Totonchi M - Search Results

1

A novel missense variant in PNLDC1 associated with nonobstructive azoospermia.

Rahimian M, Askari M, Salehi N, Jaafarinia M, Forouzanfar M, Almadani N, Riccio A, Totonchi M. Rahimian M, et al. Among authors: totonchi m. J Genet. 2024;103:28. J Genet. 2024. PMID: 39223739 Free article.

2

Identification of a missense variant in CLDN2 in obstructive azoospermia.

Askari M, Karamzadeh R, Ansari-Pour N, Karimi-Jafari MH, Almadani N, Sadighi Gilani MA, Gourabi H, Vosough Taghi Dizaj A, Mohseni Meybodi A, Sadeghi M, Bashamboo A, McElreavey K, Totonchi M. Askari M, et al. Among authors: totonchi m. J Hum Genet. 2019 Oct;64(10):1023-1032. doi: 10.1038/s10038-019-0642-0. Epub 2019 Jul 18. J Hum Genet. 2019. PMID: 31320686

3

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.

Fatemi N, Salehi N, Pignata L, Palumbo P, Cubellis MV, Ramazanali F, Ray P, Varkiani M, Reyhani-Sabet F, Biglari A, Sparago A, Acurzio B, Palumbo O, Carella M, Riccio A, Totonchi M. Fatemi N, et al. Among authors: totonchi m. J Med Genet. 2021 Nov;58(11):783-788. doi: 10.1136/jmedgenet-2020-106909. Epub 2020 Sep 16. J Med Genet. 2021. PMID: 32938693 Free PMC article.

4

Novel STAG3 variant associated with primary ovarian insufficiency and non-obstructive azoospermia in an Iranian consanguineous family.

Akbari A, Zoha Tabatabaei S, Salehi N, Padidar K, Almadani N, Ali Sadighi Gilani M, Mashayekhi M, Motevaseli E, Totonchi M. Akbari A, et al. Among authors: totonchi m. Gene. 2022 May 5;821:146281. doi: 10.1016/j.gene.2022.146281. Epub 2022 Feb 14. Gene. 2022. PMID: 35176428

5

A novel missense variant in CDK5RAP2 associated with non-obstructive azoospermia.

Rahimian M, Askari M, Salehi N, Riccio A, Jaafarinia M, Almadani N, Totonchi M. Rahimian M, et al. Among authors: totonchi m. Taiwan J Obstet Gynecol. 2023 Nov;62(6):830-837. doi: 10.1016/j.tjog.2023.03.015. Taiwan J Obstet Gynecol. 2023. PMID: 38008501 Free article.

6

Identification of a homozygous GFPT2 variant in a family with asthenozoospermia.

Askari M, Kordi-Tamandani DM, Almadani N, McElreavey K, Totonchi M. Askari M, et al. Among authors: totonchi m. Gene. 2019 May 30;699:16-23. doi: 10.1016/j.gene.2019.02.060. Epub 2019 Mar 5. Gene. 2019. PMID: 30849544

7

A heterozygous missense variant in DLX3 leads to uterine leiomyomas and pregnancy losses in a consanguineous Iranian family.

Saboori-Darabi S, Carrera P, Akbari A, Amiri-Yekta A, Almadani N, Battista Pipitone G, Shahrokh-Tehraninejad E, Lotfi M, Mazaheri M, Totonchi M. Saboori-Darabi S, et al. Among authors: totonchi m. Gene. 2023 May 20;865:147292. doi: 10.1016/j.gene.2023.147292. Epub 2023 Feb 26. Gene. 2023. PMID: 36854347

8

The construction of a testis transcriptional cell atlas from embryo to adult reveals various somatic cells and their molecular roles.

Salehi N, Totonchi M. Salehi N, et al. Among authors: totonchi m. J Transl Med. 2023 Nov 27;21(1):859. doi: 10.1186/s12967-023-04722-2. J Transl Med. 2023. PMID: 38012716 Free PMC article.

9

ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria.

Akbari A, Pipitone GB, Anvar Z, Jaafarinia M, Ferrari M, Carrera P, Totonchi M. Akbari A, et al. Among authors: totonchi m. Hum Reprod. 2019 Jun 4;34(6):1155-1164. doi: 10.1093/humrep/dez048. Hum Reprod. 2019. PMID: 31119281

10

Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals.

Akbari A, Padidar K, Salehi N, Mashayekhi M, Almadani N, Sadighi Gilani MA, Bashambou A, McElreavey K, Totonchi M. Akbari A, et al. Among authors: totonchi m. Hum Reprod. 2021 Mar 18;36(4):1134-1145. doi: 10.1093/humrep/deaa362. Hum Reprod. 2021. PMID: 33448284

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