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Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

BMC musculoskeletal disorders, 2023-09, Vol.24 (1), p.735-11, Article 735

2023

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Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis

Frontiers in endocrinology (Lausanne), 2022-09, Vol.13, p.954730-954730

2022

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Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity

Frontiers in genetics, 2022-03, Vol.13, p.839349-839349

2022

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Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity

Frontiers in endocrinology (Lausanne), 2020-02, Vol.11, p.81-81

2020

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A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome

Bone Reports, 2024-09, Vol.22, p.101789, Article 101789

2024

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Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

Frontiers in pediatrics, 2022-10, Vol.10, p.969881

2022

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GNAS, PDE4D , and PRKAR1A Mutations and GNAS Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children

Frontiers in pediatrics, 2020-04, Vol.8, p.145-145

2020

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A novel PHIP variant in a family with severe early-onset obesity

Hormone research in paediatrics, 2024-10, p.1-15

2024

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SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature

Genes, 2021-05, Vol.12 (5), p.714

2021

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Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways

The journal of clinical endocrinology and metabolism, 2017-08, Vol.102 (8), p.3029-3039

2017

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

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1972-1975

2018

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Germline mutations in a G protein identify signaling cross-talk in T cells

Science (American Association for the Advancement of Science), 2024-09, Vol.385 (6715), p.eadd8947

2024

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Identification of IGLI1/I and IKIAA0825/I Variants in Two Families with Postaxial Polydactyly

Genes, 2023-04, Vol.14 (4)

2023

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Antibiotics in the first week of life is a risk factor for allergic rhinitis at school age

Pediatric allergy and immunology, 2014-08, Vol.25 (5), p.468-472

2014

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The allergic march comprises the coexistence of related patterns of allergic disease not just the progressive development of one disease

Acta Paediatrica, 2016-12, Vol.105 (12), p.1472-1479

2016

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Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

Genes, 2023-04, Vol.14 (4), p.869

2023

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Prothrombotic state in young females with severe early-onset obesity

Pediatric research, 2018-01, Vol.83 (1), p.2-4

2018

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A persistently high body mass index increases the risk of atopic asthma at school age

Acta Paediatrica, 2015-07, Vol.104 (7), p.707-712

2015

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PD05 ‐ Asthma and allergy from infancy into school age – the allergic march revisited

Clinical and translational allergy, 2014-02, Vol.4 (S1), p.P5-n/a

2014

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Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

Frontiers in pediatrics, 2022, Vol.10, p.969881-969881

2022

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Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis

Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity

Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity

A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome

Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

GNAS, PDE4D , and PRKAR1A Mutations and GNAS Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children

A novel PHIP variant in a family with severe early-onset obesity

SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways

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

Germline mutations in a G protein identify signaling cross-talk in T cells

Identification of IGLI1/I and IKIAA0825/I Variants in Two Families with Postaxial Polydactyly

Antibiotics in the first week of life is a risk factor for allergic rhinitis at school age

The allergic march comprises the coexistence of related patterns of allergic disease not just the progressive development of one disease

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

Prothrombotic state in young females with severe early-onset obesity

A persistently high body mass index increases the risk of atopic asthma at school age

PD05 ‐ Asthma and allergy from infancy into school age – the allergic march revisited

Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

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