Publications by authors named "Miho Ishida"

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Pathogenesis of Noonan syndrome is modulated by NOC2L, a novel interactor of LZTR1 leading to impaired p53 signalling.
Sumana Chatterjee, Miho Ishida, Débora R Bertola, Juliana Chizo Agwu, Carles Gaston-Massuet

J Clin Endocrinol Metab· November 2025

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A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
Sinéad M McGlacken-Byrne, Jenifer P Suntharalingham, Miho Ishida, Federica Buonocore, Ignacio Del Valle

J Clin Endocrinol Metab· October 2025

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Real-world utility of diagnostic gene panels for childhood short stature and pituitary hormone deficiency in the UK.
David B N Lim, Louise McClelland, Suzanne Page, Melissa Connolly, Martina Owens, Miho Ishida

Arch Dis Child· October 2025

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Characterization of Turner Syndrome-associated Diabetes Mellitus.
Antoinette Cameron-Pimblett, Clementina La Rosa, Melanie C Davies, Jenifer P Suntharalingham, Miho Ishida

J Clin Endocrinol Metab· April 2025

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The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.
Jenifer P Suntharalingham, Ignacio Del Valle, Federica Buonocore, Sinead M McGlacken-Byrne, Tony Brooks, Miho Ishida

Commun Biol· February 2025

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Approach to the Patient With Suspected Silver-Russell Syndrome.
Uttara Kurup, David B N Lim, Helena Palau, Avinaash V Maharaj, Miho Ishida

J Clin Endocrinol Metab· September 2024

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QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.
Avinaash V Maharaj, Miho Ishida, Anna Rybak, Reem Elfeky, Afiya Andrews

Nat Commun· September 2024

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Analysis of genetic variability in Turner syndrome linked to long-term clinical features.
Jenifer P Suntharalingham, Miho Ishida, Antoinette Cameron-Pimblett, Sinead M McGlacken-Byrne, Federica Buonocore

Front Endocrinol (Lausanne)· October 2023

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Emerging phenotypes linked to variants in and MIRAGE syndrome.
Jenifer P Suntharalingham, Miho Ishida, Ignacio Del Valle, Susanne E Stalman, Nita Solanky

Front Endocrinol (Lausanne)· September 2022

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Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo.
Maria Derakhshan, Noah J Kessler, Miho Ishida, Charalambos Demetriou, Nicolas Brucato

Nucleic Acids Res· July 2022

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Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
Sinéad M McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, Laura Bellutti, Luz Garcia-Alonso, Miho Ishida

JCI Insight· March 2022

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Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
Emily Cottrell, Claudia P Cabrera, Miho Ishida, Sumana Chatterjee, James Greening

Eur J Endocrinol· December 2020

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Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
Oluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, Hazel M Inskip, Christopher D Byrne, Miho Ishida

J Med Genet· October 2020

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Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Dale Bryant, Marian Seda, Emma Peskett, Constance Maurer, Gideon Pomeranz, Miho Ishida

Sci Rep· August 2020

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Analysis of in fetal growth restriction and pregnancy loss.
Jenifer P Suntharalingham, Miho Ishida, Federica Buonocore, Ignacio Del Valle, Nita Solanky

F1000Res· June 2020

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Genetic Analyses in Small-for-Gestational-Age Newborns.
Susanne E Stalman, Nita Solanky, Miho Ishida, Cristina Alemán-Charlet, Sayeda Abu-Amero

J Clin Endocrinol Metab· March 2018

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Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.
Miguel Alsina Casanova, Ana Monteagudo-Sánchez, Luciana Rodiguez Guerineau, Franck Court, Isabel Gazquez Serrano, Miho Ishida

Hum Mutat· June 2017

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Effects of inclusion levels of pelleted silvergrass (Miscanthus sinensis Andress.) in the diet on digestibility, chewing activity, ruminal fermentation and blood metabolites in breeding Japanese Black cows.
Keigo Asano, Miho Ishida, Motohiko Ishida

Anim Sci J· March 2017

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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Miho Ishida

PLoS Genet· January 2017

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Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Elisabeth Mangold, Anne C Böhmer, Nina Ishorst, Ann-Kathrin Hoebel, Pinar Gültepe, Miho Ishida

Am J Hum Genet· April 2016

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New developments in Silver-Russell syndrome and implications for clinical practice.
Miho Ishida

Epigenomics· April 2016

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The role and interaction of imprinted genes in human fetal growth.
Gudrun E Moore, Miho Ishida, Charalambos Demetriou, Lara Al-Olabi, Lydia J Leon

Philos Trans R Soc Lond B Biol Sci· March 2015

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Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.
Charalambos Demetriou, Sayeda Abu-Amero, Anna C Thomas, Miho Ishida, Reena Aggarwal

PLoS One· December 2014

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Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Anna C Thomas, Hywel Williams, Núria Setó-Salvia, Chiara Bacchelli, Dagan Jenkins, Miho Ishida

Am J Hum Genet· November 2014

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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sérgio B Sousa, Dagan Jenkins, Estelle Chanudet, Guergana Tasseva, Miho Ishida

Nat Genet· January 2014

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