Ariella Shukron-Weinberg

Jerusalem, JM, Israel

Last Updated: 09/26/2026

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Found 14 publications

Reversible Mitochondrial Iron Toxicity in Wolfram Syndrome Type 2 Monogenic Diabetes.

Reversible Mitochondrial Iron Toxicity in Wolfram Syndrome Type 2 Monogenic Diabetes.

Journal: The Journal of clinical endocrinology and metabolism
Published: April 19, 2026

Nucleoporin107 mediates female sexual differentiation via Dsx.

Nucleoporin107 mediates female sexual differentiation via Dsx.

Journal: eLife
Published: July 29, 2021

A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.

A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.

Journal: Pediatric endocrinology reviews : PER
Published: August 12, 2020

NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.

NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.

Journal: The Journal of clinical endocrinology and metabolism
Published: May 21, 2020

The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.

The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.

Journal: American journal of medical genetics. Part A
Published: November 29, 2019

Essential Role of BRCA2 in Ovarian Development and Function.

Essential Role of BRCA2 in Ovarian Development and Function.

Journal: The New England journal of medicine
Published: September 13, 2018

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Journal: Journal of medical genetics
Published: February 12, 2018

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Journal: Neurology
Published: September 08, 2016

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

Journal: The Journal of clinical investigation
Published: July 06, 2015

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.

Journal: Journal of medical genetics
Published: February 19, 2015

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.

Journal: Journal of medical genetics
Published: November 26, 2014

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

Journal: The Journal of clinical investigation
Published: October 01, 2014
Showing 1-12 of 14

Last Updated: 09/26/2026