Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)

Rieko Takatani, Masanori Minagawa, Angelo Molinaro, +11

Bone

Similar FrequencyUrologyChromosome 20QMendelian DisorderGenetic Disorder +6

Individual and mixed metal maternal blood concentrations in relation to birth size: An analysis of the Japan Environment and Children’s Study (JECS)

Tomozumi Takatani, Akifumi Eguchi, Midori Yamamoto, +6

Environment International

AMP-activated protein kinase attenuates Wnt/β-catenin signaling in human osteoblastic Saos-2 cells

Tomozumi Takatani, Masanori Minagawa, Rieko Takatani, +2

Molecular and Cellular Endocrinology

Developmental BiologySignal TransductionMolecular PhysiologyAmp-activated Protein KinaseBone Homeostasis +5

Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited <i>GNAS</i> Deletion

Rieko Takatani, Angelo Molinaro, Giedré Grigelioniené, +8

Journal of Bone and Mineral Research

TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP-Ib)

Angelo Molinaro, Dov Tiosano, Rieko Takatani, +11

Journal of Bone and Mineral Research

A Large Inversion Involving <i>GNAS</i> Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)

Giedré Grigelioniené, Pasi I. Nevalainen, Monica Reyes, +11

Journal of Bone and Mineral Research

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B

Cindy Colson, Matthieu Décamp, Nicolas Gruchy, +9

Bone

Sporadic Pseudohypoparathyroidism 1BCytogeneticsGenetic DisorderGeneticsGynecology +7

Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b

Kaori Kinoshita, Masanori Minagawa, Tomozumi Takatani, +3

Endocrine Journal

Metabolic SyndromeUrologyCpg IslandGenetic DisorderMedicine +13

Decreased head circumference at birth associated with maternal tobacco smoke exposure during pregnancy on the Japanese prospective birth cohort study

Tadashi Shiohama, Aya Hisada, Midori Yamamoto, +5

Scientific Reports

Prevalence of Pseudohypoparathyroidism and Nonsurgical Hypoparathyroidism in Japan in 2017: A Nationwide Survey

Rieko Takatani, Takuo Kubota, Masanori Minagawa, +4

Journal of Epidemiology