Meena Upadhyaya

Heath Park
Cardiff, WLS, United Kingdom

Last Updated: 09/26/2026

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Found 50 publications

Transmission ratio distortion of NF1 mutant alleles in familial Neurofibromatosis type 1.

Transmission ratio distortion of NF1 mutant alleles in familial Neurofibromatosis type 1.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 05, 2025

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Journal: Breast (Edinburgh, Scotland)

Published: September 15, 2025

'I cannot be what I don't see': an evaluation of Academic Intersectionality Mentoring in medical schools (AIMMS Mentoring).

'I cannot be what I don't see': an evaluation of Academic Intersectionality Mentoring in medical schools (AIMMS Mentoring).

Journal: PloS one

Published: February 01, 2024

Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.

Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.

Journal: Skin health and disease

Published: December 06, 2023

Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials.

Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials.

Journal: Clinical trials (London, England)

Published: October 31, 2023

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.

Journal: BMC medical genomics

Published: October 30, 2023

Management of neurofibromatosis type 1-associated plexiform neurofibromas.

Management of neurofibromatosis type 1-associated plexiform neurofibromas.

Journal: Neuro-oncology

Published: June 03, 2022

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.

Journal: European journal of human genetics : EJHG

Published: May 09, 2021

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

Journal: Human molecular genetics

Published: April 27, 2021

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Journal: American journal of medical genetics. Part A

Published: February 12, 2019

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.

Journal: Journal of medical genetics

Published: July 17, 2018

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.

Journal: Human genetics

Published: May 16, 2018

Showing 1-12 of 50

Last Updated: 09/26/2026