List of works by Shinichiro Sano

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

scientific article

A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.

scientific article published on 11 January 2018

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

scientific article published on 28 April 2016

Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.

scientific article published on 2 June 2016

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.

scientific article published on 5 November 2014

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.

scientific article

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

scientific article

Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib

scientific article published on 03 April 2015

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

scientific article

Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.

scientific article published on 6 May 2016

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