tervahartiala, Taina, Sorsa, Timo, Andersson, Sture, Mäkitie, Outi, Reddy, Sakamuri V.

Journal:

Year:

2017

Language:

english

File:

PDF, 866 KB

english, 2017

43

Shwachman–Diamond syndrome is associated with low-turnover osteoporosis

Sanna Toiviainen-Salo, Mervi K. Mäyränpää, Peter R. Durie, Nicole Richards, Marc Grynpas, Lynda Ellis, Shiro Ikegawa, William G. Cole, Johanna Rommens, Eino Marttinen, Erkki Savilahti, Outi Mäkitie

Journal:

Year:

2007

Language:

english

File:

PDF, 647 KB

english, 2007

44

Osteoporosis in chronically ill children

Sochett, Etienne B., Mäkitie, Outi

Journal:

Annals of Medicine

Year:

2005

Language:

english

File:

PDF, 288 KB

english, 2005

45

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

Gripp, Karen W., Robbins, Katherine M., Sobreira, Nara L., Witmer, P. Dane, Bird, Lynne M., Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S., Zackai, Elaine H., Doheny, Kimberly F., St

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.52 MB

english, 2015

46

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

Pirilä, Satu, Taskinen, Mervi, Viljakainen, Heli, Mäkitie, Outi, Kajosaari, Merja, Saarinen-Pihkala, Ulla M., Turanlahti, Maila

Journal:

British Journal Of Nutrition

Year:

2014

Language:

english

File:

PDF, 157 KB

english, 2014

47

Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

Munns, Craig F., Shaw, Nick, Kiely, Mairead, Specker, Bonny L., Thacher, Tom D., Ozono, Keiichi, Michigami, Toshimi, Tiosano, Dov, Mughal, M. Zulf, Mäkitie, Outi, Ramos-Abad, Lorna, Ward, Leanne, DiMe

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2016

Language:

english

File:

PDF, 1014 KB

english, 2016

48

Teriparatide Treatment in Patients with WNT1 or PLS3 Mutation-Related Early-Onset Osteoporosis - A Pilot Study

Välimäki, Ville-Valtteri, Mäkitie, Outi, Pereira, Renata, Laine, Christine, Wesseling-Perry, Katherine, Määttä, Jorma, Kirjavainen, Mikko, Viljakainen, Heli, Välimäki, Matti J.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2016

Language:

english

File:

PDF, 2.17 MB

english, 2016

49

Copy Number Variants are Enriched in Individuals with Early-Onset Obesity and Highlight Novel Pathogenic Pathways

Pettersson, Maria, Viljakainen, Heli, Loid, Petra, Mustila, Taina, Pekkinen, Minna, Armenio, Miriam, Andersson-Assarsson, Johanna C, Mäkitie, Outi, Lindstrand, Anna

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2017

Language:

english

File:

PDF, 531 KB

english, 2017

50

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

Sulisalo, Tuija, 2, Pertti, Hästbacka, Johanna, Wadelius, Claes, Mäkitie, Outi, de la Chapelle, Albert, Kaitila, Ilkka

Journal:

Nature Genetics

Year:

1993

File:

PDF, 386 KB

1993

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски