Publications by authors named "Aziz Mhanni"

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Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome.
Tamar Rubin, Stéphane Bernier, Lily Siok Hoon Lim, Michael S Salman, Edward Leung, Aziz Mhanni

Front Immunol· March 2025

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Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series.
Cheryl Rockman-Greenberg, Robert Josse, Mira Francis, Aziz Mhanni

Bone Rep· December 2022

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Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Sophie Sleiman, Aren E Marshall, Xiaomin Dong, Aziz Mhanni, Ismaël Alidou-D'Anjou

Hum Mol Genet· February 2022

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Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.
Angelika J Dawson, Karine Hovanes, Jing Liu, Sandra Marles, Cheryl Greenberg, Aziz Mhanni

Clin Dysmorphol· April 2021

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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
David A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, Zeynep Coban Akdemir, Kyrieckos A Aleck, Aziz Mhanni

Am J Med Genet A· January 2021

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A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.
Aisha Al Shamsi, Noura Al Hassani, Moustafa Hamchou, Raya Almazrouei, Aziz Mhanni

Mol Genet Genomic Med· November 2020

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Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada.
Tanya Khaper, Martin Bunge, Ian Clark, Mubeen Fatima Rafay, Aziz Mhanni

Paediatr Child Health· November 2017

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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Kristin D Kernohan, David A Dyment, Mihaela Pupavac, Zvi Cramer, Arran McBride, Aziz Mhanni

Hum Mutat· May 2017

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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Kym M Boycott, Chandree L Beaulieu, Kristin D Kernohan, Ola H Gebril, Aziz Mhanni

Am J Hum Genet· December 2015

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SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Julien H Park, Max Hogrebe, Marianne Grüneberg, Ingrid DuChesne, Ava L von der Heiden, Aziz A Mhanni

Am J Hum Genet· December 2015

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Understanding the impact of 1q21.1 copy number variant.
Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Aziz Mhanni

Orphanet J Rare Dis· August 2011

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