Identification of a novel ALMS1 pathogenic variant in a family with Cone-Rod Dystrophy using whole exome sequencing, followed by prenatal diagnosis

Autor: Rafati, Maryam, Tara, Seyedeh Zahra, Hoseininasab, Fatemeh, Ghaffari, Saeed Reza

Publikováno v: In Meta Gene September 2018 17:167-171

A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia

Autor: Rafati, Maryam, Mohamadhashem, Faezeh, Hoseini, Azadeh, Hoseininasab, Fatemeh, Ghaffari, Saeed Reza

Publikováno v: In European Journal of Medical Genetics June 2016 59(6-7):330-336

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.

Autor: Chegini M; Department of Genetics, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.; Applied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran., Eslami M; Department of Genetics, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.; Applied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran., Motavaf M; Functional Neurosurgery Research Center, Shohada Tajrish Neurosurgical Comprehensive Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Memarsadeghi O; Applied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran., Hoseini A; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Torab E; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Hoseininasab F; Department of Reproductive Genetics, Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran., Amiri H; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Ramandi S; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Mostofinezhad N; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Keivani F; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Ghaffari SR; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran. saeed@ghaffari.org.; Department of Reproductive Genetics, Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran. saeed@ghaffari.org.; Department of Genomics, Gene Clinic, Tehran, Iran. saeed@ghaffari.org., Rafati M; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran. maryam.rafati@nih.gov.; Department of Reproductive Genetics, Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran. maryam.rafati@nih.gov.

Publikováno v: Archives of dermatological research [Arch Dermatol Res] 2023 Dec 07; Vol. 316 (1), pp. 24. Date of Electronic Publication: 2023 Dec 07.