Below are the most recent publications written about "Consanguinity" by people in Profiles.
-
Saeidian AH, Youssefian L, Huang CY, Palizban F, Naji M, Saffarian Z, Mahmoudi H, Goodarzi A, Sotoudeh S, Vahidnezhad F, Amani M, Tavakoli N, Ajami A, Mozafarpoor S, Teimoorian M, Dorgaleleh S, Shokri S, Shenagari M, Abedi N, Zeinali S, Fortina P, Béziat V, Jouanguy E, Casanova JL, Uitto J, Vahidnezhad H. Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions. JCI Insight. 2022 Apr 22; 7(8).
-
Asadi-Pooya AA. Consanguinity and neuropsychiatric disorders. Asian J Psychiatr. 2022 06; 72:103112.
-
Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. PLoS Genet. 2021 10; 17(10):e1009848.
-
Kalay Yildizhan I, G?kpinar Ili E, Onoufriadis A, Kocyigit P, Kesidou E, Simpson MA, McGrath JA, Kutlay NY, Kundakci N. New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis. Cytogenet Genome Res. 2020; 160(9):523-530.
-
Tester DJ, Bombei HM, Fitzgerald KK, Giudicessi JR, Pitel BA, Thorland EC, Russell BG, Hamrick SK, Kim CSJ, Haglund-Turnquist CM, Johnsrude CL, Atkins DL, Ochoa Nunez LA, Law I, Temple J, Ackerman MJ. Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community. JAMA Cardiol. 2020 03 01; 5(3):13-18.
-
Onoufriadis A, Ahmed N, Bessar H, Guy A, Liu L, Marantzidis A, Kesidou E, Papanikolaou M, Simpson MA, Mellerio JE, Lee JYW, McGrath JA. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis. J Invest Dermatol. 2020 06; 140(6):1285-1288.
-
Merlini L, Sabatelli P, Antoniel M, Carinci V, Niro F, Monetti G, Torella A, Giugliano T, Faldini C, Nigro V. Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. Skelet Muscle. 2019 05 27; 9(1):14.
-
Asadi-Pooya AA, Bahrami Z. Parental consanguinity in patients with psychogenic nonepileptic seizures. Epilepsy Behav. 2019 05; 94:167-168.
-
Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, El-Akouri K, Almulla M, Al Sulaiman R, Musa S, Al-Marri AA, Richard G, Juusola J, Solomon BD, Alkuraya FS, Ben-Omran T. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience. Am J Med Genet A. 2019 06; 179(6):927-935.
-
Onoufriadis A, Nanda A, Sheriff A, Tomita K, Gomaa NS, Simpson MA, McGrath JA. Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1). JAMA Dermatol. 2019 02 01; 155(2):257-259.